What is Fragile X Syndrome?

By: Sana Moqeet

           According to the National Fragile X Foundation, Fragile X syndrome "can cause certain behavioral and learning challenges, as well as a spectrum of intellectual disabilities". Fragile X is more common in males and is more severe in form in males. Fragile X can present itself in a variety of symptoms, including but not limited to ADD/ADHD, social anxiety, increased risks for aggression, and physical features that include larger ears and a long face. Fragile X is characterized by a mutation in the Fragile X Mental Retardation 1 (FMR1) gene. Individuals who carry the disease have excess cytosine-guanine-guanine repeats, upwards of 200 of these repeats. In comparison, individuals without the mutation only carry 6-45 repeats.        

            Current research on Fragile X includes the talk given by Maggie Guy on her research; “Neural correlates of face processing in etiologically distinct 12-month-old infants at high-risk of autism spectrum disorder, “ in which she discussed her findings. Event related potentials were measured in response to stimuli that included the mother’s face, a stranger’s face, a toy owned by the participant, and a new toy. The two groups of participants included high-risk autism spectrum disorder 12 –month olds, known as ASIBs (based on family history- of autism- or a diagnosis of Fragile X syndrome), and low risk 12-month olds. Guy found that the N290 responses were highest in FXS, then LR, then ASIBS. She also found that only FXS infants responded differentially to faces and toys based on familiarity- contrary to her initial hypothesis. Guy predicts that enhanced N290 responses may be a result of social anxiety.

            Additionally, the article Social Approach and Emotion Recognition in Fragile X Syndrome (FXS), in the American Journal on Intellectual and Developmental Disabilities, discusses the relationship between deficits in emotion recognition and social difficulties. Results indicated that FXS participants were less likely to recognize happy faces and angry faces in children. The FXS group was also more likely to think that faces were fearful rather than happy. They also found that approachability ratings of FXS were less for happy faces compared to controls. Their research may shed light on the emotional and social deficits faced by FXS patients and how the scientific community can help these patients. Although their research is speculative because of their small sample size, it brings important potential relationships between FXS emotional recognition and their social expressions in their daily lives. 
           In “4 Generations, 1 Mutation: A Family History with Fragile X Syndrome,” the author discusses the practical implications of Fragile X syndrome in a family that has several members affected. In the Thibodeaux family, Alyssa Thibodeaux’s two-year-old son was diagnosed with Fragile X when he was not hitting developmental milestones by 15 months. The article details the effects the disorder has had on seven family members. Alyssa says that before her son was diagnosed, the family did not know what the syndrome was, but growing up she displayed symptoms that may be related to being a carrier. She suffered from anxiety and ADHD. Her mother, Chrysti, Alyssa’s mother also had difficulty conceiving, which may also be related to her being a carrier as well. Alyssa’s brother, Braden is not a carrier but has anger issues that may indicate he has a pre-mutation, meaning that he has mutations in the FMR1 gene that could become a full mutation. Alyssa’s great- grandmother also realized that members of her extended family were carriers and had behavioral changes.   

This picture shows Alyssa's family tree and indicates that several generations of her family were either carriers of the FMR1 gene, had the pre-mutation, or had Fragile X Syndrome. As mentioned in the article, finding out that multiple generations of her family were carriers explained many behaviors and symptoms of her family members.       

          It is important to recognize that research such as Maggie Guy and those in the AJIDD have practical applications in people’s lives. By understanding how neural pathways work and how participants perceive and understand emotions, it is possible that the scientific community can offer insight on how to better the lives of those affected. More importantly, it is important that society as a whole offer inclusivity for not only Fragile X syndrome patients, but for others with disorders and diseases as well.

1.Anderson M. Giles,  Crawford Haley, Mccleery Joseph, and Oliver Chris. (2014) Implicit Discrimination of Basic Facial Expressions of Positive/Negative Emotions in Fragile X Syndrome and Autism Spectrum disorder. American Journal of Intellecual and Developmental Disabilities. July 2015.

2.FXS-National Fragile X Foundation. (n.d.). Retrieved October 18, 2017, from https://fragilex.org/learn/

3.Guy, M.W., et al. , Neural Correlates of face processing in etiologically-distinct 12 month-old infants at high risk of autism spectrum disorder. Dev. Cogn. Nuerosci. (2017), http:// dx.doi.org/10.1016/j.dcn.2017.03.002

4.Tracey A. Williams, Melanie A. Porter, and Robyn Langdon (2014). Social Approach and Emotion Recognition in Fragile X Syndrome. American Journal on Intellectual and Developmental Disabilities: March 2014, Vol. 119, No.2, pp. 133-150. 

5.Yuhas, Daisy. "4 Generations, 1 Mutation: A Family History with Fragile X Syndrome." Scientific American. www. scientificamerican.com/article/4-generations-1-mutation-a-family-history-with-fragile-x-syndrome/.