Results 161 to 170 of about 3,757,153 (283)

The Use of Health Administrative Data in Intellectual Disability Research in Australia: A Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Health administrative data are increasingly used to investigate physical and mental health disparities experienced by people with intellectual disability worldwide. However, approaches to identifying people with intellectual disability differ across studies, complicating knowledge translation and policymaking.
Peiwen Liao, Manzoor Khan, Jack Cooper, Zhiyuan Wang, Julian N. Trollor, Preeyaporn Srasuebkul, Helen Leonard   +6 more
wiley   +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

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

Generation of human induced pluripotent stem cell lines derived from four Rett syndrome patients with MECP2 mutations

Stem Cell Research
Rett syndrome is characterized by severe global developmental impairments with autistic features and loss of purposeful hand skills. Here we show that human induced pluripotent stem cell (hiPSC) lines derived from four Japanese female patients with Rett ...
Miyu Mori, Shoko Yoshii, Michiya Noguchi, Daigo Takagi, Tomoya Shimizu, Hidenori Ito, Mami Matsuo-Takasaki, Yukio Nakamura, Satoru Takahashi, Hiromichi Hamada, Kiyoshi Ohnuma, Tadashi Shiohama, Yohei Hayashi   +12 more
doaj   +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

MRI Neuroanatomy of Rett Syndrome

, 1993
The neuroanatomy of 11 females with Rett syndrome (RS) and 15 control subjects investigated in vivo with quantitative MRI is reported from Johns Hopkins University, Baltimore ...
J Gordon Millichap
core   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2547-2552, November 2026.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Mitochondrial Alterations in Rett Syndrome

, 1989
Muscle biopsy findings in two patients with Rett syndrome are reported from the Departments of Obstetrics/Gynecology, Pediatrics, and Pathology, Medical College of Ohio, Toledo ...
J Gordon Millichap
core   +1 more source

Fetal alcohol syndrome in association with Rett syndrome

, 2004
Fetal alcohol syndrome in association with RETT syndrome: We report on a girl with neonatal dystrophy, microcephaly, heart defect, and the characteristic features of alcohol embryopathy.
Bartels, I., Zoll, Barbara, Wessel, Alok D., Huppke, Peter, Laccone, Franco A.   +4 more
core   +2 more sources

Rett syndrome in the era of early diagnosis and therapy: From genotype to phenotype

Developmental Medicine &Child Neurology, EarlyView.
Christian P. Schaaf
wiley   +1 more source