Neurocutaneous melanosis associated with Dandy-Walker syndrome.

A young boy presented with mental retardation and seizures with extensive hairy naevi. After a fluctuating clinical course over the next 2 years, he worsened rapidly with signs of rising intracranial pressure. A CT scan revealed unsuspected features of Dandy-Walker syndrome. The clinical course is traced till the patient's death, and the implications of the coexistence of these rare conditions are discussed in view of the proposed hypotheses regarding the pathogenesis of Dandy-Walker syndrome.

Triplet repeat polymorphism & fragile X syndrome in the Indian context.

Mental retardation due to fragile X syndrome is one of the genetic disorders caused by triplet repeat expansion. CGG repeat involved in this disease is known to exhibit polymorphism even among normal individuals. Here we describe the development of suitable probes for detection of polymorphism in CGG repeat at FMR1 locus as well as the diagnosis of fragile X syndrome. Using these methods polymorphism at the FMR1 locus has been examined in 161 individuals. Ninety eight patients with unclassified mental retardation were examined, of whom 7 were found to have the expanded (CGG) allele at the FMR1 locus. The hybridization pattern for two patients has been presented as representative data.

A clinical study of infants presenting to a mental retardation clinic.

Early detection has a central role in the prevention and management of mental retardation. The purpose of this present study is to delinerate the characteristics of developmentally delayed infants and their families attending Mental Retardation Clinic. The sample consisted of 101 infants who were registered in Mental Retardation Clinic of NIMHANS, Bangalore in 1988 constituting 12.5% of total registrations. Data was collected from case records. Majority of subjects were males, first or second born, 7 months or older, from a consanguineous lower or middle class family. Along with developmental delay, 60% had other complaints. Medical problems were reported in about half of the subjects and most had abnormalities on physical examination. Aetiology was discernible in 77.1%. Majority had associated physical disorder such as cerebral palsy, seizures and hearing and/or visual impairment. Around 17% came for follow-up thrice or more, 43% dropped out after work-up. The main conclusions are that; (i) certain socio-demographic, personal and clinical variables influence treatment seeking, and (ii) developmental delay recognised in infancy tends to be associated with clear aetiologic factors and significant medical/neurologic problems.

A screening tool for assessment of the home environment and psychosocial development of preschool children.

The purpose of this study was to develop a short tool for the assessment of home environment and psychosocial development of preschool children, based on the data collected on a sample of one hundred and fifty children in the age range of 2 years 10 months to 3 years 8 months. Co-relation analysis was used in identifying home environment and psychosocial development variables for the development of the tool.

Comparative study of classification of psychosis of childhood and adolescent onset.

Classification of psychosis in childhood and adolescence has always been controversial due to the possible developmental modulation of symptom expression. Major classificatory systems have no special criteria for children, and recommend the use of adult criteria. Hence, this study aimed to study the nosology of psychosis of childhood and adolescence, using adult criteria (ICD-9, ICD-10 and DSM-III-R). Fifty subjects between the age of 5 and 16 years who met the ICD-9 definition of psychosis were studied using the Intake Sheet for Adolescents: cross-cultural study and the Interview Schedule for Children and Adolescents. Most of the subjects could be classified into one of the major functional psychosis categories, indicating the applicability of adult criteria in children and adolescents.

A prospective study of bipolar disorder in children and adolescents from India.

Bipolar disorder in adults is known to run an episodic course. However, little information exists on the long-term naturalistic course of bipolar disorder in juvenile populations. The present study was undertaken with the objectives of (i) documenting the rates of recovery and relapse, (ii) identifying the predictors of recovery and relapse and (iii) assessing the rates of comorbid conditions. A total of 30 subjects with onset of bipolar illness (according to DSM-III-R criteria) in childhood and adolescence were assessed systematically at baseline and 4 to 5 years later. All 30 subjects (100%) had recovered from their index episodes and none had exhibited chronicity. Twenty of the 30 subjects (67%) had relapsed, with most relapses occurring within 2 years of recovery from index episodes. No predictors of recovery and relapse could be identified. Conduct disorder was the only comorbid diagnosis in two subjects (7%). The main implication of our study, in view of the high rates of relapse in the crucial developmental phase of a young individual, is that long-term maintenance medication should be considered in juvenile bipolar patients, even if it is a first episode.

Brief in-patient family intervention in mental retardation.

A novel programme of intervention - brief inpatient family intervention - was formulated to impart the training skills to the parents of mentally retarded children to optimise the development of their retarded child. During the period of this study. 106 mentally retarded children with different socio-demographic backgrounds and degrees of handicap participated in this programme, with encouraging results. The individualised management plan, spread over 2 weeks of inpatient stay, included intensive counselling, training of the parents in techniques of multisensory stimulation, speech, motor, and self-help skills training, behaviour modification and medical management, as required. The programme could serve as a suitable model for professionals working with the mentally retarded, to implement with limited resources.

A family study of juvenile obsessive-compulsive disorder.

OBJECTIVES: To determine whether juvenile obsessive-compulsive disorder (OCD) is familial and whether the rate of Tourette syndrome (TS) and tic disorders is higher among relatives of patients with OCD than among relatives of controls subjects. METHOD: We assessed first-degree relatives of 35 juvenile OCD probands (aged 16 years or less) and 34 matched, psychiatrically unaffected control subjects, using the Diagnostic Interview for Children and Adolescents-Revised (DICA-R) (unpublished), a Questionnaire for tic disorders, the Children's Version of Leyton's Obsessional Inventory (CV-LOI), and the Children's Version of the Yale-Brown Obsessive Compulsive Scale (CY-BOCS). Similarly, we assessed adult relatives, using the Schedule for Clinical Assessment in Neuropsychiatry (SCAN), Leyton's Obsessional Inventory (LOI), the Yale-Brown Obsessive Compulsive Scale (Y-BOCS), and a Questionnaire for tic disorders. The diagnoses were determined by consensus, using DSM-III-R criteria. We calculated age-corrected morbid risk, using Weinberg's method. RESULTS: The morbid risk for OCD among the relatives of OCD probands was 4.96%, while none of the relatives of unaffected control subjects had OCD. We did not diagnose TS in any of the relatives of either OCD probands or control subjects. We diagnosed chronic motor tic disorders in only 1 of the relatives of OCD probands, while none of the relatives of control subjects had any tic disorder. CONCLUSION: Most juvenile cases of OCD are nonfamilial and unrelated to tic disorders, while only a few are familial. There is a need to re-examine the issue of familiality in cases of OCD, as well as its relation to TS, using larger community samples to better understand the hypotheses of familial transmission and comorbidity with tic disorders.

The etiologic patterns in microcephaly with mental retardation.

Microcephaly with mental retardation forms a distinct subgroup among mentally retarded individuals. The paucity of studies on the etiology of this condition in India made the investigators to study this population. It HTO aimed to study the demographic and clinical characteristics, and the etiologic pattern in children with microcepltaly and mental retardation The sample consisted of 82 children who were examined by detailed clinical assessment and a battery of investigations. A definite etiology could be found in 56% of children which have been grouped into prenatal embryonic, prenatal maternal/environmental, and birth and neonatal causes. Non-genetic causes were the most common. The prenatal etiology constituted nearly twice that of birth and neonatal causes. Majority of the etiologic factors were preventable. The role of socio-environmental factors has been discussed As a group, the neurological disorders were found to be the most commonly associated medical condition. Malnutrition, specially of severe degree, was significantly associated with this group compared to the general population. The study findings indicate that there is a significant place for prevention.