If you have questions about autism spectrum disorders, this detailed booklet describes symptoms, causes, and treatments, with information on getting help and coping.
Autism Spectrum Disorders (Pervasive Developmental Disorders)
Not until the middle of the twentieth century was there a name for a disorder that now appears to affect an estimated one of every five hundred children, a disorder that causes disruption in families and unfulfilled lives for many children. In 1943 Dr. Leo Kanner of the Johns Hopkins Hospital studied a group of 11 children and introduced the label early infantile autism into the English language. At the same time a German scientist, Dr. Hans Asperger, described a milder form of the disorder that became known as Asperger syndrome. Thus these two disorders were described and are today listed in the Diagnostic and Statistical Manual of Mental Disorders DSM-IV-TR (fourth edition, text revision)1 as two of the five pervasive developmental disorders (PDD), more often referred to today as autism spectrum disorders (ASD). All these disorders are characterized by varying degrees of impairment in communication skills, social interactions, and restricted, repetitive and stereotyped patterns of behavior.
The autism spectrum disorders can often be reliably detected by the age of 3 years, and in some cases as early as 18 months.2 Studies suggest that many children eventually may be accurately identified by the age of 1 year or even younger. The appearance of any of the warning signs of ASD is reason to have a child evaluated by a professional specializing in these disorders.
Parents are usually the first to notice unusual behaviors in their child. In some cases, the baby seemed “different” from birth, unresponsive to people or focusing intently on one item for long periods of time. The first signs of an ASD can also appear in children who seem to have been developing normally. When an engaging, babbling toddler suddenly becomes silent, withdrawn, self-abusive, or indifferent to social overtures, something is wrong. Research has shown that parents are usually correct about noticing developmental problems, although they may not realize the specific nature or degree of the problem.
The pervasive developmental disorders, or autism spectrum disorders, range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. If a child has symptoms of either of these disorders, but does not meet the specific criteria for either, the diagnosis is called pervasive developmental disorder not otherwise specified (PDD-NOS). Other rare, very severe disorders that are included in the autism spectrum disorders are Rett syndrome and childhood disintegrative disorder. This brochure will focus on classic autism, PDD-NOS, and Asperger syndrome, with brief descriptions of Rett syndrome and childhood disintegrative disorder on the following page.
Rare Autism Spectrum Disorders
Rett syndrome is relatively rare, affecting almost exclusively females, one out of 10,000 to 15,000. After a period of normal development, sometime between 6 and 18 months, autism-like symptoms begin to appear. The little girl’s mental and social development regresses — she no longer responds to her parents and pulls away from any social contact. If she has been talking, she stops; she cannot control her feet; she wrings her hands. Some of the problems associated with Rett syndrome can be treated. Physical, occupational, and speech therapy can help with problems of coordination, movement, and speech.
Scientists sponsored by the National Institute of Child Health and Human Development have discovered that a mutation in the sequence of a single gene can cause Rett syndrome. This discovery may help doctors slow or stop the progress of the syndrome. It may also lead to methods of screening for Rett syndrome, thus enabling doctors to start treating these children much sooner, and improving the quality of life these children experience.*
Childhood Disintegrative Disorder
Very few children who have an autism spectrum disorder (ASD) diagnosis meet the criteria for childhood disintegrative disorder (CDD). An estimate based on four surveys of ASD found fewer than two children per 100,000 with ASD could be classified as having CDD. This suggests that CDD is a very rare form of ASD. It has a strong male preponderance.** Symptoms may appear by age 2, but the average age of onset is between 3 and 4 years. Until this time, the child has age-appropriate skills in communication and social relationships. The long period of normal development before regression helps differentiate CDD from Rett syndrome.
The loss of such skills as vocabulary are more dramatic in CDD than they are in classical autism. The diagnosis requires extensive and pronounced losses involving motor, language, and social skills.*** CDD is also accompanied by loss of bowel and bladder control and oftentimes seizures and a very low IQ.
*Rett syndrome. NIH Publication No. 01-4960. Rockville, MD: National Institute of Child Health and Human Development, 2001. Available here.
**Frombonne E. Prevalence of childhood disintegrative disorder. Autism, 2002; 6(2): 149-157.
***Volkmar RM and Rutter M. Childhood disintegrative disorder: Results of the DSM-IV autism field trial. Journal of the American Academy of Child and Adolescent Psychiatry, 1995; 34: 1092-1095.
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All clinical material on this site is peer reviewed by one or more clinical psychologists or other qualified mental health professionals. This specific article was originally published by Dr Greg Mulhauser, Managing Editor on .on and was last reviewed or updated by