RESUMO
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.
Assuntos
Feminino , Proteína do X Frágil da Deficiência Intelectual , Síndrome do Cromossomo X Frágil/genética , Humanos , Índia , Masculino , Proteínas do Tecido Nervoso/genética , Polimorfismo Genético , Proteínas de Ligação a RNA , Repetições de TrinucleotídeosRESUMO
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.
Assuntos
Paralisia Cerebral/epidemiologia , Anormalidades Congênitas/epidemiologia , Consanguinidade , Feminino , Seguimentos , Transtornos da Audição/epidemiologia , Humanos , Índia/epidemiologia , Lactente , Masculino , Deficiência Intelectual/epidemiologia , Paridade , Aceitação pelo Paciente de Cuidados de Saúde , Cooperação do Paciente , Sistema de Registros , Convulsões/epidemiologia , Fatores Sexuais , Classe Social , Transtornos da Visão/epidemiologiaRESUMO
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.