Behavioral and psychological features in girls and women with triple‐X syndrome

Abstract

Triple-X syndrome is a common sex chromosome aneuploidy, which appears in 1 out of 1,000 females. The aim of our study was to describe the behavioral features of a large group of girls and women with triple-X in comparison to a control group. A total of 72 subjects with triple-X and 69 subjects of an age-matched control group were included. Psychological and behavioral questionnaires were allocated to three age groups, representing a range of ages from young childhood to adulthood. Regarding the females between 4 and 7 years of age, we found significant differences for social problems, attention problems, and school performance. For the age group 8-17 years, we found larger significant differences for the majority of the scales listed in the child behavior checklist. The most significant differences (p < .001) were from total behavior problems, internalizing problems, and four other scales. Young females with triple-X have significantly lower general self-esteem, especially concerning school and family. In the adults, there were significant differences concerning psychological symptoms and distress, with higher scores in the triple-X subjects. Regardless, their mean scores were still in the normal range. We did not find clinical evidence for more than 50% of the triple-X females in any age group, indicating that approximately half of them do not have behavioral problems, and that more than 60% do not differ in their competence from the control group. However, our findings suggest that triple-X influences mental health and the overall well-being of the individuals across their whole life spans.

Autism and social anxiety in children with sex chromosome trisomies: an observational study

“…However, the SRS also confirmed the wide range of outcomes in all three trisomies, with around half the children in the Low Bias group scoring within the normal range. In this regard, our results are compatible with those of a recent study by Freilinger et al (2018), who studied behavioural and psychological features in a sample of 72 girls and women with trisomy X, most of whom were diagnosed prenatally. They found that around half of them did not have behavioural problems.…”

“…Methods, participants, second-last sentence: “An unexpected feature (…) was that the majority of girls with trisomy X were in the Low Bias subgroup…” This observation is far from trivial – for example, with respect to genetic counseling – and better to be placed in the discussion. A recent paper by Freilinger and colleagues (2018) 1 might help to sort out whether the feature addressed here is really to be classified as “unexpected”.…”

“…I have minor suggestions to improve this paper: Abstract, background: The word “is” is missing somewhere in this sentence.Abstract, results, third sentence: “…gave odds ratios (Plural)…”Methods, participants, second-last sentence: “An unexpected feature (…) was that the majority of girls with trisomy X were in the Low Bias subgroup…” This observation is far from trivial – for example, with respect to genetic counseling – and better to be placed in the discussion. A recent paper by Freilinger and colleagues (2018) 1 might help to sort out whether the feature addressed here is really to be classified as “unexpected”.Figure 2: Please specify the meaning of the solid and the dotted lines in the legend.Figures 3 and 4: Since these two figures represent some kind of summaries, I would recommend to reword the legends in a way that these summaries are understandable even without the context of the paper; i.e., add some more information.Discussion: Please be more concrete of how the information presented in this manuscript could help clinicians in the process of genetic counseling.…”

Social functioning and emotion recognition in adults with triple X syndrome

“…2,5 Therefore, how the phenotype develops when these women reach adulthood is largely unknown, although in a small biased sample, emotional problems, increased levels of anxiety, low self-esteem and social problems were reported. 6 The phenotype of adults with TXS appears to not be very distinct, illustrated by the fact that they are typically diagnosed after, for example, recurrent abortions or diagnosis of a family member. As a result, cases can go undiagnosed, even in our clinical practice.…”

“…24 Furthermore, recent studies found that girls with TXS have higher levels of shyness, social dysfunction and social anxiety, and a high prevalence of autism-like features. 25,26 Moreover, a recent self-report study, in which adults with TXS used the Symptom Checklist-90 Revised, found that women with TXS have an increased risk of social deficits, although approximately half of the participants did not report any behavioural or social deficits 6 ; in contrast, approximately one in 200 women in the general population have ASD. 14 Moreover, the Symptom Checklist-90-Revised is not considered a suitable tool for diagnosing or ruling out ASD.…”