Nearly two-thirds of people with Turner syndrome have features of autism, and almost one-quarter meet the diagnostic criteria for autism, a new study suggests.
Turner syndrome affects approximately 4 out of every 10,000 people assigned female at birth and is usually caused by a missing or mosaic X chromosome. The condition involves unique changes throughout the body, but the best-known features include short stature and ovarian dysfunction. Many people with this syndrome also have neurocognitive differences.
“Social differences have always been recognized,” says Jeanne Wolstencroft, Research Fellow and Principal Investigator at University College London, England. But for decades, many researchers have attributed these differences to the fact that girls with Turner syndrome are shorter than everyone else, more likely to be deaf, and more likely to be infertile. I thought there was.
The Turner syndrome girls Wolstencroft met aren’t so short that they struggle to make friends, but rather understand social rules that everyone else is “wired to understand.” Because she doesn’t.
People with Turner syndrome usually want to make friends, but struggle to maintain those relationships, especially as they get older and social rules become more complex. , he says, is “uncannily similar” to what is found in many autistic women and girls.
W.Olstencroft and her colleagues assessed autistic features in 127 girls with Turner syndrome aged 5 to 19 years based primarily on online parent interviews and surveys.
Approximately 61% of participants had autistic features that affected their daily social functioning, and 23% met diagnostic criteria for autism. Those with the most prominent autistic features were more likely to meet criteria for attention-deficit/hyperactivity disorder and anxiety, conditions that frequently coexist with autism. announced in May. women’s health.
“I think the results are plausible,” said Klaus Hoibjerg Gravholt, professor of endocrinology at Aarhus University in Denmark, who was not involved in the study. Still, he says, incorporating face-to-face assessments helped him refine his research even more.
Screening devices like the team’s used can identify people with autism who are not candidates for a clinical diagnosis, agreed David Soonil Hong, assistant professor of psychiatry and behavioral sciences at Stanford University in California. increase. He was not involved in this research. But that doesn’t mean the tools are useless, he says. Especially given how difficult it is to access comprehensive tests.
According to a large patient registry study dating back to 1969, approximately 2% of Turner syndrome patients in Sweden have a clinical diagnosis of autism. While this percentage may appear to be consistent with current U.S. prevalence estimates, there are actually more than four of him. Time found in study controls.
Skuse says he’s not surprised by the discrepancy between this low rate and the 23% found in a new study that estimated the prevalence of autistic traits rather than clinical conditions. Most people with Turner syndrome are identified as women, and women and girls have long struggled to access an autism diagnosis.
There is growing evidence that the X chromosome plays a major role in brain development, and individuals with Turner syndrome, who often lack a “backup” set of X-chromosome genes, are particularly susceptible to X-linked mutations and variants. can be sensitive. As such, Turner genetics could be of interest to scientists interested in gender differences in autism, Gravholt says.
Citing this article: https://doi.org/10.53053/DWPS8743