Results 131 to 140 of about 1,423,846 (344)

The Familial Risk of Autism Spectrum Disorder with and without Intellectual Disability [PDF]

, 2020
Sherlly Xie, Håkan Karlsson, Christina Dalman, Linnea Widman, Dheeraj Rai, Renee M. Gardner, Cecilia Magnusson, Sven Sandin, Loni Philip Tabb, Craig J. Newschaffer, Brian K. Lee   +10 more
openalex   +1 more source

Participation for mental health service development in China: Conditions, challenges, facilitators, and outcomes

American Journal of Community Psychology, EarlyView.
Abstract This study analyzes a participatory project to develop peer support services for people with serious mental illnesses (SMIs) in China. Drawing on interviews with psychiatrists, social workers, service users, and a family caregiver, it examines the conditions, challenges, facilitators, and outcomes of participation in a paternalistic context ...
Zhiying Ma, Yu Fan, Xiyuan Chen, Lindsay Sheehan, Sang Qin, Aoxuan Cao, Liang Zhou   +6 more
wiley   +1 more source

Evidencing the challenges of care delivery for people with intellectual disability and epilepsy in England by using the Step Together toolkit

BJPsych Open
Background People with intellectual disability (PwID) and epilepsy have increased premature and potentially preventable mortality. This is related to a lack of equitable access to appropriate care.
Tom Shillito, Lance Watkins, Hafsha Ali, Georgia Page, Angie Pullen, Sarah Mitchell, Ashok Roy, Arjune Sen, Michael Kinney, Rhys Thomas, Phil Tittensor, Manny Bagary, Arun Subramanium, Bridie Kent, Rohit Shankar   +14 more
doaj   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Neuropsychiatric research databases for people with intellectual disabilities and epilepsy (REFINE): a feasibility study protocol

BMJ Open
Introduction This project explores the feasibility of setting up a neuropsychiatric de-identified database (DiD) and a Research Register (RR) to collect, analyse, monitor and systematically report clinical data for people with intellectual disabilities ...
Rohit Shankar, Victoria Allgar, Crispin Musicha, Pamela Bowman, Heather Angus-Leppan, Brendan McLean, Helen Hambly, Anna Simpson, Jon Allard, Richard Laugharne, Joe Lomax, Paigan Aspinall, Helen Neilens, Emily Stanyard, Ryan Ashford, Emma O’Shaughnessy, Chris Rollinson, Sarah Lennard, Lance Watkins   +18 more
doaj   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Specialist psychiatric health care utilization among older people with intellectual disability – predictors and comparisons with the general population: a national register study [PDF]

, 2020
Gerd Ahlström, Anna Axmon, Magnus Sandberg, Jenny Hultqvist   +3 more
openalex   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source