Fig. 1.

Neurocognitive profile of female carriers of NHE6 mutations from Christianson syndrome (CS) pedigrees. a Neuropsychological assessments were performed on 13 female carriers from 7 CS pedigrees. Mean female carrier age was 30.1 ± 15.9 years, with a range of approximately 3 years to 55 years. Domains with mean z-scores less than −1.5 in female carriers were visuospatial function, attention, and executive function. Individual z-scores are represented by red dots and mean z-scores per domain are denoted by a black bar. The z-score range from 1.5 to −1.5 is shaded in light gray to represent a non-clinical range. b Distribution of visuospatial, attention, and executive function deficits across individual female carriers (n = 12 participants with impairments in at least one of these domains). Impairment spanning all domains was the most common.