Family Physician: A Friend to Depend On

Posted on: 27 February 2017

Fragile X syndrome causes a child to have a host of developmental problems. This genetic disorder affects males more than females. By age 2, a child with fragile X syndrome has delayed speech and language. Read on to find out how a pediatrician from a place like Ada Pediatrics PA can assist you with a fragile X syndrome diagnosis.

What Is This Genetic Disorder?

Fragile X syndrome causes behavioral and learning challenges, intellectual disabilities and other physical characteristics. Behavioral characteristics may include social anxiety, ADHD, ADD, autism, poor eye contact, flapping, hand biting, sensory disorders, poor eye contact and increased aggression. This disorder also affects you physically. It causes problems with your eyes, heart, skin, orthopedic problems and with connective tissues. The connective tissues support, bind, separate and connect your tissues and organs.

If there is a problem with your connective tissues, then you can have a host of physical problems. These physical problems include ear infections, double-jointed fingers, flat feet, hyper-flexible joints and high arched palates. For these reasons, you could benefit from talking to your local pediatrics office.

Provide Counseling

Fragile X syndrome can be diagnosed during the pregnancy. It is hard for an expectant couple to receive a life changing diagnosis and they may not understand the diagnosis. In many cases, a pediatrician is called in to counsel the expectant couple.

Review Diagnosis

Your pediatrician will review the diagnostic results that led to a diagnosis of the disorder. He or she can explain why your fetus has fragile X syndrome and if there is potential for the syndrome to reoccur in other pregnancies.

Fragile X syndrome is a complex condition. When a baby is diagnosed, you must look at how the disorder manifests. This disorder does not have a fixed pattern and goes through changes. Your pediatrician review this information and try to determine a long-term prognosis.  

To treat fragile X syndrome, medical professionals must look at the available interventions and treatment options. They also have to look at the side effects, costs and burdens of the treatments.

It is a hard job, but your pediatrician and medical team want you to know as much as possible. This team should also include a clinical geneticist and genetic counselor.

A pregnant mother has the option to continue or terminate the pregnancy after the diagnosis. However, it is important to not rush to make a decision. You should get as much information as possible. If you decide to have your child, then it helps to take your child to the pediatrician who reviewed the diagnosis.