Today’s Topic: Asperger syndrome
On Mental Health Friday, we post, in alphabetical order, one per week, information on mental health disorders. Mental Health Friday is for informational purposes only, and is in no way meant to diagnose, treat or cure any disease. Please do not self diagnose and seek professional help for what ails you.
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Asperger syndrome (AS), also known as Asperger’s, is a neurodevelopmental disorder characterized by significant difficulties in social interaction and nonverbal communication, along with restricted and repetitive patterns of behavior and interests.[7] It is an autism spectrum disorder (ASD),[12] but differs from other ASDs by relatively unimpaired language and intelligence.[13] Although not required for diagnosis, physical clumsiness and unusual use of language are common.[14][15]Signs usually begin before two years of age and in many cases never resolve.[7]
The exact cause of Asperger’s is poorly understood.[7] While it is largely inherited, the underlying genetics have not been determined conclusively.[14][16] Environmental factors are also believed to play a role.[7] Brain imaging has not identified a common underlying condition.[14] In 1994, the diagnosis of Asperger’s was included in the fourth edition (DSM-IV) of the Diagnostic and Statistical Manual of Mental Disorders; with the publication of DSM-5 in 2013 the diagnosis was removed, the symptoms now included within the autism spectrum disorder along with autism and pervasive developmental disorder not otherwise specified (PDD-NOS).[7][17] It remains within the International Classification of Diseases (ICD-11) as of 2021as a subtype of autism spectrum disorder.[18][19]
There is no single treatment, and the effectiveness of particular interventions is supported by only limited data.[14] Treatment is aimed at lowering obsessive or repetitive routines and improving communication skills and physical clumsiness.[10]Interventions may include social skills training, cognitive behavioral therapy, physical therapy, speech therapy, parent training, and medications for associated problems, such as mood or anxiety.[10] Most children improve as they grow up, but social and communication difficulties usually persist.[20] Some researchers and people on the autism spectrum have advocated a shift in attitudes toward the view that autism spectrum disorder is a difference rather than a disease that must be treated or cured.[21][22]
In 2015, Asperger’s was estimated to affect 37.2 million people globally (about 0.5% of people).[11] Autism spectrum disorder is diagnosed in males more often than females, and females are typically diagnosed at a later age.[23][24] The syndrome is named after the Austrian pediatrician Hans Asperger, who, in 1944, described children in his care who struggled to form friendships, did not understand others’ gestures or feelings, engaged in one-sided conversations about their favorite interests, and were clumsy.[25] The modern conception of Asperger syndrome came into existence in 1981 and went through a period of popularization.[26][27][28] It became a standardized diagnosis in the early 1990s.[29] Many questions and controversies about the condition remain.[20] There is doubt about whether it is distinct from high-functioning autism(HFA).[30] Partly because of this, the percentage of people affected is not firmly established.[14]
Classification
The extent of the overlap between Asperger syndrome and high-functioning autism (HFA – autism unaccompanied by intellectual disability) is unclear.[30][31][32] The ASD classification is to some extent an artifact of how autism was discovered,[33] and may not reflect the true nature of the spectrum;[34] methodological problems have beset Asperger syndrome as a valid diagnosis from the outset.[35][36] In the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), published in May 2013,[37] Asperger syndrome, as a separate diagnosis, was eliminated and folded into autism spectrum disorder.[38] Like the diagnosis of Asperger syndrome,[39] the change was controversial[39][40]and thus Asperger syndrome was subsequently not removed from the WHO’s ICD-10 or ICD-11.[18][41]
