CLINICO-RADIOLOGICAL FINDINGS AND GENETIC ANALYSIS OF CHILDREN WITH HEREDITARY NEUROLOGICAL DISORDERS

Objective: To determine the clinical profile, radiological findings and genetic analysis of children with inherited neurological disorders. Study Design: Cross sectional study. Duration and Place of Study: Department of Neurology, The Children’s Hospital Lahore, from March 2013 to September 20...

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Autores principales:	Ahmad Omair Virk, Faisal Zafar, Tipu Sultan
Formato:	article
Lenguaje:	EN
Publicado:	Army Medical College Rawalpindi 2019
Materias:	whole exome sequencing neuroimaging seizures intellectual disability Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/0502adf2e4404b74a36015f09a5c079e
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spelling	oai:doaj.org-article:0502adf2e4404b74a36015f09a5c079e2021-11-12T06:48:30ZCLINICO-RADIOLOGICAL FINDINGS AND GENETIC ANALYSIS OF CHILDREN WITH HEREDITARY NEUROLOGICAL DISORDERS0030-96482411-8842https://doaj.org/article/0502adf2e4404b74a36015f09a5c079e2019-04-01T00:00:00Zhttps://www.pafmj.org/index.php/PAFMJ/article/view/2748/2153https://doaj.org/toc/0030-9648https://doaj.org/toc/2411-8842Objective: To determine the clinical profile, radiological findings and genetic analysis of children with inherited neurological disorders. Study Design: Cross sectional study. Duration and Place of Study: Department of Neurology, The Children’s Hospital Lahore, from March 2013 to September 2016. Material and Methods: Ninety two patients upto 20 years of age were selected. Blood sample was taken from patients and both parents. Samples were tested for whole exome sequencing Results: There were 51% males. Age ranged from 5 months to 20 years. A total of 55.4% patients had developmental delay and 44.5% had neuroregression. Hearing impairment was found in 7.6% patients while vision was affected in 11.9%. Speech was affected in 66.3% patients while 43.4% patients had seizures. Autistic spectrum of disorders were observed in 20.6% patients. Microcephaly was seen in 19.5% cases. Out of 60 families, 23 (38.3%) had more than one offspring affected. Upper motor neuron signs were present in 50% patients while 15.2% patients had lower motor neuron signs. Leukodystrophy was seen in 19.5% patients. Cerebellar atrophy was observed in 15.2% patients while 17.3% patients had cerebral atrophy. Neuroimaging was normal in 34 patients. On genetic analysis, 48.3% families had known gene mutation while 51.6% families had novel gene mutation. Conclusion: Degenerative brain disorder (DBD) and Global developmental delay/intellectual disability (GDD/ ID) are entities with diverse clinical presentations. Whole exome sequencing is a helpful diagnostic tool. In addition to previously discovered genes, many novel genes have been identified.Ahmad Omair VirkFaisal ZafarTipu SultanArmy Medical College Rawalpindiarticlewhole exome sequencingneuroimagingseizuresintellectual disabilityMedicineRMedicine (General)R5-920ENPakistan Armed Forces Medical Journal, Vol 69, Iss 2, Pp 326-331 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	whole exome sequencing neuroimaging seizures intellectual disability Medicine R Medicine (General) R5-920
spellingShingle	whole exome sequencing neuroimaging seizures intellectual disability Medicine R Medicine (General) R5-920 Ahmad Omair Virk Faisal Zafar Tipu Sultan CLINICO-RADIOLOGICAL FINDINGS AND GENETIC ANALYSIS OF CHILDREN WITH HEREDITARY NEUROLOGICAL DISORDERS
description	Objective: To determine the clinical profile, radiological findings and genetic analysis of children with inherited neurological disorders. Study Design: Cross sectional study. Duration and Place of Study: Department of Neurology, The Children’s Hospital Lahore, from March 2013 to September 2016. Material and Methods: Ninety two patients upto 20 years of age were selected. Blood sample was taken from patients and both parents. Samples were tested for whole exome sequencing Results: There were 51% males. Age ranged from 5 months to 20 years. A total of 55.4% patients had developmental delay and 44.5% had neuroregression. Hearing impairment was found in 7.6% patients while vision was affected in 11.9%. Speech was affected in 66.3% patients while 43.4% patients had seizures. Autistic spectrum of disorders were observed in 20.6% patients. Microcephaly was seen in 19.5% cases. Out of 60 families, 23 (38.3%) had more than one offspring affected. Upper motor neuron signs were present in 50% patients while 15.2% patients had lower motor neuron signs. Leukodystrophy was seen in 19.5% patients. Cerebellar atrophy was observed in 15.2% patients while 17.3% patients had cerebral atrophy. Neuroimaging was normal in 34 patients. On genetic analysis, 48.3% families had known gene mutation while 51.6% families had novel gene mutation. Conclusion: Degenerative brain disorder (DBD) and Global developmental delay/intellectual disability (GDD/ ID) are entities with diverse clinical presentations. Whole exome sequencing is a helpful diagnostic tool. In addition to previously discovered genes, many novel genes have been identified.
format	article
author	Ahmad Omair Virk Faisal Zafar Tipu Sultan
author_facet	Ahmad Omair Virk Faisal Zafar Tipu Sultan
author_sort	Ahmad Omair Virk
title	CLINICO-RADIOLOGICAL FINDINGS AND GENETIC ANALYSIS OF CHILDREN WITH HEREDITARY NEUROLOGICAL DISORDERS
title_short	CLINICO-RADIOLOGICAL FINDINGS AND GENETIC ANALYSIS OF CHILDREN WITH HEREDITARY NEUROLOGICAL DISORDERS
title_full	CLINICO-RADIOLOGICAL FINDINGS AND GENETIC ANALYSIS OF CHILDREN WITH HEREDITARY NEUROLOGICAL DISORDERS
title_fullStr	CLINICO-RADIOLOGICAL FINDINGS AND GENETIC ANALYSIS OF CHILDREN WITH HEREDITARY NEUROLOGICAL DISORDERS
title_full_unstemmed	CLINICO-RADIOLOGICAL FINDINGS AND GENETIC ANALYSIS OF CHILDREN WITH HEREDITARY NEUROLOGICAL DISORDERS
title_sort	clinico-radiological findings and genetic analysis of children with hereditary neurological disorders
publisher	Army Medical College Rawalpindi
publishDate	2019
url	https://doaj.org/article/0502adf2e4404b74a36015f09a5c079e
work_keys_str_mv	AT ahmadomairvirk clinicoradiologicalfindingsandgeneticanalysisofchildrenwithhereditaryneurologicaldisorders AT faisalzafar clinicoradiologicalfindingsandgeneticanalysisofchildrenwithhereditaryneurologicaldisorders AT tipusultan clinicoradiologicalfindingsandgeneticanalysisofchildrenwithhereditaryneurologicaldisorders
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CLINICO-RADIOLOGICAL FINDINGS AND GENETIC ANALYSIS OF CHILDREN WITH HEREDITARY NEUROLOGICAL DISORDERS

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