First Study Showing Signs of Fragile X in Infancy

By AASLJune 24, 2018

July 22nd is National Fragile X Awareness Day and AASL is here to help spread the word #FragileX! 

Did you know that Fragile X Syndrome is one of the most commonly inherited genetic disorders worldwide, affecting 1 in 4000 boys and 1 in 6000 girls? 

Here are a 5 more facts to from the National Fragile X Foundation to help us spread awareness:

–       1. Fragile X is the leading known genetic cause of Autism Spectrum Disorders; 2-6% of children with ASD have been diagnosed with Fragile X.

–       2. Fragile X can cause speech impairments, and some children may display rapid and repetitive speech patterns that are difficult to understand.

–       3. Children with Fragile X Syndrome may exhibit behavioral challenges, hyperactivity, anxiety, and sensory sensitivities.

–       4. Fragile X is the leading known cause of inherited intellectual disabilities, ranging from mild learning difficulties to severe cognitive impairments.

–       5. With therapy, support, and education, children with Fragile X Syndrome can maximize their potential to lead full, meaningful lives!

   To learn more about Fragile X visit

To explain the results of this study, we first have to explain what white matter is.

What is White Matter?

The brain’s white matter contains millions of nerve fibers that connect different areas of the brain. These fibers enable the areas of the brain to communicate with each other efficiently and as a whole, which is also essential for proper neurodevelopment during childhood. Neurodevelopmental conditions reveal changes in this white matter, different from that of neurotypical peers.

First Study to Show Signs of Fragile X in Babies

For the first time, University of North Carolina-Chapel Hill School of Medicine used MRIs to show that babies with fragile X syndrome had less-developed white matter compared to infants that did not develop the condition. Imaging different sections of white matter from a variety angles can assist researchers in studying the brain circuitry necessary for proper neuron communication.

The study, published in JAMA Psychiatry, is the first one to show signs of Fragile X this early on in childhood development. Usually, Fragile X is diagnosed at age 3 or later, however brain differences can be identified well before this age, possibly as early as 6 months as revealed in this study.

Fragile X Syndrome is a genetic disorder with symptoms that include intellectual differences, social interaction difficulties, delayed speech, hyperactivity, and repetitive behaviors and speech. About one-third of individuals with fragile X meet the diagnostic criteria for autism spectrum disorder.

How This Discovery Helps…

Meghan Swanson, PhD, postdoctoral research fellow at the Carolina Institute for Developmental Disabilities at the UNC School of Medicine shares the hope of this study; that early diagnosis and intervention will be able to better aid children with fragile X and their families, as well as to enlighten drug development research or other therapies.

Research so Far…

So far, there have been drug clinical trials, but they haven’t been as impactful as researchers would like. This is primarily due to challenges in identifying good treatment outcome measures or biomarkers that reveal response to intervention. Without the ability to judge effectiveness of treatments, clinical trials can only do so much.

This Study Could Solve the Problem

The white matter differences that researchers observed in infant brains could be used as a marker for treatment effectiveness and measurable target for early intervention, according to Heather C. Hazlett, PhD, assistant professor of psychiatry at the UNC School of Medicine. A definite biomarker could dramatically increase the effectiveness of future clinical trials.

Where to go From Here?

According to Jason Wolff, PhD, former postdoctoral fellow at UNC-Chapel Hill and now assistant professor of educational psychology at the University of Minnesota, there is a lot of work left to do. Achieving the goal of infant intervention for fragile X would require researchers to expand newborn screening efforts.


DISCLAIMER: Information published about one particular disorder does not necessarily apply to every individual who has the disorder discussed in this article. Treatments and therapies are highly individual and must be customized to the needs of each person to be effective. Do not make changes to your/your child’s treatment plan as a result of what you read in this article (or any content published by AASL) without consulting your/your child’s physicians and therapists. This content does not necessarily reflect the opinions of All About Speech and Language or its therapists. To understand the opinions and recommendations of your/your child’s AASL therapist, schedule an appointment with your therapist to discuss your concerns.

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