Results 91 to 100 of about 18,028 (242)

Unexpected cellular players in Rett syndrome pathology

Neurobiology of Disease, 2016
Rett syndrome is a devastating neurodevelopmental disorder, primarily caused by mutations of methyl CpG-binding protein 2 (MeCP2). Although the genetic cause of disease was identified over a decade ago, a significant gap still remains in both our ...
James C. Cronk, Noel C. Derecki, Vladimir Litvak, Jonathan Kipnis   +3 more
doaj   +1 more source

The cost of Rett syndrome [PDF]

Developmental Medicine & Child Neurology, 2019
This commentary is on the original article by Rodocanachi Roidi et al. on pages 957–963 of this issue.
openaire   +2 more sources

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

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

Rett Syndrome. Case report

, 2019
Introducción: el síndrome de Rett es un trastorno del desarrollo neuropsicológico  poco frecuente, ocurre casi exclusivamente en las niñas y provoca una discapacidad progresiva.
Rivero, Omar Hernández, Hernández Rivero, Odalys, Pérez Fernández, Addys   +2 more
core  

Therapeutic effects of extracorporeal shock wave therapy on patients with spastic cerebral palsy and Rett syndrome: clinical and ultrasonographic findings

Orphanet Journal of Rare Diseases
Background Extracorporeal shock wave therapy (ESWT) is reportedly effective for improving spasticity and motor function in children with cerebral palsy (CP). Because late-stage Rett syndrome has a similar presentation, this study aimed to investigate the
Ting-Yu Su, Yu-chi Huang, Jih-Yang Ko, Yi-Jung Hsin, Min-Yuan Yu, Pi-Lien Hung   +5 more
doaj   +1 more source

Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient

Clinical Case Reports, 2019
Using whole exome sequencing, we found a pathogenic variant in the EEF1A2 gene in a patient with a Rett syndrome‐like (RTT‐like) phenotype, further confirming the association between EEF1A2 and Rett syndrome RTT and RTT‐like phenotypes.
Simranpreet Kaur, Nicole J. Van Bergen, Wendy Anne Gold, Stefanie Eggers, Sebastian Lunke, Susan M. White, Carolyn Ellaway, John Christodoulou   +7 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

The Association Between Foetal Brain and Body Size Mid‐Gestation and Neurodevelopmental Disorders in Childhood

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Smallness for gestational age and reduced head circumference at birth are consistently associated with later neurodevelopmental disorders (NDD), but it is unclear whether similar associations are present at foetal biometry in mid‐gestation. Objectives To investigate associations between second‐trimester foetal biometric measurements
Mads Langager Larsen, Gorm Greisen, Lone Krebs, Christina Engel Hoei‐Hansen, Olav Bjørn Petersen   +4 more
wiley   +1 more source

Oral Manifestations of Rett Syndrome—A Systematic Review

, 2021
Rett Syndrome is an x linked developmental disorder which becomes apparent in females after 6 to 18 months of age. It leads to severe impairments including loss of speech, loss of hand movements/manual dexterity, characteristic hand movements such as ...
Mariam Khawaja, Francesco Amenta, Syed Sarosh Mahdi, Syed Saad B. Qasim, Hafsa Abrar Jafri, Raheel Allana   +5 more
core   +1 more source