Fetal alcohol syndrome
Encyclopedia
Fetal alcohol syndrome is a pattern of mental and physical defects that can develop in a fetus in association with high levels of alcohol consumption during pregnancy. Current research also implicates other lifestyle choices made by the prospective mother (see below). Indications for lower levels of alcohol are inconclusive http://www.telegraph.co.uk/health/healthnews/8043393/Pregnant-women-told-glass-of-wine-a-week-wont-harm-baby-research.html The current recommendation of both the Surgeon General of the United States
and the British
Department of Health
is to drink no alcohol at all during pregnancy.
Alcohol
crosses the placental barrier and can stunt fetal growth or weight
, create distinctive facial stigmata, damage neuron
s and brain structures, which can result in psychological or behavioral problems, and cause other physical damage.
Surveys found that in the United States, 10–15% of pregnant women report having recently used alcohol, and up to 30% use alcohol at some point during pregnancy.
The main effect of FAS is permanent central nervous system damage
, especially to the brain
. Developing brain cell
s and structures can be malformed or have development interrupted by prenatal alcohol exposure; this can create an array of primary cognitive and functional disabilities (including poor memory
, attention deficits, impulsive behavior, and poor cause-effect reasoning) as well as secondary disabilities (for example, predispositions to mental health problems
and drug addiction
). Alcohol exposure presents a risk of fetal brain damage at any point during a pregnancy, since brain development is ongoing throughout pregnancy.
Fetal alcohol exposure is the leading known cause of intellectual disability
in the Western world.
In the United States
and Europe
, the FAS prevalence rate is estimated to be between 0.2-1.5 in every 1000 live births. The lifetime medical and social cost
s of FAS are estimated to be as high as US$800,000 per child born with the disorder.
, weight or both due to prenatal alcohol exposure, and can be assessed at any point in the lifespan
. Growth measurements must be adjusted for parental height, gestational age
(for a premature infant
), and other postnatal
insults (e.g., poor nutrition), although birth height and weight are the preferred measurements. Deficiencies are documented H191 when height or weight falls at or below the 10th percentile of standardized growth charts appropriate to the patient's population.
The CDC and Canadian guidelines use the 10th percentile as a cut-off to determine growth deficiency. The "4-Digit Diagnostic Code" allows for mid-range gradations in growth deficiency (between the 3rd and 10th percentiles) and severe growth deficiency at or below the 3rd percentile. Growth deficiency (at severe, moderate, or mild levels) contributes to diagnoses of FAS and PFAS (Partial Fetal Alcohol Syndrome), but not ARND (Alcohol-Related Neurodevelopmental Disorder) or static encephalopathy.
Growth deficiency is ranked as follows by the "4-Digit Diagnostic Code:"
abnormalities are often visible in individuals with FAS. The presence of FAS facial features indicates brain damage
, though brain damage may also exist in their absence. FAS facial features (and most other visible, but non-diagnostic, deformities) are believed to be caused mainly during the 10th and 20th week of gestation.
Refinements in diagnostic criteria since 1975 have yielded three distinctive and diagnostically significant facial features known to result from prenatal alcohol exposure and distinguishes FAS from other disorders with partially overlapping characteristics. The three FAS facial features are:
Measurement of FAS facial features uses criteria developed by the University of Washington. The lip and philtrum are measured by a trained physician with the Lip-Philtrum Guide, a 5-point Likert Scale with representative photographs of lip and philtrum combinations ranging from normal (ranked 1) to severe (ranked 5). Palpebral fissure length (PFL) is measured in millimeters with either calipers or a clear ruler and then compared to a PFL growth chart, also developed by the University of Washington.
Ranking FAS facial features is complicated because the three separate facial features can be affected independently by prenatal alcohol. A summary of the criteria follows:
These distinctive facial features in a patient do strongly correlate to brain damage. Sterling Clarren
of the University of Washington's Fetal Alcohol and Drug Unit told a conference in 2002:
(CNS) damage is the primary feature of any Fetal Alcohol Spectrum Disorder (FASD) diagnosis. Prenatal exposure to alcohol — which is classified as a teratogen — can damage the brain across a continuum of gross to subtle impairments, depending on the amount, timing, and frequency of the exposure as well as genetic predispositions of the fetus and mother. While functional abnormalities are the behavioral and cognitive expressions of the FAS disability, CNS damage can be assessed in three areas: structural, neurological, and functional impairments.
All four diagnostic systems allow for assessment of CNS damage in these areas, but criteria vary. The IOM system requires structural or neurological impairment for a diagnosis of FAS. The "4-Digit Diagnostic Code" and CDC guidelines state that functional anomalies must measure at two standard deviations or worse in three or more functional domains for a diagnosis of FAS. The "4-Digit Diagnostic Code" further elaborates the degree of CNS damage according to four ranks:
(small head size) of two or more standard deviations below the average, or other abnormalities in brain structure (e.g., agenesis of the corpus callosum
, cerebellar hypoplasia
).
Microcephaly is determined by comparing head circumference (often called occipitofrontal
circumference, or OFC) to appropriate OFC growth charts. Other structural impairments must be observed through medical imaging
techniques by a trained physician. Because imaging procedures are expensive and relatively inaccessible to most patients, diagnosis of FAS is not frequently made via structural impairments, except for microcephaly.
Evidence of a CNS structural impairment due to prenatal alcohol exposure will result in a diagnosis of FAS, and neurological and functional impairments are highly likely.
During the first trimester of pregnancy, alcohol interferes with the migration and organization of brain cell
s, which can create structural deformities or deficits within the brain. During the third trimester, damage can be caused to the hippocampus
, which plays a role in memory, learning, emotion, and encoding visual and auditory information, all of which can create neurological and functional CNS impairments as well.
As of 2002, there were 25 reports of autopsies
on infants known to have FAS. The first was in 1973, on an infant who died shortly after birth. The examination revealed extensive brain damage, including microcephaly
, migration anomalies, callosal dysgenesis, and a massive neuroglial, leptomeningeal heterotopia
covering the left hemisphere.
In 1977, Dr. Clarren described a second infant whose mother was a binge drinker. The infant died ten days after birth. The autopsy showed severe hydrocephalus
, abnormal neuronal migration, and a small corpus callosum
(which connects the two brain hemispheres
) and cerebellum
. FAS has also been linked to brainstem and cerebellar
changes, agenesis of the corpus callosum
and anterior commissure
, neuronal migration errors, absent olfactory bulb
s, meningomyelocele, and porencephaly
.
are caused by prenatal alcohol exposure which causes general neurological damage to the central nervous system
(CNS) and the peripheral nervous system
(PNS). A determination of a neurological problem must be made by a trained physician, and must not be due to a postnatal insult, such as a high fever
, concussion, traumatic brain injury
, etc.
All four diagnostic systems show virtual agreement on their criteria for CNS damage at the neurological level, and evidence of a CNS neurological impairment due to prenatal alcohol exposure will result in a diagnosis of FAS, and functional impairments are highly likely.
Neurological problems are expressed as either hard signs, or diagnosable disorders, such as epilepsy
or other seizure disorders, or soft signs. Soft signs are broader, nonspecific neurological impairments, or symptoms, such as impaired fine motor skills, neurosensory hearing loss, poor gait
, clumsiness
, poor eye-hand coordination. Many soft signs have norm-referenced criteria
, while others are determined through clinical judgment. "Clinical judgment" is only as good as the clinician, and soft signs should be assessed by either a pediatric neurologist, a pediatric neuropsychologist, or both.
Those affected have mild retardation.
The four diagnostic systems list various CNS domains that can qualify for functional impairment that can determine an FAS diagnosis:
.
An analysis of seven medical research studies involving over 130,000 pregnancies found that consuming two to 14 drinks per week did not significantly increase the risk of giving birth to a child with either malformations or fetal alcohol syndrome. Pregnant women who consume approximately 18 drinks per day have a 30-33% chance of having a baby with FAS.
A number of studies have shown that light drinking (1-2 drinks/week) during pregnancy does not appear to pose a risk to the fetus. A study of pregnancies in eight European countries found that consuming no more than one drink per day did not appear to have any effect on fetal growth.
A follow-up of children at 18 months of age found that those from women who drank during pregnancy, even two drinks per day, scored higher in several areas of development, though in a different study, as little as one drink per day resulted in poorer spelling and reading abilities at age 6 and a linear dose-response relationship was seen between prenatal alcohol exposure and poorer arithmetic scores at the same age.
Fetal alcohol syndrome is the only expression of FASD that has garnered consensus among experts to become an official ICD-9 and ICD-10
diagnosis. To make this diagnosis (or determine any FASD condition), a multi-disciplinary
evaluation is necessary to assess each of the four key features for assessment. Generally, a trained physician
will determine growth deficiency and FAS facial features. While a qualified physician may also assess central nervous system structural abnormalities and/or neurological problems, usually central nervous system damage is determined through psychological
assessment. A pediatric neuropsychologist may assess all areas of functioning, including intellectual, language processing, and sensorimotor. Prenatal alcohol exposure risk may be assessed by a qualified physician or psychologist
.
The following criteria must be fully met for an FAS diagnosis:
Alcohol intake is determined by interview of the biological mother or other family members knowledgeable of the mother's alcohol use during the pregnancy, prenatal health records, and review of available birth records, court records, chemical dependency treatment
records, or other reliable sources. Exposure level is assessed as Confirmed Exposure, Unknown Exposure, and Confirmed Absence of Exposure by the IOM, CDC and Canadian diagnostic systems. The "4-Digit Diagnostic Code" further distinguishes confirmed exposure as High Risk and Some Risk:
as five or more drinks per episode on five or more days during a 30 day period.
"The 4-Digit Diagnostic Code" ranking system distinguishes between levels of prenatal alcohol exposure as High Risk and Some Risk. It operationalizes high risk exposure as a blood alcohol concentration
(BAC) greater than 100 mg/dL delivered at least weekly in early pregnancy. This BAC level is typically reached by a 55 kg woman drinking six to eight beers in one sitting.
recommended in 1981, and again in 2005, that women abstain from alcohol use while pregnant or while planning a pregnancy, the latter to avoid damage in the earliest stages of a pregnancy, as the woman may not be aware that she has conceived
. In the United States, federal legislation has required that warning labels be placed on all alcoholic beverage containers since 1988 under the Alcoholic Beverage Labeling Act
.
interventions (i.e., psychoactive drug
s) are frequently tried on those with FAS because many FAS symptoms are mistaken for or overlap with other disorders, most notably ADHD.
interventions are predicated on learning theory
, which is the basis for many parenting
and professional
strategies and interventions. Along with ordinary parenting styles
, such strategies are frequently used by default for treating those with FAS, as the diagnoses Oppositional Defiance Disorder (ODD), Conduct Disorder
, Reactive Attachment Disorder
(RAD), etc. often overlap with FAS (along with ADHD), and these are sometimes thought to benefit from behavioral interventions. Frequently, a patient's poor academic achievement results in special education
services, which also utilizes principles of learning theory
, behavior modification
, and outcome-based education
.
Because the "learning system" of a patient with FAS is damaged, however, behavioral interventions are not always successful, or not successful in the long run, especially because overlapping disorders frequently stem from or are exacerbated by FAS. Kohn
(1999) suggests that a rewards-punishment system in general may work somewhat in the short term but is unsuccessful in the long term because that approach fails to consider content (i.e., things "worth" learning), community (i.e., safe, cooperative learning
environments), and choice (i.e., making choices
versus following directions). While these elements are important to consider when working with FAS and have some usefulness in treatment, they are not alone sufficient to promote better outcomes. Kohn's minority challenge to behavioral interventions does illustrate the importance of factors beyond learning theory when trying to promote improved outcomes for FAS, and supports a more multi-model approach that can be found in varying degrees within the advocacy model and neurobehavioral approach.
