Clinical and neuropsychological outcomes for children with phenylketonuria in Upper Egypt; a single-center study over 5 years

Abdelrahim A Sadek,1 Mohammed H Hassan,2 Nesreen A Mohammed3 1Department of Pediatrics, Pediatric Neurology and Psychiatry Unit, Faculty of Medicine, Sohag University, Sohag, Egypt; 2Medical Biochemistry Department, Faculty of Medicine, South Valley University, Qena, Egypt; 3Public Health and Commu...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Sadek AA, Hassan MH, Mohammed NA
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2018
Materias:	Phenylketonuria IQ Autism CARS ADHD Upper Egypt. Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/db3e558bf2a94573ae3a077e369b6ee3
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:db3e558bf2a94573ae3a077e369b6ee3
record_format	dspace
spelling	oai:doaj.org-article:db3e558bf2a94573ae3a077e369b6ee32021-12-02T06:44:15ZClinical and neuropsychological outcomes for children with phenylketonuria in Upper Egypt; a single-center study over 5 years1178-2021https://doaj.org/article/db3e558bf2a94573ae3a077e369b6ee32018-10-01T00:00:00Zhttps://www.dovepress.com/clinical-and-neuropsychological-outcomes-for-children-with-phenylketon-peer-reviewed-article-NDThttps://doaj.org/toc/1178-2021Abdelrahim A Sadek,1 Mohammed H Hassan,2 Nesreen A Mohammed3 1Department of Pediatrics, Pediatric Neurology and Psychiatry Unit, Faculty of Medicine, Sohag University, Sohag, Egypt; 2Medical Biochemistry Department, Faculty of Medicine, South Valley University, Qena, Egypt; 3Public Health and Community Medicine Department, Faculty of Medicine, Sohag University, Sohag, Egypt Background: Phenylketonuria (PKU) is considered to be a rare inborn error of metabolism but one of the commonest causes of mental retardation if untreated.Objectives: The present study was done to characterize the clinical patterns of PKU and analyze various neuropsychiatric outcomes in PKU children in Sohag Province, Egypt.Patients and methods: A prospective cohort study was conducted on 113 PKU patients, diagnosed during the period from 2012 to 2017, at the Pediatric Neurology Clinic of Sohag University Hospital, Upper Egypt. One hundred and ten cases were diagnosed based on clinical suspicion combined with laboratory confirmation by measuring their plasma phenylalanine levels using amino acid analyzer, while 3 cases were detected during neonatal screening. With the exception of the 3 cases detected during neonatal screening, all patients were clinically diagnosed and treated late. Psychometric evaluations of PKU patients were done using intelligence quotient (IQ, Stanford–Binet V), Childhood Autism Rating Scale, and Children’s Attention and Adjustment Survey. Dietetic management was applied. The results of neuroimaging (computed tomography or magnetic resonance imaging of the brain) and electroencephalography were included when available.Results: The overall results showed that 15.9% had hyperphenylalaninemia, 35.4% had mild to moderate PKU, and classic PKU was diagnosed in 48.7%. Global developmental delay (54.9%) and delayed language (29.2%) were the most frequent presentations. Moderately impaired or delayed overall IQ was present in 77%. While, 83.2% had moderately impaired or delayed verbal IQ, autism was diagnosed in 50.4%. Super average and average probability of attention-deficit hyperactivity disorder was diagnosed in 88.5%. Abnormal neuroimaging (white matter abnormalities and brain atrophy) was the most important significant predictor for poor language and motor developmental outcome (P<0.05).Conclusion: PKU children had variable neuropsychological outcomes, mainly attention-deficit hyperactivity disorder and impaired verbal IQ, both of which were not related to the initial phenylalanine levels or to duration of dietary therapy, but were significantly related to early dietary intervention. Keywords: phenylketonuria, IQ, autism, CARS, ADHD, Upper EgyptSadek AAHassan MHMohammed NADove Medical PressarticlePhenylketonuriaIQAutismCARSADHDUpper Egypt.Neurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol Volume 14, Pp 2551-2561 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Phenylketonuria IQ Autism CARS ADHD Upper Egypt. Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	Phenylketonuria IQ Autism CARS ADHD Upper Egypt. Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Sadek AA Hassan MH Mohammed NA Clinical and neuropsychological outcomes for children with phenylketonuria in Upper Egypt; a single-center study over 5 years
