Results 71 to 80 of about 2,872,819 (305)

Poo Manager: Co‐Designing a Serious Computer Game to Improve Constipation Management Awareness in Carers of People With Intellectual Disabilities

Healthcare Technology Letters
Approximately 2% of the population are people with intellectual disability (PwID). PwID are prone to multimorbidity, polypharmacy and premature mortality.
Serena Daniel, Ruth Bishop, Stephen Howard, Sarah Lennard, Samantha Pye, Richard Laugharne, Christopher James, Rohit Shankar   +7 more
doaj   +1 more source

IRB challenges in multisite studies: A case report and commentary from the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing (IDS-TILDA) [version 1; peer review: 3 approved]

HRB Open Research
A shift from single to multi-site health studies enabled a range of research benefits including faster recruitment of larger and more diverse samples; increased statistical power, greater rigour, generalisability, and external reliability; and increased ...
Darren McCausland, Margaret Haigh, Mary McCarron, Philip McCallion   +3 more
doaj   +1 more source

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

Brain : a journal of neurology, 2019
Ion channel mutations can cause distinct neuropsychiatric diseases. We first studied the biophysical and neurophysiological consequences of four mutations in the human Na+ channel gene SCN8A causing either mild (E1483K) or severe epilepsy (R1872W), or ...
Yuan-Yuan Liu, Julian Schubert, L. Sonnenberg, K. Helbig, C. Hoei-Hansen, M. Koko, Maert Rannap, Stephan Lauxmann, Mahbubul Huq, Michael C. Schneider, K. Johannesen, G. Kurlemann, E. Gardella, F. Becker, Y. Weber, J. Benda, R. Møller, H. Lerche   +17 more
semanticscholar   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Impact of Covid-19 on Intellectual Disability [PDF]

This webinar seeks to raise awareness of the physical health needs of people with intellectual disability as well as explore key determinants of health inequities. This is an opportunity to review new ideas and initiatives that aim to improve the quality
Chauhan, Umesh
core   +3 more sources

The overlooked burden: anti-seizure medications, laxatives, and antipsychotics prescribed in primary care for people with intellectual disability

Frontiers in Psychiatry
ObjectivesPeople with intellectual disabilities (PwID) have higher prevalences of epilepsy and constipation than the general population. Constipation is having fewer than three bowel movements or requiring laxatives three or more times weekly.
Richard Laugharne, Richard Laugharne, Ian Wilson, Mike Wilcock, Rohit Shankar, Rohit Shankar   +5 more
doaj   +1 more source

‘Get Healthy!’ physical activity and healthy eating intervention for adults with intellectual disability: results from the feasibility pilot

Pilot and Feasibility Studies, 2023
Background People with intellectual disabilities (ID) experience high rates of lifestyle related morbidities, in part due to lack of access to tailored health promotion programmes.
Carmela Salomon, Jessica Bellamy, Elizabeth Evans, Renae Reid, Michelle Hsu, Scott Teasdale, Julian Trollor   +6 more
doaj   +1 more source

What’s in a name? Alternatives to “learning disability” [PDF]

, 2006
The term learning disability is currently used in the UK to describe people who require a service due to a low intellectual ability. It is argued that the term is demeaning, confusing and, as currently defined, fails to describe the group of people to ...
The Burton Street Group, Sheffield, Whitaker, Simon   +1 more
core   +2 more sources

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Clinical Assessment of Visual Motion Perception in Children With Brain Damage: A Comparison With Base Rates and Control Sample

Frontiers in Human Neuroscience, 2021
Aim: In this study, we examined (1) the presence of abnormally low scores (below 10th percentile) in various visual motion perception aspects in children with brain damage, while controlling for their cognitive developmental delay; (2) whether the risk ...
Ymie J. van der Zee, Ymie J. van der Zee, Peter L. J. Stiers, Lieven Lagae, Heleen M. Evenhuis   +4 more
doaj   +1 more source