Results 61 to 70 of about 1,143 (221)
Andrology, EarlyView.ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding +3 more
wiley +1 more source
ANZ Journal of Surgery, EarlyView.ABSTRACT Background Paediatric neuromuscular and syndromic scoliosis patients have multiple medical comorbidities that increase the risk of postoperative complications. There is a lack of consistent literature assessing the specific risk factors for complications following scoliosis correction surgery in this high‐risk cohort.
Mai Pham +4 more
wiley +1 more source
Human brain matters: Navigating the neuropathology of COVID‐19
Brain Pathology, EarlyView.Severe COVID‐19 is associated with vascular dysregulation and chronic neuroinflammation, leading to axonal injury and neurodegeneration. In long COVID or PASC, persistent alterations in neuroimaging and biofluid biomarkers reflect ongoing neuronal damage and neuroinflammation, contributing to long‐term neurological symptoms including fatigue, cognitive
Juliana M. Nieuwland +4 more
wiley +1 more source
Autism spectrum disorder in children with spinal muscular atrophy type 1: Case series
Developmental Medicine &Child Neurology, EarlyView.Autism spectrum disorder (ASD) was identified in 37.5% of children with SMA (n = 13). While IQ did not differ significantly between groups, adaptive functioning was reduced in those with co‐occurring ASD. Results support routine early neurodevelopmental screening in children with spinal muscular atrophy.
Lorena V. Rezende +4 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Outcomes of children with cerebral palsy receiving long‐term respiratory support. Aim To review barriers to ethical and equitable access to disease‐modifying therapies (DMTs) and newborn screening (NBS) for spinal muscular atrophy (SMA). Method We searched PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, Google Scholar, and Primo for ...
Serini Murugasen +3 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To describe the use of the Pediatric Evaluation of Disability Index‐Computer Adapted Test (PEDI‐CAT), a parent‐reported outcome, and determine functional performance in a cohort with leukodystrophy. Method This was a cross‐sectional observational study.
Stacy V. Cusack +20 more
wiley +1 more source
The Spinal Muscular Atrophy Functional Classification System
Developmental Medicine &Child Neurology, EarlyView.The Spinal Muscular Atrophy Functional Classification System (SMAFCS) is a new four‐level functional mobility classification for spinal muscular atrophy, derived from Hammersmith Functional Motor Scale Expanded (HFMSE) thresholds and Functional Mobility Scale (FMS) groupings.
Jason J. Howard +5 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Aim To explore children's and young people's experiences with extended reality (XR) in rehabilitation, their perceptions of its benefits and challenges, and their visions for its future integration. Method A qualitative, interpretive, descriptive study was conducted using semi‐structured interviews and focus groups with children and young people who ...
Jéromine Hervo +8 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Population: n = 21studies, 7299 infants Assessment: Hammersmith Infant Neurological Examination (HINE) Global Scores at 3 months (Corrected age), 6 months, 9 months, and 12 months. Crucial Finding: A HINE score <58 at 3 months predicts cerebral palsy (Sensitivity: 79.6%, Specificity: 88.7%).
Ting‐Ju Kuo +3 more
wiley +1 more source