Introduction
Fragile X syndrome is a genetic condition that can profoundly impact a person's social and behavioural well-being. This often overlooked disorder can lead to a range of challenges, from struggles with social interaction to difficulties with emotional regulation. Understanding the social and behavioural aspects of Fragile X is crucial, as these factors can significantly influence a person's quality of life, academic and professional success, and overall ability to thrive within their communities.
By exploring the distinctive symptoms of this disorder, we can better support individuals with Fragile X and their families. This, in turn, will promote greater inclusion, understanding, and opportunities for those affected. In this article, we'll dive into the key social and behavioural characteristics of Fragile X syndrome, drawing from the latest research to highlight the importance of comprehensive, targeted interventions and support systems. It's time to shed light on this often misunderstood condition and ensure that those living with Fragile X have the resources and support they need to reach their full potential.
Overview of fragile X syndrome
Fragile X syndrome (FXS) is a commonly inherited condition that causes intellectual disability and is often linked to autism spectrum disorder. It has a significant impact on a child's overall well-being due to the physical, intellectual, behavioural, and mental health challenges it presents.1 The syndrome is caused by changes in a gene known as Fragile X Messenger Ribonucleoprotein 1 (FMR1), which is responsible for producing a crucial protein called FMRP essential for brain development. Individuals with FXS do not produce enough of this protein. While both people assigned male at birth, and people assigned female at birth can be affected by FXS. People with AFAB tend to experience milder symptoms. Although the exact prevalence of FXS is unknown, studies suggest that it affects approximately 1 in 7,000 people AMAB and 1 in 11,000 people AFAB.2
FXS is diagnosed using a DNA sample from the child's blood or other tissues. It can also be detected during pregnancy through various tests conducted under the guidance of a genetic counsellor. In such cases, the DNA sample is obtained from either the amniotic fluid or the placenta.3
Babies diagnosed with FXS usually have normal birth appearance, with head size, weight, and height lying within normal bounds. On the other hand, physical and developmental signs typically appear in early childhood, delaying diagnosis until an average of 32 months.4 Due to this delay, families frequently unintentionally end up with multiple children who could get the same syndrome.5 A thorough clinical history, including past medical, birth, and family histories, is essential at presentation, with an emphasis on developmental delays and any linked problems.6 The main characteristic is intellectual disability, which is often accompanied by mood disorders, developmental delays, seizures, and autistic characteristics. Dental crowding, strabismus, and pes planus are among the observed clinical features, along with cognitive impairment and chronic otitis media. Characteristics such as an extended face, broad forehead, high-arched palate, and pubertal macroorchidism may be shown by physical and neurological exams.4,7
Social and emotional implications
Emotional dysregulation difficulties
Many individuals with FXS struggle with emotion dysregulation, which refers to difficulties in managing and responding to emotional experiences. Researchers at Cincinnati Children’s Fragile X Center have examined studies on emotion dysregulation in FXS and other genetic disorders linked to intellectual disabilities to gain insight into this area of research. Their findings reveal that emotion dysregulation in FXS can manifest as irritability, temper tantrums, crankiness, heightened reactivity, exaggerated responses to minor issues, anxiety, and verbal or physical aggression.8 These challenges are believed to stem from the absence of the Fragile X protein, resulting in alterations in neural structures and functioning. Specifically, individuals with FXS may experience difficulties in sensory processing, social and emotional understanding, and executive function, all of which contribute to emotion dysregulation. Recent research indicates that hyperexcitability observed in FXS may further exacerbate these difficulties, serving as a potential risk factor for emotion dysregulation.8
Behavioural pattern
Individuals with FXS often exhibit a range of behavioural difficulties that can significantly impact their daily lives and interactions. One of the most prevalent behavioural characteristics associated with the disorder is social and communication challenges. Studies have shown that people with FXS commonly experience difficulties with social skills, social interaction, and communication. They may struggle to initiate and maintain conversations, read social cues, and engage in reciprocal social behaviours. This can lead to feelings of isolation, loneliness, and frustration, as they have a strong desire for social connection but lack the necessary skills to form and maintain meaningful relationships.9
