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Metabolic screening and its impact in children with nonsyndromic intellectual disability

Yasser F Ali1, Salah El-Morshedy1, Riad M Elsayed2

  • 1Department of Pediatrics, Faculty of Medicine, Zagazig University, Zagazig.

Neuropsychiatric Disease and Treatment
|May 2, 2017
PubMed

Insights

Routine metabolic screening in children with intellectual disability (ID) can identify treatable conditions. Early diagnosis through tests like the ferric chloride test aids in timely intervention, potentially improving outcomes and quality of life for affected children.

Area of Science:

  • Pediatric Neurology
  • Clinical Genetics
  • Metabolic Disorders

Background:

  • Intellectual disability (ID) affects a significant number of children, with nonsyndromic cases often presenting diagnostic challenges.
  • Identifying underlying metabolic causes is crucial for targeted interventions and improving patient outcomes.
  • Routine metabolic screening in this population is not consistently applied, necessitating an evaluation of its utility.

Purpose of the Study:

  • To assess the diagnostic value of routine metabolic screening tests in children with nonsyndromic intellectual disability.
  • To determine the impact of these tests on identifying treatable conditions and guiding interventions.
  • To evaluate the potential of metabolic screening to improve the quality of life for children with ID.

Main Methods:

  • A cross-sectional study involving 150 children with nonsyndromic ID and 50 healthy controls.
  • Comprehensive assessments included detailed history, family pedigree, clinical examination, and anthropometric measurements.
  • Urine metabolic screening utilized ferric chloride test, toluidine blue spot test, and gas chromatography-mass spectrometry.

Main Results:

  • Risk factors for ID included consanguineous marriage, advanced parental age, and family history of mental disabilities.
  • Metabolic screening revealed positive results in a notable percentage of patients: 35% for ferric chloride test and 9% for GC-MS.
  • Only 4.7% of patients tested positive for the toluidine blue spot test, indicating varying sensitivities of different screening methods.

Conclusions:

  • Metabolic screening tests are valuable in the diagnostic workup of children with nonsyndromic intellectual disability.
  • Positive screening results warrant further specific investigations to confirm diagnoses of treatable metabolic disorders.
  • Early identification of treatable conditions through metabolic testing can lead to timely interventions and improved patient management.
Abstract

Keywords:
inborn error of metabolismmentally retarded childrenquality of life

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