Attya Bhatti, Ghazala Ashfaq.
Frequency of chromosomal anomalies in mentally handicapped children.
Pak J Med Res Jan ;47(1):1-6.

Aims: To assess the demographic pattern, karyotype and other systemic anomalies in children with mental retardation (MR) and correlate them with socioeconomic status, consanguinity and maternal education. Study Design and duration: A cross sectional descriptive study of one year (Nov 2006- Nov 2007). Settings: Children with mental retardation were selected from the schools of Special Education, Nasheman Institute of Handicapped Children, Schools of Special education, Chambeli Institute of Mentally retarded children. Methods: The study included 100 children with various phenotypic abnormalities suggestive of a mental retardation or congenital malformations. All cases were subjected to physical examination and family history was taken on specially designed Performa. Informed Consent was obtained from parents and Principal of schools. Chromosomal analysis was performed by lymphocyte culture from peripheral blood followed by Karyotype and G-banding. Results: One hundred cases aged 4-16 years were selected; of which 61% were males and 39% females. Low socioeconomic status (80%), lack of maternal education (46%) and consanguinity (61%) were strongly associated with retardation. Other independent factors included history of perinatal difficulties (46%), prenatal infections (49%), natal (04%) and postnatal infections (17%) and current malnourishment. Of those remaining, prenatal factors (49%) were implicated about twice as often as natal or postnatal factors. The etiology in 30% cases was unknown. About 40% mothers were between 26-32 years of age, 15% were older than 35 years of age, while remaining 24% were less than 25 years of age at the time of birth of the affected child. The karyotype analysis showed Down syndrome in 41% and Turner syndrome in 1%. Out of the total 41% cases had trisomy 21, while others were normal (59%). Conclusions: The identification of specific types of chromosomal abnormalities in mentally retarded children is important as it enables clinicians to counsel the parents regarding recurrence risk and available options.

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