Results 31 to 40 of about 1,349,658 (342)

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 135-143, January 2023., 2023
Abstract We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well‐known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome.
Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer   +30 more
wiley   +1 more source

Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 183-189, January 2023., 2023
Abstract Coffin‐Siris syndrome (CSS, OMIM#135900) is a rare congenital disorder associated with neurodevelopmental and dysmorphic features. The primary cause of CSS is pathogenic variants in any of 9 BAF chromatin‐remodeling complex encoding genes or the genes SOX11 and PHF6. Herein, we performed whole‐exome sequencing (WES) and a series of analyses of
Qiuquan Wang, Jie Wu, Jinyuan Yang, Shasha Huang, Yongyi Yuan, Pu Dai   +5 more
wiley   +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

Further characterization of NFIB‐associated phenotypes: Report of two new individuals

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023
Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella, Eugenia Conti, Bianca Buchignani, Giada Sgherri, Rosa Pasquariello, Flavio Giordano, Paola Cristofani, Roberta Battini, Agatino Battaglia   +8 more
wiley   +1 more source

The impact of coronavirus disease 2019 (COVID-19) on older adults with an intellectual disability during the first wave of the pandemic in Ireland [version 2; peer review: 2 approved]

HRB Open Research, 2021
Background: People with intellectual disability have increased risk of exposure to and adverse outcomes from coronavirus disease 2019 (COVID-19).They also face challenges to mental health and well-being from COVID-19-related social restrictions and ...
Darren McCausland, Andrew Allen, Retha Luus, Eimear McGlinchy, Fintan Sheerin, Fidelma Flannery, Eilish Burke, Mary McCarron, Philip McCallion   +8 more
doaj  

Should we add visual acuity ratios to referral criteria for potential cerebral visual impairment?

Journal of Optometry, 2017
Purpose: To determine whether the assessment of visual acuity ratios might improve the referral of children with (sub)normal visual acuity but at risk of cerebral visual impairment.
Ymie J. van der Zee, Peter Stiers, Heleen M. Evenhuis   +2 more
doaj   +1 more source

Knowledge, perceptions and experiences of risk to sexual violence among adults with intellectual disabilities in Cape Town, South Africa

African Journal of Disability, 2022
Background: People with intellectual disabilities are at high risk to sexual violence, yet minimal research has been conducted in South Africa to understand this phenomenon, especially seeking perspectives of people with intellectual disabilities ...
Callista K. Kahonde, Rebecca Johns
doaj   +1 more source

AI-Augmented Behavior Analysis for Children with Developmental Disabilities: Building Towards Precision Treatment [PDF]

, 2021
Autism spectrum disorder is a developmental disorder characterized by significant social, communication, and behavioral challenges. Individuals diagnosed with autism, intellectual, and developmental disabilities (AUIDD) typically require long-term care and targeted treatment and teaching.
arxiv   +1 more source

Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 332-337, February 2023., 2023
Abstract GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams–Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as part of an autosomal recessive disease have not been previously reported. Here,
Christopher Thomas Cummings, Lois Janelle Starr   +1 more
wiley   +1 more source

Editorial on Psychological distress in the Greek general population during the first COVID-19 lockdown

BJPsych Open, 2021
This editorial discusses a study by Karaivazoglou and colleagues, where the authors investigated anxiety, depressive, post-traumatic stress-related symptoms and coronavirus disease 2019 (COVID-19)-related beliefs in the Greek population during the first ...
Samuel Tromans
doaj   +1 more source