Diagnosis of Asperger syndrome
Encyclopedia
Several factors complicate the diagnosis of Asperger syndrome (AS), an autism spectrum disorder (ASD). Like other ASD forms, Asperger syndrome
Asperger syndrome
Asperger's syndrome that is characterized by significant difficulties in social interaction, alongside restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development...

 is characterized by impairment in social interaction accompanied by restricted and repetitive interests and behavior; it differs from the other ASDs by having no general delay in language
Language delay
Language delay is a failure to develop language abilities on the usual developmental timetable. Language delay is distinct from speech delay, in which the speech mechanism itself is the focus of delay...

 or cognitive development
Cognitive development
Cognitive development is a field of study in neuroscience and psychology focusing on a child's development in terms of information processing, conceptual resources, perceptual skill, language learning, and other aspects of brain development and cognitive psychology compared to an adult's point of...

. Problems in diagnosis include disagreement among diagnostic criteria, controversy over the distinction between AS and other ASD forms or even whether AS exists as a separate syndrome, and over- and under-diagnosis for non-technical reasons. As with other ASD forms, early diagnosis is important, and differential diagnosis must consider several other conditions.

Criteria

Asperger syndrome
Asperger syndrome
Asperger's syndrome that is characterized by significant difficulties in social interaction, alongside restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development...

 is defined in the Diagnostic and Statistical Manual of Mental Disorders
Diagnostic and Statistical Manual of Mental Disorders
The Diagnostic and Statistical Manual of Mental Disorders is published by the American Psychiatric Association and provides a common language and standard criteria for the classification of mental disorders...

(DSM-IV-TR) as a pervasive developmental disorder
Pervasive developmental disorder
Pervasive developmental disorders is a diagnostic category refers to a group of disorders characterized by delays or impairments in communication, social behaviors, and cognitive development.Pervasive developmental disorders include Autism, Asperger's syndrome, Rett's syndrome, Childhood...

 that is distinguished by a pattern of symptoms rather than a single symptom. It is characterized by impairment in social interaction, by stereotyped and restricted patterns of behavior, activities and interests, and by no clinically significant delay in cognitive development or general delay in language. Impairments must be significant, and must affect important areas of function, and the diagnosis is excluded if criteria are also met for autism. Intense preoccupation with a narrow subject, one-sided verbosity
Verbosity
Verbosity in language refers to speech or writing which is deemed to use an excess of words. Adjectival forms are verbose, wordy, prolix and garrulous.-History:...

, restricted prosody
Prosody (linguistics)
In linguistics, prosody is the rhythm, stress, and intonation of speech. Prosody may reflect various features of the speaker or the utterance: the emotional state of the speaker; the form of the utterance ; the presence of irony or sarcasm; emphasis, contrast, and focus; or other elements of...

, and physical clumsiness are typical of the condition, but are not required for diagnosis.

The World Health Organization
World Health Organization
The World Health Organization is a specialized agency of the United Nations that acts as a coordinating authority on international public health. Established on 7 April 1948, with headquarters in Geneva, Switzerland, the agency inherited the mandate and resources of its predecessor, the Health...

 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...

 criteria are almost identical to DSM-IV: ICD-10 adds the statement that motor clumsiness is usual (although not necessarily a diagnostic feature); ICD-10 adds the statement that isolated special skills, often related to abnormal preoccupations, are common but are not required for diagnosis; and the DSM-IV requirement for clinically significant impairment in social, occupational, or other important areas of functioning is not included in ICD-10.

Reliability

The diagnoses of AS or high-functioning autism
High-functioning autism
High-functioning autism is an informal term applied to autistic people who are deemed to be "higher functioning" than other autistic people, by one or more metrics. There is no consensus as to the definition. HFA is not yet a recognised diagnosis in the DSM-IV-TR or the ICD-10.The amount of...

