What is Fragile X Syndrome?

Unless it runs in your family, you may not have heard of the genetic condition Fragile X. Children born with this syndrome experience moderate intellectual disability, autism, attention-deficit hyperactivity disorder and anxiety. Some people with Fragile X have seizures, and many have some characteristic physical differences.

This condition has no cure, though many therapies can help children improve their communication, motor and behavior.

Who develops Fragile X syndrome?

Though this is a rare condition, affecting one in 7,000 boys and one in 11,000 girls, “Fragile X is the most commonly inherited form of intellectual disability in boys,” says Deborah Sara Barbouth, M.D., a clinical geneticist with the University of Miami Health System. “Because it’s linked to the X chromosome, females are usually less affected” and typically experience milder symptoms.

“These children have delayed learning, motor and language skills, starting around age six months for boys and at 12 months for girls. Both sexes can be diagnosed with developmental delays by age two, but it can take three years to get this condition diagnosed by a physician,” Dr. Barbouth says.

“Often, parents take their child from doctor to doctor until a provider does genetic testing to confirm the diagnosis.”

Dr. Deborah Barbouth

At the University of Miami Miller School of Medicine, Dr. Barbouth leads one of only 34 specialized Fragile X clinics in the country. The South Florida Fragile X Clinic offers a comprehensive evaluation and provides medical management based on each child’s unique needs.

Fewer than 200,000 cases of Fragile X syndrome are diagnosed each year in the U.S. If there’s a family history of the condition, prenatal testing of the amniotic fluid or placenta can determine if a fetus has inherited it. Soon after birth, genetic testing of the child’s blood or saliva can confirm the diagnosis.

In many cases, parents of children diagnosed with Fragile X are carriers and may themselves have associated conditions, such as premature ovarian insufficiency or Fragile X tremor and ataxia, among other conditions. “We want them to understand that other family members may be at risk for developing these associated conditions,” Dr. Barbouth says. “At the clinic, we have in-depth conversations with families, not only about Fragile X but also about the implications for the rest of their family.”

Children with Fragile X syndrome benefit from early intervention and family support.

“At the South Florida Fragile X Clinic, we provide families with in-depth evaluations, resources and interventions for their children,” says Dr. Barbouth. “For newly diagnosed children, I reassure the parents that there’s nothing they’ve done wrong or didn’t do to cause Fragile X. It may take some time for parents to understand, accept and move forward with this diagnosis. As part of our clinic, we have a genetic counselor who provides support to these families, answers all of their questions and addresses any issues they may have with our recommendations. We also put them in contact with Fragile X support groups here in South Florida.

“Diagnosing these babies at birth can make a difference in their outcome because initiating treatment early provides greater potential to benefit their development,” she says. “Treatment initiated later is still impactful, but less so because a lot of the developmental pathways are already established. Of course, we can start a child on therapy as soon as they are diagnosed, even at three years of age.”

Treatments options for kids with Fragile X syndrome:

• Speech therapy helps children with Fragile X syndrome develop or improve language and communication skills. Recent interventions include technology to assist non-verbal patients with communication.
• Physical therapy helps children develop motor skills, like walking and balancing.
• Occupational therapy helps them with daily life activities, like feeding and dressing themselves.
• Behavioral therapy helps children and parents cope with behavioral issues, teaching them strategies to prevent behavioral problems.
• While there isn’t a single, specific medicine to treat Fragile X syndrome, medicines prescribed for ADHD, seizures, anxiety, sleep problems and mood problems can help relieve some symptoms and improve the child’s and family’s quality of life.
• Children with Fragile X syndrome will need special education support at school. A child may need assistance in the classroom or may need to be in a dedicated special education learning environment. Experts advise parents to work with their child’s school to develop a plan to meet the child’s unique needs.

Hope for the future of Fragile X therapy

Dr. Barbouth and other experts in this field are working to find novel therapies to improve the lives of children diagnosed with Fragile X and adults living with this condition. “We want parents to be aware that there’s so much we now know about this condition, and there’s resources, recommendations and many clinical trials available.”

Current clinical trials are working to address Fragile X behavioral symptoms, including social anxiety and withdrawal, as well as drug trials with some promise to improve the cognition of those with Fragile X.

“We know that with this condition, a particular protein called FMRP is missing. This protein regulates a lot of the other proteins connected to autism. If we can find a way to target this protein, I know that we’re going to see improvements not only in the treatment of Fragile X but maybe in other autism-related conditions, as well,” Dr. Barbouth says.

“There’s also a lot of great programs for adults with special needs and clinical trials that give us hope for novel treatments for other Fragile X features. My colleagues and I, in collaboration with families, are working to help people with Fragile X become more independent and improve their quality of life.

“When parents think of the future and their dreams for their child with Fragile X, I want them to know that every child is different,” Dr. Barbouth says. “Some children we treat are high functioning and grow up to live semi-independently with jobs and loving partners. Others need more significant support throughout their lives.”

To schedule an appointment at the South Florida Fragile X Clinic, call 305-243-5432 or request an appointment online.

Dana Kantrowitz is a regular contributor for UHealth’s news service.

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