Medical complications

Fragile X syndrome (FXS) is associated with a normal life span.  Many people with this syndrome participate in an active lifestyle and enjoy good health. Although no single health problem is exclusive to Fragile X, some individuals with this syndrome are more prone to a number of medical conditions. 

Here are some conditions that individuals with Fragile X syndrome may experience:

Ear infections (otitis media):

These are common to boys, and because these infections can cause intermittent hearing loss, an aggressive approach to prevention is important to pursue. Some children may be put on a low dose of antibiotics for a season or longer, while others may need to have tiny tubes inserted to help drain fluid from the ears. Hearing should be tested by an audiologist regularly to ensure there is no hearing impairment. Boys typically outgrow the frequent ear infections.

Attention deficit hyperactivity disorder (ADHD):

Attention problems can interfere with all aspects of a child’s life. For example, speech and language development can be compromised, as children can’t focus on what is being said during a conversation. After an assessment by a pediatric neurologist for ADHD, medication may be prescribed to help some individuals control their repetitive “self-talk”, their anxiety and some of their social disorders. Some children will outgrow ADHD symptoms, but in many cases, they will require treatment throughout life. 

Autism:

Autism is diagnosed when a person has delays or abnormalities prior to the age of 3 years in social interaction, in language as used in social communication, in behaviour and interests, and in symbolic or imaginative play.  The specific details are in the DSM IV. This diagnosis should be made by an expert, such as a child psychologist, child psychiatrist or developmental pediatrician. There is a 20-25% incidence of autism in people with Fragile X syndrome.

Mitral Valve Prolapse (MVP):

This condition may be manifested by a click or an early systolic murmur and caused by a valve that does not close properly occurs in approximately 50% of adult males with FXS.

Seizures:

These occur in approximately 15-20% of children with FXS. The type of seizure may include absence episodes, partial motor, generalized (grand mal), or partial complex seizures. If a history of seizures is obtained, an electroencephalogram (EEG) that includes both waking and sleeping states should be done. Pharmacotherapy for seizures is recommended and advice must be sought by your doctor.

Strabismus:

This is also called in layman’s terms “lazy eye”.  An ophthalmologic examination is recommended by four years of age or earlier because strabismus or other difficulties may occur in children. An obvious visual defect requires referral to an ophthalmologist as soon as it is noticeable.

Hernias

Joint problems

Depression

Connective tissue issues, including dysplasia
Scoliosis
Flat feet

With Fragile X individuals prone to a number of conditions, regular medical check-ups are important, beginning in infancy and throughout life. An awareness  of these increased health risks can lead to prevention, early diagnosis and appropriate treatment.