In addition to social difficulties, individuals with FXS may also exhibit repetitive and stereotyped behaviours, such as hand flapping or biting.10 These behaviours, which are often seen in individuals with autism spectrum disorder as well, can interfere with their ability to engage in functional and adaptive activities. Furthermore, some individuals with fragile X may display challenging behaviours, such as aggression, self-injury, or tantrums, particularly when faced with changes in routine or overwhelming sensory stimuli.11
The behavioural challenges associated with FXS can also have a significant impact on the individual's academic and occupational functioning. Difficulties with attention, impulse control, and executive functioning can make it challenging for individuals with fragile X to succeed in traditional educational and work environments, necessitating specialised support and accommodations.12,13
Social impact
For affected individuals and their families, FXS can have profound and long-lasting societal repercussions. The disorder's social and communication issues can cause a number of problems in relationships and social situations.12
The increased likelihood of social isolation and loneliness is one of the main social implications associated with FXS. People who have FXS frequently have trouble establishing and sustaining social relationships because they have trouble reading social signs, having reciprocal discussions, and figuring out what other people are thinking and feeling. Lack of deep social ties may arise from this, which may worsen feelings of loneliness and marginalization.14
Moreover, the behavioural characteristics of FXS, such as repetitive behaviours, sensory sensitivities, and emotional dysregulation, can also contribute to social challenges. These behaviours may be perceived as unusual or disruptive by peers, leading to stigmatisation, bullying, and social rejection. This can have a significant impact on the individual's self-esteem, confidence, and overall well-being.15
The social implications of FXS can also extend to the family unit. Caregivers and family members may face difficulties in navigating social situations, as they need to advocate for their loved one's needs and educate others about the disorder. This can lead to feelings of stress, burden, and social isolation for the family as a whole. Close to half of families affected by FXS reported a rise in financial strain, with nearly 60% indicating they had to modify their work schedules or cease working altogether due to the condition. The impact of FXS on families' employment and financial stability is substantial.12
Treatment and support
Although there is no cure for FXS, there are therapies that may alleviate the symptoms. To treat FXS symptoms, doctors may prescribe stimulants (such as methylphenidate) to address attention and hyperactivity issues. Also, drugs like fluoxetine, which are selective serotonin reuptake inhibitors (SSRIs), may help people with Fragile X with anxiety and mood issues.16
The best chance for people with Fragile X to utilise all their individual abilities and skills is to receive the proper education, therapy, and medication. Numerous self-help skills are attainable even for people with intellectual or developmental disabilities. Various professionals can support individuals with FXS and their families in coping with the condition's symptoms. These include speech therapists, who work on enhancing speech clarity; occupational therapists, who adapt tasks to suit individual needs; physical therapists, who focus on improving movement; and behavioural therapists, who assist in managing challenging behaviours.17
Early intervention is crucial. Young children's brains are still developing, so getting help early gives them the best chance to learn lots of skills. When FXS is diagnosed and treated early, kids have more chances to learn and do well in school. Many children with Fragile X benefit from special education services designed just for them. These educational programs should consider the child's specific symptoms to create the best learning environment. Fragile X children often have special strengths, like good visual memory. Teachers can use these strengths and weaknesses to help them learn better.18
Summary
FXS, a genetic condition, presents with intellectual disabilities and behavioural complexities. Individuals may struggle with speech, motor skills, and sensory processing, alongside emotional regulation difficulties and social communication challenges. Symptoms often include irritability, aggression, and repetitive behaviours, affecting daily functioning and social interactions. The condition poses significant social implications, leading to difficulties in forming relationships and facing societal stigma and rejection. To support individuals with FXS, tailored interventions are crucial. These encompass speech therapy, occupational therapy, and behavioural interventions aimed at managing symptoms and enhancing quality of life. Early intervention is essential, providing the best opportunity for addressing developmental needs and fostering skills acquisition. Furthermore, educational programs tailored to individual requirements play a vital role in promoting social inclusion and overall well-being. Overall, understanding the multifaceted nature of FXS and providing comprehensive support is key in optimising outcomes for affected individuals and their families.
