Objective: The objective of this study was to analyze the value of routine metabolic screening tests in children with an intellectual disability (ID) and its impact on improving their outcome and quality of life through appropriate intervention and treatment.
Patients and methods: This cross-sectional study was conducted in the Pediatric Neurology Clinic, Al Khafji Joint Operations Hospital, Kingdom of Saudi Arabia. A total of 150 children with nonsyndromic ID (66% males) in the age range of 5-17 years were compared with 50 apparently healthy age- and sex-matched controls. All studied groups were subjected to detailed history taking, family pedigree, thorough clinical examination, anthropometric measurements, routine laboratory investigations and urine metabolic screening tests (ferric chloride test and toluidine blue spot test and gas chromatography-mass spectrometry). Electroencephalography, IQ, psychiatric assessment and chromosomal study were done for the patient group only.
Results: Positive consanguineous marriage, older maternal or paternal age and family history of mental disabilities in other siblings were considered as risk factors for the development of mental disabilities. History of admission to neonatal intensive care unit was significantly higher among the patient group than among the controls (P<0.05). Metabolic screening tests showed that up to 35% of patients were positive for ferric chloride test, 9% of patients were positive for gas chromatography-mass spectrometry, and only 7 out of 150 (4.7%) patients were toluidine blue test positive.
Conclusion: Metabolic testing should be considered in the workup of individuals with nonsyndromic ID, which will need further specific investigations to confirm the diagnosis and determine the possible treatable cases.
Keywords: inborn error of metabolism; mentally retarded children; quality of life.