Project explores challenges of Rett syndrome for boys, their families
Researchers hope to raise awareness, improve diagnosis of the disorder in boys
A new study aims to raise awareness about Rett syndrome in boys and explore how the disorder affects them and their families.
The project is being led by Talia Thompson, PhD, and Timothy Benke, MD, PhD, both professors at the University of Colorado. It’s funded by the International Rett Syndrome Foundation and Rocky Mountain Rett Association.
“There is a growing population of families with boys who have Rett syndrome, and they are desperate for inclusion in Rett syndrome research and care,” Thompson said in a university news story.
Rett syndrome is a genetic disorder that causes symptoms including behavioral abnormalities and difficulties with communication. The disorder is chiefly caused by mutations in a gene called MECP2 on the sex-determining X chromosome, and it mainly affects girls. As a result, Rett syndrome in boys is understudied and poorly understood, and boys with the condition are often not correctly diagnosed, which can lead to problems getting the appropriate treatments and supportive interventions.
Families of boys with Rett often socially isolated
Families of boys with Rett syndrome are “often isolated socially,” Thompson said, though “there is community developing online.”
To understand how Rett syndrome affects boys and their families, researchers carried out a survey as well as interviews of dozens of affected families.
“It was a two-pronged approach, including a quantitative survey to understand the clinical characteristics and the neurodevelopmental outcomes in these boys with Rett syndrome, and also a qualitative aim to conduct in-depth interviews with families to understand how they’re coming to this diagnosis and what it’s like to be them,” Thompson said.
Dennis Gurfinkel, principal qualitative analyst who conducted interviews, said the researchers “heard a lot of experiences around the difficulties of dealing with the medical community, experiences of isolation, and the importance of finding community once they finally find the male Rett groups.”
By expanding understanding of Rett syndrome in boys and raising awareness among clinicians, the researchers hope to make the journey easier for families. They are presenting their findings at medical conferences and are also partnering with scientists at other institutions to help train a new generation of clinicians to provide care for Rett families.
“It’s an understudied topic, and there are not a lot of people with expertise,” Thompson said. “We want to improve the actual delivery of the diagnosis because it can be insensitive when doctors are unaware that males can be diagnosed. That can be really unsettling to a family.”
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