Childhood Disintegrative Disorder

This rather rare condition was described many years before autism (Heller, 1908) but has only recently been 'officially' recognized. With CDD children develop a condition which resembles autism but only after a relatively prolonged period (usually 2 to 4 years) of clearly normal development (Volkmar, 1994). This condition apparently differs from autism in the pattern of onset, course, and outcome (Volkmar, 1994). Although apparently rare the condition probably has frequently been incorrectly diagnosed.

Criteria and Clinical Features

Both the DSM-IV and ICD-10 provide criteria for this condition. The criteria are rather similar in both, although some differences between the two systems are apparent (see recent publications). The condition develops in children who have previously seemed perfectly normal. Typically language, interest in the social environment, and often toileting and self-care abilities are lost, and there may be a general loss of interest in the environment. The child usually comes to look very 'autistic', i.e., the clinical presentation (but not the history) is then typical of a child with autism.

History

A special educator in Vienna, Theodore Heller, proposed the term dementia infantilis to account for the condition. Few papers on the topic appeared and these were mostly case reports. The presumption until recently was that this condition was ALWAYS associated with some specific neuropathological process. However, current data do not support this, and in most cases after even very extensive testing no specific medical cause for the condition is found. As with autism, children who suffer from this condition are at increased risk for seizures.

Etiology/Cause

The etiology is unknown but several lines of evidence suggest that it arises as a result of some form of central nervous system pathology.

Epidemiology

More boys than girls appear to be affected. Childhood disintegrative disorder is perhaps 10 times less common than more strictly defined autism (Volkmar, 1994).

Case Illustration

John's early history was within normal limits. By age 2 he was speaking in sentences, and his development appeared to be proceeding appropriately. At age 30 months he was noted to abruptly exhibit a period of marked behavioral regression shortly after the birth of a sibling. He lost previously acquired skills in communication and was no longer toilet trained. He became uninterested in social interaction, and various unusual self-stimulatory behaviors became evident. Comprehensive medical examination failed to reveal any conditions that might account for this development regression. Behaviorally he exhibited features of autism. At follow-up at age 12 he still was not speaking, apart from an occasional single word, and had been placed in a school for the severely disabled.

Parent Resources

Childhood Disintegrative Disorder Network - organized by parents of children with the condition.

Contact

• Jenny Fairthorne, 56 The Avenue, Nedlands 6009, Western Australia
• Madeline Catalano, 1172 Four Mile Rd., Allegany, NY 14786
• National Organization for Rare Diseases in Westport, CT, USA