Asperger syndrome

• 1. Introduction

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  Asperger syndrome, by one 2015 estimate, affected 37.2 million people worldwide, roughly 0.5% of the global population. Yet the newest editions of the major diagnostic manuals no longer list it as a diagnosis of its own. Who first described the pattern behind the name, and did the man whose name it carries invent the label? How does a diagnosis go from standard medical vocabulary to retired category within a few decades? What did the condition look like in daily life, and what do scientists think lies beneath it? And why does the argument over whether it is a disorder at all refuse to settle?

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• 2. A Name Borrowed

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  In 1944, the Austrian pediatrician Hans Asperger described four children from his own practice. They struggled to form friendships, misread other people's gestures and feelings, held one-sided conversations about their favorite interests, and moved clumsily. Asperger called the pattern "autistic psychopathy" and understood it as a form of social isolation.

  Asperger, who lived from 1906 to 1980, was not the one who coined the syndrome that carries his name. The Soviet child psychiatrist Grunya Sukhareva, who lived from 1891 to 1981, had described a similar syndrome as early as 1925. Asperger himself seems to have shown some features of the condition as a child, including remoteness and a talent for language.

  Asperger's own view was broader than the diagnosis later built on his work. He believed autistic psychopathy appeared at every level of intelligence, including among people with intellectual disability. That makes his idea closer to the autism spectrum of today than to Asperger syndrome as later defined.

  Asperger defended the so-called high-functioning autistic individuals in print. Autistic people, he wrote, "have their place in the organism of the social community." They fulfill their role well, in his words, "perhaps better than anyone else could." He also expected some of them to achieve exceptional things and to think originally later in life.

  Because the paper appeared during World War II and in German, few readers elsewhere saw it. The English psychiatrist Lorna Wing used the term Asperger syndrome in 1976. In February 1981 she published case studies of children showing the symptoms Asperger had described, which carried the term to English-speaking doctors. Uta Frith translated Asperger's paper into English in 1991. Many of the formal definitions proposed roughly fifty years after his paper diverge significantly from his original work.

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• 3. From Manuals To Merger

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  Two sets of diagnostic criteria appeared in 1989, one from Gillberg and Gillberg and one from Szatmari and colleagues. The World Health Organization then added the diagnosis to the tenth edition of its International Classification of Diseases. That edition was published in 1990 and took effect in 1993. The American Psychiatric Association followed in 1994, placing it in the fourth edition of its Diagnostic and Statistical Manual of Mental Disorders. Hundreds of books, articles and websites soon described the condition, and estimates for autism spectrum disorder climbed dramatically. Asperger syndrome came to be seen as an important subgroup.

  The DSM-5, published in 2013, removed the diagnosis. Its symptoms were absorbed into autism spectrum disorder, alongside classic autism and a catch-all category called pervasive developmental disorder not otherwise specified. The ICD-11 followed, published in 2018 and in effect from 2022. It describes the former diagnosis as autism spectrum disorder without a disorder of intellectual development and with mild or no impairment of functional language.

  The DSM-5 also introduced severity levels, and most people once diagnosed with Asperger syndrome would now be placed at "level 1." The autistic community widely opposes these levels, and the ICD-11 leaves them out. Asperger syndrome had been considered milder than other diagnoses, but the merger was meant to reflect a unified view of autism-related conditions. It was not meant as a judgment on people already diagnosed. Like the diagnosis itself, the change was controversial.

  Methodological problems troubled Asperger syndrome as a valid diagnosis from the outset. A 2007 study of 5,484 eight-year-old children in Finland shows how much the definition mattered. The ICD-10 criteria found 2.9 children per 1,000, the Gillberg and Gillberg criteria 2.7, and the DSM-IV criteria 2.5. The Szatmari criteria found only 1.6, while the union of all four reached 4.3 per 1,000. The DSM-IV-TR also demanded significant impairment in day-to-day functioning, which the international standard did not.

  The overlap with what was sometimes called high-functioning autism remained unclear. Different screening tools could give the same person different diagnoses, and it was uncertain whether separating Asperger syndrome from autism brought any practical benefit. Some argued that it also became a residual diagnosis for children of normal intelligence who were not autistic but had social difficulties. Boys were diagnosed more often, with sex ratio estimates from 1.6:1 to 4:1, and girls were typically diagnosed later. Screening instruments multiplied, among them a questionnaire first named the Childhood Asperger Syndrome Test and later renamed the Childhood Autism Spectrum Test.

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• 4. Active But Odd

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  Clinicians once summed up the social style of many people with Asperger syndrome as "active but odd." Unlike some with other forms of autism, they often approached others, even if awkwardly. One person might deliver a long, one-sided speech on a favorite topic while missing the listener's wish to change the subject. Some did the opposite and fell into selective mutism, saying nothing to most people and talking excessively to a few.