, even though most do not specify it as such and provide little theoretical background. Optimal human development generally occurs in identifiable stages (e.g., Jean Piaget
's theory of cognitive development
, Erik Erikson
's stages of psychosocial development
, John Bowlby
's attachment framework
, and other developmental stage theories). FAS interferes with normal development, which may cause stages to be delayed, skipped, or immaturely developed. Over time, an unaffected child can negotiate the increasing demands of life by progressing through stages of development normally, but not so for a child with FAS.
By knowing what developmental stages and tasks children follow, treatment and interventions for FAS can be tailored to helping a patient meet developmental tasks and demands successfully. If a patient is delayed in the adaptive behavior
domain, for instance, then interventions would be recommended to target specific delays through additional education and practice (e.g., practiced instruction on tying shoelaces), giving reminders, or making accommodations (e.g., using slip-on shoes) to support the desired functioning level. This approach is an advance over behavioral interventions, because it takes the patient's developmental context into account while developing interventions.
model takes the point of view that someone is needed to actively mediate between the environment and the person with FAS. Advocacy activities are conducted by an advocate (for example, a family member, friend, or case manager) and fall into three basic categories. An advocate for FAS: (1) interprets FAS and the disabilities that arise from it and explains it to the environment in which the patient operates, (2) engenders change or accommodation on behalf of the patient, and (3) assists the patient in developing and reaching attainable goals.
The advocacy model is often recommended, for example, when developing an Individualized Education Program
(IEP) for the patient's progress at school.
An understanding of the developmental framework would presumably inform and enhance the advocacy model, but advocacy also implies interventions at a systems level as well, such as educating schools, social workers, and so forth on best practices for FAS. However, several organizations devoted to FAS also use the advocacy model at a community practice
level as well.
underpinnings from which behavior
s and cognitive processes
arise. It is an integrative perspective that acknowledges and encourages a multi-modal array of treatment interventions that draw from all FAS treatment approaches. The neurobehavioral approach is a serious attempt at shifting single-perspective treatment approaches into a new, coherent paradigm that addresses the complexities of problem behaviors and cognitions emanating from the CNS damage of FAS.
The neurobehavioral approach's main proponent is Diane Malbin, MSW, a recognized speaker and trainer in the FASD field, who first articulated the approach with respect to FASD and characterizes it as "Trying differently rather than trying harder." The idea to try differently refers to trying different perspectives and intervention options based on effects of the CNS damage and particular needs of the patient, rather than trying harder at implementing behavioral-based interventions that have consistently failed over time to produce improved outcomes for a patient. This approach also encourages more strength-based interventions, which allow a patient to develop positive outcomes by promoting success linked to the patient's strengths and interests.
and public policy
levels promotes FAS prevention and diversion of public resources
to assist those with FAS. It is related to the advocacy model but promoted at a systems level (rather than with the individual or family), such as developing community education and supports, state or province level prevention efforts (e.g., screening for maternal alcohol use during OB/GYN or prenatal medical care visits), or national awareness programs. Several organizations and state agencies in the U.S. are dedicated to this type of intervention.
The exact mechanisms for functional problems of primary disabilities are not always fully understood, but animal studies
have begun to shed light on some correlates between functional problems and brain structures damaged by prenatal alcohol exposure. Representative examples include:
Functional difficulties may result from CNS damage in more than one domain, but common functional difficulties by domain include: (This is not an exhaustive list of difficulties.)
Six main secondary disabilities were identified in a University of Washington research study of 473 subjects diagnosed with FAS, PFAS (partial fetal alcohol syndrome), and ARND (alcohol-related neurodevelopmental disorder):
Two additional secondary disabilities exist for adult patients:
Malbin (2002) has identified the following areas of interests and talents as strengths that often stand out for those with FASD and should be utilized, like any strength, in treatment planning:
, ancient Greek
, and ancient Roman
sources imply a historical awareness of links between maternal alcohol use and negative child outcomes.
In Gaelic Scotland
, the mother and nurse were not allowed to consume ale
during pregnancy and breastfeeding (Martin Martin
).
The earliest recorded observation of possible links between maternal alcohol use and fetal damage was made in 1899 by Dr. William Sullivan, a Liverpool
prison physician who noted higher rates of stillbirth
for 120 alcoholic female prisoners than their sober female relatives; he suggested the causal agent to be alcohol use. This contradicted the predominating belief at the time that heredity caused mental retardation, poverty, and criminal behavior, which contemporary studies on the subjects usually concluded. A case study by Henry H. Goddard
of the Kallikak family — popular in the early 1900s — represents this earlier perspective, though later researchers have suggested that the Kallikaks almost certainly had FAS. General studies and discussions on alcoholism throughout the mid-1900s were typically based on a heredity argument.
Prior to fetal alcohol syndrome being specifically identified and named in 1973, a few studies had noted differences between the children of mothers who used alcohol during pregnancy
or breast-feeding and those who did not, but identified alcohol use as a possible contributing factor rather than heredity.
of the University of Washington
Medical School in Seattle, United States
. They identified a pattern of "craniofacial, limb, and cardiovascular defects associated with prenatal onset growth deficiency and developmental delay" in eight unrelated children of three ethnic groups, all born to mothers who were alcoholics. The pattern of malformations indicated that the damage was prenatal. News of the discovery shocked some, while others were skeptical of the findings.
Dr. Paul Lemoine of Nantes
, France had already published a study in a French medical journal in 1968 about children with distinctive features whose mothers were alcoholics, and in the U.S., Christy Ulleland and colleagues at the University of Washington Medical School had conducted an 18-month study in 1968–1969 documenting the risk of maternal alcohol consumption among the offspring of 11 alcoholic mothers. The Washington and Nantes findings were confirmed by a research group in Gothenburg
, Sweden
in 1979. Researchers in France, Sweden, and the United States
were struck by how similar these children looked, though they were not related, and how they behaved in the same unfocused and hyperactive manner.
Within nine years of the Washington discovery, animal studies, including non-human monkey
studies carried out at the University of Washington Primate Center by Dr. Sterling Clarren
, had confirmed that alcohol was a teratogen. By 1978, 245 cases of FAS had been reported by medical researchers, and the syndrome began to be described as the most frequent known cause of mental retardation
.
While many syndrome
s are eponym
ous, i.e. named after the physician first reporting the association of symptoms, Dr. Smith named FAS after the causal agent of the symptoms. He reasoned that doing so would encourage prevention, believing that if people knew maternal alcohol consumption caused the syndrome, then abstinence during pregnancy would follow from patient education
and public awareness. Nobody was aware of the full range of possible birth defects from FAS or its prevalence rate at that time, but admission of alcohol use during pregnancy can feel stigmatizing to birth mothers and complicate diagnostic efforts of a syndrome with its preventable cause in the name.
Over time, as subsequent research and clinical experience suggested that a range of effects (including physical, behavioral, and cognitive) could arise from prenatal alcohol exposure, the term Fetal Alcohol Spectrum Disorder
(FASD) was developed to include FAS as well as other conditions resulting from prenatal alcohol exposure. Currently, FAS is the only expression of prenatal alcohol exposure defined by the International Statistical Classification of Diseases and Related Health Problems
and assigned ICD-9 and diagnoses.
Surgeon General of the United States
The Surgeon General of the United States is the operational head of the Public Health Service Commissioned Corps and thus the leading spokesperson on matters of public health in the federal government...
and the British
United Kingdom
The United Kingdom of Great Britain and Northern IrelandIn the United Kingdom and Dependencies, other languages have been officially recognised as legitimate autochthonous languages under the European Charter for Regional or Minority Languages...
Department of Health
Department of Health (United Kingdom)
The Department of Health is a department of the United Kingdom government with responsibility for government policy for health and social care matters and for the National Health Service in England along with a few elements of the same matters which are not otherwise devolved to the Scottish,...
is to drink no alcohol at all during pregnancy.
Alcohol
Alcohol
In chemistry, an alcohol is an organic compound in which the hydroxy functional group is bound to a carbon atom. In particular, this carbon center should be saturated, having single bonds to three other atoms....
crosses the placental barrier and can stunt fetal growth or weight
Birth weight
Birth weight is the body weight of a baby at its birth.There have been numerous studies that have attempted, with varying degrees of success, to show links between birth weight and later-life conditions, including diabetes, obesity, tobacco smoking and intelligence.-Determinants:There are...
, create distinctive facial stigmata, damage neuron
Neuron
A neuron is an electrically excitable cell that processes and transmits information by electrical and chemical signaling. Chemical signaling occurs via synapses, specialized connections with other cells. Neurons connect to each other to form networks. Neurons are the core components of the nervous...
s and brain structures, which can result in psychological or behavioral problems, and cause other physical damage.
Surveys found that in the United States, 10–15% of pregnant women report having recently used alcohol, and up to 30% use alcohol at some point during pregnancy.
The main effect of FAS is permanent central nervous system damage
Brain damage
"Brain damage" or "brain injury" is the destruction or degeneration of brain cells. Brain injuries occur due to a wide range of internal and external factors...
, especially to the brain
Human brain
The human brain has the same general structure as the brains of other mammals, but is over three times larger than the brain of a typical mammal with an equivalent body size. Estimates for the number of neurons in the human brain range from 80 to 120 billion...
. Developing brain cell
Brain Cell
Brain Cell is a mail art project begun by Ryosuke Cohen in June 1985. The project is basically a networked art project where individual artists create their own 30x42cm work of art with stamps, drawings, stickers and so forth. This is sent to Cohen, who prints each cell - 150 copies each - with a...
s and structures can be malformed or have development interrupted by prenatal alcohol exposure; this can create an array of primary cognitive and functional disabilities (including poor memory
Memory
In psychology, memory is an organism's ability to store, retain, and recall information and experiences. Traditional studies of memory began in the fields of philosophy, including techniques of artificially enhancing memory....
, attention deficits, impulsive behavior, and poor cause-effect reasoning) as well as secondary disabilities (for example, predispositions to mental health problems
Mental illness
A mental disorder or mental illness is a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which is not a part of normal development or culture. Such a disorder may consist of a combination of affective, behavioural,...
and drug addiction
Substance dependence
The section about substance dependence in the Diagnostic and Statistical Manual of Mental Disorders does not use the word addiction at all. It explains:...
). Alcohol exposure presents a risk of fetal brain damage at any point during a pregnancy, since brain development is ongoing throughout pregnancy.
Fetal alcohol exposure is the leading known cause of intellectual disability
Intellectual disability
Intellectual disability is a broad concept encompassing various intellectual deficits, including mental retardation , deficits too mild to properly qualify as MR, various specific conditions , and problems acquired later in life through acquired brain injuries or neurodegenerative diseases like...
in the Western world.
In the United States
United States
The United States of America is a federal constitutional republic comprising fifty states and a federal district...
and Europe
Europe
Europe is, by convention, one of the world's seven continents. Comprising the westernmost peninsula of Eurasia, Europe is generally 'divided' from Asia to its east by the watershed divides of the Ural and Caucasus Mountains, the Ural River, the Caspian and Black Seas, and the waterways connecting...
, the FAS prevalence rate is estimated to be between 0.2-1.5 in every 1000 live births. The lifetime medical and social cost
Social cost
Social cost, in economics, is generally defined in opposition to "private cost". In economics, theorists model individual decision-making as measurement of costs and benefits...
s of FAS are estimated to be as high as US$800,000 per child born with the disorder.
Growth deficiency
Growth deficiency is defined as below average heightHuman height
Human height is the distance from the bottom of the feet to the top of the head in a human body standing erect.When populations share genetic background and environmental factors, average height is frequently characteristic within the group...
, weight or both due to prenatal alcohol exposure, and can be assessed at any point in the lifespan
Maximum life span
Maximum life span is a measure of the maximum amount of time one or more members of a population has been observed to survive between birth and death.Most living species have at least one upper limit on the number of times cells can divide...
