Research reportDegeneration of speech, language, and hearing in a patient with mucopolysaccharidosis VII☆
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Cited by (20)
Neuropsychology assessment and outcomes in adult mucopolysaccharidosis – A systematic review as the first step to service development in a large tertiary Lysosomal Storage Disorders centre
2023, Molecular Genetics and MetabolismCitation Excerpt :Yet adults with MPS have received limited attention in the literature, and hence little guidance exists on the clinical management of cognitive and psychological difficulties faced by these patients and their families. MPS I, II, III and VII involve progressive central nervous system (CNS) disease, causing cognitive impairment, behavioural abnormalities, sleep problems and/or seizures [3–9], psychosis, anxiety, depression, and autistic spectrum disorder [3,10]. Neuropsychological abnormalities and mental health problems have also been found in attenuated forms of MPS I, II, III [11], MPS IV and in MPS VI [12–15], and in some cases may still manifest significant cognitive impairments [16].
Issues of COVID-19-related distance learning for children with neuronopathic mucopolysaccharidoses
2021, Molecular Genetics and MetabolismTherapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints
2020, Molecular Genetics and MetabolismEpilepsy in mucopolysaccharidosis disorders
2017, Molecular Genetics and MetabolismPractical management of behavioral problems in mucopolysaccharidoses disorders
2017, Molecular Genetics and MetabolismCitation Excerpt :During this meeting, 39 experts reviewed and discussed existing relevant literature and clinical data on the management of behavioral problems in MPS disorders. MPS VII was not discussed during this meeting due to its extreme rarity [12] and will therefore not be the focus of this review. Relevant literature was further obtained from PubMed searches for “Child Behavior Disorders/therapy”[MeSH] AND “Mucopolysaccharidoses”[MeSH] (5 items), “Mental Disorders/therapy”[MeSH] AND “Mucopolysaccharidoses”[MeSH] (32 items), and “Mucopolysaccharidoses”[MeSH] AND “Behavior”[MeSH] (112 items).
Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses
2017, Molecular Genetics and MetabolismCitation Excerpt :In addition to a variety of somatic clinical manifestations that vary considerably between and within MPS types, patients with rapidly progressing/severe MPS I (Hurler [IH]), II (neuronopathic type), III, and VII (all associated with accumulation of heparan sulfate) show involvement of the central nervous system (CNS) [1,3,4]. CNS indicators include cognitive impairment in the forms of MPS mentioned above, and behavioral abnormalities, sleep problems, and/or seizures in select forms [1,4–11]. Because of the debilitating nature of cognitive impairment in MPS patients, and the substantial impact on the lives of both the patients and their families, it is considered a relevant symptom for improvement when developing therapies.
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Presented at the annual meeting of the Society for Ear, Nose and Throat Advances in Children, New York, December 1988.
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Deceased December 1989.