  In a laboratory, children with the condition can often state social norms and show a theoretical grasp of other people's emotions. Fluid real-life situations are harder. Some turn their observations into rigid behavioral rules and apply them awkwardly, such as forcing eye contact. Repeated failures to build friendships can lead to isolation, yet autistic people overwhelmingly report a wish for social contact.

  Children with the condition were often called "little professors" because of a sophisticated vocabulary at a young age. They tended to use language literally and had particular trouble with humor, irony, teasing and sarcasm. They usually understood the logic of a joke but not its purpose of sharing enjoyment. Speech could be unusually fast, jerky or loud, with a narrow range of intonation. Monologues might wander, supply no context, and never reach a point. Echolalia, the repeating of words heard, has also been observed.

  The idea that people with Asperger syndrome are prone to violence or crime has been investigated and is unsupported by data. The evidence points more toward children with the diagnosis being victims than offenders. A 2008 review of just 37 people found that about 80% of reported violent criminals with the diagnosis also had coexisting psychotic disorders such as schizoaffective disorder.

  Empathy is easy to misread in people with an Asperger profile. Some feel deeply but show little on the face or in words, and some arrive at empathy through logic and reasoning. Bullying and exclusion can make a person guarded, which may look like coldness. Many show strong concern for individual rights, animal rights, environmental protection and humanitarian causes. Under the double empathy problem model, autistic people have an interaction style that other autistic people can read significantly better than non-autistic people can.

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• 5. Collections And Clumsiness

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  A child who memorizes camera model numbers while caring little about photography captures one of the condition's most striking features. Others gather detailed facts on narrow subjects such as weather data or star names, without necessarily grasping the wider field. The habit is usually clear by age five or six. Interests may change over time, but they tend to become more unusual and narrowly focused. They can dominate conversation so thoroughly that the whole family becomes immersed. Because narrow topics often captivate children anyway, the pattern can go unnoticed. Some people also keep inflexible routines or line objects up in patterns.

  Repetitive movements known as stimming are a core part of the diagnosis. They include hand flapping or twisting and complex whole-body motions, and they are believed to soothe the person and regulate sensory input. They come in longer bursts and look more deliberate than tics, which are faster, less rhythmical and less often symmetrical. Studies report Tourette syndrome alongside Asperger syndrome in 8-20% of cases, with one figure as high as 80% for tics of some kind. Adults assessed with the Adult Asperger Assessment often show little interest in fiction and a preference for non-fiction.

  Hans Asperger's first accounts already described physical clumsiness. Children may be late to learn skills such as riding a bicycle or opening a jar. They may seem "uncomfortable in their own skin," with a bouncy gait, poor handwriting or trouble with balance and coordination. There is no evidence that these motor problems separate Asperger syndrome from other high-functioning forms of autism.

  Senses can run in both directions. Many people have excellent auditory and visual perception, and children on the spectrum often notice small changes in familiar patterns or images. Compared with high-functioning autism, however, Asperger syndrome shows deficits in some tasks involving visual-spatial perception, auditory perception or visual memory. Some people are unusually sensitive or insensitive to sound and light, though these responses appear in other developmental conditions too.

  Children with the diagnosis are more likely to have sleep problems, including trouble falling asleep and frequent or early waking. The condition is also tied to alexithymia, which is difficulty identifying and describing one's own emotions. Sleep, alexithymia and the diagnosis are associated with each other, but the causal relationship is unclear. Where such differences begin is a question researchers trace to the first weeks after conception.

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• 6. Roots In Development

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  Hans Asperger noticed similar traits in his patients' relatives, especially their fathers, and later research backs that observation. Hundreds of genes have been linked to the condition, and they shape how the brain matures and works. No single genetic factor has been identified. Families often include members with milder, similar traits, such as some trouble with social interaction, language or reading. Behavioral genetic research suggests all autism spectrum disorders share genetic mechanisms, with varied combinations of vulnerable gene variants producing different severity and symptoms.

  A few cases of autism spectrum disorder have been linked to teratogens, agents that cause birth defects, during the first eight weeks after conception. That is strong evidence the condition arises very early in development, though it does not rule out later influences. Many environmental factors acting after birth have been proposed, but none has been confirmed. Brain imaging has not found a common underlying condition. The picture that emerges is one of developmental factors affecting many or all functional brain systems rather than one localized region.

  Weak central coherence theory proposes that a limited ability to see the big picture lies at the center of the condition. A related idea, enhanced perceptual functioning, stresses the superiority of locally focused perceptual operations. The mirror neuron system theory claimed that altered development of these cells disrupts imitation and produces the core social impairment. Studies from the last ten years show no overall support for it, and the theory has been criticised.

