Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome

Mental health and neurodevelopment in children and adolescents with Turner syndrome

“…We did not have any information on the parental origin of the intact X-chromosome in this sample. Recent research from observation paradigms in social gaze impairments 10 and from neuroimaging studies on brain development trajectories 46 support imprinting effects, as do studies of X-monosomic mice. 47 …”

“…Both Creswell and Skuse 6 and a recent Swedish patient registry study found an increased risk of clinically significant ASD in girls and women with TS. 7 Traits of autism have also been documented by several investigations [8][9][10] using tools such as the Autism Diagnostic Interview, 6 the Childhood Autism Rating Scale 11 and the Social Responsiveness Scale. [8][9][10] Nonetheless, there is controversy about the basis of social difficulties associated with the syndrome, which some have attributed to excessively short stature, unusual physical appearance or social anxiety rather than a fundamental impairment in the processing of social cues.…”

“…7 Traits of autism have also been documented by several investigations [8][9][10] using tools such as the Autism Diagnostic Interview, 6 the Childhood Autism Rating Scale 11 and the Social Responsiveness Scale. [8][9][10] Nonetheless, there is controversy about the basis of social difficulties associated with the syndrome, which some have attributed to excessively short stature, unusual physical appearance or social anxiety rather than a fundamental impairment in the processing of social cues. 2,12 Obtaining a better understanding of autistic traits in TS is of clinical importance: there is increasing recognition that such traits are also often overlooked in typically developing girls and young women.…”

Turner syndrome: fertility counselling in childhood and through the reproductive lifespan

“…Although women with a low level of 45,X and mosaicism for 46,XX may be less severely affected and more likely to have spontaneous menses and pregnancy, karyotype does always not predict phenotype [9]. Complex molecular interactions, including imprinting [11 ▪ ], genome-wide hypomethylation [12], differential gene expression [13] and transcriptome [14 ▪ ] effects likely contribute to the heterogeneous clinical features of Turner syndrome, complicating our ability to predict specific manifestations based on karyotype alone. Overall mortality rates are increased approximately three-fold in women with Turner syndrome compared with the general population.…”