The World Health Organization (WHO) defined Asperger syndrome (AS) as one of the autism spectrum disorders (ASD) or pervasive developmental disorders (PDD), which are a spectrum of psychological conditions that are characterized by abnormalities of social interaction and communication that pervade the individual’s functioning, and by restricted and repetitive interests and behavior. Like other psychological development disorders, ASD begins in infancy or childhood, has a steady course without remission or relapse, and has impairments that result from maturation-related changes in various systems of the brain.[42] ASD, in turn, is a subset of the broader autism phenotype, which describes individuals who may not have ASD but do have autistic-like traits, such as social deficits.[43] Of the other four ASD forms, autism is the most similar to Asperger syndrome in signs and likely causes, but its diagnosis requires impaired communication and allows delay in cognitive development; Rett syndrome and childhood disintegrative disorder share several signs with autism but may have unrelated causes; and pervasive developmental disorder not otherwise specified (PDD-NOS) is diagnosed when the criteria for a more specific disorder are unmet.[44]
Mechanism
Functional magnetic resonance imaging provides some evidence for both underconnectivity and mirror neuron theories.[74][75]
Asperger syndrome appears to result from developmental factors that affect many or all functional brain systems, as opposed to localized effects.[76]
Although the specific underpinnings of AS or factors that distinguish it from other ASDs are unknown, and no clear pathology common to individuals with AS has emerged,[14] it is still possible that AS’s mechanism is separate from other ASDs.[77]
Neuroanatomical studies and the associations with teratogens strongly suggest that the mechanism includes alteration of brain development soon after conception.[72] Abnormal fetal development may affect the final structure and connectivity of the brain, resulting in altered neural circuits controlling thought and behavior.[78] Several theories of mechanism are available; none are likely to provide a complete explanation.[79]
Connectivity theory
The underconnectivity theory hypothesizes underfunctioning high-level neural connections and synchronization, along with an excess of low-level processes.[74] It maps well to general-processing theories such as weak central coherence theory, which hypothesizes that a limited ability to see the big picture underlies the central disturbance in ASD.[80] A related theory—enhanced perceptual functioning—focuses more on the superiority of locally oriented and perceptual operations in autistic individuals.[81]
Mirror neuron system (MNS) theory
The mirror neuron system (MNS) theory hypothesizes that alterations to the development of the MNS interfere with imitation and lead to Asperger’s core feature of social impairment.[75][82] One study found that activation is delayed in the core circuit for imitation in individuals with AS.[83] This theory maps well to social cognition theories like the theory of mind, which hypothesizes that autistic behavior arises from impairments in ascribing mental states to oneself and others;[84] or hyper-systemizing, which hypothesizes that autistic individuals can systematize internal operation to handle internal events but are less effective at empathizing when handling events generated by other agents.[85]
Diagnosis
Standard diagnostic criteria require impairment in social interaction and repetitive and stereotyped patterns of behavior, activities, and interests, without significant delay in language or cognitive development. Unlike the international standard,[42] the DSM-IV-TR criteria also required significant impairment in day-to-day functioning;[45] DSM-5 eliminated AS as a separate diagnosis in 2013, and folded it into the umbrella of autism spectrum disorders.[38] Other sets of diagnostic criteria have been proposed by Szatmari et al.[86] and by Gillberg and Gillberg.[87]
Diagnosis is most commonly made between the ages of four and eleven.[14] A comprehensive assessment involves a multidisciplinary team[10][15][88] that observes across multiple settings,[14] and includes neurological and genetic assessment as well as tests for cognition, psychomotor function, verbal and nonverbal strengths and weaknesses, style of learning, and skills for independent living.[10] The “gold standard” in diagnosing ASDs combines clinical judgment with the Autism Diagnostic Interview-Revised (ADI-R), a semistructured parent interview; and the Autism Diagnostic Observation Schedule (ADOS), a conversation and play-based interview with the child.[20] Delayed or mistaken diagnosis can be traumatic for individuals and families; for example, misdiagnosis can lead to medications that worsen behavior.[88][89]
Underdiagnosis and overdiagnosis may be problems. The cost and difficulty of screening and assessment can delay diagnosis. Conversely, the increasing popularity of drug treatment options and the expansion of benefits has motivated providers to overdiagnose ASD.[90] There are indications AS has been diagnosed more frequently in recent years, partly as a residual diagnosis for children of normal intelligence who are not autistic but have social difficulties.[91]