description	Abdelrahim A Sadek,1 Mohammed H Hassan,2 Nesreen A Mohammed3 1Department of Pediatrics, Pediatric Neurology and Psychiatry Unit, Faculty of Medicine, Sohag University, Sohag, Egypt; 2Medical Biochemistry Department, Faculty of Medicine, South Valley University, Qena, Egypt; 3Public Health and Community Medicine Department, Faculty of Medicine, Sohag University, Sohag, Egypt Background: Phenylketonuria (PKU) is considered to be a rare inborn error of metabolism but one of the commonest causes of mental retardation if untreated.Objectives: The present study was done to characterize the clinical patterns of PKU and analyze various neuropsychiatric outcomes in PKU children in Sohag Province, Egypt.Patients and methods: A prospective cohort study was conducted on 113 PKU patients, diagnosed during the period from 2012 to 2017, at the Pediatric Neurology Clinic of Sohag University Hospital, Upper Egypt. One hundred and ten cases were diagnosed based on clinical suspicion combined with laboratory confirmation by measuring their plasma phenylalanine levels using amino acid analyzer, while 3 cases were detected during neonatal screening. With the exception of the 3 cases detected during neonatal screening, all patients were clinically diagnosed and treated late. Psychometric evaluations of PKU patients were done using intelligence quotient (IQ, Stanford–Binet V), Childhood Autism Rating Scale, and Children’s Attention and Adjustment Survey. Dietetic management was applied. The results of neuroimaging (computed tomography or magnetic resonance imaging of the brain) and electroencephalography were included when available.Results: The overall results showed that 15.9% had hyperphenylalaninemia, 35.4% had mild to moderate PKU, and classic PKU was diagnosed in 48.7%. Global developmental delay (54.9%) and delayed language (29.2%) were the most frequent presentations. Moderately impaired or delayed overall IQ was present in 77%. While, 83.2% had moderately impaired or delayed verbal IQ, autism was diagnosed in 50.4%. Super average and average probability of attention-deficit hyperactivity disorder was diagnosed in 88.5%. Abnormal neuroimaging (white matter abnormalities and brain atrophy) was the most important significant predictor for poor language and motor developmental outcome (P<0.05).Conclusion: PKU children had variable neuropsychological outcomes, mainly attention-deficit hyperactivity disorder and impaired verbal IQ, both of which were not related to the initial phenylalanine levels or to duration of dietary therapy, but were significantly related to early dietary intervention. Keywords: phenylketonuria, IQ, autism, CARS, ADHD, Upper Egypt
format	article
author	Sadek AA Hassan MH Mohammed NA
author_facet	Sadek AA Hassan MH Mohammed NA
author_sort	Sadek AA
title	Clinical and neuropsychological outcomes for children with phenylketonuria in Upper Egypt; a single-center study over 5 years
title_short	Clinical and neuropsychological outcomes for children with phenylketonuria in Upper Egypt; a single-center study over 5 years
title_full	Clinical and neuropsychological outcomes for children with phenylketonuria in Upper Egypt; a single-center study over 5 years
title_fullStr	Clinical and neuropsychological outcomes for children with phenylketonuria in Upper Egypt; a single-center study over 5 years
title_full_unstemmed	Clinical and neuropsychological outcomes for children with phenylketonuria in Upper Egypt; a single-center study over 5 years
title_sort	clinical and neuropsychological outcomes for children with phenylketonuria in upper egypt; a single-center study over 5 years
publisher	Dove Medical Press
publishDate	2018
url	https://doaj.org/article/db3e558bf2a94573ae3a077e369b6ee3
work_keys_str_mv	AT sadekaa clinicalandneuropsychologicaloutcomesforchildrenwithphenylketonuriainupperegyptasinglecenterstudyover5years AT hassanmh clinicalandneuropsychologicaloutcomesforchildrenwithphenylketonuriainupperegyptasinglecenterstudyover5years AT mohammedna clinicalandneuropsychologicaloutcomesforchildrenwithphenylketonuriainupperegyptasinglecenterstudyover5years
_version_	1718399784084045824

Clinical and neuropsychological outcomes for children with phenylketonuria in Upper Egypt; a single-center study over 5 years

Ejemplares similares