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  • Title: Ullrich-Turner syndrome: neurodevelopmental changes from childhood through adolescence.
    Author: Ross JL, Stefanatos G, Roeltgen D, Kushner H, Cutler GB.
    Journal: Am J Med Genet; 1995 Jul 31; 58(1):74-82. PubMed ID: 7573160.
    Abstract:
    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.
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