Results 141 to 150 of about 540,064 (342)

Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation [PDF]

, 2009
Oliver Fuchs, Nicole Pfarr, Joachim Pohlenz, Heinrich Schmidt   +3 more
openalex   +1 more source

Submission to the UN Day of General Discussion on the Right to Education for Persons with Disabilities, 15th April 2015 [PDF]

, 2015
This submission addresses the progress of inclusive education for children and young people with intellectual disabilities around the globe. As part of our submission we present data from a survey of disability organisations and experts (researchers and ...
Hamid, A, Kett, M, Scior, K
core  

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
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

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 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

Understanding the mental health experiences of adult men with intellectual disabilities in Singapore

, 2021
Jonathan Ee, Jan Mei Lim, Biza Stenfert Kroese, John Rose   +3 more
openalex   +2 more sources

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Widespread Focal Cortical Alterations in Autism Spectrum Disorder with Intellectual Disability Detected by Threshold-Free Cluster Enhancement [PDF]

, 2016
Valeria Elisa Contarino, Sara Bulgheroni, Silvia Annunziata, Alessandra Erbetta, Daria Riva   +4 more
openalex   +1 more source

Kualitas Relasi Orang Tua-anak dan Resiliensi pada Orang Tua dengan Anak Disabilitas Intelektual [PDF]

, 2017
The quality of parent-children relationship and resilience among parents with children with intellectual disabilityPurposehis study was conducted to know the relation between quality of parent-child relationship and resilience among parents of children ...
Nurjannah, I. (Intansari), Senja, A. (Amalia), Soewadi, S. (Soewadi)   +2 more
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