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Biochemical screening of intellectually disabled and healthy children in Punjab, Pakistan: differences in liver

Muhammad Wasim1,2, Haq Nawaz Khan1,2, Hina Ayesha3

  • 1Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.

International Journal of Developmental Disabilities
|June 18, 2021
PubMed

Insights

Biochemical markers like liver enzymes and lipid profiles may help screen for inborn errors of metabolism (IEMs) in children with intellectual disability. Early detection of these treatable genetic disorders is crucial.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Inborn errors of metabolism (IEMs) are rare genetic disorders, often untreatable.
  • Early diagnosis of some IEMs causing intellectual disability can lead to treatable interventions.
  • Identifying reliable screening markers for IEMs in intellectually disabled children is essential.

Purpose of the Study:

  • To investigate the association between specific biochemical parameters and intellectual disability in children suspected of IEMs.
  • To evaluate the potential of these biochemical markers for preliminary screening of IEMs.
  • To compare biochemical profiles of intellectually disabled children with healthy controls.

Main Methods:

  • A comparative cross-sectional observational study involving 800 children (4-24 years old).
  • Participants included 391 healthy children (IQ >90) and 409 intellectually disabled children (IQ <70) with unknown causes.
  • Analysis of serum biochemical parameters including liver enzymes, kidney enzymes, albumin, uric acid, cholesterol, triglycerides, and hemoglobin using commercial kits.

Main Results:

  • Significant differences were observed in ALP, ASAT, ALAT, albumin, uric acid, cholesterol, triglycerides, and hemoglobin levels between healthy and intellectually disabled children.
  • Specific p-values indicate high statistical significance for most tested parameters (e.g., ALP p<0.00001, cholesterol p<0.001).
  • These findings suggest a strong correlation between altered biochemical profiles and intellectual disability in the study cohort.

Conclusions:

  • Liver function tests and lipid profile parameters show significant alterations in children with intellectual disability.
  • These biochemical changes may serve as preliminary indicators for IEMs.
  • Further detailed investigations are required for comprehensive characterization and diagnosis of IEMs.

Keywords:
Intellectual disability (ID)hyperlipidemiainborn errors of metabolisms (IEMs)liver function testnewborn screening (NBS)

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