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Systematic review of pharmacological treatments in fragile X syndrome
Jose-Ramon Rueda1, Javier Ballesteros, Maria-Isabel Tejada
1Department of Preventive Medicine and Public Health, University of the Basque Country, Barrio Sarriena S/N, Leioa 48940, Spain. joseramon.rueda@ehu.es
Background:
Fragile X syndrome (FXS) is considered the most common cause of inherited mental retardation. Affected people have mental impairment that can include Attention Deficit and/or Hyperactivity Disorder (ADHD), autism disorder, and speech and behavioural disorders. Several pharmacological interventions have been proposed to treat those impairments.
Methods:
Systematic review of the literature and summary of the evidence from clinical controlled trials that compared at least one pharmacological treatment with placebo or other treatment in individuals with diagnosis of FXS syndrome and assessed the efficacy and/or safety of the treatments. Studies were identified by a search of PubMed, EMBASE and the Cochrane Databases using the terms fragile X and treatment. Risk of bias of the studies was assessed by using the Cochrane Collaboration criteria.
Results:
The search identified 276 potential articles and 14 studies satisfied inclusion criteria. Of these, 10 studies on folic acid (9 with crossover design, only 1 of them with good methodological quality and low risk of bias) did not find in general significant improvements. A small sample size trial assessed dextroamphetamine and methylphenidate in patients with an additional diagnosis of ADHD and found some improvements in those taking methylphenidate, but the length of follow-up was too short. Two studies on L-acetylcarnitine, showed positive effects and no side effects in patients with an additional diagnosis of ADHD. Finally, one study on patients with an additional diagnosis of autism assessed ampakine compound CX516 and found no significant differences between treatment and placebo. Regarding safety, none of the studies that assessed that area found relevant side effects, but the number of patients included was too small to detect side effects with low incidence.
Conclusion:
Currently there is no robust evidence to support recommendations on pharmacological treatments in patients with FXS in general or in those with an additional diagnosis of ADHD or autism.
Insights
Current pharmacological treatments for Fragile X syndrome (FXS) lack robust evidence. While some drugs show promise for associated ADHD or autism, more research is needed to confirm efficacy and safety in FXS patients.
Area of Science:
- Neuroscience
- Genetics
- Pharmacology
Background:
- Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability.
- FXS is associated with attention deficit hyperactivity disorder (ADHD), autism, and behavioral disorders.
- Pharmacological interventions are explored for managing FXS-related impairments.
Purpose of the Study:
- To systematically review and summarize evidence on pharmacological treatments for FXS.
- To assess the efficacy and safety of interventions in individuals diagnosed with FXS.
- To evaluate treatments for FXS, including those with co-occurring ADHD or autism.
Main Methods:
- Systematic literature review of clinical controlled trials.
- Searched PubMed, EMBASE, and Cochrane Databases for "fragile X" and "treatment".
- Assessed risk of bias using Cochrane Collaboration criteria.
Main Results:
- 14 studies met inclusion criteria; 10 on folic acid showed no significant improvements.
- Methylphenidate showed some improvement in ADHD patients, but follow-up was short.
- L-acetylcarnitine showed positive effects in ADHD patients; CX516 showed no difference in autism patients.
Conclusions:
- No robust evidence currently supports pharmacological treatment recommendations for FXS.
- Further research is needed to establish effective and safe treatments for FXS and its comorbidities.
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