“Expanding the Phenotype of Triple X Syndrome: A Comparison of Prenatal Versus Postnatal Diagnosis” —This cross-sectional study was published in the American Journal of Medical Genetics. It describes the diagnosis, physical aspects, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Click here.
Guide to Trisomy X (booklet)
Date of Publication: 2011
Kathleen Erskine, a graduate student in the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College conducted a study to identify the important aspects of 47, XXX/ 3X/ Triple X/ Trisomy X to discuss with girls when they first learn about their Trisomy X diagnosis. The end result of this study is this educational booklet for parents to give their daughter when they first tell her about Trisomy X.
Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY
Tartaglia, Nicole R. MD; Ayari, Natalie BA; Hutaff-Lee, Christa PhD; Boada, Richard PhD
Please share this article with your healthcare providers and with other professionals (therapists, school support staff and administrators, etc.).
Published: June 13, 2014
1.) van Rijn S. et al. Genes Brain Behav. Epub ahead of print (2014)
2.) Bishop D.V. et al. Arch. Dis. Child 96, 954-959 (2011)
Girls and boys born with an extra X chromosome both tend to have difficulties understanding the minds of others, but for different reasons than children with autism do, according to a study published 22 March in Genes, Brain and Behavior1.
In people with autism, deficits in theory of mind — the ability to understand the emotions, intentions and desires of others — often accompany problems with language and facial recognition. By contrast, theory of mind deficits in people with an extra X chromosome are more likely to stem from an inability to pay attention, the study suggests.
Researchers have previously noticed parallels between autism and extra-X disorders. Men with two X chromosomes and a Y chromosome have Klinefelter syndrome and are six times more likely than controls to be diagnosed with autism. There is less information on autism rates in trisomy X, the condition in which girls have three X chromosomes rather than two. One study of 58 women with trisomy X found no autism cases, in keeping with the relative rarity of autism in women2.
The researchers recruited 29 children with Klinefelter syndrome, 17 with trisomy X, 56 with autism and 88 controls, all between the ages of 9 and 18 years. They excluded children with intellectual disability. They tested theory of mind in the children by asking them to identify the perspectives of characters in cartoon images with accompanying text. The children with extra-X disorders or autism all had a relatively difficult time doing so.
Multiple cognitive skills are necessary to conceive of others’ minds, so the researchers wondered whether the children were all having difficulties for the same underlying reasons. They found that in children with an extra X chromosome, performance on the theory of mind tasks tracks with their ability to sustain attention, indicating that their lack of focus sabotages their ability to understand others’ thoughts. Children with autism who struggle with theory of mind tend to have trouble comprehending and using language and recognizing faces.
Finally, the researchers assessed whether difficulties with theory of mind are more common in people with extra X disorders if they show strong signs of autism at an early age. They found that this is not the case. People with the extra-X disorders often show social difficulties, but they may not always meet the full criteria for autism.
By: Sophie van Rijn and Hanna Swaab
Published: February 12, 2015
Neuroimaging studies have shown that having an extra X chromosome is associated with abnormal structure and function of brain areas in the frontal lobe, which is crucially involved in executive functioning. However, there is little of knowledge of the type and severity of executive dysfunction, and the impact on emotional and behavioral problems. The present study aims to provide in this. In total, 40 children (23 boys with 47,XXY and 17 girls with 47,XXX) with an extra X chromosome and 100 non-clinical controls (47 boys and 53 girls) participated in the study. The participants were 9 to 18 years old. Processing speed and executive functioning were assessed using the Amsterdam Neuropsychological Testbattery (ANT) and the Dysexecutive Questionnaire (DEX). Problems in emotional and behavioral functioning were assessed with the Childhood Behavior Checklist (CBCL). Children with an extra X chromosome showed deficits in inhibition, mental flexibility, sustained attention and visual working memory. Parental report showed high levels of everyday manifestations of executive dysfunction. More severe inhibition difficulties were associated with higher levels of thought problems, aggression, and rule breaking behavior. Boys and girls with an extra X chromosome could not be differentiated based on severity of executive dysfunction, however girls had lower information processing speed than boys. These findings suggest that executive dysfunction may be part of the phenotype of children with an extra X chromosome, impacting the ability to function adequately in everyday life. Furthermore, children with impairments in inhibition may have more problems in regulating their thinking, emotions and behavior.
Dr. Sophie Van Rijn
Click on the following link to view the video presentation: https://vimeo.com/130199302