There are questions about the external validity of the AS diagnosis. That is, it is unclear whether there is a practical benefit in distinguishing AS from HFA and from PDD-NOS;[91]different screening tools render different diagnoses depending in the same person.[10]
Differential diagnosis
Many children with AS are initially misdiagnosed with attention deficit hyperactivity disorder (ADHD).[14] Diagnosing adults is more challenging, as standard diagnostic criteria are designed for children and the expression of AS changes with age.[92][93] Adult diagnosis requires painstaking clinical examination and thorough medical history gained from both the individual and other people who know the person, focusing on childhood behavior.[58]
Conditions that must be considered in a differential diagnosis along with ADHD include other ASDs, the schizophrenia spectrum, personality disorders, obsessive–compulsive disorder, major depressive disorder, semantic pragmatic disorder, nonverbal learning disorder, social anxiety disorder,[88][92] Tourette syndrome,[53] stereotypic movement disorder, bipolar disorder,[71] social-cognitive deficits due to brain damage from alcohol use disorder,[94] and obsessive–compulsive personality disorder (OCPD).[56][95]
Screening
Parents of children with Asperger syndrome can typically trace differences in their children’s development to as early as 30 months of age.[71] Developmental screening during a routine check-up by a general practitioner or pediatrician may identify signs that warrant further investigation.[10][14] The United States Preventive Services Task Force in 2016 found it was unclear if screening was beneficial or harmful among children in whom there are no concerns.[96]
Different screening instruments are used to diagnose AS,[10][67] including the Asperger Syndrome Diagnostic Scale (ASDS); Autism Spectrum Screening Questionnaire (ASSQ); Childhood Autism Spectrum Test (CAST), previously called the Childhood Asperger Syndrome Test;[97] Gilliam Asperger’s disorder scale (GADS); Krug Asperger’s Disorder Index (KADI);[98] and the autism-spectrum quotient (AQ), with versions for children,[99] adolescents,[100] and adults.[101] None have been shown to reliably differentiate between AS and other ASDs.[14]
Management
Asperger syndrome treatment attempts to manage distressing symptoms and to teach age-appropriate social, communication, and vocational skills that are not naturally acquired during development,[14] with intervention tailored to the needs of the individual based on multidisciplinary assessment.[102] Although progress has been made, data supporting the efficacy of particular interventions are limited.[14][103]
Therapies
Managing AS ideally involves multiple therapies that address core symptoms of the disorder. While most professionals agree that the earlier the intervention, the better, there is no treatment combination that is recommended above others.[10] AS treatment resembles that of other high-functioning ASDs, except that it takes into account the linguistic capabilities, verbal strengths, and nonverbal vulnerabilities of individuals with AS.[14] A typical program generally includes:[10]
- Applied behavior analysis (ABA) procedures, including positive behavior support (PBS)—or training and support of parents and school faculty in behavior management strategies to use in the home and school, and social skills training for more effective interpersonal interactions;[104]
- Cognitive behavioral therapy to improve stress management relating to anxiety or explosive emotions[105] and to help reduce obsessive interests and repetitive routines;
- Medication for coexisting conditions such as major depressive disorder and anxiety disorders;[106]
- Occupational or physical therapy to assist with poor sensory processing and motor coordination; and,
- Social communication intervention, which is specialized speech therapy to help with the pragmatics and give-and-take of normal conversation.[107]
Of the many studies on behavior-based early intervention programs, most are case reports of up to five participants and typically examine a few problem behaviors such as self-injury, aggression, noncompliance, stereotypies, or spontaneous language; unintended side effects are largely ignored.[108] Despite the popularity of social skills training, its effectiveness is not firmly established.[109] A randomized controlled study of a model for training parents in problem behaviors in their children with AS showed that parents attending a one-day workshop or six individual lessons reported fewer behavioral problems, while parents receiving the individual lessons reported less intense behavioral problems in their AS children.[110] Vocational training is important to teach job interview etiquette and workplace behavior to older children and adults with AS, and organization software and personal data assistants can improve the work and life management of people with AS.[14]