. Growth measurements must be adjusted for parental height, gestational age
Gestational age
Gestational age relates to the age of an embryo or fetus . There is some ambiguity in how it is defined:*In embryology, gestational age is the time elapsed since conception. This interval is also termed fertilisation age....
(for a premature infant
Premature birth
In humans preterm birth refers to the birth of a baby of less than 37 weeks gestational age. The cause for preterm birth is in many situations elusive and unknown; many factors appear to be associated with the development of preterm birth, making the reduction of preterm birth a challenging...
), and other postnatal
Postnatal
Postnatal is the period beginning immediately after the birth of a child and extending for about six weeks. Another term would be postpartum period, as it refers to the mother...
insults (e.g., poor nutrition), although birth height and weight are the preferred measurements. Deficiencies are documented H191 when height or weight falls at or below the 10th percentile of standardized growth charts appropriate to the patient's population.
The CDC and Canadian guidelines use the 10th percentile as a cut-off to determine growth deficiency. The "4-Digit Diagnostic Code" allows for mid-range gradations in growth deficiency (between the 3rd and 10th percentiles) and severe growth deficiency at or below the 3rd percentile. Growth deficiency (at severe, moderate, or mild levels) contributes to diagnoses of FAS and PFAS (Partial Fetal Alcohol Syndrome), but not ARND (Alcohol-Related Neurodevelopmental Disorder) or static encephalopathy.
Growth deficiency is ranked as follows by the "4-Digit Diagnostic Code:"
- Severe — Height and weight at or below the 3rd percentile.
- Moderate — Either height or weight at or below the 3rd percentile, but not both.
- Mild — Both height and weight between the 3rd and 10th percentiles.
- None — Height and weight both above the 10th percentile.
Facial features
Several characteristic craniofacialCraniofacial
Craniofacial may be used to describe certain congenital malformations, injuries, surgeons who subspecialize in this area, multi-disciplinary medical-surgical teams that treat and do research on disorders affecting this region, and organizations with interest in...
abnormalities are often visible in individuals with FAS. The presence of FAS facial features indicates brain damage
Brain damage
"Brain damage" or "brain injury" is the destruction or degeneration of brain cells. Brain injuries occur due to a wide range of internal and external factors...
, though brain damage may also exist in their absence. FAS facial features (and most other visible, but non-diagnostic, deformities) are believed to be caused mainly during the 10th and 20th week of gestation.
Refinements in diagnostic criteria since 1975 have yielded three distinctive and diagnostically significant facial features known to result from prenatal alcohol exposure and distinguishes FAS from other disorders with partially overlapping characteristics. The three FAS facial features are:
- A smooth philtrumPhiltrumThe philtrum , is a medial cleft common to many mammals, extending from the nose to the upper lip, and, together with a glandular rhinarium and slit-like nostrils, is believed to constitute the primitive condition for mammals in general...
— The divot or groove between the nose and upper lip flattens with increased prenatal alcohol exposure. - Thin vermilion — The upper lipUpper lipThe upper lip covers the anterior surface of the body of the maxilla.Its upper half is of usual skin color and has a depression at its centre, directly under the nasal septum, called the philtrum, while its lower half is a markedly different, red-colored skin tone more similar to the colour of the...
thins with increased prenatal alcohol exposure. - Small palpebral fissurePalpebral fissurePalpebral fissure is the anatomic name for the separation between the upper and lower eyelids. In adults, this measures about 10mm vertically and 30mm horizontally.It can be reduced in horizontal size by fetal alcohol syndrome and in Williams Syndrome...
s — Eye width decreases with increased prenatal alcohol exposure.
Measurement of FAS facial features uses criteria developed by the University of Washington. The lip and philtrum are measured by a trained physician with the Lip-Philtrum Guide, a 5-point Likert Scale with representative photographs of lip and philtrum combinations ranging from normal (ranked 1) to severe (ranked 5). Palpebral fissure length (PFL) is measured in millimeters with either calipers or a clear ruler and then compared to a PFL growth chart, also developed by the University of Washington.
Ranking FAS facial features is complicated because the three separate facial features can be affected independently by prenatal alcohol. A summary of the criteria follows:
- Severe — All three facial features ranked independently as severe (lip ranked at 4 or 5, philtrum ranked at 4 or 5, and PFL two or more standard deviations below average).
- Moderate — Two facial features ranked as severe and one feature ranked as moderate (lip or philtrum ranked at 3, or PFL between one and two standard deviations below average).
- Mild — A mild ranking of FAS facial features covers a broad range of facial feature combinations:
- Two facial features ranked severe and one ranked within normal limits,
- One facial feature ranked severe and two ranked moderate, or
- One facial feature ranked severe, one ranked moderate and one ranked within normal limits.
- None — All three facial features ranked within normal limits.
These distinctive facial features in a patient do strongly correlate to brain damage. Sterling Clarren
Sterling Clarren
Sterling K. Clarren is one of the world's leading researchers into Fetal Alcohol Spectrum Disorder , an umbrella term encompassing fetal alcohol syndrome and fetal alcohol effects . He is the Robert A...
of the University of Washington's Fetal Alcohol and Drug Unit told a conference in 2002:
“I have never seen anybody with this whole face who doesn't have some brain damageBrain damage"Brain damage" or "brain injury" is the destruction or degeneration of brain cells. Brain injuries occur due to a wide range of internal and external factors...
. In fact in studies, as the face is more FAS-like, the brainHuman brainThe human brain has the same general structure as the brains of other mammals, but is over three times larger than the brain of a typical mammal with an equivalent body size. Estimates for the number of neurons in the human brain range from 80 to 120 billion...
is more likely to be abnormal. The only face that you would want to counsel people or predict the future about is the full FAS face. But the risk of brain damage increases as the eyes get smaller, as the philtrumPhiltrumThe philtrum , is a medial cleft common to many mammals, extending from the nose to the upper lip, and, together with a glandular rhinarium and slit-like nostrils, is believed to constitute the primitive condition for mammals in general...
gets flatter, and the lip gets thinner. The risk goes up but not the diagnosis.“
“At one-month gestationGestationGestation is the carrying of an embryo or fetus inside a female viviparous animal. Mammals during pregnancy can have one or more gestations at the same time ....
, the top end of your body is a brain, and at the very front end of that early brain, there is tissue that has been brain tissue. It stops being brain and gets ready to be your face ... Your eyeballHuman eyeThe human eye is an organ which reacts to light for several purposes. As a conscious sense organ, the eye allows vision. Rod and cone cells in the retina allow conscious light perception and vision including color differentiation and the perception of depth...
is also brain tissue. It's an extension of the second part of the brain. It started as brain and "popped out." So if you are going to look at parts of the brain from alcohol damage, or any kind of damage during pregnancy, eye malformations and midline facial malformations are going to be very actively related to the brain across syndromes ... and they certainly are with FAS.“
Central nervous system
Central nervous systemCentral nervous system
The central nervous system is the part of the nervous system that integrates the information that it receives from, and coordinates the activity of, all parts of the bodies of bilaterian animals—that is, all multicellular animals except sponges and radially symmetric animals such as jellyfish...
(CNS) damage is the primary feature of any Fetal Alcohol Spectrum Disorder (FASD) diagnosis. Prenatal exposure to alcohol — which is classified as a teratogen — can damage the brain across a continuum of gross to subtle impairments, depending on the amount, timing, and frequency of the exposure as well as genetic predispositions of the fetus and mother. While functional abnormalities are the behavioral and cognitive expressions of the FAS disability, CNS damage can be assessed in three areas: structural, neurological, and functional impairments.
All four diagnostic systems allow for assessment of CNS damage in these areas, but criteria vary. The IOM system requires structural or neurological impairment for a diagnosis of FAS. The "4-Digit Diagnostic Code" and CDC guidelines state that functional anomalies must measure at two standard deviations or worse in three or more functional domains for a diagnosis of FAS. The "4-Digit Diagnostic Code" further elaborates the degree of CNS damage according to four ranks:
- Definite — Structural impairments or neurological impairments for FAS or static encephalopathy.
- Probable — Significant dysfunction of two standard deviations or worse in three or more functional domains.
- Possible — Mild to moderate dysfunction of two standard deviations or worse in one or two functional domains or by judgment of the clinical evaluation team that CNS damage cannot be dismissed.
- Unlikely — No evidence of CNS damage.
Structural
Structural abnormalities of the brain are observable, physical damage to the brain or brain structures caused by prenatal alcohol exposure. Structural impairments may include microcephalyMicrocephaly
Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life...
(small head size) of two or more standard deviations below the average, or other abnormalities in brain structure (e.g., agenesis of the corpus callosum
Agenesis of the corpus callosum
Agenesis of the corpus callosum is a rare birth defect in which there is a complete or partial absence of the corpus callosum. Agenesis of the corpus callosum occurs when the corpus callosum, the band of white matter connecting the two hemispheres in the brain, fails to develop normally,...
, cerebellar hypoplasia
Cerebellar hypoplasia
Cerebellar hypoplasia is a developmental disorder characterized by the incomplete or underdevelopment of the cerebellum. It may be genetic or occur sporadically. Cerebellar hypoplasia may be caused by thyroid abnormalities, environmental influences such as drugs and chemicals or viral infections or...
).
Microcephaly is determined by comparing head circumference (often called occipitofrontal
Orbitofrontal cortex
The orbitofrontal cortex is a prefrontal cortex region in the frontal lobes in the brain which is involved in the cognitive processing of decision-making...
circumference, or OFC) to appropriate OFC growth charts. Other structural impairments must be observed through medical imaging
Medical imaging
Medical imaging is the technique and process used to create images of the human body for clinical purposes or medical science...
techniques by a trained physician. Because imaging procedures are expensive and relatively inaccessible to most patients, diagnosis of FAS is not frequently made via structural impairments, except for microcephaly.
Evidence of a CNS structural impairment due to prenatal alcohol exposure will result in a diagnosis of FAS, and neurological and functional impairments are highly likely.
During the first trimester of pregnancy, alcohol interferes with the migration and organization of brain cell
Brain Cell
Brain Cell is a mail art project begun by Ryosuke Cohen in June 1985. The project is basically a networked art project where individual artists create their own 30x42cm work of art with stamps, drawings, stickers and so forth. This is sent to Cohen, who prints each cell - 150 copies each - with a...
s, which can create structural deformities or deficits within the brain. During the third trimester, damage can be caused to the hippocampus
Hippocampus
The hippocampus is a major component of the brains of humans and other vertebrates. It belongs to the limbic system and plays important roles in the consolidation of information from short-term memory to long-term memory and spatial navigation. Humans and other mammals have two hippocampi, one in...
, which plays a role in memory, learning, emotion, and encoding visual and auditory information, all of which can create neurological and functional CNS impairments as well.
As of 2002, there were 25 reports of autopsies
Autopsy
An autopsy—also known as a post-mortem examination, necropsy , autopsia cadaverum, or obduction—is a highly specialized surgical procedure that consists of a thorough examination of a corpse to determine the cause and manner of death and to evaluate any disease or injury that may be present...
on infants known to have FAS. The first was in 1973, on an infant who died shortly after birth. The examination revealed extensive brain damage, including microcephaly
Microcephaly
Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life...
, migration anomalies, callosal dysgenesis, and a massive neuroglial, leptomeningeal heterotopia
Heterotopia (medicine)
In medicine, "heterotopia" refers to normal tissue present at an abnormal site or the displacement of an organ or part of an organ from its normal position. For example, gray matter heterotopia, the displacement of gray matter into the cerebral white matter or ventricles...
covering the left hemisphere.
