Results 241 to 250 of about 2,872,819 (305)

Logic and felicity in the face of intellectual disability: linguistic scales and Williams syndrome. [PDF]

Lang Learn Dev
Achimova A, Musolino J, Pasquinelli R, Landau B.   +3 more
europepmc   +1 more source

Strengthening Responses to Older Adult Abuse: A Review of Contextual Prevention Strategies in Australian Policy

Australian Journal of Social Issues, EarlyView.
ABSTRACT Older adult abuse is a significant social issue that has attracted necessary attention in Australian policy. Yet, the scope of abuse prevention strategies proposed within these policies has not been systematically reviewed, nor has their alignment with evidence‐informed frameworks been assessed.
Madeline Lee, Emily Moir, Nadine McKillop   +2 more
wiley   +1 more source

Cancer screening learning for adults with intellectual disability. [PDF]

Can J Public Health
Satgé D, Neumann-Michel E, Otandault A, Lecluse A, Olivier E, Palpacuer M, Heber-Suffrin X, Trétarre B, Serrand C, Petitpierre G.   +9 more
europepmc   +1 more source

Access to Justice for People With Disability in Australia: A Systematic Review

Australian Journal of Social Issues, EarlyView.
ABSTRACT People with disability face persistent inequities in accessing justice. This systematic review synthesised evidence on what facilitates and impedes access to the justice system for people with disability in Australia, focusing on the little studied area of civil and administrative law. There were 47 peer‐reviewed papers included, most of which
Kate Davies, Ivy Vuong, Sarah E. Ratcliffe   +2 more
wiley   +1 more source

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly. [PDF]

Clin Genet
Vanden Eynde N, Hérissant L, Landais E, Egloff M, Rio M, Baujat G, Giuliano F, Karmous-Benailly H, Coutton C, Satre V, Vieville G, Kuentz P, Nizon M, Beneteau C, Isidor B, Callier P, Marquet V, Bieth E, Lévy J, Tabet AC, Cartault F, Scheidecker S, Gouronc A, Schalk A, Angélini C, Pennamen P, Rooryck C, Trajkova S, Gagachovska B, Shrom-Model B, Braddock SR, Hillman P, Liu L, Fenger CD, Hammer TB, Schanze I, Zenker M, Doco-Fenzy M, Poirsier C, Jouret G.   +39 more
europepmc   +1 more source

Association Between Genetic Ancestry and Multiple Sclerosis Severity

Annals of Neurology, EarlyView.
Objective The objective of this study was to determine whether genetic ancestry is associated with differences in the clinical course of multiple sclerosis (MS). Methods Participants with MS living in the United Kingdom >18 years old were recruited from 2021 to 2025 and genotyped from saliva using a commercial array. Genetic ancestry was inferred using
Benjamin M. Jacobs, Emily Tregaskis‐Daniels, Luisa Schalk, Jakub Nagrodski, ADAMS investigators, Michelle Peter, Rashmi Kaimal, Roxanne Murray, Sadid Hoque, Terri‐Louise Brown, Ghaniah Hassan‐Smith, Helen L. Ford, Bruno Gran, Karim L. Kreft, Cord Spilker, Outi Quinn, David Rog, Miriam Mattoscio, Elisa Visentin, Ramya Shamji, Grace Fawehinmi, Katila George, Maria Papachatzaki, Katharine Harding, Rod Middleton, Tarunya Arun, Waqar Rashid, Adil Harroud, Huw R. Morris, Eli Silber, Gavin Giovannoni, Alastair J. Noyce, Ruth Dobson   +32 more
wiley   +1 more source

Identification of biallelic loss-of-function <i>PREP</i> variants in three individuals with syndromic intellectual disability. [PDF]

J Med Genet
Hertstein E, Bertrand M, Kopp J, Sczakiel HL, Küchler O, von Kügelgen N, Fischer-Zirnsak B, Hildebrand G, Leubner J, Horn D, Mundlos S, Haack TB, Kaindl A, Korenke CG, Boschann F.   +14 more
europepmc   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source