Fragile X or Escalante's syndrome (FXS) is the most common genetic root of mental impairment. Caused by a relatively widespread variation in a single gene, the syndrome is not always dramatically apparent. But in prominent cases its side effects, which are usually very clear from infancy, include physical abnormalities, developmental disabilities, autism, severe mental retardation and, quite frequently, ADHD. Affected children have trouble with all forms of social functioning and will most likely never be able to live independently. Prescribing typical stimulant medications like Ritalin and Adderall to affected children cannot be recommended due to uncertainties regarding their effects on the developing nervous system, but new research notes potential in treatments involving an organic non-stimulant substance already found in animal food products and nearly all of our internal tissues.
Many of the Fragile X's most obvious manifestations are physical (elongated faces and ears, abnormally large chins or foreheads) but its cognitive and behavioral effects are far more profound: repetitive speech and obsessive tics, a hostility to physical contact, an inability to focus on any given stimuli, difficulty communicating with others or expressing coherent thoughts. Though women are far more likely to carry the genetic tendency (estimates run as high as 1 in 130), the condition affects boys in a far more dramatic fashion than their female counterparts. Fragile X girls are more often mildly retarded and their physical abnormalities are not as pronounced; most related studies have therefore been performed on all-male samples.
Acetyl-L carnitine (LAC), a naturally occurring bodily substance and dietary supplement that is very similar to certain metabolic amino acids, has shown promise as a potential ADHD treatment in past studies. The human body manufactures and uses it to transform consumed fats into energy, but supplemental doses could help certain bodily systems produce more energy and counteract the adverse effects of various (mostly cardiovascular) conditions; such extra doses of carnitine have been observed to reduce the severity of ADHD symptoms in small controlled populations. In the most recent study, an Italian team performed a double-blind placebo study on 51 boys between the ages of 6 and 12 who'd been diagnosed with both FXS and ADHD. Over the course of 1 year, researchers administered small twice-daily doses of carnitine to the study group and placebos to the control group, assessing their respective symptoms at 1, 6 and 12 months. Each patient was treated in a specialized care facility, and all showed some degree of improvement, but researchers noted that the LAC children fared far better; their hyperactive behaviors were considerably less severe after 1 year of treatment and they were able to pay attention to given stimuli far better than their placebo counterparts. While intelligence ratings did not improve for any of the patients involved, the LAC children displayed heightened social skills. Perhaps most significantly, none of the LAC children experienced any sort of adverse side effects.
This study is encouraging mostly because it appears to offer an alternate treatment procedure for children who desperately need symptomatic relief. The immediate side effects of stimulants like Ritalin (not to mention their long-term influence) are severe enough to warrant concern: insomnia, irritability, headache, dry mouth, nausea, skin rash, heart palpitations, increased blood pressure, social withdrawal... the list goes on. Carnitine, on the other hand, appears to be absolutely safe (except for patients with certain thyroid problems) and at least moderately effective for the treatment of conditions ranging from sexual dysfunction to mild depression. Because of the very specific nature of the subject pool in this study, researchers can only recommend that carnitine be available as a treatment for boys with both ADHD and FXS.
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