The neuropsychological function of children with achondroplasia.
The current observational study had three specific objectives: (i) to document any neuropsychological impairment in a sample of children with achondroplasia; (ii) to explore individual variability; and (iii) to determine the functional impact of any impairments. Fourteen children aged between 6 and 15 years with a medically confirmed diagnosis of achondroplasia (FGFR 3 mutation positive) underwent a comprehensive standardized neuropsychological evaluation. On average, while generally still within normal limits, significantly lower scores compared to standardized means were identified on: Full-scale IQ, verbal IQ, working memory, arithmetic, attention, executive functioning and aspects of day-to-day emotional, social, and behavioral functioning. Clinically significant levels of impairment at a group level were identified on measures of: arithmetic, attention, and executive functioning. There was variability among the group and for most measures scores ranged from impaired to within normal limits. A high percentage of children were impaired on measures of: verbal IQ, attention and executive functioning. Results of this study suggest a need for individual neuropsychological evaluation and monitoring of children with achondroplasia and suggest verbal IQ, arithmetic, attention, and executive functioning are particularly common areas of impairment. © 2016 Wiley Periodicals, Inc.
Department of Psychology, Macquarie University, NSW, Australia.
Kimberley
K
Wigg
Kids Rehab, The Children's Hospital at Westmead, NSW, Australia.
Louise
L
Tofts
Department of Psychology, Macquarie University, NSW, Australia.|Kids Rehab, The Children's Hospital at Westmead, NSW, Australia.
Suzanne
S
Benson
Kids Rehab, The Children's Hospital at Westmead, NSW, Australia. melanie.porter@mq.edu.au.|Faculty of Human Sciences, Centre for Research Into Atypical Neurodevelopment, Macquarie University, NSW, Australia. melanie.porter@mq.edu.au.
Melanie
M
Porter
D000130:Achondroplasia / Q000175:diagnosis / Q000503:physiopathology* / Q000523:psychology* / Q000628:therapy; D000293:Adolescent; D001288:Attention; D002648:Child; D002675:Child, Preschool; D003071:Cognition; D056344:Executive Function; D005260:Female; D006801:Humans; D007360:Intelligence; D008297:Male; D008568:Memory; D009483:Neuropsychological Tests; D010641:Phenotype
achondroplasia; behavior; cognition; neuropsychological profile