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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
Magdalena Glod; Deborah M. Riby; Jacqui Rodgers – Review Journal of Autism and Developmental Disorders, 2020
To date, little is known about sensory processing in Williams syndrome (WS) and the similarities of the sensory profile in individuals with WS compared to people with other neurodevelopmental disorders. The current review aims to consolidate available evidence on sensory processing in WS. Eighteen primary studies investigating sensory processing…
Descriptors: Genetic Disorders, Developmental Disabilities, Perceptual Impairments, Age Differences
Donaghy, Bethany; Moore, David; Green, Jane – Child Care in Practice, 2023
Background: Neurodivergence has been established as associated with a significant number of co-occurring physical conditions, particularly for autistic individuals who are at risk for increased pain, hypermobility (including Ehlers-Danlos Syndrome) and gastrointestinal problems. However, data, so far, has been focused on adults and generally…
Descriptors: Physical Health, Comorbidity, Autism Spectrum Disorders, Attention Deficit Hyperactivity Disorder
Templer, Alexandra K.; Titus, Jeffrey B.; Gutmann, David H. – Journal of Attention Disorders, 2013
Cognitive problems are common in children with neurofibromatosis type 1 and they can often complicate treatment. The current literature review examines cognitive functioning in neurofibromatosis type 1, with a specific focus on executive functioning. This includes exploration of how deficits in executive functioning are expressed in children with…
Descriptors: Genetic Disorders, Neurological Impairments, Cognitive Ability, Cognitive Processes