 (HFA) are sometimes used interchangeably; the same child can receive different diagnoses depending on the screening tool and the individual administering the test. Diagnoses may be influenced by non-technical issues, such as availability of government benefits for one condition but not the other. Advocacy and parent support organizations have proliferated around the concept of AS, and there are indications that this has resulted in more frequent diagnoses of AS, which may be given as a "residual diagnosis" to children of normal intelligence who do not meet diagnostic criteria for autism but have some social difficulties.
Underdiagnosis and overdiagnosis are problems in marginal cases; the increasing popularity of drug treatment options and the expansion of benefits has given providers incentives to diagnose ASD, resulting in some overdiagnosis of children with uncertain symptoms. Conversely, the cost of screening and diagnosis and the challenge of obtaining payment can inhibit or delay diagnosis.

Procedure

Developmental screening during a routine check-up by a general practitioner or pediatrician may identify signs that warrant further investigation. This will require a comprehensive team evaluation to either confirm or exclude a diagnosis of AS. This team usually includes a psychologist, neurologist, psychiatrist, speech and language pathologist, occupational therapist and other professionals with expertise in diagnosing children with AS. Observation occurs across multiple settings; the social disability in AS may be more evident during periods when social expectations are unclear and children are free of adult direction. A comprehensive evaluation includes neurological and genetic assessment, with in-depth cognitive and language testing to establish IQ and evaluate psychomotor function, verbal and nonverbal strengths and weaknesses, style of learning, and skills for independent living. An assessment of communication strengths and weaknesses includes the evaluation of nonverbal forms of communication (gaze and gestures); the use of non-literal language (metaphor, irony, absurdities and humor); patterns of speech inflection, stress and volume; pragmatics (turn-taking and sensitivity to verbal cues); and the content, clarity and coherence of conversation. Testing may include an audiological referral to exclude hearing impairment. The determination of whether there is a family history of autism spectrum conditions is important. A medical practitioner will diagnose on the basis of the test results and the child’s developmental history and current symptoms. Because multiple domains of functioning are involved, a multidisciplinary team approach is critical; an accurate assessment of the individual's strengths and weaknesses is more useful than a diagnostic label. Delayed or mistaken diagnosis is a serious problem that can be traumatic for individuals and families; diagnosis based solely on a neurological, speech and language, or educational attainment may yield only a partial diagnosis.

Advances in genetic technology allow clinical geneticists to link an estimated 40% of ASD cases to genetic causes; in one study the diagnostic yield for AS, PDD-NOS and atypical autism was similar to that for classic autism. Genetic diagnosis is relatively expensive, and genetic screening is generally impractical. As genetic tests are developed several ethical, legal, and social issues will emerge. Commercial availability of tests may precede adequate understanding of how to use test results, given the complexity of the genetics.

Early diagnosis

Parents of children with AS can typically trace differences in their children's development to as early as 30 months of age, although diagnosis is not made on average until the age of 11. By definition, children with AS develop language and self-help skills on schedule, so early signs may not be apparent and the condition may not be diagnosed until later childhood. Impairment in social interaction is sometimes not in evidence until a child attains an age at which these behaviors become important; social disabilities are often first noticed when children encounter peers in daycare or preschool. Diagnosis is most commonly made between the ages of four and eleven, and one study suggests that diagnosis cannot be rendered reliably before age four.

Differential diagnosis

Asperger syndrome can be misdiagnosed as a number of other conditions, leading to medications that are unnecessary or even worsen behavior; the condition may be at the root of treatment-resistant mental illness in adults. Diagnostic confusion burdens individuals and families and may cause them to seek unhelpful therapies. Conditions that must be considered in a differential diagnosis
Differential diagnosis
A differential diagnosis is a systematic diagnostic method used to identify the presence of an entity where multiple alternatives are possible , and may also refer to any of the included candidate alternatives A differential diagnosis (sometimes abbreviated DDx, ddx, DD, D/Dx, or ΔΔ) is a...

 include other pervasive developmental disorders (autism, PDD-NOS, childhood disintegrative disorder, Rett disorder), schizophrenia spectrum disorders (schizophrenia
Schizophrenia
Schizophrenia is a mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests itself as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social...

