2026-10-07T12:49:48Z https://api.figshare.com/v2/oai

oai:figshare.com:article/34068931 2026-10-05T09:35:53Z category_146 category_7 category_13 category_15 category_19 category_21 portal_87 item_type_3 month_year_10_2026

Rehabilitation management of children with hereditary spastic paraplegia: a retrospective cohort study Simon P. Paget (11530505) Sarah McIntyre (306151) Jenny Lewis (6495134) Shekeeb Mohammad (21282833) Yana Wilson (25311193) Shona Goldsmith (6857165) Kirsty Stewart (8769206) Space Science Medicine Genetics Neuroscience Pharmacology Biotechnology Baclofen botulinum toxin rehabilitation spasticity hereditary spastic paraplegia <p>Hereditary spastic paraplegia (HSP) is a group of rare, genetically heterogeneous neurodegenerative conditions characterized by progressive lower limb spasticity. In children, rehabilitation management of HSP is commonly extrapolated from cerebral palsy practice, despite differences in etiology and disease progression. There is limited condition-specific evidence to guide rehabilitation clinical decision-making in pediatric HSP.</p> <p>A retrospective cohort study of children with HSP attending a tertiary hospital rehabilitation service (May 2018 – August 2024). Children were classified as pure or complex HSP based on clinical features. Genetic, neuroimaging, and rehabilitation data were ascertained through medical record review. Rehabilitation management was characterized across three domains: botulinum toxin type A (BoNT-A), oral baclofen, and orthopedic surgery. Treatment discontinuation rates and reasons were recorded. Treatment profiles were compared between pure and complex HSP phenotypes.</p> <p>Thirty-one children were included (pure HSP <i>n</i> = 16; complex HSP <i>n</i> = 15; 48.4% female). Motor decline was observed in both pure and complex HSP phenotypes (22.6%, <i>n</i> = 7 children). BoNT-A was administered to 77.4% (<i>n</i> = 24) of the cohort, with a median of 4.5 (interquartile range 2–9) treatment episodes; however, 75% of treated children (<i>n</i> = 18) ceased BoNT-A, half (<i>n</i> = 9) due to perceived inefficacy and half (<i>n</i> = 9) due to escalation to surgery or intrathecal baclofen. Oral baclofen was prescribed to 67.7% (<i>n</i> = 21) of the cohort with 47.6% (<i>n</i> = 10) discontinuing, predominantly due to side effects or perceived inefficacy. Orthopedic surgery was undertaken in 45.2% of the cohort. Treatment profiles were broadly similar between pure and complex phenotypes.</p> <p>In this tertiary rehabilitation setting, spasticity interventions were commonly used in children with HSP but were frequently discontinued due to limited perceived benefit or tolerability, or escalation to orthopedic surgery or intrathecal baclofen. These findings highlight the need for cautious extrapolation from non-progressive conditions, systematic review of treatment response over time, and a rehabilitation approach that accounts for the progressive nature of pediatric HSP.</p> 2026-10-05T09:35:53Z Dataset Dataset 10.6084/m9.figshare.34068931.v1 https://figshare.com/articles/dataset/Rehabilitation_management_of_children_with_hereditary_spastic_paraplegia_a_retrospective_cohort_study/34068931 CC BY 4.0