Medications
No medications directly treat the core symptoms of AS.[106] Although research into the efficacy of pharmaceutical intervention for AS is limited,[14] it is essential to diagnose and treat comorbid conditions.[15] Deficits in self-identifying emotions or in observing effects of one’s behavior on others can make it difficult for individuals with AS to see why medication may be appropriate.[106] Medication can be effective in combination with behavioral interventions and environmental accommodations in treating comorbid symptoms such as anxiety disorders, major depressive disorder, inattention, and aggression.[14] The atypical antipsychotic medications risperidone, olanzapine and aripiprazole have been shown to reduce the associated symptoms of AS;[14][111][112] risperidone can reduce repetitive and self-injurious behaviors, aggressive outbursts, and impulsivity, and improve stereotypical patterns of behavior and social relatedness. The selective serotonin reuptake inhibitors (SSRIs) fluoxetine, fluvoxamine, and sertraline have been effective in treating restricted and repetitive interests and behaviors,[14][15][71] while stimulant medication, such as methylphenidate, can reduce inattention.[113]
Care must be taken with medications, as side effects may be more common and harder to evaluate in individuals with AS, and tests of drugs’ effectiveness against comorbid conditions routinely exclude individuals from the autism spectrum.[106] Abnormalities in metabolism, cardiac conduction times, and an increased risk of type 2 diabetes have been raised as concerns with antipsychotic medications,[114][115] along with serious long-term neurological side effects.[108] SSRIs can lead to manifestations of behavioral activation such as increased impulsivity, aggression, and sleep disturbance.[71] Weight gain and fatigue are commonly reported side effects of risperidone, which may also lead to increased risk for extrapyramidal symptoms such as restlessness and dystonia[71] and increased serum prolactin levels.[116] Sedation and weight gain are more common with olanzapine,[115] which has also been linked with diabetes.[114] Sedative side-effects in school-age children[117] have ramifications for classroom learning. Individuals with AS may be unable to identify and communicate their internal moods and emotions or to tolerate side effects that for most people would not be problematic.[118]
Prognosis
There is some evidence that children with AS may see a lessening of symptoms; up to 20% of children may no longer meet the diagnostic criteria as adults, although social and communication difficulties may persist.[20] As of 2006, no studies addressing the long-term outcome of individuals with Asperger syndrome are available and there are no systematic long-term follow-up studies of children with AS.[30] Individuals with AS appear to have normal life expectancy, but have an increased prevalence of comorbid psychiatric conditions, such as major depressive disorder and anxiety disorders that may significantly affect prognosis.[14][20] Although social impairment may be lifelong, the outcome is generally more positive than with individuals with lower-functioning autism spectrum disorders;[14] for example, ASD symptoms are more likely to diminish with time in children with AS or HFA.[119]Most students with AS and HFA have average mathematical ability and test slightly worse in mathematics than in general intelligence, but some are gifted in mathematics.[120]
Although many attend regular education classes, some children with AS may attend special education classes such as separate classroom and resource room because of their social and behavioral difficulties.[30] Adolescents with AS may exhibit ongoing difficulty with self-care or organization, and disturbances in social and romantic relationships. Despite high cognitive potential, most young adults with AS remain at home, yet some do marry and work independently.[14] The “different-ness” adolescents experience can be traumatic.[121] Anxiety may stem from preoccupation over possible violations of routines and rituals, from being placed in a situation without a clear schedule or expectations, or from concern with failing in social encounters;[14] the resulting stress may manifest as inattention, withdrawal, reliance on obsessions, hyperactivity, or aggressive or oppositional behavior.[105] Depression is often the result of chronic frustration from repeated failure to engage others socially, and mood disorders requiring treatment may develop.[14] Clinical experience suggests the rate of suicide may be higher among those with AS, but this has not been confirmed by systematic empirical studies.[122]
