Metabolic screening and its impact in children with non-syndromic intellectual disability
| Autor: | Abdulbasit Abdulhalim Imam, Riad M Elsayed, Salah El-Morshedy, Amr M. El-Sherbini, Saber A. M. El-Sayed, Yasser F Ali, Nasser Ismail A Abdelrahman |
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| Rok vydání: | 2017 |
| Předmět: |
Pediatrics
medicine.medical_specialty Neuropsychiatric Disease and Treatment Neonatal intensive care unit medicine.diagnostic_test business.industry Psychiatric assessment mentally retarded children Physical examination Anthropometry medicine.disease 03 medical and health sciences 0302 clinical medicine quality of life Quality of life 030225 pediatrics Intellectual disability inborn error of metabolism medicine Medical history 030212 general & internal medicine Family history business Original Research |
| Zdroj: | Neuropsychiatric Disease and Treatment |
| ISSN: | 1178-2021 |
| Popis: | 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 5–17years 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 |
| Databáze: | OpenAIRE |
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