Transition to young adulthood in Ullrich-Turner syndrome: Neurodevelopmental changes

Abstract

Studies describing the neurocognitive profile of Ullrich-Turner syndrome (UTS) have focused primarily on neurodevelopmental changes in childhood and adolescence or in adults with UTS. The objective of the present study was to describe neurodevelopmental changes that occur in UTS females during the transition from adolescence to young-adulthood. The subjects included 99 females with UTS and 89 normal female controls matched for age and socioeconomic status. Subjects were between the ages of 13 and 21 years. All subjects received a battery of neurocognitive tests designed to assess general cognitive ability, academic achievement, memory, language, executive function, visual-spatial/perceptual and motor skills, affect recognition, attention, and motor skills. Results from our study indicated that females with UTS performed significantly less well than controls on measures of spatial/perceptual skills, visual-motor integration, affect recognition, visual memory, attentional abilities, and executive function, consistent with previous reports of cognitive abilities in adolescent UTS females. Moreover, our results indicate that decreased performance in some of these areas persists through late adolescence and into early adulthood while improvement occurs in other areas. It is possible that catch-up in certain cognitive deficiencies in UTS females represents a maturational/developmental lag. Alternatively, the neurodevelopmental changes that were observed in UTS females may result from the cumulative effects of estrogen replacement therapy during adolescence. Therapeutic interventions specific to the demands of young-adulthood are also discussed.

Annotation: The Cognitive Neuroscience of Face Recognition: Implications for Developmental Disorders

“…The age-equivalent scores the girls achieved on this task differed by 6 years. This result has been replicated in larger groups of individuals with TS when compared to control groups (Romans, Stefanatos, Roeltgen, Kushner, & Ross, 1998 ;Ross, Kushner, & Zinn, 1997 ;Ross, Stefanatos, Roeltgen, Kushner, & Cutler, 1995).…”

Cognition, Emotions and Quality of Life in Lithuanian Girls with Turner Syndrome after Growth Hormone Therapy Discontinuation

“…Researchers support the hypothesis that girls with TS have a neurocognitive profile consisting of visual-spatial information processing deficits in the context of relatively preserved verbal skills; exhibits difficulty with tasks of left/right discrimination, mental rotation, line orientation and integration of motor and visual/perceptual skills (Reiss et al, 1995;Romans et al, 1998). Also data of some studies show that girls with TS have an atypical form of attention deficit disorder in many affected individuals (Williams et al, 1991).…”

Social cognition in Turner’s Syndrome

“…27 This finding supports earlier work identifying facial recognition and ''fear" and ''surprise" recognition deficits in adolescents and young women of mixed TS karyotype. 28 Lawrence et al's (2003) results indicate that alterations in processes other than visuospatial processing impair memory for faces in women with TS, as PIQ did not covary significantly with recognition and processing style appeared not to differ from the TS participants to controls. These researchers proposed that the neural circuitry underlying learning and memory for faces was anomalous, and suggested that abnormalities in the amygdala and hippocampal region were contributory.…”