Cognitive and motor development during childhood in boys with Klinefelter syndrome.
The goal of this study was to expand the description of the cognitive development phenotype in boys with Klinefelter syndrome (47,XXY). We tested neuropsychological measures of memory, attention, visual-spatial abilities, visual-motor skills, and language. We examined the influence of age, handedness, genetic aspects (parental origin of the extra X chromosome, CAG(n) repeat length, and pattern of X inactivation), and previous testosterone treatment on cognition. We studied 50 boys with KS (4.1-17.8 years). There was a significant increase in left-handedness (P = 0.002). Specific language, academic, attentional, and motor abilities tended to be impaired. In the language domain, there was relative sparing of vocabulary and meaningful language understanding abilities but impairment of higher level linguistic competence. KS boys demonstrated an array of motor difficulties, especially in strength and running speed. Deficits in the ability to sustain attention without impulsivity were present in the younger boys. Neither genetic factors examined nor previous testosterone treatment accounted for variation in the cognitive phenotype in KS. The cognitive results from this large KS cohort may be related to atypical brain lateralization and have important diagnostic and psychoeducational implications. The difficulty in complex language processing, impaired attention and motor function in boys with KS may be missed. It is critical that boys with KS are provided with appropriate educational support that targets their learning challenges in school in addition to modifications that address their particular learning style. These findings would also be an important component of counseling clinicians and families about this disorder.
Ross
Judith L
JL
Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA. judith.ross@mail.tju.edu
Roeltgen
David P
DP
Stefanatos
Gerry
G
Benecke
Rebecca
R
Zeger
Martha P D
MP
Kushner
Harvey
H
Ramos
Purita
P
Elder
Frederick F
FF
Zinn
Andrew R
AR
D000293:Adolescent; D001288:Attention / Q000502:physiology; D016022:Case-Control Studies; D002648:Child; D002657:Child Development / Q000502:physiology*; D002675:Child, Preschool; D003071:Cognition / Q000502:physiology*; D004521:Educational Measurement; D007839:Functional Laterality / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics / Q000503:physiopathology*; D007804:Language Development; D008297:Male; D008568:Memory / Q000502:physiology; D009043:Motor Activity / Q000502:physiology*; D009048:Motor Skills; D011581:Psychological Tests; D011597:Psychomotor Performance / Q000502:physiology