Results 141 to 150 of about 2,462,658 (261)

Understanding health services and puberty for autistic adolescents and those with disability: A scoping review to inform occupational therapy practice

Australian Occupational Therapy Journal, Volume 73, Issue 2, April 2026.
Abstract Introduction Puberty is a transitional period presenting challenges for autistic adolescents, adolescents with disabilities and their families. There are opportunities for occupational therapy to provide support to this cohort as adolescents navigate the complexity of puberty transition.
Sarah Hausler, Kate Sargeant, Emma George   +2 more
wiley   +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 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

Rett and Rett‐like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene

Molecular Genetics & Genomic Medicine, 2019
This study aimed to investigate the new genetic etiologies of Rett syndrome (RTT) or Rett‐like phenotypes.
Jiaping Wang, Qingping Zhang, Yan Chen, Shujie Yu, Xi-ru Wu, X. Bao   +5 more
semanticscholar   +1 more source

Inclusion going digital: An international perspective on empirical studies

Journal of Research in Special Educational Needs, Volume 26, Issue 2, April 2026.
Abstract With this paper we present a systematic review of empirical studies published between January 2013 and December 2023 in English on the use of information and communication technology in inclusive and special educational needs school contexts.
Claudia Mertens, Carolin Quenzer‐Alfred, Tim Homrighausen, Anna‐Maria Kamin, Daniel Mays   +4 more
wiley   +1 more source

Equinoterapia en niñas con síndrome de Rett [PDF]

, 2013
Curs 2012-2013El presente estudio tiene como objetivo principal la valoración de los beneficios que la equinoterapia tiene en niñas afectadas con síndrome de Rett, y se llevará a cabo en un centro hípico que reúna las condiciones e instalaciones ...
Ibáñez Ibáñez, Diana
core  

Epigenetic mechanisms and therapeutic innovations in chronic pain‐associated neuropsychiatric co‐morbidities

British Journal of Pharmacology, Volume 183, Issue 7, Page 1313-1340, April 2026.
Abstract Chronic pain, marked by nociceptive sensitization and maladaptive neuroplasticity, affects 30% of the global population with escalating socioeconomic burdens. Epidemiological data show a 2‐3‐fold increase in neuropsychiatric co‐morbidities among individuals with chronic pain, where epigenetic dysregulation serves as a key mechanism linking ...
Kai Zhang, Sijia Zhu, Na Xing, Zhen Zhou, Jiayi Chen, Tianen Si, Mingrui Li, Lin Jia, Yousef Rastegar‐Kashkooli, Tom J. Wang, Wei Zhu, Jing Li, Chao Jiang, Junmin Wang, Moxin Wu, Xiaoping Yin, Weidong Zang, Jian Wang, Songxue Su   +18 more
wiley   +1 more source

What Matters Most? Developing a Core Patient Reported Outcome Set for Individuals With Genetic Intellectual Disabilities: An International Delphi Study

Journal of Intellectual Disability Research, Volume 70, Issue 4, Page 403-416, April 2026.
ABSTRACT Background Improving care and research for individuals with genetic intellectual disabilities (GID) requires the identification and measurement of relevant patient reported outcomes (PROs). PROs represent the patient perspective on their health status.
Nadia Y. van Silfhout, Maud M. van Muilekom, Leonie A. Menke, Clara D. van Karnebeek, Lotte Haverman, Agnies M. van Eeghen   +5 more
wiley   +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, Ying-Tao Zhao, Maria Fasolino, Janine M. Lamonica, Y. Kim, G. Georgakilas, Kathleen H. Wood, Daniel Bu, Yue Cui, Darren Goffin, G. Vahedi, Tae Hoon Kim, Zhaolan Zhou   +12 more
semanticscholar   +1 more source

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

Annals of Clinical and Translational Neurology, Volume 13, Issue 3, Page 453-465, March 2026.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Abdullah Acar, Ahmet Acarer, Arzu Karabay, Asuman Ali, Ayla Barlas, Aysegul Gunduz, Banu Ozen Barut, Baris Baslo, Bilge Kocer, Bilgehan Mus, Birsen Karaman, Burcu Gokce Cokal, Cem Ismail Kucukali, Cenk Akbostanci, Ceyhun Sayman, Cagla Turan, Dilek Ince Gunal, Ebru Bilge Dirik, Ebru Erzurumluoglu, Elif Kocasoy Orhan, Enes Demiryurek, Emrah Yucesan, Ercan Kose, Erdem Tuzun, Esen Saka Topcuoglu, Esra Okuyucu, Fatma Betul Ozdilek, Feriha Ozer, Gencer Genc, Gozde Unal, Gulay Kenangil, Gullu Tarhan, Gunes Kiziltan, Halil Onder, Hamit Genc, Hasmet Hanagasi, Hatice Yuksel, Hulya Apaydin, Koray Kirimtay, Mehmet Guney Senol, Melisa Kilic, Meltem Demirkiran, Mert Karaca, Miray Erdem, Muhammet Bilgehan Mus, Murat Gultekin, Nalan Capan, Nazan Karagoz Sakalli, Nazli Basak, Nihan Hande Akcakaya, Ozan Ezer, Ozge Uygun, Ozge Yilmaz Kuspeci, Ozgur Oztop Cakmak, Pervin Iseri, Petek Ballar Kirmizibayrak, Pinar Elkoca, Recep Alp, Remzi Yigiter, Rezzak Yilmaz, Sadika Ozdemir, Selda Keskin, Selen Ilhan Alp, Selen Soylu, Serdar Ceylaner, Serhat Ozkan, Sevda Erer Ozbek, Sevgin Gundogan, Sevil Yasufli, Sezin Alpaydin Baslo, Sibel Ertan, Sultan Cagirici, Seyma Aykac, Vuslat Yilmaz, Yaprak Secil, Yasar Kutukcu, Yeliz Ciftci, Yesim Sucullu Karadag, Yildiz Değirmenci, Zeliha Matur, Nerses Bebek, Murat Emre, Zuhal Yapici   +95 more
wiley   +1 more source