Results 101 to 110 of about 272,074 (239)

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

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

Verbal behaviour development for children with autism

, 2011
The utility of functional accounts of language development in establishing the emergence of generalised verbal behaviour in children with autism was evaluated through a programme of research that also investigated ways in which interactions between ...
Degli Espinosa, Francesca
core   +1 more source

Oxidative Stress, Folate Receptor Autoimmunity, and CSF Findings in Severe Infantile Autism. [PDF]

Autism Res Treat, 2020
Ramaekers VT, Sequeira JM, Thöny B, Quadros EV.   +3 more
europepmc   +1 more source

Understanding the Reproductive Life Planning Experiences of People With Disabilities in Ontario, Canada: A Qualitative Exploration

Perspectives on Sexual and Reproductive Health, EarlyView.
ABSTRACT Introduction Reproductive life planning can be a valuable component of reproductive health promotion. However, little is known about attitudes, desires, and intentions regarding pregnancy among people with disabilities. This exploratory qualitative study aimed to understand the reproductive life planning experiences of women and gender‐diverse
Momina Khan, Hilary K. Brown, Yona Lunsky, Lesley A. Tarasoff   +3 more
wiley   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, Volume 200, Issue 12, Page 2794-2803, December 2026.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

“They are mad and must be hidden or locked away”: A qualitative study of community members’ perception about dementia from African countries participating in the READD‐ADSP Project

Alzheimer's &Dementia: Behavior &Socioeconomics of Aging, Volume 2, Issue 4, December 2026.
Abstract INTRODUCTION Cultural narratives significantly shape dementia perception. This study explored knowledge and beliefs regarding dementia among Community Advisory Board (CAB) members in Nigeria, Ghana, and Cameroon. METHODS Ten focus group discussions were conducted with 83 CAB members after a training program within the Recruitment and Retention
Eniola Cadmus, Michelle Nichols, Oyedunni Arulogun, Olorunyomi F. Olorunsogbon, Temitope Farombi, Mayowa Ogunronbi, Babatunde Ojebuyi, Taofeek A. Sanni, Mubashir Uthman, Abdullateef Gbenga Sule, Godspower Chibuike Onunka, Benedict Calys‐Tagoe, Ifeoma Adaigwe Amaechi, Adedoyin O. Ogunyemi, Solomon Gyabaah, Osimhiarherhuo Adeleye, Nathaniel Coleman, Yembe Njamnshi, Victoria Mutiso, Joy Louise Gumikiriza Onoria, Tsimona Dinku, Obo Y. Onibon, Daniel E. Ukpabi, Hypolite O. Ezin, Tolulope Olumide Afolaranmi, Emmanuel Iwuozo, Ezinne Uvere, Dorcas Olujobi, Oyedolapo Oyedola, Joshua Akinyemi, Godwin I. Ogbole, Kazeem Akinwande, Christine Musyimi, Innocent Mwombeki, Damas Andrea, Albertino Damasceno, Abiodun Bello, Kolawole Wahab, David Ndetei, Paul Nwani, Olufisayo Elugbadebo, Reginald Obiako, Paul Olowoyo, Yared Z. Zewde, Biniyam A. Ayele, Njideka U. Okubadejo, Godwin Osaigbovo, Kelvin Okorie, Chiamaka Okereke, Fred Sarfo, Albert Akpalu, Lwere Kamada, Olusegun Baiyewu, Adefolakemi Temitope Ogundele, Alfred K. Njamnshi, Thierry Adoukonou, Stella‐Maria Paddick, Ernest Okwundu Nwazor, Nosakhare Osemwegie, Lawrence Adekunle Adebusoye, Olufemi O. Olowookere, Jean Ikanga, Maelenn Guerchet, Anthony J. Griswold, Sudha Seshadri, Allison Caban‐Holt, Mayowa Owolabi, Jeffery M. Vance, Richard Walker, Goldie Byrd, Rajesh N. Kalaria, Michael Cucarro, Adesola Ogunniyi, Margaret Pericak‐Vance, Rufus Akinyemi   +74 more
wiley   +1 more source

Injury Patterns among Individuals Diagnosed with Infantile Autism during Childhood: A Case-Control Study [PDF]

Scandinavian Journal of Child and Adolescent Psychiatry and Psychology, 2016
Svend Erik Mouridsen, Bente Rich, Torben Isager   +2 more
doaj   +1 more source

NMDA receptor subunit‐dependent analysis of radiprodil inhibition in neonatal male rat substantia nigra dopaminergic neurons

British Journal of Pharmacology, Volume 183, Issue 23, Page 6767-6786, December 2026.
Abstract Background and Purpose Radiprodil is a GluN2B subunit selective NMDA receptor negative allosteric modulator which is currently under clinical investigation as a possible anti‐epileptic drug for paediatric use. Our goal was to investigate the inhibition of dopaminergic neuron NMDA responses by radiprodil.
Bangyuan Liu, Alasdair J. Gibb
wiley   +1 more source

Selective attention and perceptual load in autism spectrum disorder [PDF]

, 2010
This thesis examines selective attention in young adults with Autism Spectrum Disorder (ASD). Existing literature regarding this issue is mixed; some research suggesting an overly-focused attentional style (Rincover & Ducharme, 1987) while others ...
Remington, A.M.
core