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Diagnostic substitution is a phenomenon in which one label for a condition becomes replaced with another, causing an apparent decrease in the rate of the first condition and increase in the rate of the second. [1]
The best-known example is that of the increasing rates of autism in developed countries such as the United States, which some studies suggest is at least partly a result of people substituting diagnoses of autism for mental retardation and learning disabilities. [2] [3] [4] While a pilot study by the MIND Institute published in 2002 concluded that "There is no evidence that loosening in diagnostic criteria contributed to an increase in the number of children with autism," [5] this study used data from the California Department of Developmental Services database, which, according to a study by Paul Shattuck, is unreliable because "...the administrative prevalence figures for most states are well below epidemiological estimates." [2] With regard to the role of diagnostic substitution in the increase in reported cases of autism, Dorothy Bishop has said, "This could be in part because of new conceptualisations of autism, but may also be fuelled by strategic considerations: resources for children with ASD tend to be much better than those for children with other related conditions, such as language impairment or intellectual handicaps, so this diagnosis may be preferred." [6] [7] Bishop has herself published a small study concluding that people who would now be diagnosed as autistic would, in the past, have been diagnosed with developmental language disorder. [8] Emily Willingham has noted that at the time autism was first reported by Leo Kanner in 1943, while autistic people existed before that time, they had historically been referred to as insane, schizophrenic, mentally retarded, or language impaired. [9]
Asperger syndrome (AS), also known as Asperger's, is a neurodevelopmental condition characterized by significant difficulties in social interaction and nonverbal communication, along with restricted and repetitive patterns of behaviour and interests. The syndrome is no longer recognised as a diagnosis in itself, having been merged with other conditions into autism spectrum disorder (ASD). It was considered to differ from other diagnoses that were merged into ASD by relatively unimpaired spoken language and intelligence.
A pervasive developmental disorder not otherwise specified (Including atypical autism) (PDD-NOS) is one of four disorders which have been collapsed into the diagnosis of autism spectrum disorder in the DSM-5 and also was one of the five disorders classified as a pervasive developmental disorder (PDD) in the DSM-IV. According to the DSM-4, PDD-NOS is a diagnosis that is used for " mild or severe pervasive deficits in the development of reciprocal social interaction and/or verbal and nonverbal communication skills, or when stereotyped behavior, interests, and/or activities are present, but the criteria are not met for a specific PDD" or for several other disorders. PDD-NOS includes atypical autism, because the criteria for autistic disorder are not met, for instance because of late age of onset, atypical symptomatology, or subthreshold symptomatology, or all of these. Even though PDD-NOS is considered milder than typical autism, this is not always true. While some characteristics may be milder, others may be more severe.
Diagnoses of autism have become more frequent since the 1980s, which has led to various controversies about both the cause of autism and the nature of the diagnoses themselves. Whether autism has mainly a genetic or developmental cause, and the degree of coincidence between autism and intellectual disability, are all matters of current scientific controversy as well as inquiry. There is also more sociopolitical debate as to whether autism should be considered a disability on its own.
Autism spectrum disorder (ASD) is a developmental disorder that begins in early childhood, persists throughout adulthood, and affects three crucial areas of development: communication, social interaction and restricted patterns of behavior. There are many conditions comorbid to autism spectrum disorder such as fragile X syndrome and epilepsy.
Specific language impairment (SLI) is diagnosed when a child's language does not develop normally and the difficulties cannot be accounted for by generally slow development, physical abnormality of the speech apparatus, autism spectrum disorder, apraxia, acquired brain damage or hearing loss. Twin studies have shown that it is under genetic influence. Although language impairment can result from a single-gene mutation, this is unusual. More commonly SLI results from the combined influence of multiple genetic variants, each of which is found in the general population, as well as environmental influences.
The UC Davis MIND Institute is a research and treatment center affiliated with the University of California, Davis, with facilities located on the UC Davis Medical Center campus in Sacramento, California. The institute is a consortium of scientists, educators, physicians and parents dedicated to researching the causes of and treatments for autism spectrum disorders, fragile X syndrome, and other neurodevelopmental disorders. The director of the MIND institute is Dr. Leonard Abbeduto.
