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Detection of inherited metabolic diseases in children with mental handicap

Chetna Bhatt1, Zarangis Misra, Neelam Goyel

  • 1Genetic Laboratory, Smt. M.T. Research Institute The Research Society, Sewri Hill, Mumbai, 400033 India.

Indian Journal of Clinical Biochemistry : IJCB
|October 30, 2012
PubMed

Insights

This study identified causes of developmental delay in 2000 children. Environmental factors (34.6%) and genetic factors (23.8%), including chromosomal abnormalities, were the primary causes of mental retardation.

Area of Science:

  • Pediatrics
  • Genetics
  • Developmental Biology

Background:

  • Mental retardation involves complex intrinsic and extrinsic factors affecting child development.
  • Developmental delay necessitates a multidisciplinary approach for accurate diagnosis.

Purpose of the Study:

  • To investigate the etiological factors contributing to mental retardation in a cohort of 2000 children with developmental delay.
  • To differentiate between genetic, environmental, and idiopathic causes of developmental delay.

Main Methods:

  • A multidisciplinary team (Pediatrician, Cytogeneticist, Biochemist, Psychologist, Therapists) evaluated 2000 cases.
  • Diagnostic categories included genetic, environmental, and idiopathic factors.
  • Specific genetic analyses focused on chromosomal abnormalities and Mendelian inheritance disorders.

Main Results:

  • A definitive diagnosis was achieved in 60% (1192) of cases.
  • Environmental factors accounted for 34.6% (692) of cases, while genetic factors were identified in 23.8% (477).
  • Chromosomal abnormalities were the most frequent genetic cause (17.75%), followed by Mendelian disorders (6.1%).

Conclusions:

  • Multidisciplinary assessment is crucial for diagnosing developmental delay.
  • Environmental and genetic factors, particularly chromosomal abnormalities, are significant contributors to mental retardation.
  • Early detection of inherited metabolic disorders like Mucopolysaccharidosis and amino acid abnormalities is vital.

Keywords:
Autosomal Recessive InheritanceGenetic CounsellingInborn Errors of MetabolismMental Retardation

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