Abstract

We are presenting a case of a 13 years old child who presented with normal development till 3 years of age followed by deterioration in previously acquired language and social skills with stereotypic hand movements suggestive of Childhood Disintegrative Disorder. This case is reported as this condition is very rare.

Introduction

Childhood disintegrative disorder, first described by Theodore Heller, is a condition in which young children develop normally until age 3 or 4, but then demonstrate a severe loss of social, communication and other skills. It’s also called Heller’s syndrome, dementia infantilis, disintegrative psychosis and pervasive disintegrative disorder.1

It affects 1 in 100,000 children and more boys are affected than girls.2

Case Report

Master A, a 13 yr old boy hailing from UP, presented to our OPD with complaints of behavioural problems such as lack of social interaction, difficulty in learning and following instructions and repetitive movements of hands and deterioration in previously acquired language skills. On inquiry, it was found that he had a normal birth with apparently normal milestones and development till 3 years of age. He had learned to speak in sentences, identify several objects in his surroundings and play with other children in the neighbourhood. After 3 years of age his mother noticed gradual deterioration in his behaviour, he would play alone, keep making whining noises and doing repetitive movements of his hands. Also he would no longer converse with his family members, was disruptive in the house and required assistance in self care. This continued till he presented to us ten years later. On examination, he was observed to have hand stereotype, vocal tics, no eye contact with examiner, echolalia, and was unable to answer any question. His EEG was done which revealed bilateral neuronal hyperexcitability. His IQ was found to be 40-45 suggestive of moderate mental retardation.In view of the EEG abnormalities and behavioural disturbances, patient was started on T. Carbamazepine 200 mg/day in divided doses. On follow up a month later behavioural symptoms had improved. We plan to increase dose of Carbamazepine along with behaviour therapy to help learn language, social and self-care skills.

Discussion

There’s no known cause of childhood disintegrative disorder. The disorder may occur abruptly over the course of days to weeks or gradually over an extended period of time.3 The diagnostic criteria include normal development for atleast the first two years after birth as manifested by the presence of age appropriate verbal and non-verbal communication, social relationships, play and adaptive behaviour. Later there is significant loss of previously acquired skills before age 10, in atleast two of the following areas:

• Expressive or receptive language
• Social skills or adaptive behaviour
• Bowel and bladder control
• Play
• Motor skills

Along with abnormalities of functioning in at least two of the following areas (a) qualitative impairment in social interaction (b) qualitative impairment in communication (c) restricted, repetitive, and stereotyped patterns of behaviour, interests and activities, including motor stereotypies and mannerisms.3 In this case, the patient’s development was normal till 3 years of age and later he showed deterioration in skills acquired in following areas - language, social and self care and play with motor stereotypies and hence a diagnosis of Childhood Disintegrative Disorder was made. The outcome and prognosis is worse than children with Autism.4

References

*Registrar; **Lecturer; ***Asso. Professor; ****Professor and Head, Department of Psychiatry, K. J. Somaiya Hospital and Research Centre.