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Friday, February 22, 2008

For Boys with Fragile X Sydrome and ADHD, New Hope found in Non-Stimulant Medication

The most common hereditary form of hereditary mental retardation is known as Fragile X syndrome (FXS), so dubbed for its characteristic mutation on the X chromosome, or Escalante's syndrome. Manifestations of this disease in patients usually include a characteristic long facial pattern, tooth and jaw misalignment, musculoskeletal abnormalities, or autism.

Additionally, many FXS patients also suffer from attention deficit and/or hyperactivity disorder (ADHD), a disorder that can make functioning socially or professionally difficult. Stimulant medications, such as Ritalin®, are often effective for ADHD patients with mental retardation, but there are counterproductive side effects such as irritability, diminished speech, and social withdrawal.

L-acetyle carnitine (LAC,) a variant of the amino acid carnitine, showed promise in a previous study of reducing hyperactive behavior in FXS boys with AHDH. They were treated with it for one year, with no adverse side effects reported. The same authors have subsequently performed a randomized, double-blind, placebo-controlled study over multiple centers to determine how effective LAC can be in a larger group. This study will be published in the April 1, 2008 issue of American Journal of Medical Genetics Part A, which is available online via Wiley InterScience at the following address: http://www3.interscience.wiley.com/cgi-bin/jhome/33129.

M. Giulia Torrioli and Giovanni Neri of the Università Cattolica in Rome led the study, which brought together 51 boys between the ages of 6 and 12 who had been diagnosed with FXS and ADHD. They were treated in one of eight facilities in Italy, France, and Spain. The treatment, 500 milligrams of LAC or a placebo twice a day, was continued for 12 months. A team of child neuropsychiatrists and psychologists evaluated each patient at the start of the study, after one month, 6 months, and 12 months. Neuropsychologicial tests were used to evaluate the effects of the drug and the placebo.

Subjects in the LAC group showed reduced hyperactive behavior and better attention. In this group there were also no side effects, indicating that LAC provides a safe alternative to stimulant therapies. The placebo group showed less hyperactive behavior as well, but not at the magnitude of the LAC group. Additionally, LAC patients showed improved social ability. While both groups took intelligence tests, LAC did not appear to improve intellectual function.

"We propose that LAC be recommended as a treatment of ADHD in FXS children," the authors state, "since it effectively reduces hyperactive behavior and improves social abilities without adverse side effects." They also suggest that these results may be applicable to children with autism, who also do not easily tolerate stimulants.

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