References
- CDC. What is Fragile X Syndrome (FXS)? [Internet]. Centers for Disease Control and Prevention. 2019. Available from: https://www.cdc.gov/ncbddd/fxs/facts.html
- Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J. Epidemiology of fragile X syndrome: a systematic review and meta-analysis. American Journal of Medical Genetics Part A [Internet]. 2014 Jul 1;164A(7):1648–58. Available from: https://pubmed.ncbi.nlm.nih.gov/24700618/
- Whiting D. Fragile X Syndrome Testing & Diagnosis | Fragile X 101 [Internet]. National Fragile X Foundation. 2017. Available from: https://fragilex.org/understanding-fragile-x/fragile-x-101/testing-diagnosis/
- Stone WL, Hajira Basit, Los E. Fragile X Syndrome [Internet]. Nih.gov. StatPearls Publishing; 2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK459243/
- Bailey DB, Skinner D, Davis AM, Whitmarsh I, Powell C. Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues. Pediatrics [Internet]. 2008;121(3):e693-704. Available from: https://www.ncbi.nlm.nih.gov/pubmed/18310190
- Wattendorf DJ, Muenke M. Diagnosis and management of fragile X syndrome. American Family Physician [Internet]. 2005 Jul 1;72(1):111–3. Available from: https://pubmed.ncbi.nlm.nih.gov/16035691/
- McLennan Y, Polussa J, Tassone F, Hagerman R. Fragile X Syndrome. Current Genomics. 2011 May 1;12(3):216–24.
- Sonia AD. Emotion Dysregulation in Fragile X Syndrome | NFXF [Internet]. National Fragile X Foundation. 2024. Available from: https://fragilex.org/blog/emotion-dysregulation-fxs/#:~:text=Findings%20indicate%20emotion%20dysregulation%20in
- Rosselot H. Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives | NFXF [Internet]. National Fragile X Foundation. Available from: https://fragilex.org/living-with-fragile-x/treatment-intervention/observable-symptoms-anxiety/
- M. Wadell P, J. Hagerman R, R. Hessl D. Fragile X Syndrome: Psychiatric Manifestations, Assessment and Emerging Therapies. Current Psychiatry Reviews. 2013 Feb 1;9(1):53–8.
- Crawford H, Karakatsani E, Singla G, Oliver C. The Persistence of Self-injurious and Aggressive Behavior in Males with Fragile X Syndrome Over 8 Years: A Longitudinal Study of Prevalence and Predictive Risk Markers. Journal of Autism and Developmental Disorders [Internet]. 2019;49(7):2913–22. Available from: https://link.springer.com/article/10.1007/s10803-019-04002-3
- Ouyang L, Grosse S, Raspa M, Bailey D. Employment impact and financial burden for families of children with fragile X syndrome: findings from the National Fragile X Survey. Journal of Intellectual Disability Research. 2010 Aug 26;54(10):918–28.
- Hartley SL, Seltzer MM, Raspa M, Olmstead M, Bishop E, Bailey, DB. Exploring the Adult Life of Men and Women With Fragile X Syndrome: Results From a National Survey. American Journal on Intellectual and Developmental Disabilities [Internet]. 2011 Jan;116(1):16–35. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3238098/
- Van Remmerden MC, Hoogland L, Mous SE, Dierckx B, Coesmans M, Moll HA, et al. Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents. Journal of Autism and Developmental Disorders. 2019 Mar 16;50(6):2174–87.
- Cregenzán-Royo O, Brun-Gasca C, Fornieles-Deu A. Behavior Problems and Social Competence in Fragile X Syndrome: A Systematic Review. Genes. 2022 Jan 30;13(2):280.
- Medication Treatments [Internet]. https://www.nichd.nih.gov/. Available from: https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/medicationtreatments
- Acero-Garcés DO, Saldarriaga W, Cabal-Herrera AM, Rojas CA, Hagerman RJ. Fragile X Syndrome in children. Colombia Médica : CM [Internet]. 2023 May 20;54(2):e4005089. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469670/
- What are the treatments for Fragile X syndrome? [Internet]. http://www.nichd.nih.gov/. 2016. Available from: https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/treatments