Fragile X Syndrome is a genetic disorder that affects learning, cognitive functioning, speech, physical appearance, and behavior. Symptoms vary from person to person but are often identified in early childhood through speech delays, learning challenges, behavior challenges, or physical symptoms.
Physical symptoms
A child with Fragile X may have
- A longer forehead and lower jaw
- Larger ears
- A long face
- Joints are hyperflexible
- Scoliosis
Diagnóstico
Fragile X syndrome symptoms can be similar to Autism Spectrum Disorder (ASD) so the diagnosis of this genetic disorder is made through a blood test. Women carry the X chromosome that may be mutated and this can be detected via a special blood test prior to pregnancy or birth. Testing for this disorder is not in the typical genetic battery of tests a pregnant woman receives.
Associated Disorders
Children with Fragile X syndrome may also be diagnosed with Autism Spectrum Disorder, cognitive delays/intellectual disabilities, anxiety, learning disabilities, or attention issues (i.e. ADD/ADHD). Children with Fragile X may also be limited in their communication abilities until they are toddlers. These children might need some support throughout their life with communication and social skills.
What services might benefit my child with Fragile X?
A pediatric neuropsychologist can evaluate the child to recommend services that will benefit them. Because of the many different ways this disorder can present, the services really depend on the child’s specific needs. They may benefit from speech therapy to expand expression verbally or with augmentative and alternative communication (AAC). They also may benefit from occupational therapy to expand their adaptive and functional skills. Additionally, they may benefit from social work or services from a psychologist to support them in managing their anxiety and help them with social situations.
I have a diagnosis from my pediatrician? Now what?
We recommend connecting with a pediatric neuropsychologist in order to identify specific areas where clinicians can support you and your family across all areas. Additionally, if your child is under 3 years old, connect with “Early Intervention” services that can support you in your home. If your child is school-age, reach out to your child’s teacher to start exploring options that might benefit them in the school setting. This might include services like time with a special education teacher, occupational therapist, social worker, or speech therapist as a part of their daily schedule. Clinicians at the Goldman Center can help you navigate these different options to best support your child and your family.