Results 111 to 120 of about 18,037 (234)

The Nutritional Aspects of Rett Syndrome [PDF]

, 1988
Nutrition is a major problem for the Rett patient. We have studied 21 girls with Rett syndrome (19 typical, two atypical). We report our experience in this population with the nutritional aspects of Rett syndrome, the typical dietary habits, and various ...
Marylynne A. Rice, Richard H. Haas
core   +1 more source

Mortality Risk Between Ages 11 and 22 Years Among Young People With Neurodisability in England: A National Cohort Study Using Linked Health and Education Data

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Mortality risk rises from childhood into early adulthood. Young people with neurodisability (neurological conditions causing functional limitations) may be particularly vulnerable during the transition from paediatric to adult services.
Louise Macaulay, Jennifer Saxton, Tamsin Ford, Stuart Logan, Katie Harron, Ruth Gilbert, Ania Zylbersztejn   +6 more
wiley   +1 more source

Targeting Neuronal Activity with Ampakine: A Therapeutic Approach for Rett Syndrome [PDF]

openRett syndrome (RTT) is a rare and severe neurodevelopmental disorder, primarily affecting females. Patients are characterized by an apparently normal early development followed by a regression phase between 6 and 18 months of age, which marks the ...
VAROTTO, VIRGINIA
core  

Fetal alcohol syndrome in association with Rett syndrome [PDF]

, 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

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.

PLoS ONE, 2013
Rett syndrome (OMIM#312750) is a monogenic disorder that may manifest as a large variety of phenotypes ranging from very severe to mild disease. Since there is a weak correlation between the mutation type in the Xq28 disease-gene MECP2/X-inactivation ...
Elisa Grillo, Caterina Lo Rizzo, Laura Bianciardi, Veronica Bizzarri, Margherita Baldassarri, Ottavia Spiga, Simone Furini, Claudio De Felice, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Lucia Ciccoli, Maria Antonietta Mencarelli, Joussef Hayek, Ilaria Meloni, Francesca Ariani, Francesca Mari, Alessandra Renieri   +17 more
doaj   +1 more source

Mapping Trofinetide Polypharmacology in Rett Syndrome: A Multi‐Stage Computational Analysis

Journal of Computational Chemistry, Volume 47, Issue 21, August 5, 2026.
How can a single molecule address the complex symptoms of Rett syndrome? This computational study maps the multi‐target mechanism of trofinetide, revealing diverse modes of binding across five key receptors: GAT1, GABAA, CHRM1, AMPA, and GSK3β. From deep orthosteric anchoring to dynamic surface interactions, these structural insights provide a rational
Luis Felipe Hernández‐Ayala, Gabriel Eduardo Guzmán‐López, Annia Galano   +2 more
wiley   +1 more source

Understanding Rett Syndrome: Genetic, clinical and therapeutic perspectives - literature review

Journal of Education, Health and Sport
Introduction and Objective: Rett syndrome (RTT) is a genetic neurodevelopmental disorder that predominantly affects the female. The disease develops after 6 months of age causing abnormalities in the child's development.
Sylwia Urbańska, Aleksandra Witas, Martyna Borowska-Łygan, Justyna Pięta   +3 more
doaj   +1 more source

Epigenetic Mechanisms Underlying Cognitive Dysfunction in Parkinson's Disease: Current Evidence and Future Prospects

Brain and Behavior, Volume 16, Issue 8, August 2026.
Epigenetic mechanismsincluding DNA methylation, histone modifications, and microRNA (miRNA) regulationmodulate gene expression without altering the DNA sequence and are increasingly implicated in the cognitive impairment associated with Parkinson's disease (PD). Environmental and molecular factors influence these epigenetic pathways, leading to altered
Fatemeh Hasani, Mohammad Ebrahim Kherad, Mohammad Sharifi Sarasyabi, Kimia Jazi, Ali Ashkbari, Payam Ahmadi, Hadise Heidarpour, Mahdi Masrour, Sina Khamaki, Rahem Rahmati, Andrei Surguchov   +10 more
wiley   +1 more source

MECP2 regulates cortical plasticity underlying a learned behaviour in adult female mice

Nature Communications, 2017
Rett syndrome is associated with impaired synaptic connectivity beginning in early development. Here the authors show in female mice heterozygous forMecp2, a model of Rett syndrome, that during adulthood, auditory cortex plasticity associated with a ...
Keerthi Krishnan, Billy Y. B. Lau, Gabrielle Ewall, Z. Josh Huang, Stephen D. Shea   +4 more
doaj   +1 more source

Autonomic Function in Fragile X Syndrome: A Systematic Review

Journal of Intellectual Disability Research, Volume 70, Issue 8, Page 773-787, August 2026.
ABSTRACT Background Fragile X syndrome (FXS) is a monogenic X‐linked cause of intellectual disability and autism. Individuals with FXS often have high levels of anxiety and sometimes display challenging behaviours. Autonomic dysfunction has been suggested to be one physiological mechanism that may contribute to these.
Sydni Weissgold, Sarah E. A. Eley, Damien Wright, Andrew G. McKechanie, Andrew C. Stanfield   +4 more
wiley   +1 more source