  Two newer models offer alternatives. The emulation and planning model, called EP-M, proposes that mimicry is impaired, so a child may struggle to copy a meaningless gesture or facial expression. The social top-down response modulation model, called STORM, proposes that the processing of actions and their social significance is reduced. Both conflict with the notion that the mirror system in autistic people is simply broken.

  One study found delayed activation in the core circuit for imitation in people with the diagnosis. Theory of mind ties such findings to the idea that autistic behavior comes from difficulty ascribing mental states to oneself and others. Hyper-systemizing offers a different view, in which autistic people systematize their own internal operations well but are less effective at empathizing with events generated by other agents.

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• 7. Care And Outcomes

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  The UK's National Health Service guidelines say that "treatment" should not be the goal for any form of autism, because autism is not "a disease that can be removed or cured." The Royal College of Psychiatrists says co-occurring conditions may need treatment, but management of autism itself is chiefly about "the provision of the education, training, and social support/care" a person needs. Evidence for particular interventions is limited. Most studies of behavior-based early intervention are case reports of up to five participants.

  Applied behavior analysis has drawn sharp criticism. The Autistic Self Advocacy Network campaigns against it, and advocates argue it pushes autistic people to mask their traits for a narrow idea of normality. Recent studies suggest it may be abusive and can increase PTSD symptoms. Cognitive behavioral therapy gets mixed reports. Many people say they seemed "too self-aware" to gain much, since the therapy was designed with neurotypical people in mind. A randomized study found that parents who attended a one-day workshop or six individual lessons reported fewer behavioral problems in their children.

  No medication directly treats the core symptoms. Drugs are aimed at coexisting problems such as anxiety, depression, inattention and aggression. The antipsychotics risperidone, olanzapine and aripiprazole have reduced associated symptoms, and the antidepressants fluoxetine, fluvoxamine and sertraline have helped with restricted and repetitive interests. Methylphenidate can reduce inattention. Side effects may be more common and harder to evaluate, and drug trials routinely exclude people on the autism spectrum. Weight gain and fatigue are common with risperidone, and sedation and weight gain with olanzapine. Difficulty naming internal moods can make side effects hard to report.

  Up to 20% of children may no longer meet the diagnostic criteria as adults, though social and communication difficulties usually persist. Life expectancy appears normal. Anxiety and major depressive disorder are the most common coexisting conditions, estimated at 65%. No systematic long-term follow-up studies of children with the diagnosis exist. Many are first misdiagnosed with attention deficit hyperactivity disorder, and adult diagnosis is harder because standard criteria were designed for children.

  Suicidal thoughts and behaviors are a serious concern. One study found adults with the diagnosis had suicidal thoughts at 9 times the rate of the general population. Among autistic participants, 66% had experienced suicidal ideation and 35% had planned or attempted suicide. Younger diagnosis and early support improve the outlook, and helping families cope improves outcomes for children.

  Strengths appear in the research as well. Mathematicians are at least three times more likely than the general population to have autism-spectrum traits, and they are more likely to have relatives with autism.

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• 8. Disorder Or Difference

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  In 1998, the Boston Globe printed the word "aspies," the first known appearance in print of a nickname people with the diagnosis use for themselves. Many kept identifying with the term Asperger's after it left the manuals. It had been used for a long time, it felt personally relevant, and it shaped their diagnostic history and sense of community.

  The neurodiversity paradigm treats autism as a neurominority cognitive style rather than a disease to be cured. Its proponents reject the idea of an ideal brain configuration from which any deviation is pathological. Those views underpin the autistic rights and autistic pride movements. People with the diagnosis typically do not want a cure and take pride in their identity, while parents of affected children more often seek one. Some researchers argue autism should leave the psychiatric manuals altogether, much as homosexuality was removed.

  In 2002, Simon Baron-Cohen, a researcher associated with the pathology view of autism, wrote that a precise eye for detail brings little benefit in the social world. In maths, computing, cataloging, music, linguistics, engineering and science, he added, it "can lead to success rather than failure." He still saw two reasons to treat the condition as a disability. One was to secure legally required special support. The other was to recognize emotional difficulties from reduced empathy, an idea that has since lost support. He argues that the genes behind this combination of abilities have operated throughout recent human evolution and made remarkable contributions to human history.

  Pier Jaarsma and Welin pushed back in 2011. They wrote that "Only a narrow conception of neurodiversity, referring exclusively to high-functioning autists, is reasonable." In their view, a diagnosis based on defects may harm higher-functioning people because of the disrespect it shows for their natural way of being. They still thought it reasonable to keep other categories of autism in psychiatric diagnostics.

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