In 1977, Dr. Clarren described a second infant whose mother was a binge drinker. The infant died ten days after birth. The autopsy showed severe hydrocephalus
Hydrocephalus
Hydrocephalus , also known as "water in the brain," is a medical condition in which there is an abnormal accumulation of cerebrospinal fluid in the ventricles, or cavities, of the brain. This may cause increased intracranial pressure inside the skull and progressive enlargement of the head,...
, abnormal neuronal migration, and a small corpus callosum
Corpus callosum
The corpus callosum , also known as the colossal commissure, is a wide, flat bundle of neural fibers beneath the cortex in the eutherian brain at the longitudinal fissure. It connects the left and right cerebral hemispheres and facilitates interhemispheric communication...
(which connects the two brain hemispheres
Cerebral hemisphere
A cerebral hemisphere is one of the two regions of the eutherian brain that are delineated by the median plane, . The brain can thus be described as being divided into left and right cerebral hemispheres. Each of these hemispheres has an outer layer of grey matter called the cerebral cortex that is...
) and cerebellum
Cerebellum
The cerebellum is a region of the brain that plays an important role in motor control. It may also be involved in some cognitive functions such as attention and language, and in regulating fear and pleasure responses, but its movement-related functions are the most solidly established...
. FAS has also been linked to brainstem and cerebellar
Cerebellum
The cerebellum is a region of the brain that plays an important role in motor control. It may also be involved in some cognitive functions such as attention and language, and in regulating fear and pleasure responses, but its movement-related functions are the most solidly established...
changes, agenesis of the corpus callosum
Corpus callosum
The corpus callosum , also known as the colossal commissure, is a wide, flat bundle of neural fibers beneath the cortex in the eutherian brain at the longitudinal fissure. It connects the left and right cerebral hemispheres and facilitates interhemispheric communication...
and anterior commissure
Anterior commissure
The anterior commissure is a bundle of nerve fibers , connecting the two cerebral hemispheres across the midline, and placed in front of the columns of the fornix...
, neuronal migration errors, absent olfactory bulb
Olfactory bulb
The olfactory bulb is a structure of the vertebrate forebrain involved in olfaction, the perception of odors.-Anatomy:In most vertebrates, the olfactory bulb is the most rostral part of the brain. In humans, however, the olfactory bulb is on the inferior side of the brain...
s, meningomyelocele, and porencephaly
Porencephaly
Porencephaly is a type of cephalic disorder involving encephalomalacia. This is an extremely rare disorder of the central nervous system involving a cyst or cavity in a cerebral hemisphere. The cysts or cavities are usually the remnants of destructive lesions, but are sometimes the result of...
.
Neurological
When structural impairments are not observable or do not exist, neurological impairments are assessed. In the context of FAS, neurological impairmentsNeurology
Neurology is a medical specialty dealing with disorders of the nervous system. Specifically, it deals with the diagnosis and treatment of all categories of disease involving the central, peripheral, and autonomic nervous systems, including their coverings, blood vessels, and all effector tissue,...
are caused by prenatal alcohol exposure which causes general neurological damage to the central nervous system
Central nervous system
The central nervous system is the part of the nervous system that integrates the information that it receives from, and coordinates the activity of, all parts of the bodies of bilaterian animals—that is, all multicellular animals except sponges and radially symmetric animals such as jellyfish...
(CNS) and the peripheral nervous system
Peripheral nervous system
The peripheral nervous system consists of the nerves and ganglia outside of the brain and spinal cord. The main function of the PNS is to connect the central nervous system to the limbs and organs. Unlike the CNS, the PNS is not protected by the bone of spine and skull, or by the blood–brain...
(PNS). A determination of a neurological problem must be made by a trained physician, and must not be due to a postnatal insult, such as a high fever
Fever
Fever is a common medical sign characterized by an elevation of temperature above the normal range of due to an increase in the body temperature regulatory set-point. This increase in set-point triggers increased muscle tone and shivering.As a person's temperature increases, there is, in...
, concussion, traumatic brain injury
Traumatic brain injury
Traumatic brain injury , also known as intracranial injury, occurs when an external force traumatically injures the brain. TBI can be classified based on severity, mechanism , or other features...
, etc.
All four diagnostic systems show virtual agreement on their criteria for CNS damage at the neurological level, and evidence of a CNS neurological impairment due to prenatal alcohol exposure will result in a diagnosis of FAS, and functional impairments are highly likely.
Neurological problems are expressed as either hard signs, or diagnosable disorders, such as epilepsy
Epilepsy
Epilepsy is a common chronic neurological disorder characterized by seizures. These seizures are transient signs and/or symptoms of abnormal, excessive or hypersynchronous neuronal activity in the brain.About 50 million people worldwide have epilepsy, and nearly two out of every three new cases...
or other seizure disorders, or soft signs. Soft signs are broader, nonspecific neurological impairments, or symptoms, such as impaired fine motor skills, neurosensory hearing loss, poor gait
Gait (human)
Human gait is the way locomotion is achieved using human limbs. Different gaits are characterized by differences in limb movement patterns, overall velocity, forces, kinetic and potential energy cycles, and changes in the contact with the surface .- Foot strike :One variable in different gaits is...
, clumsiness
Dyspraxia
Developmental dyspraxia is a motor learning difficulty that can affect planning of movements and co-ordination as a result of brain messages not being accurately transmitted to the body...
, poor eye-hand coordination. Many soft signs have norm-referenced criteria
Norm-referenced test
A norm-referenced test is a type of test, assessment, or evaluation which yields an estimate of the position of the tested individual in a predefined population, with respect to the trait being measured. This estimate is derived from the analysis of test scores and possibly other relevant data...
, while others are determined through clinical judgment. "Clinical judgment" is only as good as the clinician, and soft signs should be assessed by either a pediatric neurologist, a pediatric neuropsychologist, or both.
Those affected have mild retardation.
Functional
When structural or neurological impairments are not observed, all four diagnostic systems allow CNS damage due to prenatal alcohol exposure to be assessed in terms of functional impairments. Functional impairments are deficits, problems, delays, or abnormalities due to prenatal alcohol exposure (rather than hereditary causes or postnatal insults) in observable and measurable domains related to daily functioning, often referred to as developmental disabilities. There is no consensus on a specific pattern of functional impairments due to prenatal alcohol exposure and only CDC guidelines label developmental delays as such, so criteria vary somewhat across diagnostic systems.The four diagnostic systems list various CNS domains that can qualify for functional impairment that can determine an FAS diagnosis:
- Evidence of a complex pattern of behavior or cognitive abnormalities inconsistent with developmental level in the following CNS domains — sufficient for a PFAS (partial fetal alcohol syndrome) or ARND (alcohol-related neurodevelopmental disorder) diagnosis using IOM guidelines
- Learning disabilitiesLearning disabilityLearning disability is a classification including several disorders in which a person has difficulty learning in a typical manner, usually caused by an unknown factor or factors...
, academic achievement, impulse controlDeferred gratificationDeferred gratification and delayed gratification denote a person’s ability to wait in order to obtain something that he or she wants. This intellectual attribute is also called impulse control, will power, self control, and “low” time preference, in economics...
, social perceptionSocial learning (social pedagogy)Social learning is learning that takes place at a wider scale than individual or group learning, up to a societal scale, through social interaction between peers. It may or may not lead to a change in attitudes and behaviour...
, communicationCommunicationCommunication is the activity of conveying meaningful information. Communication requires a sender, a message, and an intended recipient, although the receiver need not be present or aware of the sender's intent to communicate at the time of communication; thus communication can occur across vast...
, abstractionAbstractionAbstraction is a process by which higher concepts are derived from the usage and classification of literal concepts, first principles, or other methods....
, math skills, memoryMemoryIn psychology, memory is an organism's ability to store, retain, and recall information and experiences. Traditional studies of memory began in the fields of philosophy, including techniques of artificially enhancing memory....
, attentionAttentionAttention is the cognitive process of paying attention to one aspect of the environment while ignoring others. Attention is one of the most intensely studied topics within psychology and cognitive neuroscience....
, judgment
- Learning disabilities
- Performance at two or more standard deviationStandard deviationStandard deviation is a widely used measure of variability or diversity used in statistics and probability theory. It shows how much variation or "dispersion" there is from the average...
s on standardized testing in three or more of the following CNS domains — sufficient for a FAS, PFAS or static encephalopathy diagnosis using 4-Digit Diagnostic Code- Executive functioning, memoryMemoryIn psychology, memory is an organism's ability to store, retain, and recall information and experiences. Traditional studies of memory began in the fields of philosophy, including techniques of artificially enhancing memory....
, cognitionCognitionIn science, cognition refers to mental processes. These processes include attention, remembering, producing and understanding language, solving problems, and making decisions. Cognition is studied in various disciplines such as psychology, philosophy, linguistics, and computer science...
, social/adaptive skillsAdaptive behaviorAdaptive behavior is a type of behavior that is used to adjust to another type of behavior or situation. This is often characterized by a kind of behavior that allows an individual to change an unconstructive or disruptive behavior to something more constructive. These behaviors are most often...
, academic achievement, languageCommunicationCommunication is the activity of conveying meaningful information. Communication requires a sender, a message, and an intended recipient, although the receiver need not be present or aware of the sender's intent to communicate at the time of communication; thus communication can occur across vast...
, motor skillMotor skillA motor skill is a learned sequence of movements that combine to produce a smooth, efficient action in order to master a particular task. The development of motor skill occurs in the motor cortex, the region of the cerebral cortex that controls voluntary muscle groups.- Development of motor skills...
s, attentionAttentionAttention is the cognitive process of paying attention to one aspect of the environment while ignoring others. Attention is one of the most intensely studied topics within psychology and cognitive neuroscience....
, activity level
- Executive functioning, memory
- General cognitive deficits (e.g., IQ) at or below the 3rd percentile on standardized testing — sufficient for an FAS diagnosis using CDC guidelines
- Performance at or below the 16th percentile on standardized testing in three or more of the following CNS domains — sufficient for an FAS diagnosis using CDC guidelines
- CognitionCognitionIn science, cognition refers to mental processes. These processes include attention, remembering, producing and understanding language, solving problems, and making decisions. Cognition is studied in various disciplines such as psychology, philosophy, linguistics, and computer science...
, executive functioning, motor functioningMotor skillA motor skill is a learned sequence of movements that combine to produce a smooth, efficient action in order to master a particular task. The development of motor skill occurs in the motor cortex, the region of the cerebral cortex that controls voluntary muscle groups.- Development of motor skills...
, attention and hyperactive problems, social skillsSocial skillsA social skill is any skill facilitating interaction and communication with others. Social rules and relations are created, communicated, and changed in verbal and nonverbal ways. The process of learning such skills is called socialization...
, sensory integration dysfunctionSensory Integration DysfunctionSensory integration dysfunction is a neurological disorder characterized by a neurological sensory integration deficit. The more current diagnostic nosology uses the term sensory processing disorder to describe this condition....
, social communicationCommunicationCommunication is the activity of conveying meaningful information. Communication requires a sender, a message, and an intended recipient, although the receiver need not be present or aware of the sender's intent to communicate at the time of communication; thus communication can occur across vast...
, memoryMemoryIn psychology, memory is an organism's ability to store, retain, and recall information and experiences. Traditional studies of memory began in the fields of philosophy, including techniques of artificially enhancing memory....
, difficulties responding to common parentingParentingParenting is the process of promoting and supporting the physical, emotional, social, and intellectual development of a child from infancy to adulthood...
practices
- Cognition
- Performance at two or more standard deviationStandard deviationStandard deviation is a widely used measure of variability or diversity used in statistics and probability theory. It shows how much variation or "dispersion" there is from the average...
s on standardized testing in three or more of the following CNS domains — sufficient for an FAS diagnosis using Canadian guidelines- CognitionCognitionIn science, cognition refers to mental processes. These processes include attention, remembering, producing and understanding language, solving problems, and making decisions. Cognition is studied in various disciplines such as psychology, philosophy, linguistics, and computer science...