, schizotypal disorder, schizoid personality disorder), attention-deficit hyperactivity disorder
Attention-deficit hyperactivity disorder
Attention deficit hyperactivity disorder is a developmental disorder. It is primarily characterized by "the co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone" and symptoms starting before seven years of age.ADHD is the most commonly studied and...

, obsessive compulsive disorder, depression
Clinical depression
Major 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...

, semantic pragmatic disorder
Semantic Pragmatic Disorder
Pragmatic language impairment is an impairment in understanding pragmatic areas of language. This type of impairment was previously called semantic-pragmatic disorder . Pragmatic language impairments are related to autism and Asperger syndrome, but also could be related to other non autistic...

, multiple complex developmental disorder
Multiple-complex Developmental Disorder
Multiple complex developmental disorder is a research category, proposed to involve several neurological and psychological symptoms where at least some symptoms are first noticed during early childhood and persist throughout life...

 and nonverbal learning disorder
Nonverbal learning disorder
A nonverbal learning disorder or nonverbal learning disability is a condition characterized by a significant discrepancy between higher verbal and lower motor, visuo-spatial, and social skills on an IQ test...

 (NLD).

Differentiating between AS and other ASDs relies on the judgment of experienced clinicians. There is much overlap between AS and NLD: both have symptoms of precocious reading, verbosity, and clumsiness, but they differ in that children with AS have restricted interests, repetitive behaviors, and less-typical social interactions. Tourette syndrome
Tourette syndrome
Tourette syndrome is an inherited neuropsychiatric disorder with onset in childhood, characterized by multiple physical tics and at least one vocal tic; these tics characteristically wax and wane...

 (TS) should also be considered in differential diagnosis: "It is in nonretarded, rigid individuals on the autistic spectrum, especially those with so-called Asperger syndrome, that differences with less severely affected individuals with TS and OCD may become blurred, or that both disorders may coexist."
Other problems to be considered in the differential diagnosis include selective mutism
Selective mutism
Selective mutism is an anxiety disorder in which a person, most often a child, who is normally capable of speech is unable to speak in given situations, or to specific people...

, stereotypic movement disorder
Stereotypic movement disorder
Stereotypic movement disorder is a disorder of childhood involving repetitive, nonfunctional motor behavior , that markedly interferes with normal activities or results in bodily injury, and persists for four weeks or longer. The behavior must not be due to the direct effects of a substance or...

 and bipolar disorder
Bipolar disorder
Bipolar disorder or bipolar affective disorder, historically known as manic–depressive disorder, is a psychiatric diagnosis that describes a category of mood disorders defined by the presence of one or more episodes of abnormally elevated energy levels, cognition, and mood with or without one or...

 as well as 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...

 or birth
Childbirth
Childbirth is the culmination of a human pregnancy or gestation period with the birth of one or more newborn infants from a woman's uterus...

 trauma
Physical trauma
Trauma refers to "a body wound or shock produced by sudden physical injury, as from violence or accident." It can also be described as "a physical wound or injury, such as a fracture or blow." Major trauma can result in secondary complications such as circulatory shock, respiratory failure and death...

, 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...

, Cornelia De Lange syndrome
Cornelia de Lange Syndrome
Cornelia 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...

, fetal alcohol syndrome
Fetal alcohol syndrome
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...

, fragile X syndrome
Fragile X syndrome
Fragile X syndrome , Martin–Bell syndrome, or Escalante's syndrome , is a genetic syndrome that is the most commonly known single-gene cause of autism and the most common inherited cause of intellectual disability...

, dyslexia
Dyslexia
Dyslexia is a very broad term defining a learning disability that impairs a person's fluency or comprehension accuracy in being able to read, and which can manifest itself as a difficulty with phonological awareness, phonological decoding, orthographic coding, auditory short-term memory, or rapid...

