Results 61 to 70 of about 4,773 (143)

Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome

Journal of Intellectual Disability Research, Volume 69, Issue 8, Page 682-692, August 2025.
ABSTRACT Background Challenging behaviours such as self‐injury and aggression are prevalent among individuals with intellectual disability (ID), significantly impacting quality of life. Cardiofaciocutaneous syndrome (CFCS), a rare multisystem genetic disorder caused by variants in the BRAF, MAP2K1, MAP2K2, or KRAS genes, commonly presents with ID and ...
Dante J. Rogers, Rebekah L. Hudock, Adele F. Dimian, Josue Collazo‐Lopez, Ryan Shanley, Elizabeth I. Pierpont   +5 more
wiley   +1 more source

Objective, computerized video-based rating of blepharospasm severity [PDF]

, 2016
OBJECTIVE: To compare clinical rating scales of blepharospasm severity with involuntary eye closures measured automatically from patient videos with contemporary facial expression software.
Bartlett, MS, Hallett, M, Jinnah, HA, Littlewort, GC, Macerollo, A, Perlmutter, JS, Peterson, DA, Sejnowski, TJ   +7 more
core   +1 more source

Digital Psychological Wellbeing Interventions for Family Carers of Children and Adults With Intellectual and Developmental Disabilities: A Systematic Review

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, Andreas Paris, Joanna Griffin, Richard P. Hastings, Ellie Finch, Debbie Austin, Samantha Flynn   +6 more
wiley   +1 more source

Management of Lacerated and Swollen Tongue after Convulsive Seizure with a Mouth Protector: Interprofessional Collaboration Including Dentists in Intensive Care [PDF]

, 2014
We encountered a 74-year-old male patient with tongue laceration after convulsive seizures under intensive care. The tongue showed severe swelling, and the right ventral surface had been lacerated by his isolated and pointed right lower canine.
Morimatsu, Hiroshi, Morita, Manabu, Moriya, Yoshie, Okui, Akemi, Sato, Kenji, Soga, Yoshihiko, Takeuchi, Tetsuo, Yamanaka, Reiko   +7 more
core   +1 more source

The Role of Metabolic Testing in the Diagnostic Evaluation of Adult NORSE: A Retrospective, Single‐Centre Study

European Journal of Neurology, Volume 32, Issue 6, June 2025.
ABSTRACT Background New‐onset refractory status epilepticus (NORSE) is a diagnostically challenging and severe epileptic presentation in which aetiology is an important predictor of outcome. This retrospective study aimed to investigate the utility of metabolic screening to determine the underlying cause in 42 patients with suspected NORSE, admitted to
Jennifer Kilmer, George Ransley, Elaine Murphy, Michael G. Hanna, Robert D. S. Pitceathly, Sanjeev Rajakulendran, Chiara Pizzamiglio   +6 more
wiley   +1 more source

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

Prospective Characterisation of Age‐Related Changes in Self‐Injurious Behaviour in a Sample of Children With Global Developmental Delay Aged 2–12 Years

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, Jaclyn Gunderson, Andrea Huebner, Frank J. Symons   +3 more
wiley   +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

Comparison of four different algorithms for the calculation of radioimmunoassay standard curves [PDF]

, 1980
Peer ...
Herndl, R., Marschner, I., Scriba, Peter Christian   +2 more
core   +2 more sources

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, Audrey G. O'Neill, Justin M. Kollman, Hyder A. Jinnah, Michael Zech   +4 more
wiley   +1 more source