Childhood Disintegrative Disorder

Childhood Disintegrative Disorder is a rare but serious condition that afflicts one or two out of 100,000 children. It is also known as Heller’s syndrome, named after the doctor who discovered it.

In this disorder, children initially develop normally until the age of two to four at which time they begin to regress and lose skills formerly acquired. A child will demonstrate significant loss of language, motor and social skills. A previously toilet-trained child may even lose bowel and/or bladder control.

When symptoms are noted, it is important to seek medical attention. A complete medical history needs to be provided to the doctor, including the dates each developmental milestone was reached.

Although the cause of this disorder is not known, the doctor will perform a complete neurological exam including imaging tests and tests to measure the electrical activity of the brain. These tests will rule out other causes of the regression.

Genetic tests will be performed to determine if there is any condition the child may have inherited that is causing the symptoms. Other tests that will be performed include checking blood levels to rule out lead poisoning as well as hearing and vision tests. Behaviors will be evaluated to determine if there are abnormal reactions to certain stimuli.

All skills will be tested including motor, sensory and play skills. Cognitive skills will be tested as well as determination of what self-care skills the child can perform. Play with other children and interaction with adults will also be analyzed.


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