, Fahr syndrome
Fahr's syndrome
Idiopathic Basal Ganglia Calcification, also known as Fahr disease or Fahr’s Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex...

, hyperlexia
Hyperlexia
Hyperlexia was initially identified by Silberg and Silberg , who defined it as the precocious ability to read words without prior training in learning to read typically before the age of 5. They indicated that children with hyperlexia have a significantly higher word decoding ability than their...

, leukodystrophy
Leukodystrophy
Leukodystrophy refers to a group of disorders characterized by dysfunction of the white matter of the brain. The leukodystrophies are caused by imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers...

, multiple sclerosis
Multiple sclerosis
Multiple sclerosis is an inflammatory disease in which the fatty myelin sheaths around the axons of the brain and spinal cord are damaged, leading to demyelination and scarring as well as a broad spectrum of signs and symptoms...

 and Triple X syndrome
Triple X syndrome
Triple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. The condition always produces females, with an XX pair of chromosomes, as well as an additional chromosome, resulting in the formation of XXX. A mosaic form...

.

Multiple sets of diagnostic criteria

The diagnosis of AS is complicated by the use of several different screening instruments. In addition to the DSM-IV and the ICD-10 criteria, other sets of diagnostic criteria for AS are the Szatmari et al.
Peter Szatmari
Peter Szatmari is a Canadian researcher of Autism and Asperger syndrome.Szatmari is a Professor and Vice-Chair, Research, Department of Psychiatry and Behavioural Neurosciences, at McMaster University. He is also the Director of the research training program in the department, and a member of the...

 criteria and the Gillberg and Gillberg criteria.
Partial Diagnostic Criteria for Asperger Syndrome
Adapted from Mattila et al.
Blank = not defined by the criteria
Substantial differences between criteria listed:
all sub-sections of criteria not included
DSM-IV ICD-10 Gillberg Szatmari
Language delay No No Maybe
Cognitive development delay No No
Self-help skill delay No No
Social interaction impairment Yes Yes Yes Yes
– Impaired nonverbal communication Maybe Maybe Yes Yes
– Inadequate friendships Maybe Maybe Maybe Yes
Repetitive, stereotyped behavior Yes Yes Yes
– All-absorbing interest Maybe Maybe Yes
– Routines or rituals Maybe Maybe Yes
Odd speech Yes Yes
Motor clumsiness Maybe Yes
Isolated special skills Common
Clinically significant impairmenta Yes
Exclusion of other disorder Yesb Yesc No Yesd
language delay
Language delay
Language delay is a failure to develop language abilities on the usual developmental timetable. Language delay is distinct from speech delay, in which the speech mechanism itself is the focus of delay...

 is allowed in the Gillberg and Gillberg criteria. Szatmari et al. emphasize solitariness, and both Gillberg and Szatmari include "odd speech" and "language" in their criteria. Although Szatmari does not mention stereotyped behaviors, one of four described stereotyped functions is required by DSM-IV and ICD-10, and two are required by Gillberg and Gillberg. Abnormal responses to sensory stimuli
Sensory integration
Sensory 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...

 are not mentioned in any diagnostic scheme, although they have been associated with AS. Because DSM-IV and ICD-10 exclude speech and language difficulties, these definitions exclude some of the original cases described by Hans Asperger. According to one researcher, the majority of individuals with AS do have speech and language abnormalities, and the recent DSM–IV says that "the occurrence of 'no clinically significant delays in language does not imply that individuals with Asperger Disorder have no problems with communication' (American Psychiatric Association, 2000, p. 80)". The Gillberg and Gillberg criteria are considered closest to Asperger's original description of the syndrome; the aggression and abnormal prosody
Prosody (linguistics)
In linguistics, prosody is the rhythm, stress, and intonation of speech. Prosody may reflect various features of the speaker or the utterance: the emotional state of the speaker; the form of the utterance ; the presence of irony or sarcasm; emphasis, contrast, and focus; or other elements of...

 that other authors say defined Asperger's patients are not mentioned in any criteria.