The Autism Diagnostic Observation Schedule (ADOS) is a standardized diagnostic test for diagnosing and assessing autism, now in its second edition as of 2012. It is considered to be a "gold standard" in diagnosing Autism Spectrum Disorder (ASD).
Many causes of autism have been proposed, but understanding of the theory of causation of autism, or otherwise known as autism spectrum disorder (ASD) is incomplete. Attempts have been made to incorporate the known genetic and environmental causes into a comprehensive causative framework. ASD is a complex developmental condition marked by persistent challenges to social interaction, speech and nonverbal communication, and restricted/repetitive behaviors and its phenotypes vary significantly.
The epidemiology of autism is the study of the incidence and distribution of autism spectrum disorders (ASD). A 2022 systematic review of global prevalence of autism spectrum disorders found a median prevalence of 1% in children in studies published from 2012 to 2021, with a trend of increasing prevalence over time. However, the study's 1% figure may reflect an underestimate of prevalence in low- and middle-income countries.
Kanner syndrome, officially childhood autism, was a neurodevelopmental diagnosis before the release of the DSM-5 and ICD-11. It has been superseded by autism spectrum disorder. In daily speech it is often referred to as "classic autism", or "Kanner autism."
The epidemiology of child psychiatric disorders is the study of the incidence, prevalence, and distribution of conditions in child and adolescent psychiatry. Subfields of pediatric psychiatric epidemiology include developmental epidemiology, which focuses on the genetic and environmental causes of child psychiatric disorders. The field of pediatric psychiatric epidemiology finds widely varying rates of childhood psychiatric disorders, depending on study population, diagnostic method, and cultural setting.
Several factors complicate the diagnosis of Asperger syndrome (AS), an autism spectrum disorder (ASD). Like other ASD forms, Asperger syndrome 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 or cognitive development. Problems in diagnosis include disagreement among diagnostic criteria, the 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.
Autism, formally called Autism Spectrum Disorder (ASD) and Autism Spectrum Condition (ASC), and sometimes called the autism spectrum, is a neurodevelopmental disorder characterized by deficits in social communication and social interaction, and repetitive or restricted patterns of behaviors, interests, or activities, which can include hyper- and hyporeactivity to sensory input.
The imprinted brain hypothesis is an unsubstantiated hypothesis in evolutionary psychology regarding the causes of autism spectrum and schizophrenia spectrum disorders, first presented by Bernard Crespi and Christopher Badcock in 2008. It claims that certain autistic and schizotypal traits are opposites, and that this implies the etiology of the two conditions must be at odds.
Paul T. Shattuck is an autism researcher at the A.J. Drexel Autism Institute at Drexel University, where he leads the Research Program Area on Life Course Outcomes. He was previously a faculty member at the George Warren Brown School of Social Work at Washington University in St. Louis.
Diagnosis, treatment, and experiences of autism varies globally. Although the diagnosis of autism is rising in post-industrial nations, diagnosis rates are much lower in developing nations.
Men and boys are more frequently diagnosed with autism than women and girls. It is debated whether this is due to a sex difference in rates of autism spectrum disorders (ASD) or whether females are underdiagnosed. The prevalence ratio is often cited as about 4 males for every 1 female diagnosed. Other research indicates that it closer to 3:1 or 2:1. One in every 42 males and one in 189 females in the United States is diagnosed with autism spectrum disorder. There is some evidence that females may also receive diagnoses somewhat later than males; however, thus far results have been contradictory.
Low-functioning autism (LFA) is a degree of autism marked by difficulties with social communication and interaction, challenging behavior, and differences in social or emotional reciprocity. Sleep problems, aggression, stereotypical, and self-injurious behavior are also common symptoms. LFA is not a recognized diagnosis in the DSM-5 or ICD-10, as neither subdivides autism based on intellectual capabilities.
John N. Constantino is a child psychiatrist and expert on neurodevelopmental disorders, especially autism spectrum disorders (ASD). Constantino is the Blanche F. Ittleson Professor of Psychiatry and Pediatrics at Washington University School of Medicine.
Social (pragmatic) communication disorder (SPCD) - previously called semantic-pragmatic disorder (SPD) or pragmatic language impairment (PLI) - is a disorder in understanding pragmatic aspects of language. People with SPCD have special challenges with the semantic aspect of language and the pragmatics of language. Individuals have difficulties with verbal and nonverbal social communication.
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