, communicationCommunicationCommunication is the activity of conveying meaningful information. Communication requires a sender, a message, and an intended recipient, although the receiver need not be present or aware of the sender's intent to communicate at the time of communication; thus communication can occur across vast...
, academic achievement, memoryMemoryIn psychology, memory is an organism's ability to store, retain, and recall information and experiences. Traditional studies of memory began in the fields of philosophy, including techniques of artificially enhancing memory....
, executive functioning, adaptive behaviorAdaptive behaviorAdaptive behavior is a type of behavior that is used to adjust to another type of behavior or situation. This is often characterized by a kind of behavior that allows an individual to change an unconstructive or disruptive behavior to something more constructive. These behaviors are most often...
, social skillsSocial skillsA social skill is any skill facilitating interaction and communication with others. Social rules and relations are created, communicated, and changed in verbal and nonverbal ways. The process of learning such skills is called socialization...
, social communicationCommunicationCommunication is the activity of conveying meaningful information. Communication requires a sender, a message, and an intended recipient, although the receiver need not be present or aware of the sender's intent to communicate at the time of communication; thus communication can occur across vast...
- Cognition
Related signs
Other conditions may commonly co-occur with FAS, stemming from prenatal alcohol exposure. However, these conditions are considered Alcohol-Related Birth Defects and not diagnostic criteria for FAS.- Cardiac — A heart murmurHeart murmurMurmurs are extra heart sounds that are produced as a result of turbulent blood flow that is sufficient to produce audible noise. Most murmurs can only be heard with the assistance of a stethoscope ....
that frequently disappears by one year of age. Ventricular septal defectVentricular septal defectA ventricular septal defect is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart.The ventricular septum consists of an inferior muscular and superior membranous portion and is extensively innervated with conducting cardiomyocytes.The membranous...
most commonly seen, followed by an atrial septal defectAtrial septal defectAtrial septal defect is a form of congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The interatrial septum is the tissue that divides the right and left atria...
. - Skeletal — JointJointA joint is the location at which two or more bones make contact. They are constructed to allow movement and provide mechanical support, and are classified structurally and functionally.-Classification:...
anomalies including abnormal position and function, altered palmar crease patterns, small distal phalanges, and small fifth fingernails. - Renal — HorseshoeHorseshoe kidneyHorseshoe kidney, also known as renal fusion or super kidney, is a congenital disorder affecting about 1 in 400 people. In this disorder, the patient's kidneys fuse together to form a horseshoe-shape during development in the womb...
, aplastic, dysplastic, or hypoplastic kidneyKidneyThe kidneys, organs with several functions, serve essential regulatory roles in most animals, including vertebrates and some invertebrates. They are essential in the urinary system and also serve homeostatic functions such as the regulation of electrolytes, maintenance of acid–base balance, and...
s. - Ocular — StrabismusStrabismusStrabismus is a condition in which the eyes are not properly aligned with each other. It typically involves a lack of coordination between the extraocular muscles, which prevents bringing the gaze of each eye to the same point in space and preventing proper binocular vision, which may adversely...
, optic nerve hypoplasiaOptic nerve hypoplasiaOptic nerve hypoplasia is a medical condition arising from the underdevelopment of the optic nerve. This condition is the most common congenital optic nerve anomaly. The optic disc appears abnormally small, because not all the optic nerve axons have developed properly...
(which may cause light sensitivityLight sensitivityLight sensitivity or photosensitivity is an increase in the reactivity of the skin to sunlight. Apart from vision, human beings have many physiological and psychological responses to light. In rare individuals an atypical response may result in serious discomfort, disease, or injury. Some drugs...
, decreased visual acuityVisual acuityVisual acuity is acuteness or clearness of vision, which is dependent on the sharpness of the retinal focus within the eye and the sensitivity of the interpretative faculty of the brain....
, or involuntary eye movements). - Occasional abnormalities — ptosisPtosis (eyelid)Ptosis is a drooping of the upper or lower eyelid. The drooping may be worse after being awake longer, when the individual's muscles are tired. This condition is sometimes called "lazy eye", but that term normally refers to amblyopia...
of the eyelid, microophthalmia, cleft lip with or without a cleft palate, webbed neck, short neck, tetralogy of FallotTetralogy of FallotTetralogy of Fallot is a congenital heart defect which is classically understood to involve four anatomical abnormalities...
, coarctation of the aorta, spina bifidaSpina bifidaSpina bifida is a developmental congenital disorder caused by the incomplete closing of the embryonic neural tube. Some vertebrae overlying the spinal cord are not fully formed and remain unfused and open. If the opening is large enough, this allows a portion of the spinal cord to protrude through...
, and hydrocephalusHydrocephalusHydrocephalus , also known as "water in the brain," is a medical condition in which there is an abnormal accumulation of cerebrospinal fluid in the ventricles, or cavities, of the brain. This may cause increased intracranial pressure inside the skull and progressive enlargement of the head,...
.
Cause
Prenatal alcohol exposure is the cause of fetal alcohol syndrome. A study of over 400,000 American women, all of whom had consumed alcohol during pregnancy, concluded that consumption of 15 drinks or more per week was associated with a reduction in birth weight. Though consumption of less than 15 drinks per week was not proven to cause FAS-related effects, the study authors recommend limiting consumption to no more than one standard drink per day. Also, threshold values are based upon group averages, and it is not appropriate to conclude that exposure below this threshold is necessarily ‘safe’ because of the significant individual variations in alcohol pharmacokineticsPharmacokinetics
Pharmacokinetics, sometimes abbreviated as PK, is a branch of pharmacology dedicated to the determination of the fate of substances administered externally to a living organism...
.
An analysis of seven medical research studies involving over 130,000 pregnancies found that consuming two to 14 drinks per week did not significantly increase the risk of giving birth to a child with either malformations or fetal alcohol syndrome. Pregnant women who consume approximately 18 drinks per day have a 30-33% chance of having a baby with FAS.
A number of studies have shown that light drinking (1-2 drinks/week) during pregnancy does not appear to pose a risk to the fetus. A study of pregnancies in eight European countries found that consuming no more than one drink per day did not appear to have any effect on fetal growth.
A follow-up of children at 18 months of age found that those from women who drank during pregnancy, even two drinks per day, scored higher in several areas of development, though in a different study, as little as one drink per day resulted in poorer spelling and reading abilities at age 6 and a linear dose-response relationship was seen between prenatal alcohol exposure and poorer arithmetic scores at the same age.
Diagnosis
Several diagnostic systems have been developed in North America:- The Institute of MedicineInstitute of MedicineThe Institute of Medicine is a not-for-profit, non-governmental American organization founded in 1970, under the congressional charter of the National Academy of Sciences...
's guidelines for FAS, the first system to standardize diagnoses of individuals with prenatal alcohol exposure, - The University of WashingtonUniversity of WashingtonUniversity of Washington is a public research university, founded in 1861 in Seattle, Washington, United States. The UW is the largest university in the Northwest and the oldest public university on the West Coast. The university has three campuses, with its largest campus in the University...
's "The 4-Digit Diagnostic Code," which ranks the four key features of FASD on a Likert scaleLikert scaleA Likert scale is a psychometric scale commonly involved in research that employs questionnaires. It is the most widely used approach to scaling responses in survey research, such that the term is often used interchangeably with rating scale, or more accurately the Likert-type scale, even though...
of one to four and yields 256 descriptive codes that can be categorized into 22 distinct clinical categories, ranging from FAS to no findings. - The Centers for Disease Control's "Fetal Alcohol Syndrome: Guidelines for Referral and Diagnosis," which established general consensus on the diagnosis FAS in the U.S. but deferred addressing other FASD conditions, and
- Canadian guidelines for FASD diagnosis, which established criteria for diagnosing FASD in CanadaCanadaCanada is a North American country consisting of ten provinces and three territories. Located in the northern part of the continent, it extends from the Atlantic Ocean in the east to the Pacific Ocean in the west, and northward into the Arctic Ocean...
and harmonized most differences between the IOM and University of Washington's systems.
Fetal alcohol syndrome is the only expression of FASD that has garnered consensus among experts to become an official ICD-9 and ICD-10
ICD-10
The International Statistical Classification of Diseases and Related Health Problems, 10th Revision is a medical classification list for the coding of diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases, as maintained by the...
diagnosis. To make this diagnosis (or determine any FASD condition), a multi-disciplinary
Interdisciplinarity
Interdisciplinarity involves the combining of two or more academic fields into one single discipline. An interdisciplinary field crosses traditional boundaries between academic disciplines or schools of thought, as new needs and professions have emerged....
evaluation is necessary to assess each of the four key features for assessment. Generally, a trained physician
Physician
A physician is a health care provider who practices the profession of medicine, which is concerned with promoting, maintaining or restoring human health through the study, diagnosis, and treatment of disease, injury and other physical and mental impairments...
will determine growth deficiency and FAS facial features. While a qualified physician may also assess central nervous system structural abnormalities and/or neurological problems, usually central nervous system damage is determined through psychological
Psychological testing
Psychological testing is a field characterized by the use of samples of behavior in order to assess psychological construct, such as cognitive and emotional functioning, about a given individual. The technical term for the science behind psychological testing is psychometrics...
assessment. A pediatric neuropsychologist may assess all areas of functioning, including intellectual, language processing, and sensorimotor. Prenatal alcohol exposure risk may be assessed by a qualified physician or psychologist
Psychologist
Psychologist is a professional or academic title used by individuals who are either:* Clinical professionals who work with patients in a variety of therapeutic contexts .* Scientists conducting psychological research or teaching psychology in a college...
.
The following criteria must be fully met for an FAS diagnosis:
- Growth deficiency — Prenatal or postnatal height or weight (or both) at or below the 10th percentile
- FAS facial features — All three FAS facial features present
- Central nervous system damage — Clinically significant structural, neurological, or functional impairment
- Prenatal alcohol exposure — Confirmed or Unknown prenatal alcohol exposure
Alcohol intake is determined by interview of the biological mother or other family members knowledgeable of the mother's alcohol use during the pregnancy, prenatal health records, and review of available birth records, court records, chemical dependency treatment
Drug rehabilitation
Drug rehabilitation is a term for the processes of medical or psychotherapeutic treatment, for dependency on psychoactive substances such as alcohol, prescription drugs, and so-called street drugs such as cocaine, heroin or amphetamines...
records, or other reliable sources. Exposure level is assessed as Confirmed Exposure, Unknown Exposure, and Confirmed Absence of Exposure by the IOM, CDC and Canadian diagnostic systems. The "4-Digit Diagnostic Code" further distinguishes confirmed exposure as High Risk and Some Risk:
- High Risk — Confirmed use of alcohol during pregnancy known to be at high blood alcohol levelsBlood alcohol contentBlood alcohol content , also called blood alcohol concentration, blood ethanol concentration, or blood alcohol level is most commonly used as a metric of alcohol intoxication for legal or medical purposes....
(100 mg/dL or greater) delivered at least weekly in early pregnancy. - Some Risk — Confirmed use of alcohol during pregnancy with use less than High Risk or unknown usage patterns.
- Unknown Risk — Unknown use of alcohol during pregnancy.
- No Risk — Confirmed absence of prenatal alcohol exposure, which rules out an FAS diagnosis.
