Results 141 to 150 of about 3,757,153 (283)
Orphanet Journal of Rare DiseasesBackground Extracorporeal shock wave therapy (ESWT) is reportedly effective for improving spasticity and motor function in children with cerebral palsy (CP). Because late-stage Rett syndrome has a similar presentation, this study aimed to investigate the
Ting-Yu Su +5 more
doaj +1 more source
Frontiers in Drug DiscoveryIntroductionRett Syndrome is a genetic neurodevelopmental disorder caused by decreased levels of MeCP2. Due to mutations in the MECP2 gene, insufficient MeCP2 protein levels lead to clinical phenotypes including the loss of normal movement, decreased ...
Joseph S. Anderson +4 more
doaj +1 more source
Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient
Clinical Case Reports, 2019 Using whole exome sequencing, we found a pathogenic variant in the EEF1A2 gene in a patient with a Rett syndrome‐like (RTT‐like) phenotype, further confirming the association between EEF1A2 and Rett syndrome RTT and RTT‐like phenotypes.
Simranpreet Kaur +7 more
doaj +1 more source
The effectiveness of music therapy for individuals with Rett syndrome and their families
Journal of the Formosan Medical Association, 2019 Background: Patients with Rett syndrome (RTT) present characteristic regression in communication and hand skills, which eventually leads to intellectual and physical disability. Moreover, caregivers of patients with RTT face stressors related to patients’
Ming-Yi Chou +8 more
doaj +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
Rett Syndrome: Growth and Nutrition
, 1992 Feeding problems, dietary intake and the growth and nutrition of 10 girls with Rett syndrome were reported from the University of Oslo ...
J Gordon Millichap
core +1 more source
Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome
Nature Medicine, 2017 Mutations in MECP2 cause Rett syndrome (RTT), an X-linked neurological disorder characterized by regressive loss of neurodevelopmental milestones and acquired psychomotor deficits. However, the cellular heterogeneity of the brain impedes an understanding
Brian S. Johnson +12 more
semanticscholar +1 more source
Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To map diagnostic procedures and standardized instruments reportedly used to identify autism spectrum disorder (ASD) in people with cerebral palsy or other early‐onset motor conditions (EOMC) including Rett syndrome and muscular dystrophy.
Olga Laporta‐Hoyos +11 more
wiley +1 more source
Role of the International Rett Syndrome Association
, 1988 Since 1984, the International Rett Syndrome Association has brought together families of girls with Rett syndrome, disseminated information about the syndrome, and supported research efforts.
Kathy Hunter
core +1 more source
Placebo‐controlled crossover assessment of mecasermin for the treatment of Rett syndrome
Annals of Clinical and Translational Neurology, 2018 To measure the efficacy of mecasermin (recombinant human insulin‐like growth factor 1, rhIGF‐1), for treating symptoms of Rett syndrome (RTT) in a pediatric population using a double‐blind crossover study design.
Heather M. O'Leary +18 more
semanticscholar +1 more source