From the Guidelines
Fragile X syndrome presents with a range of symptoms that vary in severity, including specific cognitive deficits, characteristic physical features, and behaviors, as outlined in the 2013 guidelines for fragile X testing 1. The symptoms of Fragile X Syndrome (FXS) can be categorized into several key areas, including:
- Physical symptoms: such as a long face, large ears, flat feet, and hyperextensible joints
- Intellectual disability: present in most affected males and about one-third of females, ranging from mild to severe
- Speech and language delays: common, with repetitive speech patterns often observed
- Behavioral symptoms: including attention deficit hyperactivity disorder (ADHD), anxiety, hand flapping, poor eye contact, and sensory sensitivities
- Medical issues: such as seizures, recurrent ear infections, and mitral valve prolapse According to the guidelines, individuals with the premutation may also experience learning difficulties, emotional problems, or even intellectual disability, particularly those with high repeat sizes (>100 repeats) 1. It is essential to note that females with premutations are at a ~20% risk for premature ovarian insufficiency (POI), while older males and females with premutations are at risk for FXTAS, a late-onset, progressive development of intention tremor and ataxia often accompanied by progressive cognitive and behavioral difficulties 1. Early diagnosis and intervention with speech therapy, occupational therapy, and behavioral therapy can help manage symptoms and improve outcomes in individuals with Fragile X syndrome.
From the Research
Symptoms of Fragile X Syndrome (FXS)
The symptoms of FXS can be categorized into physical, cognitive, and behavioral features. Some of the common symptoms include:
- Hypersensitivity to stimuli
- Overarousability
- Inattention
- Hyperactivity
- Explosive and aggressive behavior (mostly in men) 2
- Social anxiety
- Other anxiety disorders
- Depression
- Impulse control disorder
- Mood disorders
Behavioral Profile
The behavioral profile of individuals with FXS depends on gender and the molecular status of the mutation. Features of the behavioral profile include:
- Attention-deficit/hyperactivity disorder symptoms
- Irritability/agitation
- Aggression
- Self-injury
- Obsessive-compulsive disorder (OCD)
- Mood swings 3
Psychiatric Disorders
Individuals with FXS are at risk of developing various psychiatric disorders, including:
- Anxiety disorders
- Attention deficit hyperactivity disorder (ADHD)
- Autism spectrum disorder (ASD)
- Mood instability
- Aggression 2, 3, 4
Treatment
While there is no specific treatment for FXS, various medications can be used to manage the symptoms. These include:
- Stimulants for hyperactivity
- Alpha(2)-adrenoceptor agonists and beta-adrenoceptor antagonists for overarousability, impulsivity, and aggressiveness
- Selective serotonin reuptake inhibitors (SSRIs) for anxiety, impulsivity, and irritability
- Antipsychotics for psychotic disorders and severe aggressive behaviors
- Mood stabilizers for mood dysregulation or mood disorders 2, 3, 5