Confirmed exposure
Amount, frequency, and timing of prenatal alcohol use can dramatically impact the other three key features of FAS. While consensus exists that alcohol is a teratogen, there is no clear consensus as to what level of exposure is toxic. The CDC guidelines are silent on these elements diagnostically. The IOM and Canadian guidelines explore this further, acknowledging the importance of significant alcohol exposure from regular or heavy episodic alcohol consumption in determining, but offer no standard for diagnosis. Canadian guidelines discuss this lack of clarity and parenthetically point out that "heavy alcohol use" is defined by the National Institute on Alcohol Abuse and AlcoholismNational Institute on Alcohol Abuse and Alcoholism
The National Institute on Alcohol Abuse and Alcoholism , as part of the U.S. National Institutes of Health, supports and conducts biomedical and behavioral research on the causes, consequences, treatment, and prevention of alcoholism and alcohol-related problems...
as five or more drinks per episode on five or more days during a 30 day period.
"The 4-Digit Diagnostic Code" ranking system distinguishes between levels of prenatal alcohol exposure as High Risk and Some Risk. It operationalizes high risk exposure as a blood alcohol concentration
Blood alcohol content
Blood alcohol content , also called blood alcohol concentration, blood ethanol concentration, or blood alcohol level is most commonly used as a metric of alcohol intoxication for legal or medical purposes....
(BAC) greater than 100 mg/dL delivered at least weekly in early pregnancy. This BAC level is typically reached by a 55 kg woman drinking six to eight beers in one sitting.
Unknown exposure
For many adopted or adult patients and children in foster care, records or other reliable sources may not be available for review. Reporting alcohol use during pregnancy can also be stigmatizing to birth mothers, especially if alcohol use is ongoing. In these cases, all diagnostic systems use an unknown prenatal alcohol exposure designation. A diagnosis of FAS is still possible with an unknown exposure level if other key features of FASD are present at clinical levels.Differential diagnosis
The CDC reviewed nine syndromes that have overlapping features with FAS; however, none of these syndromes include all three FAS facial features, and none are the result of prenatal alcohol exposure:- Aarskog syndrome
- Williams syndromeWilliams syndromeWilliams syndrome is a rare neurodevelopmental disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as...
- Noonan syndromeNoonan syndromeNoonan Syndrome is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome ; however, the genetic causes of Noonan syndrome and Turner syndrome...
- Dubowitz syndromeICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities- nervous system :* Anencephaly and similar malformations** Anencephaly*** Acephaly*** Acrania*** Amyelencephaly*** Hemianencephaly*** Hemicephaly** Craniorachischisis** Iniencephaly* Encephalocele* Microcephaly* Congenital hydrocephalus...
- Brachman-DeLange syndromeCornelia de Lange SyndromeCornelia de Lange Syndrome often termed as Bushy Syndrome is a genetic disorder that can lead to severe developmental anomalies. It affects the physical and intellectual development of a child. Exact incidence is unknown, but it is estimated at 1 in 10,000 to 30,000.! Appx...
- Toluene syndromeToluene (toxicology)-Metabolism in humans:While a significant amount of toluene, 25%-40%, is exhaled unchanged via the lungs, a greater proportion is metabolised and excreted via other pathways. The primary route of toluene metabolism is by hydroxylation to benzyl alcohol by members of the cytochrome P450 superfamily...
- Fetal hydantoin syndrome
- Fetal valproate syndromeNeural tube defectsNeural tube defects are one of the most common birth defects, occurring in approximately one in 1,000 live births in the United States. An NTD is an opening in the spinal cord or brain that occurs very early in human development. In the 2nd week of pregnancy called gastrulation, specialized cells...
- Maternal PKUPhenylketonuriaPhenylketonuria is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase , rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine...
fetal effects
Prevention
The only certain way to prevent FAS is to simply avoid drinking alcohol during pregnancy. In the United States, the Surgeon GeneralSurgeon General of the United States
The Surgeon General of the United States is the operational head of the Public Health Service Commissioned Corps and thus the leading spokesperson on matters of public health in the federal government...
recommended in 1981, and again in 2005, that women abstain from alcohol use while pregnant or while planning a pregnancy, the latter to avoid damage in the earliest stages of a pregnancy, as the woman may not be aware that she has conceived
Fertilisation
Fertilisation is the fusion of gametes to produce a new organism. In animals, the process involves the fusion of an ovum with a sperm, which eventually leads to the development of an embryo...
. In the United States, federal legislation has required that warning labels be placed on all alcoholic beverage containers since 1988 under the Alcoholic Beverage Labeling Act
Alcoholic Beverage Labeling Act
The Alcoholic Beverage Labeling Act of the Anti-Drug Abuse Act of 1988, , , is a United States federal law requiring that the labels of alcoholic beverages carry a government warning.The warning reads:...
.
Treatment
There is no cure for FAS, because the CNS damage creates a permanent disability, but treatment is possible. Because CNS damage, symptoms, secondary disabilities, and needs vary widely by individual, there is no one treatment type that works for everyone.Medical interventions
Traditional medicalMedical model
Medical model is the term cited by psychiatrist Ronald D. Laing in his The Politics of the Family and Other Essays , for the "set of procedures in which all doctors are trained." This set includes complaint, history, physical examination, ancillary tests if needed, diagnosis, treatment, and...
interventions (i.e., psychoactive drug
Psychoactive drug
A psychoactive drug, psychopharmaceutical, or psychotropic is a chemical substance that crosses the blood–brain barrier and acts primarily upon the central nervous system where it affects brain function, resulting in changes in perception, mood, consciousness, cognition, and behavior...
s) are frequently tried on those with FAS because many FAS symptoms are mistaken for or overlap with other disorders, most notably ADHD.
Behavioral interventions
Traditional behavioralBehaviorism
Behaviorism , also called the learning perspective , is a philosophy of psychology based on the proposition that all things that organisms do—including acting, thinking, and feeling—can and should be regarded as behaviors, and that psychological disorders are best treated by altering behavior...
interventions are predicated on learning theory
Learning theory (education)
In psychology and education, learning is commonly defined as a process that brings together cognitive, emotional, and environmental influences and experiences for acquiring, enhancing, or making changes in one's knowledge, skills, values, and world views . Learning as a process focuses on what...
, which is the basis for many parenting
Parenting
Parenting is the process of promoting and supporting the physical, emotional, social, and intellectual development of a child from infancy to adulthood...
and professional
Psychology
Psychology is the study of the mind and behavior. Its immediate goal is to understand individuals and groups by both establishing general principles and researching specific cases. For many, the ultimate goal of psychology is to benefit society...
strategies and interventions. Along with ordinary parenting styles
Parenting styles
A parenting style is a psychological construct representing standard strategies that parents use in their child rearing. There are many differing theories and opinions on the best ways to rear children, as well as differing levels of time and effort that parents are willing to invest.Many parents...
, such strategies are frequently used by default for treating those with FAS, as the diagnoses Oppositional Defiance Disorder (ODD), Conduct Disorder
Conduct disorder
Conduct disorder is psychological disorder diagnosed in childhood that presents itself through a repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate norms are violated...
, Reactive Attachment Disorder
Reactive attachment disorder
Reactive attachment disorder is described in clinical literature as a severe and relatively uncommon disorder that can affect children. RAD is characterized by markedly disturbed and developmentally inappropriate ways of relating socially in most contexts...
(RAD), etc. often overlap with FAS (along with ADHD), and these are sometimes thought to benefit from behavioral interventions. Frequently, a patient's poor academic achievement results in special education
Special education
Special education is the education of students with special needs in a way that addresses the students' individual differences and needs. Ideally, this process involves the individually planned and systematically monitored arrangement of teaching procedures, adapted equipment and materials,...
services, which also utilizes principles of learning theory
Learning theory (education)
In psychology and education, learning is commonly defined as a process that brings together cognitive, emotional, and environmental influences and experiences for acquiring, enhancing, or making changes in one's knowledge, skills, values, and world views . Learning as a process focuses on what...
, behavior modification
Behavior modification
Behavior modification is the use of empirically demonstrated behavior change techniques to increase or decrease the frequency of behaviors, such as altering an individual's behaviors and reactions to stimuli through positive and negative reinforcement of adaptive behavior and/or the reduction of...
, and outcome-based education
Outcome-based education
Outcome-based education is a recurring education reform model. It is a student-centered learning philosophy that focuses on empirically measuring student performance, which are called outcomes. OBE contrasts with traditional education, which primarily focuses on the resources that are available...
.
Because the "learning system" of a patient with FAS is damaged, however, behavioral interventions are not always successful, or not successful in the long run, especially because overlapping disorders frequently stem from or are exacerbated by FAS. Kohn
Alfie Kohn
Alfie Kohn is an American author and lecturer who has explored a number of topics in education, parenting, and human behavior...
(1999) suggests that a rewards-punishment system in general may work somewhat in the short term but is unsuccessful in the long term because that approach fails to consider content (i.e., things "worth" learning), community (i.e., safe, cooperative learning
Cooperative learning
Cooperative learning is an approach to organizing classroom activities into academic and social learning experiences. Students must work in groups to complete tasks collectively...
environments), and choice (i.e., making choices
Choice theory
This article is about choice theory in psychology and education. For choice theory in economics, see rational choice theory.The term choice theory is the work of William Glasser, MD, author of the book so named, and is the culmination of some 50 years of theory and practice in psychology and...
versus following directions). While these elements are important to consider when working with FAS and have some usefulness in treatment, they are not alone sufficient to promote better outcomes. Kohn's minority challenge to behavioral interventions does illustrate the importance of factors beyond learning theory when trying to promote improved outcomes for FAS, and supports a more multi-model approach that can be found in varying degrees within the advocacy model and neurobehavioral approach.
Developmental framework
Many books and handouts on FAS recommend a developmental approach, based on developmental psychologyDevelopmental psychology
Developmental psychology, also known as human development, is the scientific study of systematic psychological changes, emotional changes, and perception changes that occur in human beings over the course of their life span. Originally concerned with infants and children, the field has expanded to...
, even though most do not specify it as such and provide little theoretical background. Optimal human development generally occurs in identifiable stages (e.g., Jean Piaget
Jean Piaget
Jean Piaget was a French-speaking Swiss developmental psychologist and philosopher known for his epistemological studies with children. His theory of cognitive development and epistemological view are together called "genetic epistemology"....
's theory of cognitive development
Theory of cognitive development
Piaget's theory of cognitive development is a comprehensive theory about the nature and development of human intelligence first developed by Jean Piaget. It is primarily known as a developmental stage theory, but in fact, it deals with the nature of knowledge itself and how humans come gradually to...
, Erik Erikson
Erik Erikson
Erik Erikson was a Danish-German-American developmental psychologist and psychoanalyst known for his theory on social development of human beings. He may be most famous for coining the phrase identity crisis. His son, Kai T...
's stages of psychosocial development
Erikson's stages of psychosocial development
Erikson's stages of psychosocial development as articulated by Erik Erikson explain eight stages through which a healthily developing human should pass from infancy to late adulthood. In each stage the person confronts, and hopefully masters, new challenges. Each stage builds on the successful...
, John Bowlby
John Bowlby
Edward John Mostyn "John" Bowlby was a British psychologist, psychiatrist and psychoanalyst, notable for his interest in child development and for his pioneering work in attachment theory.- Family background :...
's attachment framework
Attachment theory
Attachment theory describes the dynamics of long-term relationships between humans. Its most important tenet is that an infant needs to develop a relationship with at least one primary caregiver for social and emotional development to occur normally. Attachment theory is an interdisciplinary study...
, and other developmental stage theories). FAS interferes with normal development, which may cause stages to be delayed, skipped, or immaturely developed. Over time, an unaffected child can negotiate the increasing demands of life by progressing through stages of development normally, but not so for a child with FAS.
By knowing what developmental stages and tasks children follow, treatment and interventions for FAS can be tailored to helping a patient meet developmental tasks and demands successfully. If a patient is delayed in the adaptive behavior
Adaptive behavior
Adaptive behavior is a type of behavior that is used to adjust to another type of behavior or situation. This is often characterized by a kind of behavior that allows an individual to change an unconstructive or disruptive behavior to something more constructive. These behaviors are most often...
domain, for instance, then interventions would be recommended to target specific delays through additional education and practice (e.g., practiced instruction on tying shoelaces), giving reminders, or making accommodations (e.g., using slip-on shoes) to support the desired functioning level. This approach is an advance over behavioral interventions, because it takes the patient's developmental context into account while developing interventions.
