Fragile X Syndrome? How to treat it

Fragile X Syndrome, also called FXS is the most common cause of mental impairment including learning disabilities, intellectual disabilities and autism.

Fragile X Associated Primary Ovarian Insufficiency (FXPOI) is a disorder that may cause premature menopause and infertility in women who have this gene.

Etiology of Fragile X Syndrome

Around 1 in 8000 American women have Fragile X Syndrome (Emedicine, 2011).

Women are 2 to 4 times more likely to have FXS than men (Emedicine, 2011). But only 1 in 3 women who have the FXS gene displays intellectual disabilities. Women are less likely to show intellectual impairment and have less noticeable physical characteristics.

Premutation Carrier

Even if you do not have Fragile X syndrome you can be a premutation carrier for FXS. If you have 1 normal X chromosome and another X chromosome with around 59-200 repetitions of the abnormality, you are a premutation carrier and have an increased chance of bearing children who have FXS.

Fragile X carriers often have no visible signs of this mutation. FXS may run in some families without visible signs for generations while in others the signs can appear immediately.

About 1 in 240 women are premutation carriers (InheritedHealth, 2011).

Premature Ovarian Failure

You have a higher risk of premature ovarian failure (POF) if you have FXS.  You can, however, still conceive with POF provided that you have not completed the menopause. With POF your ovulation is very sporadic even though you may menstruate normally.

Medical care includes treating common problems such as gastroesophageal reflux, otitis media and sinusitis. L-acetyl carnitine (LAC) is an amino acid recommended for treatment of Attention Deficit Hyperactivity Disorder (ADHD) – another problem caused by FXS.

Other FXS symptoms

Behavioral treatment for FXS patients focuses on areas such as social eye contact and stress control. If you have FXS, you should get special care. Consult with a professional in the field to assess what aspects of this condition need most care in your case.

An orthopedic surgeon can assess if you have an abnormal gait. This is caused by pes planus and can be treated using orthopedic shoes or orthotic inserts. FXS may also cause scoliosis. If you are experiencing these symptoms you should schedule an appointment with an orthopedic surgeon.

FXS may also present with strabismus (cross-eyes).

Natural treatments

Clinical studies show vitamin and mineral supplements may help treat autism and Fragile X Syndrome. Supplementation needs vary from person to person. Consult with a professional to assess your nutrient requirements.

Some mental impairment may be a consequence of intolerance to certain food such as sugar, gluten and dairy products. The removal of these foods from your diet may improve your Fragile X Syndome condition. Speak to a naturopath or a nutritionist before making changes to your diet.

Do you have POF and FXS? What natural treatments have you used? I would love to hear from you.

Sources:

• Emedicine.2011.Medscape. 16 February 2011
• InheritedHealth.2010.AccessDNA, Inc. 21 February 2011
• Sherman SL. [2000]. Premature ovarian failure in the Fragile X syndrome. Am J Med Genet, 3:189-194.
• Sullivan AK, et al. [2005]. Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod, Feb;20[2]:402-412.
• The National Fragile X Foundation.2010.NFXF.21 February 2011
• Welt CK, Smith PC, & Taylor AE. [2004]. Evidence of early ovarian aging in Fragile X premutation carriers. J Clin Endocrinol Metab, 9: 4569-4574.

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