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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
Aparicio, Paloma; Barba, Raquel; Moldenhauer, Fernando; Suárez, Carmen; Real de Asúa, Diego – Journal of Applied Research in Intellectual Disabilities, 2023
Objectives: To describe the clinical and epidemiological characteristics of adult patients with Down syndrome admitted to Spanish hospitals between 1997 and 2014. Secondary goals were to study trend changes over time, and to analyse differences between patients admitted to medical and surgical departments. Patients and Methods: Retrospective…
Descriptors: Adults, Down Syndrome, Patients, Hospitals
Sandberg, Magnus; Ahlström, Gerd; Kristensson, Jimmie – Journal of Applied Research in Intellectual Disabilities, 2017
Background: Knowledge about diagnoses patterns in older people with intellectual disabilities is limited. Methods: The case group (n = 7936) comprised people with intellectual disabilities aged 55 years and older. The control group (n = 7936) was age matched and sex matched. Somatic inpatient diagnoses (2002-2012) were collected retrospectively.…
Descriptors: Older Adults, Intellectual Disability, Clinical Diagnosis, Case Studies