Advocacy model
The advocacyAdvocacy
Advocacy is a political process by an individual or a large group which normally aims to influence public-policy and resource allocation decisions within political, economic, and social systems and institutions; it may be motivated from moral, ethical or faith principles or simply to protect an...
model takes the point of view that someone is needed to actively mediate between the environment and the person with FAS. Advocacy activities are conducted by an advocate (for example, a family member, friend, or case manager) and fall into three basic categories. An advocate for FAS: (1) interprets FAS and the disabilities that arise from it and explains it to the environment in which the patient operates, (2) engenders change or accommodation on behalf of the patient, and (3) assists the patient in developing and reaching attainable goals.
The advocacy model is often recommended, for example, when developing an Individualized Education Program
Individualized Education Program
In the United States an Individualized Education Program, commonly referred to as an IEP, is mandated by the Individuals with Disabilities Education Act...
(IEP) for the patient's progress at school.
An understanding of the developmental framework would presumably inform and enhance the advocacy model, but advocacy also implies interventions at a systems level as well, such as educating schools, social workers, and so forth on best practices for FAS. However, several organizations devoted to FAS also use the advocacy model at a community practice
Community practice
Community Practice is a branch of social work in the United States that focuses on larger social systems and social change, and is tied to the historical roots of United States social work...
level as well.
Neurobehavioral approach
The neurobehavioral approach focuses on the neurologicalNeurology
Neurology is a medical specialty dealing with disorders of the nervous system. Specifically, it deals with the diagnosis and treatment of all categories of disease involving the central, peripheral, and autonomic nervous systems, including their coverings, blood vessels, and all effector tissue,...
underpinnings from which behavior
Behavior
Behavior or behaviour refers to the actions and mannerisms made by organisms, systems, or artificial entities in conjunction with its environment, which includes the other systems or organisms around as well as the physical environment...
s and cognitive processes
Cognition
In science, cognition refers to mental processes. These processes include attention, remembering, producing and understanding language, solving problems, and making decisions. Cognition is studied in various disciplines such as psychology, philosophy, linguistics, and computer science...
arise. It is an integrative perspective that acknowledges and encourages a multi-modal array of treatment interventions that draw from all FAS treatment approaches. The neurobehavioral approach is a serious attempt at shifting single-perspective treatment approaches into a new, coherent paradigm that addresses the complexities of problem behaviors and cognitions emanating from the CNS damage of FAS.
The neurobehavioral approach's main proponent is Diane Malbin, MSW, a recognized speaker and trainer in the FASD field, who first articulated the approach with respect to FASD and characterizes it as "Trying differently rather than trying harder." The idea to try differently refers to trying different perspectives and intervention options based on effects of the CNS damage and particular needs of the patient, rather than trying harder at implementing behavioral-based interventions that have consistently failed over time to produce improved outcomes for a patient. This approach also encourages more strength-based interventions, which allow a patient to develop positive outcomes by promoting success linked to the patient's strengths and interests.
Public health and policy
Treating FAS at the public healthPublic health
Public health is "the science and art of preventing disease, prolonging life and promoting health through the organized efforts and informed choices of society, organizations, public and private, communities and individuals" . It is concerned with threats to health based on population health...
and public policy
Public policy
Public policy as government action is generally the principled guide to action taken by the administrative or executive branches of the state with regard to a class of issues in a manner consistent with law and institutional customs. In general, the foundation is the pertinent national and...
levels promotes FAS prevention and diversion of public resources
Public services
Public services is a term usually used to mean services provided by government to its citizens, either directly or by financing private provision of services. The term is associated with a social consensus that certain services should be available to all, regardless of income...
to assist those with FAS. It is related to the advocacy model but promoted at a systems level (rather than with the individual or family), such as developing community education and supports, state or province level prevention efforts (e.g., screening for maternal alcohol use during OB/GYN or prenatal medical care visits), or national awareness programs. Several organizations and state agencies in the U.S. are dedicated to this type of intervention.
Primary disabilities
The primary disabilities of FAS are the functional difficulties with which the child is born as a result of CNS damage due to prenatal alcohol exposure. Often, primary disabilities are mistaken as behavior problems, but the underlying CNS damage is the originating source of a functional difficulty (rather than a mental health condition, which is considered a secondary disability).The exact mechanisms for functional problems of primary disabilities are not always fully understood, but animal studies
Animal testing
Animal testing, also known as animal experimentation, animal research, and in vivo testing, is the use of non-human animals in experiments. Worldwide it is estimated that the number of vertebrate animals—from zebrafish to non-human primates—ranges from the tens of millions to more than 100 million...
have begun to shed light on some correlates between functional problems and brain structures damaged by prenatal alcohol exposure. Representative examples include:
- Learning impairmentsLearning disabilityLearning disability is a classification including several disorders in which a person has difficulty learning in a typical manner, usually caused by an unknown factor or factors...
are associated with impaired dendriteDendriteDendrites are the branched projections of a neuron that act to conduct the electrochemical stimulation received from other neural cells to the cell body, or soma, of the neuron from which the dendrites project...
s of the hippocampusHippocampusThe hippocampus is a major component of the brains of humans and other vertebrates. It belongs to the limbic system and plays important roles in the consolidation of information from short-term memory to long-term memory and spatial navigation. Humans and other mammals have two hippocampi, one in... - Impaired motor developmentMotor skillA motor skill is a learned sequence of movements that combine to produce a smooth, efficient action in order to master a particular task. The development of motor skill occurs in the motor cortex, the region of the cerebral cortex that controls voluntary muscle groups.- Development of motor skills...
and functioning are associated with reduced size of the cerebellumCerebellumThe cerebellum is a region of the brain that plays an important role in motor control. It may also be involved in some cognitive functions such as attention and language, and in regulating fear and pleasure responses, but its movement-related functions are the most solidly established... - Hyperactivity is associated with decreased size of the corpus callosumCorpus callosumThe corpus callosum , also known as the colossal commissure, is a wide, flat bundle of neural fibers beneath the cortex in the eutherian brain at the longitudinal fissure. It connects the left and right cerebral hemispheres and facilitates interhemispheric communication...
Functional difficulties may result from CNS damage in more than one domain, but common functional difficulties by domain include: (This is not an exhaustive list of difficulties.)
- Achievement — Learning disabilitiesLearning disabilityLearning disability is a classification including several disorders in which a person has difficulty learning in a typical manner, usually caused by an unknown factor or factors...
- Adaptive behavior — Poor impulse controlDeferred gratificationDeferred gratification and delayed gratification denote a person’s ability to wait in order to obtain something that he or she wants. This intellectual attribute is also called impulse control, will power, self control, and “low” time preference, in economics...
, poor personal boundariesPersonal boundariesPersonal boundaries are guidelines, rules or limits that a person creates to identify for him- or herself what are reasonable, safe and permissible ways for other people to behave around him or her and how he or she will respond when someone steps outside those limits.'Personal boundaries define...
, poor anger managementAnger managementThe term anger management commonly refers to a system of psychological therapeutic techniques and exercises by which someone with excessive or uncontrollable anger & aggression can control or reduce the triggers, degrees, and effects of an angered emotional state...
, stubbornness, intrusive behavior, too friendly with strangers, poor daily living skills, developmental delays - Attention — Attention-Deficit/Hyperactivity Disorder (ADHD), poor attention or concentration, distractible
- Cognition — Mental retardationMental retardationMental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
, confusion under pressure, poor abstract skillsAbstractionAbstraction is a process by which higher concepts are derived from the usage and classification of literal concepts, first principles, or other methods....
, difficulty distinguishing between fantasy and reality, slower cognitive processing - Executive functioning — Poor judgmentDecision makingDecision making can be regarded as the mental processes resulting in the selection of a course of action among several alternative scenarios. Every decision making process produces a final choice. The output can be an action or an opinion of choice.- Overview :Human performance in decision terms...
, Information-processing disorder, poor at perceiving patterns, poor cause and effect reasoning, inconsistent at linking words to actions, poor generalizationGeneralizationA generalization of a concept is an extension of the concept to less-specific criteria. It is a foundational element of logic and human reasoning. Generalizations posit the existence of a domain or set of elements, as well as one or more common characteristics shared by those elements. As such, it...
ability - Language — ExpressiveExpressive language disorderExpressive language disorder is a communication disorder in which there are difficulties with verbal and written expression. It is a specific language impairment characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a...
or receptiveMixed receptive-expressive language disorderMixed receptive-expressive language disorder is a communication disorder in which both the receptive and expressive areas of communication may be affected in any degree, from mild to severe....
language disorders, grasp parts but not whole concepts, lack understanding of metaphor, idioms, or sarcasm - Memory — Poor short-term memoryShort-term memoryShort-term memory is the capacity for holding a small amount of information in mind in an active, readily available state for a short period of time. The duration of short-term memory is believed to be in the order of seconds. A commonly cited capacity is 7 ± 2 elements...
, inconsistent memory and knowledge base - Motor skills — Poor handwriting, poor fine motor skillFine motor skillFine motor skills are the coordination of small muscle movements which occur e.g., in the fingers, usually in coordination with the eyes. In application to motor skills of hands the term dexterity is commonly used....
s, poor gross motor skillGross motor skillGross motor skills are the abilities usually acquired during infancy and early childhood as part of a child's motor development. By the time they reach two years of age, almost all children are able to stand up, walk and run, walk up stairs, etc...
s, delayed motor skill development (e.g., riding a bicycle at appropriate age) - Sensory integrationSensory integrationSensory integration is defined as the neurological process that organizes sensation from one’s own body and the environment, thus making it possible to use the body effectively within the environment. Specifically, it deals with how the brain processes multiple sensory modality inputs into usable...
and soft neurological problems — sensory integration dysfunctionSensory Integration DysfunctionSensory integration dysfunction is a neurological disorder characterized by a neurological sensory integration deficit. The more current diagnostic nosology uses the term sensory processing disorder to describe this condition....
, sensory defensivenessSensory defensivenessSensory defensiveness is a condition defined as having "a tendency to react negatively or with alarm to sensory input which is generally considered harmless or non-irritating" to neurotypical persons....
, undersensitivity to stimulation - Social communication — Intrude into conversations, inability to read nonverbalNonverbal communicationNonverbal communication is usually understood as the process of communication through sending and receiving wordless messages. Messages can be communicated through gestures and touch , by body language or posture, by facial expression and eye contact...
or socialSocial learning (social pedagogy)Social learning is learning that takes place at a wider scale than individual or group learning, up to a societal scale, through social interaction between peers. It may or may not lead to a change in attitudes and behaviour...
cues, "chatty" but without substance
Secondary disabilities
The secondary disabilities of FAS are those that arise later in life secondary to CNS damage. These disabilities often emerge over time due to a mismatch between the primary disabilities and environmental expectations; secondary disabilities can be ameliorated with early interventions and appropriate supportive services.Six main secondary disabilities were identified in a University of Washington research study of 473 subjects diagnosed with FAS, PFAS (partial fetal alcohol syndrome), and ARND (alcohol-related neurodevelopmental disorder):
- Mental health problems — Diagnosed with ADHD, Clinical DepressionClinical depressionMajor depressive disorder is a mental disorder characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities...
, or other mental illnessMental illnessA mental disorder or mental illness is a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which is not a part of normal development or culture. Such a disorder may consist of a combination of affective, behavioural,...
