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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
MeCP2 Functions Largely Cell-Autonomously, but Also Non-Cell-Autonomously, in Neuronal Maturation and Dendritic Arborization of Cortical Pyramidal Neurons [PDF]
, 2013 Rett syndrome is a human neurodevelopmental disorder presenting almost exclusively in female infants; it is the second most common cause of mental retardation in girls, after Down’s syndrome.
Kishi, Noriyuki, Macklis, Jeffrey Daniel
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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 +4 more
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Modeling Autistic Features in Animals [PDF]
, 2011 A variety of features of autism can be simulated in rodents, including the core behavioral hallmarks of stereotyped and repetitive behaviors, and deficits in social interaction and communication.
Patterson, Paul H.
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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
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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
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
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 +10 more
semanticscholar +1 more source
Potential therapeutic use of the ketogenic diet in autism spectrum disorders. [PDF]
, 2014 The ketogenic diet (KGD) has been recognized as an effective treatment for individuals with glucose transporter 1 (GLUT1) and pyruvate dehydrogenase (PDH) deficiencies as well as with epilepsy.
Dueñas, Nadia +2 more
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Science Translational Medicine, 2019 KCC2 expression–enhancing small molecules rescue cellular and behavior deficits in human RTT neurons and Mecp2 mutant mice. Restoring balance in Rett syndrome Rett syndrome (RTT) is a neurodevelopmental disorder causing cognitive, motor, and emotional ...
Xin Tang +11 more
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