Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration

Title

Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration

Creator

Freeman K; Turner A; Gregory A; Hogarth P; Blasco P; Hayflick S

Publisher

Journal of Intellectual Disability Research

Date

2007

Subject

tone and motor problems; IND; trajectory; characteristics; adaptive behavior functioning

Description

BACKGROUND: Pantothenate kinase-associated neurodegeneration (PKAN), an extremely rare autosomal recessive disorder resulting in iron accumulation in the brain, has a diverse phenotypic expression. Based on limited case studies of one or two patients, intellectual impairment is considered part of PKAN. Investigations of cognitive functioning have utilized specific neuropsychological tests, without attention to general intellectual skills or adaptive behaviour. METHODS: Sixteen individuals with PKAN completed measures of global intellectual functioning, and participants or care providers completed measures of adaptive behaviour skills and day-to-day functional limitations. Clinicians provided global ratings of condition severity. RESULTS: Testing with standardized measures documented varied phenotypic expression, with general cognitive skills and adaptive behaviour ranging from high average to well below average. Age of disease onset correlated with measures of intellectual functioning, adaptive functioning and disease severity. CONCLUSIONS: Findings support previously described clinical impressions of varied cognitive impairment and the association between age of onset and impairment. Further, they add important information regarding the natural history of the disease and suggest assessment strategies for use in treatment trials.

Rights

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Citation

Freeman K; Turner A; Gregory A; Hogarth P; Blasco P; Hayflick S, “Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration,” Pediatric Palliative Care Library, accessed May 26, 2024, https://pedpalascnetlibrary.omeka.net/items/show/16659.