Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration

Kurt Freeman, A. Gregory, A. Turner, P. Blasco, P. Hogarth, S. Hayflick

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


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
Issue number6
StatePublished - Jun 2007


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

ASJC Scopus subject areas

  • Rehabilitation
  • Arts and Humanities (miscellaneous)
  • Neurology
  • Clinical Neurology
  • Psychiatry and Mental health


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