Results 71 to 80 of about 2,462,658 (261)

The Digestive System and Nutritional Considerations for Individuals with Rett Syndrome

The Scientific World Journal, 2006
Rett syndrome (RS) is a neurodevelopmental syndrome of genetic origin that mainly affects females. Individuals diagnosed with RS exhibit a variety of functional difficulties that impair their quality of life.
Meir Lotan, Lilit Zysman
doaj   +1 more source

Diurnal variation in autonomic regulation among patients with genotyped Rett syndrome

Journal of Medical Genetics, 2020
Background Rett syndrome is a severe neurological disorder with a range of disabling autonomic and respiratory symptoms and resulting predominantly from variants in the methyl-CpG binding protein 2 gene on the long arm of the X-chromosome.
M. S. Carroll, J. Ramirez, D. Weese-Mayer   +2 more
semanticscholar   +1 more source

Altered Brain Structure in an ATRX‐Deficient Mouse Model of Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Mutations in the ATRX gene are a primary cause of alpha‐thalassemia intellectual disability X‐linked (ATRX) syndrome, which is characterized by intellectual disability, autism, and a range of brain structural abnormalities, including microcephaly.
Katherine Quesnel, Jacob Ellegood, Jason P. Lerch, Nathalie G. Bérubé   +3 more
wiley   +1 more source

Development of trofinetide for the treatment of Rett syndrome: from bench to bedside

Frontiers in Pharmacology
Rett syndrome (RTT) is rare neurodevelopmental disorder caused by mutations in the MECP2 gene that encodes methyl-CpG-binding protein 2 (MeCP2), a DNA-binding protein with roles in epigenetic regulation of gene expression.
Melissa Kennedy, Larry Glass, Daniel G. Glaze, Steve Kaminsky, Alan K. Percy, Jeffrey L. Neul, Nancy E. Jones, Daniela Tropea, Joseph P. Horrigan, Paige Nues, Kathie M. Bishop, James M. Youakim   +11 more
doaj   +1 more source

How reconstructive surgery combined with physiotherapy for a painful nontraumatic patellar dislocation enabled a woman with Rett syndrome to become pain free and remain physically active: A case report

Clinical Case Reports, 2019
Key Clinical Message The effects of orthopedic measures, with the exception of scoliosis surgery, are rarely described in individuals with Rett syndrome.
Lena Svedberg, Bengt Herngren, Piotr Michno   +2 more
doaj   +1 more source

Deficits in skilled motor and auditory learning in a rat model of Rett syndrome

Journal of Neurodevelopmental Disorders, 2020
Background Rett syndrome is an X-linked neurodevelopmental disorder caused by a mutation in the gene MECP2. Individuals with Rett syndrome display developmental regression at an early age, and develop a range of motor, auditory, cognitive, and social ...
Katherine S. Adcock, Abigail E. Blount, Robert A. Morrison, Amanda Alvarez-Dieppa, Michael P. Kilgard, Crystal T. Engineer, Seth A. Hays   +6 more
doaj   +1 more source

Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome

Italian Journal of Pediatrics, 2022
Background Breathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking.
Sergio Ghirardo, Letizia Sabatini, Alessandro Onofri, Maria Beatrice Chiarini Testa, Maria Giovanna Paglietti, Daria Diodato, Lorena Travaglini, Fabrizia Stregapede, Marta Luisa Ciofi degli Atti, Claudio Cherchi, Renato Cutrera   +10 more
doaj   +1 more source

Behavioral and epileptic phenotypes in a CHD2‐related developmental delay model

Epilepsia, EarlyView.
Abstract Objective Heterozygous loss‐of‐function mutations in the CHD2 gene, encoding chromodomain helicase DNA‐binding protein 2, are associated with severe childhood onset epilepsy, global developmental delay, and autistic features. Animal models that accurately recapitulate human phenotypes are crucial for understanding rare neurodevelopmental ...
Anat Mavashov, Shaked Turk, Yael Sarusi, Marina Brusel, Rotem Ben Tov Perry, Shir Quinn, Yael Almog, Karni Vilian, Mor Yam, Igor Ulitsky, Moran Rubinstein   +10 more
wiley   +1 more source

Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database

Journal of Neurodevelopmental Disorders
Background With the advent of the first targeted therapy for Rett Syndrome (RTT), a comprehensive assessment of the journey of RTT is needed to elucidate on present unmet needs in this population.
Damian May, Kalé Kponee-Shovein, Jeffrey L. Neul, Alan K. Percy, Malena Mahendran, Nathaniel Downes, Grace Chen, Talissa Watson, Dominique C. Pichard, Melissa Kennedy, Patrick Lefebvre   +10 more
doaj   +1 more source

Baseline characteristics and feasibility of clinical outcome measures in CDKL5 deficiency disorder: The CANDID observational study

Epilepsia, EarlyView.
Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy, CANDID Partners, Tricia Cimms, Kristina Lindsten, Marco Rizzo, Alison Skrinar, Peter St. Wecker, Ana Mingorance, Orrin Devinsky   +8 more
wiley   +1 more source