Psychosocial Characteristics of Women with a Delayed Diagnosis of Turner Syndrome.

OBJECTIVES: To characterize the psychosocial profiles of adult women diagnosed with Turner syndrome before (early diagnosis) and at or after (late diagnosis) 13 years of age. STUDY DESIGN: Women with Turner syndrome ages 22 and older at evaluation (n = 110) participated in a cross-sectional study at the National Institutes of Health. Researchers performed nonparametric and logistic regression analyses to assess early and late diagnosis cohorts on measures of depression, substance use, and perceptions of competence and identity. RESULTS: Of study participants, 47% received a Turner syndrome diagnosis at or after age 13 years. Median age at diagnosis was 12.0 years (range, 0-43). Covariate-adjusted models revealed that women with late diagnoses had an increased likelihood of developing mild to severe depressive symptoms (OR, 7.36) and a decreased likelihood of being perceived as competent (OR, 0.26). Women with a late diagnosis also exhibited more frequent substance use compared with women with early diagnoses. CONCLUSIONS: These data suggest that Turner syndrome diagnoses received at or after age 13 years may contribute to adverse outcomes related to depression, substance use, and perceptions of competence. Delayed Turner syndrome diagnoses may place women and girls at risk for negative psychosocial development extending into adulthood. These findings indicate it is important for pediatricians to evaluate psychosocial domains in girls with Turner syndrome regularly, particularly among those diagnosed at age 13 years or older. TRIAL REGISTRATION: ClinicalTrials.gov: NCT00006334.

Cognitive Functioning in Turner Syndrome: Addressing Deficits Through Academic Accommodation.

Background: The cognitive profile of Turner syndrome, a genetic disorder resulting from partial or complete X-chromosome deletion, presents characteristic deficits. Despite this, studies have yet to evaluate how deficits translate into and are compensated for in academic settings. This study seeks to explore cognitive functioning, as well as the accessibility and development of academic accommodations in females with Turner syndrome from adolescence to adulthood. Materials and Methods: This cross-sectional study took place at the National Institutes of Health. Females with Turner syndrome (age range: 10-68; n = 142) were evaluated on need for and procurement of academic accommodations. Cognitive functioning was evaluated in participants aged 20 years and older (n = 101), as per the age validation of the Repeatable Battery for the Assessment of Neuropsychological Status. Data were analyzed using descriptive statistics, one-sample comparisons, and analyses of variance. Results: Females with Turner syndrome scored significantly lower than the normative population on visuospatial (p < 0.001), delayed memory (p < 0.001), and overall (p < 0.001) functioning. About 25.9% of participants reported that accommodations were not needed, despite displaying one or more cognitive deficits. Approximately 12.7% reported needing but not receiving accommodations, however, this is only reported by females 30 years and older; no females aged 10-29 years indicated this discrepancy. Conclusions: Findings suggest that procurement of academic accommodations has increased within recent decades. Still, there is a discrepancy between those displaying cognitive deficits and those receiving academic accommodations. We highlight frequently received accommodations so that students and professionals can target deficits with appropriate accommodations.