Childhood disintegrative disorder.

We are presenting a case of a 10-year-old female child who presented with normal development till 5 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 (CDD), also known as Heller's syndrome and disintegrative psychosis, is a rare condition characterized by late onset (>3 years of age) of developmental delays in language, social function, and motor skills. Thomas Heller, an Austrian educator, first described childhood disintegrative disorder in 1908. It is a complex disorder that affects many different areas of the child's development. It is grouped with the pervasive developmental disorders (PDDs) and is related to the better known and more common disorder of autism.

Initially CDD was considered strictly a medical disorder and was believed to have identifiable medical causes. After researchers reviewed the reported cases of CDD; however, no specific medical or neurological cause was found to account for all occurrences of the disorder. For that reason, CDD was included in the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders, or DSM-IV,[1] in 1994.

The cause of childhood disintegrative disorder is unknown. Research findings suggest, however, that it may arise in the neurobiology of the brain. About half the children diagnosed with CDD have an abnormal electroencephalogram (EEG). EEGs measure the electrical activity in the brain generated by nerve transmission (brain waves). CDD is also sometimes associated with seizures[2] another indication that the neurobiology of the brain may be involved. Children with CDD have at least 2 years of normal development in all areas—language understanding, speech, skill in the use of large and small muscles, and social development. After this period of normal growth, the child begins to lose the skills he or she has acquired. This loss usually takes place between ages 3 and 4, but it can happen any time up to age ten.[3] The prevalence of CDD is 1 in 100,000 boys and ratio of boys to girls is estimated to be 8 boys to 1 girl. The following case is a female child diagnosed with CDD.

Case Report

A female child aged 10 years came with complaint of irritable behavior, and communication problem. The patient was absolutely normal till age of 5 years. The child is a product of consanguineous marriage wherein her father is her mother's maternal uncle. The child is born at full term normal vaginal delivery, no intranatal maternal infections, no complications after birth, the child attained age appropriate motor and language milestones till 5 years of age. The child was toilet trained and was able to control her bowels and bladder. The child also attended school wherein she learnt to recite poems and stories. She also used to take bath all by herself with soap and water under supervision.

At the age of 4 years the patient developed a severe attack of upper respiratory tract infection for which she suffered with fever and cough for 6 months and had pleural effusion for which the fluid is drained. The parents were instructed to use medications for 1 month with regular follow ups but they could not do so due to financial restraint. The patient from then on started to get severe attacks of fever and was only treated by an unqualified health worker. She stopped going to school and started to lose all the communicative milestones like talking sentences, calling her family members by name. She used to sit alone all day self-absorbed in play and showed increased anger and irritability, wherein she would hit or bite anyone who disturbed her. She stopped playing with her friends which she previously used to enjoy doing. She also stopped asking for food and would only cry if she is hungry. She also stopped taking personal hygiene and used to pick up bits of sticks and stones from floor and put in her mouth. She also did not sleep all night and used to cry for no apparent reason. She even lost the toilet training she acquired previously and started to pass stools and urine in clothes. With the above complaints the patient was brought to Mamata General Hospital to the Psychiatric OP. The patient was admitted in psychiatry ward all the investigations done like complete blood picture to rule out and blood dyscrasias, liver function tests for any metabolic abnormalities, blood urea and creatinine for renal abnormalities, urine test for sugar and proteinuria. All the investigations were normal. Computerized tomography of brain showed marked reduction of brain volume with less sulci and gyri and enlarged ventricles. IQ test revealed that the patient has an IQ of 37.5. The patient was started on resperidon 1 mg once a day and over the next 3 week she improved, the symptoms of anger and irritability have reduced and she also started to sleep normally. Her motor coordination improved, and she was able to feed herself which she previously was not able to. On subsequent follow-ups for the next 6 months child has shown improvement in communication in the form of naming objects and also her social interaction also improved wherein she started to play with other children at her home. She has been referred to a higher center wherein she is being given special training to improve her cognitive abilities. The child is scheduled for clinical interview for every 2 months with the above medication and training to assess the improvement. Till now 3 follow-up visits have take place and substantial improvement was found in above-mentioned areas.

Discussion

CDD is most commonly diagnosed when the parents of the affected child consult the pediatrician about the child's loss of previously acquired skills. The doctor will first give the child a medical examination to rule out any organic cause to explain the condition. Following the medical examinations and tests, the child will be referred to a psychiatrist who will then make the differential diagnosis of CDD. To be diagnosed with CDD, a child must show loss or regression in at least two of the areas listed below with an apparently normal development for at least first 2 years after birth. Usually regression occurs in more than two areas. These are

receptive language skills (language understanding)

expressive language skills (spoken language)

social skills or adaptive behaviors

play with peers

motor skills

bowel or bladder control, if previously established.

The child should have abnormal functioning in at least two of following:

Impaired nonverbalbehaviors, failure to develop peer relations with no social and emotional reciprocity

In ability to start and maintain conversations with other people etc.)

Restricted, repetitive and stereotyped behavior, such as bobbing the head up and down, or other repeated movements. These changes must not be caused by a general medical condition or another diagnosed mental disorder.

Treatment for CDD is very similar to treatment for autism. The emphasis falls on early and intense educational interventions. Most treatment is behavior-based and highly structured. Educating the parents is also emphasized in overall treatment plan. Speech and language therapy, occupational therapy, social skills development, and sensory integration therapy may all be used according to the needs of the individual child.

Currently, there are no pharmacological interventions that specifically target the core symptoms of PDD. However, studies have demonstrated that atypical antipsychotics and selective serotonin reuptake inhibitors may be beneficial for behavioral problems associated with PDD.[4] Two reports have been published about the use of atypical antipsychotics in children with PDD. In both studies, treatment with atypical anti psychotics led to significant improvements in aggressive, self-injurious, and disruptive behavior.[56] Many children with PDD have motor clumsiness in addition to social deficits. In this case study, motor coordination improved with social interaction after taking resperidon. Dopaminergic dysfunction has been reported to be associated with decreased motor coordination and given that A typical antipsychotics can be thought of as a dopamine system stabilizer, this may represent the mechanism of therapeutic action.[7] Atypical antipsychotics have also been reported to improve depression and anxiety and this therapeutic effect of is mediated by a potent partial agonistic effect at the 5HT1A receptor. Similar to their findings, the aggressive behavior was greatly reduced in this case after treatment. It should still be observed that this effect was lost and then reestablished with the discontinuation and reintroduction of this treatment respectively.