Education of families is critical in developing strategies for understanding strengths and weaknesses;[15] helping the family to cope improves outcomes in children.[50] Prognosis may be improved by diagnosis at a younger age that allows for early interventions, while interventions in adulthood are valuable but less beneficial.[15] There are legal implications for individuals with AS as they run the risk of exploitation by others and may be unable to comprehend the societal implications of their actions.[15]
Epidemiology
Frequency estimates vary enormously. In 2015, it was estimated that 37.2 million people globally are affected.[11] A 2003 review of epidemiological studies of children found autism rates ranging from 0.03 to 4.84 per 1,000, with the ratio of autism to Asperger syndrome ranging from 1.5:1 to 16:1;[123] combining the geometric mean ratio of 5:1 with a conservative prevalence estimate for autism of 1.3 per 1,000 suggests indirectly that the prevalence of AS might be around 0.26 per 1,000.[124] Part of the variance in estimates arises from differences in diagnostic criteria. For example, a relatively small 2007 study of 5,484 eight-year-old children in Finland found 2.9 children per 1,000 met the ICD-10 criteria for an AS diagnosis, 2.7 per 1,000 for Gillberg and Gillberg criteria, 2.5 for DSM-IV, 1.6 for Szatmari et al., and 4.3 per 1,000 for the union of the four criteria. Boys seem to be more likely to have AS than girls; estimates of the sex ratio range from 1.6:1 to 4:1, using the Gillberg and Gillberg criteria.[125] Females with autism spectrum disorders may be underdiagnosed.[126]
Anxiety disorders and major depressive disorder are the most common conditions seen at the same time; comorbidity of these in persons with AS is estimated at 65%.[14] Reports have associated AS with medical conditions such as aminoaciduria and ligamentous laxity, but these have been case reports or small studies and no factors have been associated with AS across studies.[14] One study of males with AS found an increased rate of epilepsy and a high rate (51%) of nonverbal learning disorder.[127] AS is associated with tics, Tourette syndrome and bipolar disorder. The repetitive behaviors of AS have many similarities with the symptoms of obsessive–compulsive disorder and obsessive–compulsive personality disorder,[56] and 26% of a sample of young adults with AS were found to meet the criteria for schizoid personality disorder (which is characterised by severe social seclusion and emotional detachment), more than any other personality disorder in the sample.[128][129][130] However many of these studies are based on clinical samples or lack standardized measures; nonetheless, comorbid conditions are relatively common.[20]
History
Named after the Austrian pediatrician Hans Asperger (1906–1980), Asperger syndrome is a relatively new diagnosis in the field of autism,[131] though a syndrome like it was described as early as 1925 by Soviet child psychiatrist Grunya Sukhareva (1891–1981), leading some of those diagnosed with Asperger’s Syndrome to instead refer to their condition as ‘Sukhareva’s Syndrome’, in opposition to Hans Asperger’s association with Nazism.[132] As a child, Asperger appears to have exhibited some features of the very condition named after him, such as remoteness and talent in language.[133][134] In 1944, Asperger described four children in his practice[15] who had difficulty in integrating themselves socially and showing empathy towards peers. They also lacked nonverbal communication skills and were physically clumsy. Asperger described this “autistic psychopathy” as social isolation.[10] Fifty years later, several standardizations of AS as a medical diagnosis were tentatively proposed, many of which diverge significantly from Asperger’s original work.[135]
Unlike today’s AS, autistic psychopathy could be found in people of all levels of intelligence, including those with intellectual disability.[136] Asperger defended the value of so-called “high-functioning” autistic individuals, writing: “We are convinced, then, that autistic people have their place in the organism of the social community. They fulfill their role well, perhaps better than anyone else could, and we are talking of people who as children had the greatest difficulties and caused untold worries to their care-givers.”[25] Asperger also believed some would be capable of exceptional achievement and original thought later in life.[15]
