Results 51 to 60 of about 3,757,153 (283)

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, Mine Uyanik, Ilker Yilmaz, Hülya Kayihan, Meral Topçu, Meral Topc¸u, Meral Topc¸u, Meral Topc¸u, ¨lya Kayihan, Meral Topc¸u   +9 more
openaire   +5 more sources

Trofinetide for the treatment of Rett syndrome: Results from the open-label extension LILAC study.

i Medicina
BACKGROUND Trofinetide was approved for the treatment of Rett syndrome based on the results of the phase 3, randomized, placebo-controlled, 12-week LAVENDER study. Rett syndrome is a chronic disorder requiring long-term treatment.
Alan K. Percy, J. Neul, T. Benke, Elizabeth M. Berry-Kravis, D. Glaze, Eric D. Marsh, D. An, Kathie M. Bishop, James Youakim   +8 more
semanticscholar   +1 more source

Evidence-Based Physical Therapy for Individuals with Rett Syndrome: A Systematic Review

Brain Science, 2020
Rett syndrome is a rare genetic disorder that affects brain development and causes severe mental and physical disability. This systematic review analyzes the most recent evidence concerning the role of physical therapy in the management of individuals ...
M. Fonzo, F. Sirico, B. Corrado
semanticscholar   +1 more source

Compromised immune/inflammatory responses in Rett syndrome.

Free Radical Biology & Medicine, 2020
Mutations in X-linked gene methyl-CpG-binding protein 2 (MECP2), a key transcriptional regulator, account for most cases of Rett syndrome (RTT), a devastating neurodevelopmental disorder with no known cure.
A. Pecorelli, C. Cervellati, V. Cordone, J. Hayek, G. Valacchi   +4 more
semanticscholar   +1 more source

Ageing in Rett syndrome [PDF]

Journal of Intellectual Disability Research, 2015
AbstractBackgroundThe aim was to gain a UK national sample of people with Rett syndrome across the age range and (1) conduct a cross‐sectional comparison of age groups and (2) undertake a longitudinal follow‐up.MethodsFrom 308 potential participants approached to take part, a sample of 91 girls and women was achieved (29.5%).
R. Cianfaglione, A. Clarke, M. Kerr, R. P. Hastings, C. Oliver, D. Felce   +5 more
openaire   +3 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, Martina Semino, Samantha Giannatiempo   +2 more
doaj   +1 more source

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, Antonella Al Refaie, Caterina Mondillo, Michela De Vita, Leonardo Baldassini, Giuseppe Valacchi, Stefano Gonnelli   +6 more
doaj   +1 more source

Interventions targeting challenges experienced by individuals with Pitt Hopkins syndrome: a scoping review

Orphanet Journal of Rare Diseases
Background Pitt–Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder with pronounced impacts on physical health and everyday functioning, including severe intellectual disability, impaired communication, epilepsy, and breathing dysregulation ...
Monika Dolik-Michno, Magnus Starbrink, Helena Wandin, Annika Jernberg Grönlund, Martha Gustavsson, Linn Johnels   +5 more
doaj   +1 more source

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source

Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome

Neurology, 2019
Objective To determine safety, tolerability, and pharmacokinetics of trofinetide and evaluate its efficacy in female children/adolescents with Rett syndrome (RTT), a debilitating neurodevelopmental condition for which no pharmacotherapies directed at ...
D. Glaze, J. Neul, W. Kaufmann, E. Berry-Kravis, Sean Condon, G. Stoms, S. Oosterholt, O. Della Pasqua, L. Glass, Nancy E. Jones, A. Percy   +10 more
semanticscholar   +1 more source