期刊
JOURNAL OF CHILD NEUROLOGY
卷 30, 期 3, 页码 344-356出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073814532543
关键词
global developmental delay; intellectual disability; single domain developmental delay; genetic syndromes
资金
- European Community [MIRG-CT-2005-030967]
- European Union
- European Social Fund under the project Telemedicine-focused research activities on the field of Mathematics, Informatics and Medical Sciences [TAMOP-4.2.2.A-11/1/KONV-2012-0073, TAMOP-4.2.2.A-11/1KONV-2012-0052]
The spectrum of neurodevelopmental disabilities was studied in a cohort of patients in Hungary. A search for etiologies and assessment of the degree of intellectual disability were carried out. The study included 241 (131 boys) patients. Disability occurred without any prenatal, perinatal, and/or neonatal adverse events in 167 patients. They were classified into the following subgroups: genetic syndromes with recognized etiology, global developmental delay/intellectual disability in association with dysmorphic features but unknown etiology, global developmental delay/intellectual disability without dysmorphic features and recognized etiology, brain malformations, inborn errors of metabolism, leukoencephalopathies, epileptic syndromes, developmental language impairment, and neuromuscular disorders. Adverse events occurred in 74 children classified into subgroups such as cerebral palsy after delivery preterm or at term, and disabilities without cerebral palsy. The etiology was identified in 66.4%, and genetic diagnosis was found in 19.5%. Classification of neurodevelopmental disorders contribute to etiological diagnosis, proper rehabilitation, and genetic counseling.
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