Results 101 to 110 of about 18,037 (234)

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, Nicole J. Van Bergen, Wendy Anne Gold, Stefanie Eggers, Sebastian Lunke, Susan M. White, Carolyn Ellaway, John Christodoulou   +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, Nai-Wen Chang, Chieh Chen, Wang-Tso Lee, Yi-Jung Hsin, Ka-Kit Siu, Chih-Jen Chen, Liang-Jen Wang, Pi-Lien Hung   +8 more
doaj   +1 more source

Full‐Spectrum Medicinal Cannabis Plant Extract 0.08% THC (NTI164) Improves Symptoms of Rett Syndrome: An Open‐Label Study

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim The aim of this Phase I/II open‐label study was to assess the safety and efficacy of NTI164, a novel full‐spectrum medicinal cannabis plant extract 0.08% Δ‐9‐tetrahydrocannabinol (THC), in Rett syndrome (RTT). Methods Eleven female participants (5–16 years) with a pathogenic variant in the MECP2 gene were recruited to this study, receiving
B. A. Keating, Y. Ogru, T. G. Duthy, L. Douglas, K. Lichkus, E. Isikgel, M. C. Fahey, C. Ellaway   +7 more
wiley   +1 more source

Therapeutic effects of extracorporeal shock wave therapy on patients with spastic cerebral palsy and Rett syndrome: clinical and ultrasonographic findings

Orphanet Journal of Rare Diseases
Background 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, Yu-chi Huang, Jih-Yang Ko, Yi-Jung Hsin, Min-Yuan Yu, Pi-Lien Hung   +5 more
doaj   +1 more source

Growth, Feeding and Nutrition in Rett Syndrome: Retrospective Audit of Twenty Years' Experience From an Australian Multidisciplinary Management Clinic

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim This study reviewed the nutritional status, feeding skills, safety, and management of patients with Rett syndrome during childhood and adolescence. Method Retrospective chart review of 103 females with classical Rett syndrome, aged ≤ 18 years, attending a Rett syndrome Multidisciplinary Management clinic in a tertiary hospital from 2000 to
Susan Thompson, Toni Bird, Gloria Tzannes, Carolyn Ellaway   +3 more
wiley   +1 more source

Rett syndrome: Prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders [PDF]

, 2007
Rett syndrome is an X-linked dominant neurodevelopmental disorder. Mutation of the methyl-CpG-binding protein 2 gene (MECP2) is present in up to 96% of patients with Rett syndrome.
Li, SYH, Wong, VCN
core   +1 more source

Characterisation of sleep apneas and respiratory circuitry in mice lacking CDKL5

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary CDKL5 deficiency disorder is a rare genetic disease caused by mutations in the CDKL5 gene. Central apneas during wakefulness have been reported in patients with CDKL5 deficiency disorder. Studies on CDKL5‐knockout mice, a CDKL5 deficiency disorder model, reported sleep apneas, but it is still unclear whether these events are central (central ...
Gabriele Matteoli, Sara Alvente, Stefano Bastianini, Chiara Berteotti, Elisabetta Ciani, Elenia Cinelli, Viviana Lo Martire, Giorgio Medici, Tommaso Mello, Elena Miglioranza, Alessandro Silvani, Donatella Mutolo, Giovanna Zoccoli   +12 more
wiley   +1 more source

Genetic Aspects of Rett Syndrome [PDF]

, 1988
To date over 1,000 cases of Rett syndrome have been described in females exclusively. Some of these cases, less than 2 in 100, are familial. The inheritance through maternal lines in the familial cases suggests that Rett syndrome is an X-linked disorder
Huda Zoghbi
core   +1 more source

Transduction of hematopoietic stem and progenitor cells by an MECP2 lentiviral vector improves Rett syndrome phenotypes

Frontiers in Drug Discovery
IntroductionRett 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, Jill L. Silverman, Alyse L. Lodigiani, Camilla M. Barbaduomo, Julie R. Beegle   +4 more
doaj   +1 more source

The Association Between Foetal Brain and Body Size Mid‐Gestation and Neurodevelopmental Disorders in Childhood

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Smallness for gestational age and reduced head circumference at birth are consistently associated with later neurodevelopmental disorders (NDD), but it is unclear whether similar associations are present at foetal biometry in mid‐gestation. Objectives To investigate associations between second‐trimester foetal biometric measurements
Mads Langager Larsen, Gorm Greisen, Lone Krebs, Christina Engel Hoei‐Hansen, Olav Bjørn Petersen   +4 more
wiley   +1 more source