Results 101 to 110 of about 1,939 (189)
Developmental Medicine &Child Neurology, EarlyView.Aim To examine longitudinal changes in speech and gross motor function in children with cerebral palsy (CP) between 4 years and 14 years of age using the Viking Speech Scale (VSS) and the Gross Motor Function Classification System (GMFCS). Method In this longitudinal observational study, 44 children (26 male, 18 female) with CP were assessed at ages 4 ...
Sydney A. Jensen, Katherine C. Hustad
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.This systematic overview highlights communication impairment as a defining feature of Rett syndrome, with expressive language consistently affected more severely than receptive language and social ability. Across the literature, most studies rely on caregiver‐reported measures, with relatively few employing direct or objective measurements of speech ...
Lucas N. Raniolo +6 more
wiley +1 more source
Genetic testing in paediatric neurological disorders
Developmental Medicine &Child Neurology, EarlyView.In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba +15 more
wiley +1 more source
TOP1MT rs2293925 is an enhancer‐active regulatory SNP that shapes mitochondrial R‐loop dynamics
The FEBS Journal, EarlyView.This study shows how a common genetic variant of mitochondrial topoisomerase 1 (TOP1MT rs2293925) can influence mitochondrial gene regulation, DNA topology, and formation of noncanonical nucleic acid structures such as R‐loops. By linking this enhancer‐active variant to mitochondrial nucleic acid stress in cellular contexts relevant to amyotrophic ...
Dóra Varga +15 more
wiley +1 more source
CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder +7 more
wiley +1 more source
Acoustic Features of Vowels in Patients with Dysarthria
康复学报, 2019 Dysarthria are speech disorders that result from neurologic impairments associated with weakness, slowness, or incoordination of the musculature used to produce speech.
Jing XU +4 more
doaj
From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis
Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.ABSTRACT Coenzyme A (CoA) biosynthesis is a conserved, dynamically regulated pathway essential for mitochondrial energy production, fatty acid oxidation, lipid biosynthesis and protein acylation. Biallelic variants in PANK2, PPCS, PPCDC, and COASY cause rare inborn errors of CoA biosynthesis, associated with markedly different clinical phenotypes ...
Ivano Di Meo +3 more
wiley +1 more source
Muscle &Nerve, Volume 74, Issue 3, Page 685-691, September 2026.ABSTRACT Introduction/Aims Needle electromyography (EMG) in the bulbar region aids in the diagnosis of amyotrophic lateral sclerosis (ALS) but remains technically challenging. The genioglossus muscle (GM) is commonly examined; however, pain and poor relaxation may limit its evaluation.
Tatsuya Fukumoto +5 more
wiley +1 more source