Results 151 to 160 of about 3,757,153 (283)

Shared dysregulation of complement and phosphorylation pathways in the cerebrospinal fluid of encephalitis, Aicardi–Goutières syndrome, and autism

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To identify shared and disorder‐specific molecular alterations across encephalitis, Aicardi–Goutières syndrome (AGS), and autism spectrum disorder (ASD) using cerebrospinal fluid (CSF) proteomics. Method In this cross‐sectional case–control study, mass‐spectrometry‐based proteomics was performed on archived CSF samples collected between ...
Omar H. Shadid, Peter G. Hains, Velda X. Han, Jingya Yan, Michael Griffiths, Ignatius Pang, Sushil Bandodkar, Phillip J. Robinson, Russell C. Dale   +8 more
wiley   +1 more source

Deep brain stimulation outcomes and management of childhood‐onset dystonia and associated hyperkinetic movements disorders

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To examine longitudinal changes in self‐selected goals and dystonia severity over 1 year, 2 years, and 5 years after deep brain stimulation (DBS) in children and young people (CYP) with dystonia and other hyperkinetic movement disorders, using CYP and caregiver reports.
Sinead Barkey, Laura Ainaga, Eva Maria Navarrete Muñoz, Verity McClelland, Keyoumars Ashkan, Richard Selway, Harutomo Hasegawa, Daniel E Lumsden, Jean‐Pierre Lin, Hortensia Gimeno   +9 more
wiley   +1 more source

The History and Challenge of Rett Syndrome

, 1988
Rett syndrome was first described in 1966 by Dr Andreas Rett, who reported in German his findings in 22 patients. Recognition of the syndrome grew slowly until 1983, when a series of 35 patients from several countries was reported in English.
Richard H. Haas
core   +1 more source

The utility of the term ‘Rett‐like’ in relation to Rett syndrome: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
Our findings show that ‘Rett‐like’ generally describes females with developmental disability, typically with no period of regression. We establish that there is a broad genetic landscape encompassing this disorder. Clinical utility of ‘Rett‐like’ is limited, with inadequate evidence of validity and diagnostic use of ‘Rett‐like’.
Anahita Khot, Daniel E Lumsden
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

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

The FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon, Kyra Swildens, Vera M. Kalscheuer, Cristina Gontan, Francisco Bustos   +4 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

Toileting Problems and Associated Factors in Adults Enrolled in the Global Angelman Syndrome Registry

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Angelman Syndrome (AS) is a rare neurodevelopmental disorder caused by the lack of expression of the UBE3A gene, which can result from abnormalities of the maternally inherited chromosome 15q11‐q13. The purpose of this study is to investigate the most common types of toileting problems in adults with AS and the associated factors of
Emma Walsh, Arlene Mannion, Sally Whelan, Evan Flynn, Megan Tones, Helen Heussler, Matthew Bellgard, Geraldine Leader   +7 more
wiley   +1 more source

Parent/Caregiver Perspectives on the Healthcare Decision‐Making Involvement of Young People With Intellectual Disability: A Qualitative Study

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Young people with intellectual disability often have complex healthcare needs. Parent/caregivers can enhance their child's involvement in healthcare decision‐making to improve treatment adherence and health outcomes. Healthcare decision‐making is embedded within health literacy skillsets, and for people with intellectual disability ...
Jessica Keeley, Zhenmei Yeap, Thomas Nevill, Rachel Skoss, Aasta Abbott, Sandra Thompson, Sophie Haywood, Rachel Collins, Katherine Langdon, Jenny Downs   +9 more
wiley   +1 more source

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong‐On, Pornprot Limprasert   +3 more
wiley   +1 more source