Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration.

Full 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.

Author information

Author/s: Freeman, K (K); Gregory, A (A); Turner, A (A); Blasco, P (P); Hogarth, P (P); Hayflick, S (S);

Affiliation: Child Development and Rehabilitation Center, Portland, OR, USA. freemaku(-atsign-)ohsu.edu

Grants: 5 M01 RR000334 (Agency:NCRR NIH HHS) ; M01 RR000334-390677 (Agency:NCRR NIH HHS) ; R01 EY012353-07 (Agency:NEI NIH HHS) ; R01EY12353 (Agency:NEI NIH HHS)

Journal and publication information

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal: Journal of intellectual disability research : JIDR (J Intellect Disabil Res), published in England. (Language: eng)

Reference: 2007-Jun; vol 51 (issue Pt. 6) : pp 417-26

Dates: Created 2007/05/11; Completed 2007/07/25; Revised 2008/11/20;

PMID: 17493025, status: MEDLINE (last retrieval date: 2/18/2009, IMS Date: )

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