Signs & Symptoms
While people affected by FXS do not show same signs and symptoms but they do have some things in common.
Intellectual Disability
- People with FXS affects their intellectual functioning and it usually from mild to severe.
- The individual with FXS affects the ability to reason and learn, problem learning mathematics.
- In severe cases the syndrome causes developmental delay.
- Because it affects the brain development, the person with FXS will experience attention deficit, problem with speech and language, feeling anxious and the IQ usually falls below 70.
- Difficulty with fine motor and gross motor skills.
Physical CharacteristicsWhile some physical symptoms may be difficult to detect, these physical signs can be seen with the children affected by FXS.
|
|
Behavior Signs
Children with FXS will behave differently from other children.
Other common signs with FXS:
Other common signs with FXS:
- Shyness and anxiety-particularly with new situation
- Very affectionate
- Don't know personal space
- Attention Deficit Hyperactivity Disorder (ADHD)
- Characteristic of Autism Spectrum Disorder
- Repetitive Speech
- Very sensitive to touch and loud noise
- Poor eye contact
- Aggression
Associated Medical Concerns
These are some medical concerns that these children with FXS can have.
- Heart Murmur
- Reflux
- Frequent ear infection
- Poor vision
- Seizures
Co-Occurring Conditions
According to Centers of Disease Control (CDC), the National Parent survey shows percentages of male and female affected by FXS.
Males
|
Females
|
Relationship between ASD and FXS
- Whereas ASD is a behavioral diagnosis, FXS is a medical, or more accurately, a genetic diagnosis. When associated with FXS, ASD is caused by the genetic change or mutation in the Fragile X gene. If a child is diagnosed with ASD and then diagnosed with FXS, he or she still has ASD, it is just that the cause of their ASD is known. It is no different than someone with FXS also having ADHD or any other behavioral symptom of FXS.
- Many studies have evaluated the FXS-ASD link over the past decade. Since many children with FXS are interested in social interactions, they may not meet the diagnostic criteria for ASD, even though they exhibit some features of ASD such as poor eye contact, shyness, social anxiety, hand-flapping and sensory issues. Autism is much more common in boys with FXS than in girls with FXS.
- According to CDC, a national parent survey found that 46 percent of males and 16 percent of females with FXS have been diagnosed or treated for ASD.
- About 10 percent of children are identified as having another genetic and chromosomal disorder, such as fragile X syndrome. Given the possibility of a link, it is recommended that all children with ASD, both male and female, be referred for genetic evaluation and testing for FXS and any other genetic cause of ASD.
- Studies show that individuals with FXS who have autism can have a more significant intellectual disability (lower IQ) than those with FXS who do not have autism.
References
http://www.cdc.gov/ncbddd/fxs/data.html
http://www.cdc.gov/ncbddd/fxs/data.html