Autism spectrum disorders (ASD) have a history and it started with the Jewish physician Leo Kanner (1894–1981), born in a small village in Galicia, which at that time was part of Austria-Hungary. He studied medicine in Berlin and graduated in 1921, but emigrated to the United States in 1924 to take a position at the State Hospital in Yankton County, South Dakota. In 1930, he was selected to develop the first child psychiatry service at Johns Hopkins Hospital, Baltimore, Maryland, where he in 1933 became associate professor of psychiatry. He was in reality the first physician in the world identified as a child psychiatrist, the founder of the first academic child psychiatry department at Johns Hopkins University Hospital, and his first textbook “Child Psychiatry” from 1935 was the first English language textbook in this field. In his 1943 article on autistic disturbances of affective contact, he described the specific syndrome of autism. He applied the Greek word autos or self to what he termed early infantile autism (Kanner’s syndrome) characterized by the inability to relate to and interact with people from the beginning of life; the inability to communicate with others through language; an obsession with maintaining sameness and resisting change; a preoccupation with objects rather than people; and the occasional evidence of good potential for intelligence.
In Austria, the pediatrician Hans Asperger (1906–1980) in 1944 described a neurobiological disorder with a pattern of behavior in several young boys who had normal intelligence and language development, but exhibited autistic-like behaviors and marked deficiencies in social and communication skills. Despite the publication of his article in 1944, it was not until 1994 that Asperger’s syndrome was added to the Diagnostic and Statistical Manual of Mental Disorders (DSM) IV, and only in the past few years has Asperger’s syndrome been recognized by professionals and parents.
The term pervasive developmental disorders (PDD) was first used in the 1980s to describe a class of disorders. This class of disorders has in common the following characteristics: impairments in social interaction, imaginative activity, verbal and nonverbal communication skills, and a limited number of interests and activities that tend to be repetitive. In the manual DSM used by physicians and mental health professionals as a guide to diagnose disorders, five disorders are identified under the category of pervasive developmental disorders: (i) autistic disorder, (ii) Rett disorder or syndrome, (iii) childhood disintegrative disorder, (iv) Asperger’s disorder or syndrome, and (v) pervasive developmental disorder not otherwise specified, or PDD-NOS.
Autism and PDD-NOS are developmental disabilities that share many of the same characteristics. Usually evident by age three, autism and PDD-NOS are neurological disorders that affect a child’s ability to communicate, understand language, play, and relate to others. Due to the similarity of behaviors associated with autism and PDD, use of the term pervasive developmental disorder has caused some confusion among parents and professionals. However, the treatment and educational needs are similar for both diagnoses. The causes of autism and PDD are unknown. Although the prognosis for children with ASD is variable, the disorder generally has lifelong effects on the ability to socialize, to care for him/herself, and to participate meaningfully in the community. The disorder may adversely impact not just the affected child, but also his/her family members. Currently there is no effective means for prevention, no biomarkers for early diagnosis, and no specific treatment approach or a drug that can “cure” the disorder.
Interest in ASD has exploded in the past decade following the vast increase in the prevalence of ASD to 1:100-1:150 in the most recent reports. The dramatic increase in ASD cases has been accompanied by an increase in public and professional awareness and an abundance of new research and treatment strategies. What was once thought to be a rare, severe disorder is now recognized to be a common neurobehavioral disorder, which occurs along a broad continuum. Autism is probably not a single disorder, but rather reflects many different disorders with broad behavioral phenotypes causing atypical development.
Evidence from twin and family studies indicates that autism is heritable. However, no single specific gene has been consistently identified to be playing a major role in most cases. Rather, autism is thought to involve a complex interaction between multiple and variable susceptibility genes and epigenetic effects. Although brain abnormalities in autism are complex and not consistently identified, an intriguing pattern of brain growth has been discovered that involves rapid growth of head circumference during the first 3-4 years of life that slows down later in development. Enlarged white matter, variation in myelination, and impaired connectivity between brain regions were discovered and are thought to be related to functional impairments and poor information processing.
Early identification of ASD and early provision of treatment can improve outcomes for many affected children. The need for early focused intervention that will result in meaningful outcomes in cognitive, language, and adaptive skills provides a fertile ground for intervention research across many disciplines. The majority of children with ASD will need intensive and regular therapy aimed at improving communication, socialization, and behavior and to improve cognition, language, and adaptive skills. Behavioral, educational, and psychosocial interventions have been the cornerstone of treatment for individuals with ASD. The complexity of the disorder frequently requires complex treatment strategies, which include the integration of many treatments that are tailored to the child’s needs and may need to change throughout development.
This issue of the Pediatric Clinics of North America is therefore timely, because of the many changes in this field and the need for primary physicians to pay attention to early symptoms and secure early and intensive intervention for the affected children and support for their families.

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