Results 91 to 100 of about 1,736,311 (408)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Barriers and Enablers to Accessing Mental Health Services for People With Intellectual Disability: A Scoping Review

, 2018
Background: It is well established that people with an intellectual disability have high rates of mental health problems, yet rates of uptake of services do not match need.
E. Whittle, K. Fisher, S. Reppermund, R. Lenroot, J. Trollor   +4 more
semanticscholar   +1 more source

Maternal race-ethnicity, immigrant status, country of birth, and the odds of a child with autism spectrum disorder [PDF]

, 2017
The risk of autism spectrum disorder varies by maternal race–ethnicity, immigration status, and birth region. In this retrospective cohort study, Western Australian state registries and a study population of 134 204 mothers enabled us to examine the odds
Baxter J, Braun KVN, Centers for Disease Control and Prevention, Hewitt A, Office of Immigration Statistics, Ronald A, Scheinost D, Schwab JA., Woodward M   +8 more
core   +2 more sources

RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Parkinson's disease (PD) is a neurodegenerative disorder that may sometimes be caused by deleterious genetic variants. Among them, RAB39B polymorphisms are known as rare causes of early‐onset PD associated with intellectual disability (Waisman's syndrome).
Caterina Del Regno, Giovanni Ermanis, Christian Lettieri, Andrea Bernardini, Gaia Pellitteri, Enrico Belgrado, Elena Betto, Gian Luigi Gigli, David De Monte, Marco Domenico Scanni, Marco Mucchiut, Giuseppe Damante, Mariarosaria Valente, Francesco Janes   +13 more
wiley   +1 more source

The Effect of Exercise on Anxiety of Adolescents with Intellectual Disability

Physical Treatments, 2015
Purpose: The present study aimed to investigate the effect of exercise on the anxiety of adolescents with intellectual disability. Methods: Study method was quasi-experimental with pretest-posttest design and a control group.
Masoomeh Salehpoor, Mohsen Salesi, Ghorban Hemati Alamdarloo   +2 more
doaj  

Factors associated with death in people with intellectual disability.

Journal of Applied Research in Intellectual Disabilities, 2019
BACKGROUND People with intellectual disability (ID) experience higher mortality than the general population. This study examines factors contributing to deaths in people with intellectual disability. METHOD Linked administrative data spanning ten years
S. Reppermund, P. Srasuebkul, K. Dean, J. Trollor   +3 more
semanticscholar   +1 more source

Stigma, Social Comparison and Self-Esteem in Adults with an Intellectual Disability [PDF]

, 2012
Background: The paper examines the perception of stigma in 43 adults with an intellectual disability, the relationship this has with their psychological well-being and whether the process of social comparison has a moderating effect on this relationship.
Lindsay, William, McKenzie, Karen, Paterson, Lucy   +2 more
core   +1 more source

Longitudinal Relationship Between Pain and Depression in People With Inflammatory Arthritis: A Narrative Review

Arthritis Care &Research, EarlyView.
As many patients with inflammatory arthritis (IA) have chronic pain, understanding how to best assess and manage pain in IA is a priority. Comorbid depression is prevalent in adults with IA, affecting 15% to 39% of people. Although pain and depression are thought to be associated in IA, this concept is largely based on cross‐sectional data.
Natasha Cox, Saeed Farooq, Helen Twohig, Ian C. Scott   +3 more
wiley   +1 more source

SpeechMatch—A novel digital approach to supporting communication for neurodiverse groups

Healthcare Technology Letters
Communication can be a challenge for a significant minority of the population. Those with intellectual disability, autism, or Stroke survivors can encounter significant problems and stigma in their communication abilities leading to worse health and ...
Sarah Lennard, Samuel J. Tromans, Robert Taub, Sarah Mitchell, Rohit Shankar   +4 more
doaj   +1 more source

Acceptability of virtual psychiatric consultations for routine follow-ups post COVID-19 pandemic for people with intellectual disabilities: cross-sectional study

BJPsych Open
Background After the rapid implementation of digital health services during the COVID-19 pandemic, a paucity of research exists about the suitability of remote consulting in people with intellectual disabilities and their carers, particularly for ...
Samuel Tromans, Sarah Rybczynska-Bunt, Sarah Mitchell, Susan Cummins, David Cox, Jennifer Downing, Paul H. Lee, Lucy Teece, Tony Marson, Rohit Shankar   +9 more
doaj   +1 more source