Ullrich-Turner syndrome: neurodevelopmental changes from childhood through adolescence.
Our objective was to investigate whether the previously-described neurocognitive pattern in girls with Ullrich-Turner syndrome is found in childhood and adolescence; we used a prospective, controlled study of neurocognitive development in girls with Ullrich-Turner syndrome. The patients included 56 girls with Ullrich-Turner syndrome, and 100 normal age- and verbal IQ-matched female control subjects, whose ages ranged from 6-14 years. All girls with Ullrich-Turner syndrome and the normal control girls received a battery of neurocognitive tests designed to evaluate the following domains: general cognition, memory, academic achievement, language, visual-spatial/perceptual skills, visual-motor skills, attention, and affect recognition. Our results demonstrated consistent findings in Ullrich-Turner syndrome girls across the age range studied. In general, the Ullrich-Turner girls resembled control subjects in terms of verbal and language abilities. We found relatively depressed performance IQ and a significant verbal IQ-performance IQ difference. Significant differences were observed on examination of nonverbal abilities. The Ullrich-Turner girls performed more poorly than control girls on 1) tests of visual-motor skills including the Beery Test of Visual-Motor Integration, the Perceptual Organization Factor, and the Rey-Osterrieth Figures; 2) tests of visual-spatial skills, including the Motor-Free Visual Perception Test; 3) tests of attention, including the Freedom From Distractibility Factor; and 4) the Affective Prosody Affect Recognition Test. Ullrich-Turner subjects showed evidence of multifocal or diffuse right cerebral dysfunction and deficits generally involving nonverbal skills that may be due to X chromosome monosomy, gonadal dysgenesis, or both. Future studies will examine the role of estrogen replacement on cognitive function in Ullrich-Turner syndrome individuals.
Ross
J L
JL
Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19107, USA.
Stefanatos
G
G
Roeltgen
D
D
Kushner
H
H
Cutler
G B
GB
D000293:Adolescent; D000339:Affect; D000367:Age Factors; D000704:Analysis of Variance; D001288:Attention; D002648:Child; D003071:Cognition; D005260:Female; D006801:Humans; D007621:Karyotyping; D007802:Language; D008568:Memory; D009483:Neuropsychological Tests; D009634:Noonan Syndrome / Q000235:genetics / Q000503:physiopathology* / Q000523:psychology*; D011597:Psychomotor Performance; D012016:Reference Values; D012729:Sex Chromosome Aberrations; D014960:X Chromosome