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[Mental retardation in childhood. The prevalence of informative morphogenetic variants]

Györgyi Csábi1, Pálma Aradi, Katalin Hollódy

  • 1Pécsi Tudományegyetem, Gyermekgyógyászati Klinika, Pécs.

Neuropsychopharmacologia Hungarica : a Magyar Pszichofarmakologiai Egyesulet Lapja = Official Journal of the Hungarian Association of Psychopharmacology
|May 31, 2008
PubMed

Insights

This study identified common physical differences in hospitalized children with intellectual disability. Ear abnormalities and head size variations were most frequent, highlighting their diagnostic importance.

Area of Science:

  • Genetics
  • Pediatrics
  • Clinical Dysmorphology

Context:

  • Investigating the clinical and epidemiological profiles of hospitalized children with intellectual disability.
  • Retrospective analysis over a 4-year period.
  • Focus on dysmorphic features in pediatric populations.

Purpose:

  • To determine the prevalence of informative morphogenetic variants in children with intellectual disability.
  • To analyze clinical, epidemiological, and dysmorphic data.
  • To assess the diagnostic value of minor malformations and phenogenetic variants.

Summary:

  • Ear abnormalities and abnormal head circumference were the most common dysmorphic signs in mentally retarded children.
  • Descriptive analysis of 135 hospitalized children.
  • Identified specific physical variants associated with intellectual disability.

Impact:

  • Highlights the significance of specific dysmorphic features in diagnosing intellectual disability.
  • Emphasizes the predictive-diagnostic value of minor malformations and phenogenetic variants.
  • Informs clinical assessment and genetic counseling for affected children.

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