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Direct linkAgustina Sabino Romagnoli; Letícia Nunes Campos; Daniel Fernandez-Guzman; Sofia Wagemaker; Federico Fernandez Zelcer; Carlos Stegmann; Carina F. Argüelles; Laura F. Sosa; Ayla Gerk; Jorgelina Stegmann – Journal of Applied Research in Intellectual Disabilities, 2025
Background: Mucopolysaccharidosis type III (MPS III) is a rare lysosomal storage disease with systemic complications. This scoping review aimed to synthesise evidence regarding methods to diagnose and monitor MPS III. Methods: We searched 10 databases for English and Spanish citations published from 2017 to 2022. Our study focused on human-based…
Descriptors: Clinical Diagnosis, Patients, Genetic Disorders, Diseases
Hirano, Daisuke; Goto, Yoshinobu; Shoji, Hiroaki; Taniguchi, Takamichi – Journal of Applied Research in Intellectual Disabilities, 2022
Background: We investigated how many individuals with Rett syndrome were undergoing interventions to reduce stereotypic hand movements and the factors determining the presence or absence of an intervention. Method: A questionnaire was sent to 194 families. Each survey item was compared between the intervention and non-intervention groups according…
Descriptors: Genetic Disorders, Behavior Problems, Intervention, Age Differences
Amoako, Annika Nina; Hare, Dougal Julian – Journal of Applied Research in Intellectual Disabilities, 2020
Background: Research into Rett syndrome has included various medical interventions. Non-medical interventions are relatively under-researched. Recent technological communication intervention advances have contributed to the evidence base in Rett syndrome. Method: The Embase, PsycINFO and MEDLINE were systematically searched for peer-reviewed…
Descriptors: Genetic Disorders, Intervention, Interpersonal Communication, Music
Pignatti, Riccardo; Mori, Ileana; Bertella, Laura; Grugni, Graziano; Giardino, Daniela; Molinari, Enrico – Journal of Applied Research in Intellectual Disabilities, 2013
Background: Obsessive-compulsive (O-C) traits, and excessive food intake are well known behavioural manifestations among individuals with Prader-Willi Syndrome (PWS). Other unwanted behaviours are also frequently observed, but they need a more specific investigation, especially in the adult population. Methods: The behaviour of 31 PWS adults was…
Descriptors: Behavior Problems, Mental Retardation, Adults, Symptoms (Individual Disorders)
Oliver, Chris; Woodcock, Kate A.; Humphreys, Glyn W. – Journal of Applied Research in Intellectual Disabilities, 2009
Background: Repetitive questions and temper outbursts form part of the behavioural phenotype of Prader-Willi syndrome (PWS). We investigated the phenomenology of temper outbursts in PWS and their relationship with other PWS behavioural characteristics. Method: Four individuals with PWS were observed (5-10 h), during a number of experimental and…
Descriptors: Mental Retardation, Crying, Coping, Phenomenology
