TY - JOUR
T1 - The neuropsychological function of children with achondroplasia
AU - Wigg, Kimberley
AU - Tofts, Louise
AU - Benson, Suzanne
AU - Porter, Melanie
PY - 2016/11/1
Y1 - 2016/11/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84991448201&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.37779
DO - 10.1002/ajmg.a.37779
M3 - Article
C2 - 27605460
AN - SCOPUS:84991448201
VL - 170
SP - 2882
EP - 2888
JO - American Journal of Medical Genetics. Part A
JF - American Journal of Medical Genetics. Part A
SN - 1552-4825
IS - 11
ER -