The Use of Complementary and Alternative Therapies in the Treatment of Fragile X Syndrome

Complementary and alternative medicine (CAM) therapies are defined by the National Center for Complementary and Alternative Medicine [now named the National Center for Complementary and Integrative Health] as “a group of diverse medical and health care systems, practices, and products that are not presently considered to be part of conventional medicine.” They are very widely used in the general population; there are many anecdotes of families exploring CAM therapies for their children with Fragile X syndrome although the rate at which this occurs is unknown.

Families usually choose CAM therapies because allopathic interventions have not resolved their concerns, and for philosophical and cultural reasons. There are many different types of CAM, with varying degrees of evidence for benefit or harm. Many practitioners claim proven efficacy, but available studies tend to be poorly designed. Unfortunately, because of the lack of critical peer review, these studies are often able to be published or otherwise disseminated to practitioners and potential patients.

CAM fall into a number of basic categories:

• Mind-body therapies — such as yoga and meditation.
• Biological therapies — such as special diets, vitamin and herbal supplements, homeopathy, chelation therapy, and physiological agents such as hyperbaric oxygen.
• Manipulative and movement therapies — such as massage, craniosacral therapy, reflexology, and Alexander technique.
• Energy therapies — such as Reiki, crystal, qi-gong, and magnetic therapy.

The physician managing an individual with FXS must inquire if the family uses or plans to use CAM. Failure to do so can complicate patient management, as there may be adverse effects or interactions with the allopathic treatment plan. In addition, awareness of a family’s interest in pursuing CAM allows the physician to discuss alternatives and to guide the family away from potentially dangerous interventions such as chelation therapy, high-dose antifungal agents, and inappropriate dietary restrictions. Empathic dialogue regarding CAM also serves to reduce parental antagonism toward allopathic treatment and may translate into better adherence to prescribed treatments.

Current treatment guidelines for FXS do not specifically advocate any form of CAM therapy. However, if a family is considering one of these treatments, we strongly recommend that they review the treatment under consideration with the physician in charge of managing the child’s FXS symptoms. Points for discussion with the family include the evidence of efficacy vs. possible adverse effects, the financial burden of the therapy, and any emotional tolls of the treatment, including discomfort and time required.

Other specific concerns include adverse interactions of the CAM therapy with the rest of the patient’s treatment regimen. Potentially toxic interactions are most often reported — but are obviously not limited to — herbal remedies and traditional Chinese and Ayurvedic treatments. This can be challenging as very often the “ingredients” have unknown pharmacological effects. In these instances, alternative therapists themselves may have at least some experience of treating individuals receiving the same orthodox medications or therapies. If trusted, and in conjunction with the primary care doctor, their experience may help guide decisions. This is clearly not ideal but may be better than no communication among involved parties.

There is currently no evidence for the effects of any of these therapies in FXS and very limited data for their use in other populations. However, some studies have been performed in small populations with autism and cognitive impairments. No CAM therapy has been shown to be efficacious at a level of scientific rigor commensurate with an FDA-approved drug; indeed the therapies in which studies have been undertaken have shown conflicting results. This is not surprising, given the small size and low statistical power of these studies. Where sufficient number of such studies has allowed Cochrane review and meta-analysis, the results have shown either no benefit or not been conclusive. For those in which the data is unclear, there is thus a possibility that more powerful studies could show benefit.

Therapies with Possible Benefits

The best evidence currently available for therapies with potential benefits (cognitive or behavioral) includes music therapy, vitamin supplementation, dipeptides (carnosine and carnitine) and omega-3 fatty acids.

Therapies of Unknown Efficacy

Many therapies, including the traditional Chinese and Ayurvedic therapies, have simply not been studied to sufficient degree or in a manner that allows for risk-benefit assessment at this time. Although there is some questionable possibility for benefit from the casein and gluten-free diet, adherence to this diet does increase the risk for deficiencies in calcium, vitamin D, and protein. It also presents a significant financial and social burden for the family. Families who choose elimination diets may find referral to a dietitian helpful. Therapeutic listening (auditory integration training) and yoga, like many other therapies, remains experimental for those with FXS, with no benefit having been proven.

Therapies With No Benefits

There are numerous CAM therapies that have no evidence supporting their use in symptoms related to FXS. This includes homeopathy, crystal therapy, and Reiki.

Dangerous Therapies

The following therapies should never be used as they are dangerous and have no benefit: Chelation therapy, high-dose antifungal agents, and severe dietary restrictions.

What should I tell my patients?

There is limited evidence for CAM effectiveness, and the primary problem is that many such therapies overplay anecdotal evidence. In allopathic medicine, there is a mechanism in place that gradually resolves the use of unsupported treatments, while in CAM practice each therapy operates in a completely or partially autonomous manner to other therapies. As a consequence, CAM therapists may not be able to appraise treatment efficacy in an unbiased manner.

What are the expected benefits and side effects of CAM treatment?

CAM therapies often offer a holistic approach in which the therapist is able to spend more time with the family; this involvement itself may have therapeutic benefits. A good CAM practitioner should be willing to work with mainstream medical practitioners; indeed, one who advocates against allopathic treatment should raise the family’s concern. Similarly, a medical practitioner who is not willing to listen to the family’s interest in CAM and to evaluate a given therapy in an objective manner may not be ideal for that family.

What to do in an acute situation?

If the child is acutely ill, the family should contact their physician, or should take the child to the emergency room. The Poison Control Center may be able to assist physicians dealing with unknown agents.

Are there therapies other than those discussed here?

Yes, the therapies mentioned in this article are by no means comprehensive. The National Center for Complementary and Alternative Medicine (NCCAM) [now named the National Center for Complementary and Integrative Health (NCCIH)] has information on many. No list, however, is exhaustive. Even greater care should be taken pursuing particularly esoteric options, as there will be less experience of potential harmful effects than in the more well-known options.