Untitled

Abstract

Social skills impairment in children with Turner or fragile X syndrome has been documented using parental reports. Anxiety, shyness, and difficulty understanding social cues have been reported for females with Turner syndrome; whereas social withdrawal, avoidance of social interactions, and anxiety are often reported for females with fragile X syndrome. Social interaction anxiety in these two populations may be a framework for understanding the difficulty these children experience in social situations. In the present study, 29 females with Turner syndrome and 21 females with fragile X syndrome ages 6-22 years were compared to females in a comparison group, on a videotaped role-play interaction. Behavioral indices examined included eye-contact maintenance, duration of speech, and body discomfort as observed during the brief interaction. Three of eight such behavioral measures of social skills differentiated the participant groups from each other. Specifically, participants with fragile X required more time to initiate interactions than did participants in either of the remaining groups; and females with Turner syndrome made fewer facial movements than did females in the fragile X or comparison group. Self-report and parental ratings did not suggest higher levels of anxiety in females with Turner or fragile X syndrome, but did reflect higher levels of social difficulty. The authors discuss these findings in terms of understanding the nature of social dysfunction in females with Turner or fragile X syndrome.

Number of X-chromosome genes influences social behavior and vasopressin gene expression in mice

“…Both of these diseases are more commonly diagnosed in males than in females (Giarelli et al, 2010), but the underlying causes of these sex differences are unclear. ADHD and ASD are also more prevalent in girls with Turner syndrome than normal girls (Lesniak-Karpiak et al, 2003; Russell et al, 2006). Interestingly, our human data, albeit from a small population, suggest dysregulation of AVP in Turner syndrome patients.…”

“…Autism spectrum disorders (ASD) are one example of such gender dimorphism in human disease, as ASD is diagnosed five times more commonly in males than in females (Giarelli et al, 2010). Several sex chromosome genes, particularly on the X-chromosome, are implicated in neurobehavioral disorders (Raymond, 2006) and patients with Turner (45, XO) and Klinefelter syndrome (47, XXY), two of the most common sex chromosome aneuploidies, have a higher incidence of psychological dysfunction and autism than the general population (Lesniak-Karpiak et al, 2003; Russell et al, 2006; van Rijn et al, 2006). …”

Mouse model systems to study sex chromosome genes and behavior: Relevance to humans

“…Klinefelter Syndrome (47,XXY) is the most common sex aneuploidy disorder and occurs in 1 out of every 1,000 to 600 men (Savic, 2012), while Turner Syndrome (45,X) affects approximately 1 in every 2,000 women (Elsheikh et al , 2002). In these syndromes gonadal and chromosomal sex are concordant; however, patients may have cognitive and social behavioral phenotypes (Lesniak-Karpiak et al , 2003; Schmidt et al , 2006). The data collected in mice may lead to predictions about genes on sex chromosomes that affect behavior in humans.…”

“…In addition, males with three sex chromosomes (XXY or XYY) can have behavioral problems and low IQs (van Rijn et al , 2006), and XXY (Klinefelter Syndrome) boys are diagnosed with autism spectrum disorders, schizophrenia, affective disorders, and language disabilities more often than XY boys (Savic, 2012). Likewise, XO females (Turner Syndrome) have variable behavioral phenotypes but are often described as socially immature or fearful (Elsheikh et al , 2002; Lesniak-Karpiak et al , 2003). These are very common diseases, ranging in incidence from 1:2,500 (Turner) to 1:600–1,000 (Klinefelter), which highlights the potential clinical applications of research using mouse models of sex chromosome aneuploidy, as well as models that isolate the behavioral actions of sex chromosome genes from actions of hormones.…”

Gene, brain, and behavior relationships in fragile X syndrome: Evidence from neuroimaging studies

“…Thus, their trajectory of development becomes increasingly divergent from what is typical for a particular age [Hall et al, 2008a]. Hallmark behavioral symptoms in FraX consist of gaze aversion, hyperactivity, inattention, impulsivity, social difficulties including some behaviors similar to those observed in idiopathic autism, anxiety and hyperarousal, and sometimes depression in females [Mazzocco et al, 1994, 1998; Baumgardner et al, 1995; Munir et al 2000b; Keysor and Mazzocco, 2002; Lesniak-Karpiak et al, 2003; Farzin et al, 2006; Hall et al, 2006, 2008b; Hatton et al, 2006; Hessl et al, 2006; Sullivan et al, 2006; Murphy et al, 2007; Hooper et al, 2008]. …”