The DSM-IV and ICD-10 diagnostic criteria have been criticized for being too broad and inadequate for assessing adults, overly narrow (particularly in relation to Hans Asperger's original description of individuals with AS), and vague; results of a large study in 2007 comparing the four sets of criteria point to a "huge need to reconsider the diagnostic criteria of AS". The study found complete overlap across all sets of diagnostic criteria in the impairment of social interaction with the exception of four cases not diagnosed by the Szatmari et al. criteria because of its emphasis on social solitariness. Lack of overlap was strongest in the language delay and odd speech requirements of the Gillberg and the Szatmari requirements relative to DSM-IV and ICD-10, and in the differing requirements regarding general delays. A small 2008 study of children referred with a tentative diagnosis of AS found poor agreement among the four sets of criteria, with one overlap being only 39%. In 2007 Szatmari et al. suggested a new classification system of ASD based on familial traits found by genetic epidemiology
Genetic epidemiology
Genetic epidemiology is the study of the role of genetic factors in determining health and disease in families and in populations, and the interplay of such genetic factors with environmental factors...

.

Differences from high-functioning autism

The distinction between Asperger's and other ASD forms is to some extent an artifact of how autism was discovered. Although individuals with Asperger's tend to perform better cognitively than those with autism, the extent of the overlap between Asperger's and high-functioning autism
High-functioning autism
High-functioning autism is an informal term applied to autistic people who are deemed to be "higher functioning" than other autistic people, by one or more metrics. There is no consensus as to the definition. HFA is not yet a recognised diagnosis in the DSM-IV-TR or the ICD-10.The amount of...

 is unclear.
Overall, relatively few differences are reported between Asperger's and autism on parameters related to causation. A standard assumption is that Asperger's and autism have a common cause, and are variable expressions of the same underlying disorder. A 2008 review of classification studies found that results largely did not support differences between the diagnoses, and that the most salient group characteristics came from IQ characterizations. The current ASD classification may not reflect the true nature of the conditions. A panel session at a 2008 diagnosis-related autism research planning conference noted problems with the classification of AS as a distinct subgroup of ASD, and two of three breakout groups recommended eliminating AS as a separate diagnosis.

A neuropsychological
Neuropsychology
Neuropsychology studies the structure and function of the brain related to specific psychological processes and behaviors. The term neuropsychology has been applied to lesion studies in humans and animals. It has also been applied to efforts to record electrical activity from individual cells in...

 profile has been proposed for AS; if verified, it could differentiate between AS and HFA and aid in differential diagnosis
Differential diagnosis
A differential diagnosis is a systematic diagnostic method used to identify the presence of an entity where multiple alternatives are possible , and may also refer to any of the included candidate alternatives A differential diagnosis (sometimes abbreviated DDx, ddx, DD, D/Dx, or ΔΔ) is a...

. Relative to HFA, people with AS have deficits in nonverbal skills such as visual-spatial problem solving and visual-motor coordination, along with stronger verbal abilities. Several studies have found AS with a neuropsychologic profile of assets and deficits consistent with a nonverbal learning disability, but several other studies have failed to replicate this. The literature review did not reveal consistent findings of "nonverbal weaknesses or increased spatial or motor problems relative to individuals with HFA", leading some researchers to argue that increased cognitive ability is evidenced in AS relative to HFA regardless of differences in verbal and nonverbal ability.

Proposed changes to DSM-5

One of the proposed changes to DSM-5
DSM-5
The next edition of the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders , commonly called DSM-5 , is currently in consultation, planning and preparation...

is to do away with Asperger syndrome as a separate diagnosis and fold it under autism spectrum disorders, with severity measures within the broader diagnosis.

Further reading


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