Executive Functioning Among the Karyotypes in Turner Syndrome and Implications for Interventions

Turner syndrome (TS) is a genetic disorder seen in phenotypically female (pf) individuals who have either a complete or partial absence of the second sex (X) chromosome. TS includes different karyotypes, and it presents with a variety of phenotypic and genotypic features. In general, the neuropsychological profiles for individuals diagnosed suggest that TS can contribute to challenges in various aspects of daily life, including social and emotional functioning. With regard to academic performances, individuals with TS often present with relative strengths in a range of verbal abilities and relative weakness in visual-spatial/perceptual abilities, nonverbal memory, motor function, processing speed, executive function, attentional abilities, and poor mathematics performance. Most studies of individuals with TS have noted variable executive functioning (EF) abilities. To date, there have been few studies of the relative EF strengths and weaknesses related to the specific karyotypes of TS. In order to clarify neurocognitive profiles among the different TS karyotypes, this study aimed to (a) review and analyze completed neuropsychological test data; (b) recode test data to aggregate specific EF components for comparison across karyotypes; and (c) identify distinct cognitive strengths and deficits in EF associated with TS so as to inform and promote early interventions and remediation that may improve educational and later life outcomes. This study presents descriptive statistics for the retrospective TS sample for each EF measure and domain. There was not sufficient evidence to support executive dysfunction in TS. However, over 50% of the retrospective sample was diagnosed with ADHD. Information on how to assess for executive functioning during a neuropsychological evaluation is included. As weaknesses in selective attention were found in the retrospective TS sample, appropriate interventions are included. Lastly, this study presents the recommendations put forth by the American Academy of Clinical Neuropsychology (AACN) regarding consistent labeling of test performance