Results 31 to 40 of about 18,037 (234)
Journal of Neurodevelopmental Disorders, 2019 Background Rett syndrome is a neurodevelopmental disorder caused by a mutation in the X-linked MECP2 gene. Individuals with Rett syndrome typically develop normally until around 18 months of age before undergoing a developmental regression, and the ...
Katherine J. Roche +5 more
doaj +1 more source
Frontiers in Neurology, 2022 BackgroundBreathing abnormalities are common in Rett syndrome (RTT), a pervasive neurodevelopmental disorder almost exclusively affecting females. RTT is linked to mutations in the methyl-CpG-binding protein 2 (MeCP2) gene.
Silvia Leoncini +11 more
doaj +1 more source
HYDROTHERAPY FOR RETT SYNDROME
Journal of Rehabilitation Medicine, 2003 The effects of hydrotherapy on an 11-year-old girl with stage III Rett syndrome were investigated.The Halliwick method was used to apply hydrotherapy in a swimming pool twice a week for 8 weeks. The girl's physical abilities were assessed 3 times: before and 5 minutes after a single hydrotherapy session and after 8 weeks of hydrotherapy.
Gonca Bumin +9 more
openaire +4 more sources
The GAIRS Checklist: a useful global assessment tool in patients with Rett syndrome
Orphanet Journal of Rare Diseases, 2022 Background Rett Syndrome is a severe, neurodevelopmental disorder mainly caused by mutations in the MECP2 gene, affecting around 1 in 10,000 female births.
Rosa Angela Fabio +2 more
doaj +1 more source
Management of epilepsy in patients with Rett syndrome: perspectives and considerations [PDF]
, 2015 Natalija Krajnc Department of Child, Adolescent and Developmental Neurology, University Children’s Hospital, Ljubljana, Slovenia Abstract: Rett syndrome (RTT) is a common neurodevelopmental disorder that appears in infancy with regression of ...
Natalija Krajnc +2 more
core +2 more sources
Bone Fracture in Rett Syndrome: Mechanisms and Prevention Strategies
Children, 2023 The present study aimed to evaluate the burden and management of fragility fractures in subjects with Rett syndrome. We searched all relevant medical literature from 1 January 1986 to 30 June 2023 for studies under the search term “Rett syndrome and ...
Carla Caffarelli +6 more
doaj +1 more source
CNV and nervous system diseases - what's new? [PDF]
, 2008 Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified.
Gu, W., Lupski, J. R.
core +1 more source
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
Rett syndrome linked to defects in forming the MeCP2/Rbfox/LASR complex in mouse models
Nature Communications, 2021 MeCP2 mutations can cause Rett syndrome, a severe childhood neurological disorder. Here the authors show that MeCP2 mediates the higher-order assembly of a large splicing complex Rbfox/LASR, which is disrupted in the mouse models of Rett syndrome.
Yan Jiang +13 more
doaj +1 more source
Epileptic Disorders, EarlyView.Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer +4 more
wiley +1 more source