Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration

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24 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)417-426
Number of pages10
JournalJournal of Intellectual Disability Research
Volume51
Issue number6
DOIs
StatePublished - Jun 2007

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Pantothenate Kinase-Associated Neurodegeneration
Psychological Adaptation
Disease
Age of Onset
Neuropsychological Tests
brain
Iron
rating
Brain
history
Impairment
Onset
Therapeutics

Keywords

  • Brain iron accumulation
  • Cognitive functioning
  • Functional skills
  • Pantothenate kinase-associated neurodegeneration

ASJC Scopus subject areas

  • Genetics
  • Health Professions(all)
  • Rehabilitation
  • Genetics(clinical)
  • Education
  • Neurology
  • Clinical Neurology
  • Psychiatry and Mental health

Cite this

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title = "Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration",
abstract = "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.",
keywords = "Brain iron accumulation, Cognitive functioning, Functional skills, Pantothenate kinase-associated neurodegeneration",
author = "Kurt Freeman and Allison Gregory and A. Turner and Peter Blasco and Hogarth, {Penelope (Penny)} and Susan Hayflick",
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T1 - Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration

AU - Freeman, Kurt

AU - Gregory, Allison

AU - Turner, A.

AU - Blasco, Peter

AU - Hogarth, Penelope (Penny)

AU - Hayflick, Susan

PY - 2007/6

Y1 - 2007/6

N2 - 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.

AB - 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.

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KW - Cognitive functioning

KW - Functional skills

KW - Pantothenate kinase-associated neurodegeneration

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