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Folic Acid: Response

Clearly, not all patients with FXS respond to folic acid, but a significant number of prepubertal boys with FXS are reported by their families to be less hyperactive and to have a better attention span on folate. The cognitive improvements in young boys with FXS reported by Hagerman et al. (1986) seem to be the result of improvement in attention span and concentration, which is consistent with the hypothesized effect on dopamine synthesis (Levine et al. 1981). The effect of folic acid is similar to the response noted with stimulant medication, although the latter usually causes a more dramatic improvement in attention. A rare patient will become more hyperactive on folate, and an occasional adult with FXS will have more outbursts on folate. It is, therefore, not recommended for adult patients, who are less frequently plagued by hyperactivity.

Improvements in speech, language, and motor coordination are also occasionally reported by parents when their children are taking folic acid (Hagerman et al. 1986; Turk 1992). The effectiveness of folic acid has been difficult to document in controlled studies; if a child responds to folate, however, parents usually insist on using it. As many parents are adamant about its effectiveness, perhaps future studies should focus on identifying the subgroup of children with FXS who respond. There is no evidence for a metabolic defect in folate metabolism in FXS (Brondum-Nielsen et al. 1983; Wang and Erbe 1984). There is one report of a child with FXS who deteriorated behaviorally and developmentally after treatment with trimethoprim, an antibiotic that interferes with the metabolism of folic acid (Hecht and Glover 1983). Therefore, caution should be used in treating patients with FXS with drugs that lower folate levels, including phenytoin.

This article is not intended to give medical advice for individual cases.  Any change in medical treatment should be done in consultation with appropriate medical personnel. This article is written for medical professionals.  Some of the terms will be unfamiliar to those who are not trained in medical fields.

*This article is from the chapter on treatment in the 3rd edition of Fragile X Syndrome: Diagnosis, Treatment, and Research edited by Randi Jenssen Hagerman, M.D. and Paul Hagerman, M.D., Ph.D., to be published May 2002.  It is included with permission from The Johns Hopkins University Press. References to other chapters refer to chapters in the book which are not included as part of this website.

The complete 3rd edition of Fragile X Syndrome: Diagnosis, Treatment, and Research can be ordered from the National Fragile X Foundation by calling 1-800-688-8765 or from The Johns Hopkins University Press at 1-800-537-5487.

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Medication can be important in the treatment of fragile X related behavior problems
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