Metabolic screening and its impact in children with non-syndromic intellectual disability

Yasser F Ali,1 Salah EL-Morshedy,1 Riad M Elsayed,2 Amr M EL-sherbini,3 Saber AM El-Sayed,4 Nasser Ismail A Abdelrahman,1 Abdulbasit Abdulhalim Imam51Department of Pediatrics, Faculty of Medicine, Zagazig University, Zagazig, 2Pediatric Neurology Unit, Department of Pediatrics, Mansoura University,...

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Autores principales:	Ali YF, EL-Morshedy S, Elsayed RM, EL-sherbini AM, El-Sayed SAM, Abdrahman NIA, Imam AA
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2017
Materias:	Intellectual disability non-syndromic inborn errors of metabolism children. Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/d6311daa8102482ab9972059ae09b29f
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spelling	oai:doaj.org-article:d6311daa8102482ab9972059ae09b29f2021-12-02T01:47:38ZMetabolic screening and its impact in children with non-syndromic intellectual disability1178-2021https://doaj.org/article/d6311daa8102482ab9972059ae09b29f2017-04-01T00:00:00Zhttps://www.dovepress.com/metabolic-screening-and-its-impact-in-children-with-non-syndromic-inte-peer-reviewed-article-NDThttps://doaj.org/toc/1178-2021Yasser F Ali,1 Salah EL-Morshedy,1 Riad M Elsayed,2 Amr M EL-sherbini,3 Saber AM El-Sayed,4 Nasser Ismail A Abdelrahman,1 Abdulbasit Abdulhalim Imam51Department of Pediatrics, Faculty of Medicine, Zagazig University, Zagazig, 2Pediatric Neurology Unit, Department of Pediatrics, Mansoura University, Mansoura, 3Department of Psychiatry, Faculty of Medicine, El-Minia University, El-Minia, 4Department of Pediatrics, National Research Center, 5Department of Pediatrics, Al-Azhar Faculty of Medicine for Girls, Cairo, Egypt 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 lifeAli YFEL-Morshedy SElsayed RMEL-sherbini AMEl-Sayed SAMAbdrahman NIAImam AADove Medical PressarticleIntellectual disabilitynon-syndromicinborn errors of metabolismchildren.Neurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol Volume 13, Pp 1065-1070 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Intellectual disability non-syndromic inborn errors of metabolism children. Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	Intellectual disability non-syndromic inborn errors of metabolism children. Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Ali YF EL-Morshedy S Elsayed RM EL-sherbini AM El-Sayed SAM Abdrahman NIA Imam AA Metabolic screening and its impact in children with non-syndromic intellectual disability
description	Yasser F Ali,1 Salah EL-Morshedy,1 Riad M Elsayed,2 Amr M EL-sherbini,3 Saber AM El-Sayed,4 Nasser Ismail A Abdelrahman,1 Abdulbasit Abdulhalim Imam51Department of Pediatrics, Faculty of Medicine, Zagazig University, Zagazig, 2Pediatric Neurology Unit, Department of Pediatrics, Mansoura University, Mansoura, 3Department of Psychiatry, Faculty of Medicine, El-Minia University, El-Minia, 4Department of Pediatrics, National Research Center, 5Department of Pediatrics, Al-Azhar Faculty of Medicine for Girls, Cairo, Egypt 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
format	article
author	Ali YF EL-Morshedy S Elsayed RM EL-sherbini AM El-Sayed SAM Abdrahman NIA Imam AA
author_facet	Ali YF EL-Morshedy S Elsayed RM EL-sherbini AM El-Sayed SAM Abdrahman NIA Imam AA
author_sort	Ali YF
title	Metabolic screening and its impact in children with non-syndromic intellectual disability
title_short	Metabolic screening and its impact in children with non-syndromic intellectual disability
title_full	Metabolic screening and its impact in children with non-syndromic intellectual disability
title_fullStr	Metabolic screening and its impact in children with non-syndromic intellectual disability
title_full_unstemmed	Metabolic screening and its impact in children with non-syndromic intellectual disability
title_sort	metabolic screening and its impact in children with non-syndromic intellectual disability
publisher	Dove Medical Press
publishDate	2017
url	https://doaj.org/article/d6311daa8102482ab9972059ae09b29f
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Metabolic screening and its impact in children with non-syndromic intellectual disability

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