Asfia Khaleel,Firoz. K,Manoj Kumar,Rajmohan V.,Raguram T. M.
Abstract
Childhood disintegrative disorder (CDD), also known as Heller’s syndrome or disintegrative psychosis, is a rare condition characterized by marked regression in multiple areas of development after several years of normal development. Estimated prevalence of childhood disintegrative disorder is around 0.11 to 0.64 per 10,000 children. The present report describes the case of an eight year old boy who developed childhood disintegrative disorder after approximately three years of normal development. No neurological abnormalities were found on EEG and MRI. This case is reported as this condition is very rare and no reports from our state have been published.
Keywords: Childhood disintegrative disorder, disintegrative psychosis, Heller’s syndrome Introduction
Childhood disintegrative disorder (CDD), also known as Heller’s syndrome or disintegrative psychosis, is a rare condition characterized by marked regression in multiple areas of development after several years of normal development. It was first described by an Austrian educator, Theodore Heller, in 1908. Estimated prevalence of childhood disintegrative disorder is around 0.11 to 0.64 per 10,000 children and only about 100 cases have been reported as the condition is under-diagnosed. Although gender distribution of the disorder is not exactly known, male seems to outnumber female cases with a ratio of 8:1. The prognosis is usually very poor and most individuals are left with severe developmental delay especially in language and social skills.2 The present report describes the case of an eight year old boy who developed childhood disintegrative disorder after approximately three years of normal development. This is probably the first case of CDD to be published from our state.
Case Report
A male child aged 8 years came with complaint of regression of milestones. The patient was absolutely normal till age of 3 years. The child was a product of nonconsanguinous marriage and was born at full term normal vaginal delivery. There were no perinatal maternal infections or complications after birth and he was immunized up to age. The child attained age appropriate motor and language milestones till 3 years of age. The child was toilet trained and was able to control his bowels and bladder. He also attended playschool wherein he learnt to recite poems and stories, could scribble and draw lines. He interacted well with family members and liked playing with other children. At around 3 years of age, he started having regression in communications. His had prominent echolalia and later his sentences become progressively shorter, it was followed by lack of interest in conversation. He started sitting alone all day self-absorbed in play and showed increased anger and irritability. He stopped playing with his friends and did not take part in school activities so family members stopped sending him to school. He would ride the bicycle in circles and would run up and down the house or in circles incessantly.
Soon he stopped calling family members by names, words became fewer and infrequent and would express only basic needs like hunger and thirst verbally. He did not make eye contact and did not show emotions when hugged or patted. He stopped talking completely and would take his mother’s hand to show what he needs. Currently he has stopped asking for food and cries if he is hungry, he does not interact even with his parents, is unable to dress, undress or feed himself, has stopped writing or coloring, resists any attempt at making him do it and his speech has regressed to babbling. He responds to call and follows instructions. There is no regression of gross motor milestones and bowel and bladder control are maintained. He is attending special school.
There was no history suggestive of ADHD (attention deficit hyperactivity disorder), MR (mental retardation), seizure disorder, psychosis, exanthematous fever or any medical illnesses. On physical examination, he had attained age-appropriate i ate ph y s i cal development, there were no anomalies and all other systems were within normal limits. On MSE, child did not make eye contact. He was making babbling sounds and was expressing his needs by crying. Did not show any interest in their surroundings but were able to comprehend and could obey commands. At lunch time started getting irritable and was assaultive towards their parents.
Routine investigations like complete blood count, liver function test, renal function test, EEG (Electroencephalogram) and MRI (Magnetic Resonance Imaging) were done. All the investigations were normal. Hence we planned to do IQ (Intelligence Quotient) assessment and CARS (Childhood Autism Rating Scale) on follow up and get Metabolic s c r e e n i n g l i k e T M S ( T a n d e m M a s s Spectroscopy), and BERA (Brainstem Evoked Response Audiometry) done, for which he was referred to a higher centre. Parents were psycho educated about the illness. Speech and language therapy, social skills training and special schooling were advised.
Discussion
CDD was included in the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders, or DSM-IV; however the condition currently falls under the larger rubric of autism spectrum disorders in DSM-5. The cause of childhood disintegrative disorder is unknown. The prevalence of epilepsy is markedly increased in CDD but its role in the pathophysiology of CDD is not known. The present case had no history of seizure and EEG showed no epileptiform activity. It is suggested that CDD and autism may share a common genetic mechanism. Predisposing genetic factors which, when combined with an environmental stress, may activate the production of abnormal protein and result in the deposition of amyloid and cause the disruption of synaptic transmission during the deterioration period. Immunopathogenic processes may be a promising target for future research. The case reported has no family history of pervasive development disorder, and no discernible environmental stressors were present. 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, bowel and bladder control 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 10. In this case the decline occurred after 3 years of normal development, which is in keeping with the age range of CDD. To be diagnosed with CDD, a child must show loss or regression in at least two developmental areas with an apparently normal development for at least first 2 years after birth. Usually regression occurs in more than two areas. The areas affected are receptive language skills, expressive language skills, social skills or adaptive behaviors; play with peers, motor skills, and bowel or bladder control, if previously established. The child in our report had definite regression in expressive and receptive language, loss of social and adaptive skill, and play skills. However his motor skills, bowel and bladder control were normal. The child should have abnormal functioning in at least two of following: impaired nonverbal behaviors, failure to develop peer relations with no social and emotional reciprocity, inability to start and maintain conversations with other people and restricted, repetitive and stereotyped behavior. These changes must not be caused by a general medical condition or another diagnosed mental disorder. This child also had impaired peer relation, lack of social reciprocity, and occasional stereotyped behaviors. Hence the diagnosis of CDD was made. Treatment for CDD is very similar to treatment for autism. Currently, there are no pharmacological interventions that specifically target the core symptoms of PDD. 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.3 The early identification of CDD and targeted interventions will help to improve the functional status of the child and allay parental anxiety to a certain extent.
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