, experienced by over 90% of the subjects - Disrupted school experience — Suspended or expelled from school or dropped out of school, experienced by 60% of the subjects (age 12 and older)
- Trouble with the law — Charged or convicted with a crime, experienced by 60% of the subjects (age 12 and older)
- Confinement — For inpatient psychiatric care, inpatient chemical dependency care, or incarcerated for a crime, experienced by about 50% of the subjects (age 12 and older)
- Inappropriate sexual behavior — Sexual advances, sexual touching, or promiscuity, experienced by about 50% of the subjects (age 12 and older)
- Alcohol and drug problems — Abuse or dependency, experienced by 35% of the subjects (age 12 and older)
Two additional secondary disabilities exist for adult patients:
- Dependent living — Group home, living with family or friends, or some sort of assisted living, experienced by 80% of the subjects (age 21 and older)
- Problems with employment — Required ongoing job training or coaching, could not keep a job, unemployed, experienced by 80% of the subjects (age 21 and older)
Protective factors and strengths
Eight factors were identified in the same study as universal protective factors that reduced the incidence rate of the secondary disabilities:- Living in a stable and nurturant home for over 72% of life
- Being diagnosed with FAS before age six
- Never having experienced violence
- Remaining in each living situation for at least 2.8 years
- Experiencing a "good quality home" (meeting 10 or more defined qualities) from age 8 to 12 years old
- Having been found eligible for developmental disability (DD) services
- Having basic needs met for at least 13% of life
- Having a diagnosis of FAS (rather than another FASD condition)
Malbin (2002) has identified the following areas of interests and talents as strengths that often stand out for those with FASD and should be utilized, like any strength, in treatment planning:
- Music, playing instruments, composing, singing, art, spelling, reading, computers, mechanics, woodworking, skilled vocations (welding, electrician, etc.), writing, poetry
Historical references
Anecdotal accounts of prohibitions against maternal alcohol use from biblicalBible
The Bible refers to any one of the collections of the primary religious texts of Judaism and Christianity. There is no common version of the Bible, as the individual books , their contents and their order vary among denominations...
, ancient Greek
Ancient Greece
Ancient Greece is a civilization belonging to a period of Greek history that lasted from the Archaic period of the 8th to 6th centuries BC to the end of antiquity. Immediately following this period was the beginning of the Early Middle Ages and the Byzantine era. Included in Ancient Greece is the...
, and ancient Roman
Ancient Rome
Ancient Rome was a thriving civilization that grew on the Italian Peninsula as early as the 8th century BC. Located along the Mediterranean Sea and centered on the city of Rome, it expanded to one of the largest empires in the ancient world....
sources imply a historical awareness of links between maternal alcohol use and negative child outcomes.
In Gaelic Scotland
Scotland
Scotland is a country that is part of the United Kingdom. Occupying the northern third of the island of Great Britain, it shares a border with England to the south and is bounded by the North Sea to the east, the Atlantic Ocean to the north and west, and the North Channel and Irish Sea to the...
, the mother and nurse were not allowed to consume ale
Ale
Ale is a type of beer brewed from malted barley using a warm fermentation with a strain of brewers' yeast. The yeast will ferment the beer quickly, giving it a sweet, full bodied and fruity taste...
during pregnancy and breastfeeding (Martin Martin
Martin Martin
Martin Martin was a Scottish writer best known for his work A Description of the Western Isles of Scotland . This book is particularly noted for its information on the St Kilda archipelago...
).
The earliest recorded observation of possible links between maternal alcohol use and fetal damage was made in 1899 by Dr. William Sullivan, a Liverpool
Liverpool
Liverpool is a city and metropolitan borough of Merseyside, England, along the eastern side of the Mersey Estuary. It was founded as a borough in 1207 and was granted city status in 1880...
prison physician who noted higher rates of stillbirth
Stillbirth
A stillbirth occurs when a fetus has died in the uterus. The Australian definition specifies that fetal death is termed a stillbirth after 20 weeks gestation or the fetus weighs more than . Once the fetus has died the mother still has contractions and remains undelivered. The term is often used in...
for 120 alcoholic female prisoners than their sober female relatives; he suggested the causal agent to be alcohol use. This contradicted the predominating belief at the time that heredity caused mental retardation, poverty, and criminal behavior, which contemporary studies on the subjects usually concluded. A case study by Henry H. Goddard
Henry H. Goddard
Henry Herbert Goddard was a prominent American psychologist and eugenicist in the early 20th century...
of the Kallikak family — popular in the early 1900s — represents this earlier perspective, though later researchers have suggested that the Kallikaks almost certainly had FAS. General studies and discussions on alcoholism throughout the mid-1900s were typically based on a heredity argument.
Prior to fetal alcohol syndrome being specifically identified and named in 1973, a few studies had noted differences between the children of mothers who used alcohol during pregnancy
Pregnancy
Pregnancy refers to the fertilization and development of one or more offspring, known as a fetus or embryo, in a woman's uterus. In a pregnancy, there can be multiple gestations, as in the case of twins or triplets...
or breast-feeding and those who did not, but identified alcohol use as a possible contributing factor rather than heredity.
Recognition as a syndrome
Fetal Alcohol Syndrome was named in 1973 by two dysmorphologists, Drs. Kenneth Lyons Jones and David Weyhe SmithDavid Weyhe Smith
David Weyhe Smith was an American pediatrician and dysmorphologist.Smith was born in Oakland, California. He gained his medical degree from Johns Hopkins University School of Medicine and worked with Lawson Wilkins in the field of pediatric endocrinology...
of the University of Washington
University of Washington
University of Washington is a public research university, founded in 1861 in Seattle, Washington, United States. The UW is the largest university in the Northwest and the oldest public university on the West Coast. The university has three campuses, with its largest campus in the University...
Medical School in Seattle, United States
United States
The United States of America is a federal constitutional republic comprising fifty states and a federal district...
. They identified a pattern of "craniofacial, limb, and cardiovascular defects associated with prenatal onset growth deficiency and developmental delay" in eight unrelated children of three ethnic groups, all born to mothers who were alcoholics. The pattern of malformations indicated that the damage was prenatal. News of the discovery shocked some, while others were skeptical of the findings.
Dr. Paul Lemoine of Nantes
Nantes
Nantes is a city in western France, located on the Loire River, from the Atlantic coast. The city is the 6th largest in France, while its metropolitan area ranks 8th with over 800,000 inhabitants....
, France had already published a study in a French medical journal in 1968 about children with distinctive features whose mothers were alcoholics, and in the U.S., Christy Ulleland and colleagues at the University of Washington Medical School had conducted an 18-month study in 1968–1969 documenting the risk of maternal alcohol consumption among the offspring of 11 alcoholic mothers. The Washington and Nantes findings were confirmed by a research group in Gothenburg
Gothenburg
Gothenburg is the second-largest city in Sweden and the fifth-largest in the Nordic countries. Situated on the west coast of Sweden, the city proper has a population of 519,399, with 549,839 in the urban area and total of 937,015 inhabitants in the metropolitan area...
, Sweden
Sweden
Sweden , officially the Kingdom of Sweden , is a Nordic country on the Scandinavian Peninsula in Northern Europe. Sweden borders with Norway and Finland and is connected to Denmark by a bridge-tunnel across the Öresund....
in 1979. Researchers in France, Sweden, and the United States
United States
The United States of America is a federal constitutional republic comprising fifty states and a federal district...
were struck by how similar these children looked, though they were not related, and how they behaved in the same unfocused and hyperactive manner.
Within nine years of the Washington discovery, animal studies, including non-human monkey
Monkey
A monkey is a primate, either an Old World monkey or a New World monkey. There are about 260 known living species of monkey. Many are arboreal, although there are species that live primarily on the ground, such as baboons. Monkeys are generally considered to be intelligent. Unlike apes, monkeys...
studies carried out at the University of Washington Primate Center by Dr. Sterling Clarren
Sterling Clarren
Sterling K. Clarren is one of the world's leading researchers into Fetal Alcohol Spectrum Disorder , an umbrella term encompassing fetal alcohol syndrome and fetal alcohol effects . He is the Robert A...
, had confirmed that alcohol was a teratogen. By 1978, 245 cases of FAS had been reported by medical researchers, and the syndrome began to be described as the most frequent known cause of mental retardation
Mental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
.
While many syndrome
Syndrome
In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs , symptoms , phenomena or characteristics that often occur together, so that the presence of one or more features alerts the physician to the possible presence of the others...
s are eponym
Eponym
An eponym is the name of a person or thing, whether real or fictitious, after which a particular place, tribe, era, discovery, or other item is named or thought to be named...
ous, i.e. named after the physician first reporting the association of symptoms, Dr. Smith named FAS after the causal agent of the symptoms. He reasoned that doing so would encourage prevention, believing that if people knew maternal alcohol consumption caused the syndrome, then abstinence during pregnancy would follow from patient education
Health education
Health education is the profession of educating people about health. Areas within this profession encompass environmental health, physical health, social health, emotional health, intellectual health, and spiritual health...
and public awareness. Nobody was aware of the full range of possible birth defects from FAS or its prevalence rate at that time, but admission of alcohol use during pregnancy can feel stigmatizing to birth mothers and complicate diagnostic efforts of a syndrome with its preventable cause in the name.
Over time, as subsequent research and clinical experience suggested that a range of effects (including physical, behavioral, and cognitive) could arise from prenatal alcohol exposure, the term Fetal Alcohol Spectrum Disorder
Fetal alcohol spectrum disorder
Fetal Alcohol Spectrum Disorders describes a continuum of permanent birth defects caused by maternal consumption of alcohol during pregnancy, which includes, but is not limited to fetal alcohol syndrome...
(FASD) was developed to include FAS as well as other conditions resulting from prenatal alcohol exposure. Currently, FAS is the only expression of prenatal alcohol exposure defined by the International Statistical Classification of Diseases and Related Health Problems
ICD
The International Statistical Classification of Diseases and Related Health Problems is a medical classification that provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or disease...
and assigned ICD-9 and diagnoses.
See also
- Fetal Alcohol Spectrum DisorderFetal alcohol spectrum disorderFetal Alcohol Spectrum Disorders describes a continuum of permanent birth defects caused by maternal consumption of alcohol during pregnancy, which includes, but is not limited to fetal alcohol syndrome...
- Prenatal cocaine exposurePrenatal cocaine exposurePrenatal cocaine exposure occurs when a pregnant woman uses cocaine and thereby exposes her fetus to the drug. Crack baby was a term coined to describe children who were exposed to crack as fetuses; the concept of the crack baby emerged in the US during the 1980s and 90s in the midst of a great...
- Recommended maximum intake of alcoholic beverages
- Unintended pregnancyUnintended pregnancyUnintended pregnancies are those in which conception was not intended by the female sexual partner. Worldwide, 38% of pregnancies were unintended in 1999 . Unintended pregnancies are the primary cause of induced abortion, resulting in about 42 million induced abortions per year...
External links
- Information on FASD in the UK
- Whitecrow Village FASD Society
- Congressional Caucus on Fetal Alcohol Spectrum Disorders
- Fetal Alcohol Syndrome Diagnostic & Prevention Network (FAS DPN)
- CDC’s National Center on Birth Defects and Developmental Disabilities
- Foetal Alcohol Syndrome Aware UK
- Iceberg—a quarterly international educational newsletter on FASD
- Fetal Alcohol Syndrome prevention campaign in South Africa
- Minnesota Organization on Fetal Alcohol Syndrome
- http://www.motherisk.org/women/updatesDetail.jsp?content_id=347Canadian FASD resource — MotheriskMotheriskMotherisk, created in 1985, is a clinical research and teaching program at The Hospital for Sick Children in Toronto, Ontario, Canada that provides information and guidance to pregnant or lactating women and to health care professionals regarding risks to the fetus from exposure to drugs,...
] - Fetal Alcohol Syndrome - PrimeHealthChannel