Results 71 to 80 of about 7,545 (235)
Journal of Applied Research in Intellectual Disabilities, Volume 38, Issue 4, July 2025.ABSTRACT Background This review explored (1) what digital psychological wellbeing interventions for family carers of people with intellectual and developmental disabilities were reported in the literature, (2) evidence about their effectiveness, (3) factors affecting their implementation and (4) experiences of family carers who attend them.
Magda M. Apanasionok +6 more
wiley +1 more source
EXAMINING THE RELATIONSHIP BETWEEN GENETIC COUNSELORS’ IMPLICIT ATTITUDES TOWARD DISABILITY AND THEIR PRACTICE METHODS [PDF]
, 2018 Genetic counselors serve as a link between the medical community and the disability community as they are regularly the first exposure families have following a new diagnosis in a pregnancy, infant or child.
Gould, Helen W
core +1 more source
A 50 year old with a rapid neuropsychiatric deterioration and choreaform movements [PDF]
, 2017 A 50-year-old man presented acutely to the hospital with behavioural disturbance, choreiform movements and profound nihilistic delusions. He reported recent drug and alcohol abuse, and also apparent involvement in several recent criminal activities, for ...
Campbell, Stewart +3 more
core +1 more source
Journal of Intellectual Disability Research, Volume 69, Issue 6, Page 465-479, June 2025.ABSTRACT Background Self‐injurious behaviour (SIB) is a common problem among individuals with intellectual and developmental disabilities (IDDs) with important impacts on quality of life. Although some evidence suggests that SIB may increase with age, perhaps in a curvilinear pattern, this is primarily based on cross‐sectional studies.
Breanne J. Byiers +3 more
wiley +1 more source
Purine Metabolism and Dystonia: Perspectives of a Long‐Promised Relationship
Annals of Neurology, Volume 97, Issue 5, Page 809-825, May 2025.Purine pool imbalance in purine metabolism disorders, such as Lesch–Nyhan disease, intersects with dystonia pathogenesis. The recent discovery of gain‐of‐function IMPDH2 pathogenic variants in patients with prominent dystonic manifestations provides new insights into the link between dystonia and purinergic system defects.
Ugo Sorrentino +4 more
wiley +1 more source
The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]
, 2013 A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core
LESCH-NYHAN SYNDROME: A CASE REPORT [PDF]
THE JOURNAL OF THE KOREAN ACADEMY OF PEDTATRIC DENTISTRY, 2011 Lesch-Nyhan syndrome is a disease caused by metabolic disorder of purine. General muscle stiffness and hyposomia are shown from infancy and symptoms can include involuntary or irregular movements of arms and legs, mental retardation, and compulsive self-mutilating behaviors.
Seon-Mi Kim +3 more
openaire +2 more sources
New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients [PDF]
, 2015 International audienceBackground: Lesch-Nyhan disease is a rare X-linked neurodevelopemental metabolic disorder caused by a wide variety of mutations in the HPRT1 gene leading to a deficiency of the purine recycling enzyme hypoxanthine-guanine ...
Brassier, Anaïs +8 more
core +2 more sources
Varieties of Pathological Self-Mutilation
Behavioural Neurology, 1990 Pathological self-mutilation appears as a non-specific symptom as well as a specific syndrome. Since psychotic persons may commit horrifying acts, such as enucleation of an eye or amputation of a body part, identification of high risk patients is crucial.
Armando R. Favazza, Richard J. Rosenthal
doaj +1 more source
Which neurodevelopmental disorders get researched and why?
PLoS ONE, 2010 AimThere are substantial differences in the amount of research concerned with different disorders. This paper considers why.MethodsBibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders ...
Dorothy V M Bishop
doaj +1 more source