Fragile X Premutation Detection

If this is the first time you have heard of Fragile X Syndrome,  it is highly recommended that you go on reading. Also called FXS, marker X syndrome or Martin-Bell syndrome, it is the most common cause of genetically inherited intellectual disability which includes a range of cognitive impairment and learning disabilities. Across the world millions of Fragile X carriers are oblivious and unaware of their condition. Permutations remain undetected and unidentified, and people are uninformed about their increased health risks including neurodegenerative disorders, infertility and giving birth to children with disability as a result of the Fragile X mutation.

In a recent study conducted by researchers at the University of Wisconsin (UW) – Madison’s Wiseman Center and Wisconsin Institute for Discovery shows that information can be extracted from a five-minute voice recording sufficient enough to determine whether an individual is genetically predisposed to certain health complications. Because genetic testing for the permutation takes a lot of time and is resource intensive, researchers used machine learning, a form of artificial intelligence, to analyze voice recordings and identify Fragile X carriers with 81% accuracy. Marsha Mailick, professor of social work, UW – Madison vice chancellor for research and graduate education and co-author of the study says, “Our group of researchers wanted to develop a method to quickly and cost-effectively screen for this condition.” Voice recording analysis through machine learning-based screening has been the focus of the group’s study. Initial machine algorithms were designed and implemented to identify mothers who are Fragile X premutation carriers and those who are not. As the group made the first step toward a faster and more cost-effective screening process, they are also planning to expand their study to include other populations like men with Fragile X premutation.

Although the exact number of people with Fragile X syndrome is unknown, it is estimated that 1 in 4000 males and 1 in 8000 females are afflicted by this condition at birth;males are usually more severely affected than females, who often have milder symptoms compared to males. Individuals with FXS generally have delayed speech and language development by age 2 and may have anxiety, attention deficit disorder (ADD) or exhibit hyperactivity such as fidgeting or impulsive behavior. Fragile X is identifiable, hence early identification and evaluation is crucial in providing the best treatments for the symptoms of the condition, as well as diagnosis of associated disorders. Here are some myths about FXS that you should know about.

• Individuals with FXS have large ears and long, narrow faces.

Myth. Some people with FXS have these features and are usually seen in younger children, but for some it does not show up until puberty, if at all. Not everyone who has FXS has these physical traits.

2. I can get my unborn child tested for FXS while I am pregnant or right after birth.

Myth. A special blood test called “FMR1 DNA Test for fragile X” is required to diagnose Fragile X Syndrome, and it is excluded both in the genetic tests for pregnant women and tests done after a baby is born.

3. Both girls and boys can be born with FXS.

Fact. FXS symptoms can range from mild to severe, and affect both boys and girls; however, boys usually exhibit more severe symptoms compared to girls.