Asperger’s paper was published during World War II and in German, so it was not widely read elsewhere. Lorna Wing used the term Asperger syndrome in 1976,[137] and popularized it to the English-speaking medical community in her February 1981 publication[138][139][140] of case studies of children showing the symptoms described by Asperger,[131] and Uta Frith translated his paper to English in 1991.[25] Sets of diagnostic criteria were outlined by Gillberg and Gillberg in 1989 and by Szatmari et al. in the same year.[125] In 1992, AS became a standard diagnosis when it was included in the tenth edition of the World Health Organization‘s diagnostic manual, International Classification of Diseases (ICD-10). It was added to the fourth edition of the American Psychiatric Association‘s diagnostic reference, Diagnostic and Statistical Manual of Mental Disorders (DSM-IV), published in 1994.[10]
Hundreds of books, articles, and websites now describe AS and prevalence estimates have increased dramatically for ASD, with AS recognized as an important subgroup.[131]Whether it should be seen as distinct from high-functioning autism is a fundamental issue requiring further study,[15] and there are questions about the empirical validation of the DSM-IV and ICD-10 criteria.[30] In 2013, DSM-5 eliminated AS as a separate diagnosis, folding it into the autism spectrum on a severity scale.[38]
Society and culture
People identifying with Asperger syndrome may refer to themselves in casual conversation as aspies (a term first used in print in the Boston Globe in 1998).[141][142] Some autistic people have advocated a shift in perception of autism spectrum disorders as complex syndromes rather than diseases that must be cured. Proponents of this view reject the notion that there is an “ideal” brain configuration and that any deviation from the norm is pathological; they promote tolerance for what they call neurodiversity.[143] These views are the basis for the autistic rights and autistic pride movements.[144] There is a contrast between the attitude of adults with self-identified AS, who typically do not want to be cured and are proud of their identity; and parents of children with AS, who typically seek assistance and a cure for their children.[145]
Some researchers have argued that AS can be viewed as a different cognitive style, not a disorder,[21] and that it should be removed from the standard Diagnostic and Statistical Manual, much as homosexuality was removed.[146] In a 2002 paper, Simon Baron-Cohen wrote of those with AS: “In the social world, there is no great benefit to a precise eye for detail, but in the worlds of maths, computing, cataloging, music, linguistics, engineering, and science, such an eye for detail can lead to success rather than failure.” Baron-Cohen cited two reasons why it might still be useful to consider AS to be a disability: to ensure provision for legally required special support, and to recognize emotional difficulties from reduced empathy.[22] Baron-Cohen argues that the genes for Asperger’s combination of abilities have operated throughout recent human evolution and have made remarkable contributions to human history.[147]
By contrast, Pier Jaarsma and Welin wrote in 2011 that the “broad version of the neurodiversity claim, covering low-functioning as well as high-functioning autism, is problematic. Only a narrow conception of neurodiversity, referring exclusively to high-functioning autists, is reasonable.”[148] They say that “higher functioning” individuals with autism may “not [be] benefited with such a psychiatric defect-based diagnosis […] some of them are being harmed by it, because of the disrespect the diagnosis displays for their natural way of being”, but “think that it is still reasonable to include other categories of autism in the psychiatric diagnostics. The narrow conception of the neurodiversity claim should be accepted but the broader claim should not.”[148] Jonathan Mitchell, an autistic author and blogger who advocates a cure for autism, has described autism as having “prevented me from making a living or ever having a girlfriend. It’s given me bad fine motor coordination problems where I can hardly write. I have an impaired ability to relate to people. I can’t concentrate or get things done.”[149] He describes neurodiversity as a “tempting escape valve”.[150]
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