Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration.
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.
Freeman
K
K
Child Development and Rehabilitation Center, Portland, OR, USA. freemaku@ohsu.edu
Gregory
A
A
Turner
A
A
Blasco
P
P
Hogarth
P
P
Hayflick
S
S
D000203:Activities of Daily Living; D000223:Adaptation, Psychological / Q000502:physiology*; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D001927:Brain Diseases / Q000201:enzymology / Q000235:genetics / Q000523:psychology*; D002648:Child; D003071:Cognition; D005260:Female; D015971:Gene Expression Regulation, Enzymologic / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics / Q000523:psychology*; D007360:Intelligence; D007361:Intelligence Tests / Q000706:statistics & numerical data; D008297:Male; D008875:Middle Aged; D009922:Oregon; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000201:enzymology / Q000235:genetics / Q000523:psychology*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D035583:Rare Diseases; D012720:Severity of Illness Index
D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase