Genetics & Fragile X Syndrome

There is a very rare genetic disorder that causes a mutation in the FMR1 gene called Fragile X syndrome.  This genetic disorder can affect both males and females though it has shown females have milder symptoms.  It affects about 1 in every 4000 males, and 1 in every 8000 females.  This condition is usually not life threatening though it does come with some health concerns and challenges. 

Fragile X syndrome can be diagnosed either in utero, or usually symptoms become apparent between the ages of three and four.  Doctors will usually want to test for the gene malformation if there are physical symptoms, learning delays, or has a family history.  If you have a family history you can have an amniocentesis done while pregnant.  This is when a doctor will insert a needle into your uterus to test the amniotic fluid for the FMR1 gene change.  A chorionic villus sampling that tests the placenta cells for the gene malformation can also be done.  After birth if there are physical symptoms blood tests can diagnose the syndrome.  

Symptoms

Symptoms can vary from mild to severe.  The syndrome can cause intellectual disability, behavioral and learning challenges, and even some physical characteristics. 

Some symptoms are trouble learning to sit, crawling, walking, trouble with language and speech, hand flapping, poor impulse control, no eye contact, anxiety, temper tantrums, sensitivity to light and sound, hyperactivity, trouble paying attention, aggressive, self destructive behavior, autism or difficulty sleeping. 

Physical symptoms can include long narrow face, large ears, large head, large forehead and chin, loose feet, flat feet, or enlarged testicles.  Girls can have trouble getting pregnant later in life, and may experience early menopause. 

Severe Fragile X syndrome patients can also suffer from seizures, hearing problems, vision problems, or heart problems.  Not all symptoms may be present.  Symptoms are different case to case.  Men who have Fragile X syndrome later in life may develop Fragile X tremor ataxia syndrome.  This can cause tremors that get worse and can cause difficulty with balance and walking.  Men with Fragile X syndrome are also at a higher risk for dementia.  

Diagnosis

Early diagnosis and treatment is the best.  There is no cure for Fragile X syndrome, treatment is to improve life, and manage symptoms.  Treatment can include special education, speech and language therapy, occupational therapy, behavioral therapy.  For more severe cases medications to help control seizures or help with ADD symptoms.  

Outcomes

Fragile X syndrome is a lifelong condition that affects all aspects of life from schooling, to work, to social life.  Some people with Fragile X syndrome achieve high school diplomas and can carry on a normal job.  Those with more severe symptoms though may not even make it through high school and may need constant help with daily activities.  

Risk Factors

Either men or women can be carriers for the gene mutation.  Women who carry the gene mutation though have a higher risk of passing it on to any of children whether they are male or female.  Men who are carriers only have a chance to pass along the mutation to their daughters, not to their sons.  Though their daughters may not have any symptoms or the syndrome at all.  It does however increase the chance for the man’s grandchildren to get the gene disorder.  You can be a carrier without having symptoms yourself, so sometimes you won’t know you are a carrier.  

Takeaway

Fragile X syndrome is a lifelong condition that can affect intellectual, behavioral, and physical characteristics.  Getting early treatment is key to managing symptoms and helping with therapy to help teach your baby how to crawl, walk or talk.  Symptoms vary from child to child, and some females won’t have many symptoms at all.  There are some long term risks that go along with Fragile X syndrome.  Dementia, Fragile X tremor ataxia syndrome, early menopause, or trouble conceiving.  Some people with Fragile X syndrome though will need daily care, while others can have a high school graduation, and hold a steady job.  There is no cure but with early diagnosis, and treatment your child can live a normal lifespan.  

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