July 22, 2017

Fragile XHave you heard of Fragile X? It’s now National Fragile X Awareness Month and today, the twenty-second of July, is its official awareness day. Affecting one in every five thousand people each year, we’d like to take today to help increase awareness of this disorder in hopes of benefiting the individuals it touches.

What is Fragile X?

Fragile X is a group of genetic disorders caused by the mutation in a single gene (FMR1) on the X chromosome. Fragile X casts a wide net for the demographics of its patients and its diagnoses can fall into one of the following three disorders.

  1. FXTAS – This disorder is most common in older adults and it negatively affects their nervous system. Balance, memory, and behavioral issues are all common disabilities tied to this disorder.
  2. FXPOL – This is a disorder of the ovaries and is usually marked by early onset of menopause and infertility in women.
  3. Fragile X syndrome (FXS) – This is the Fragile X disorder that affects some Aveanna kiddos. Fragile X syndrome, also known as Martin-Bell syndrome, is an inherited cause of some developmental disabilities that can be associated with autism and other intellectual disabilities.

How are FXS and ASD related?

Children with Fragile X syndrome often have language delays and developmental delays, as do children diagnosed with autism. Fragile X syndrome causes a delay in functioning across many functional domains.  It is a specific, identifiable condition with a known genetic cause.  Autism spectrum disorder is identified by a cluster of symptoms rather than a specific condition, and is believed to have many causes, most of them unknown.  According to the Forward Registry and Database, “40 percent of individuals with FXS are diagnosed with ASD.” On the flip-side, “about 10 percent of kids with ASD are diagnosed with a genetic disorder like Fragile X syndrome.” To emphasize clarity, not all kids that have FXS have ADS, and vice versa, however, the two diagnoses have considerable overlap and can benefit from intensive therapy aimed at developing functional skills across domains.

According to the Center for Disease Control (CDC), FXS can also appear with other conditions including anxiety, ADHD, depression, difficult peer relationships, and more.  All forms of Fragile X are inherited, so they can vary in their severity.

Is there a cure?

There are many treatments available to help individuals with Fragile X syndrome, but there is currently no known cure. There are medications on the market that treat anxiety and mood disorders and various therapies can be used to help individuals with learning and behavioral disabilities.

By working together to raise awareness, increase research funding, and push for improved disorder detection and treatments, we will continue to improve the way we help our friends diagnosed with Fragile X.  Aveanna is honored to support our pediatric patients and their families every step of the way.