TABLE 2

Treatment

Potential ApproachesStrengths and Challenges
Conduct a well-designed study of the efficacy of EI for infants/children with FXS.Strengths
 Could provide evidence for determining the impact of EI on developmental trajectories or behavior.
Challenges
 There is great diversity in the nature and quality of EI programs around the country, and the often low intensity (eg, 1-h/wk home visiting) may not be sufficient to show developmental effects.
 Identifying an effective and accurate way to measure the impact of EI.
 Without NBS, it would be challenging to recruit a large enough study sample to determine if there are statistically significant differences between groups.
Conduct a study to assess the benefit of early, presymptomatic detection on outcomes in a cohort of children differing in age of diagnosis and treatmentStrengths
 Study the impact of early detection in the absence of NBS.
Challenges
 This type of study would require identification through older siblings, which could limit and potentially bias the sample size.
Conduct a study of the efficacy of EI for children with symptoms that overlap with FXS (eg, ASD, sensory sensitivities, anxiety disorders, ADHD)Strengths
 Could provide evidence of importance of early identification for improving outcomes of specific overlapping symptoms.
 Would be easier to get a sufficient sample of children than a study of FXS only.
Challenges
 Variability in the FXS phenotype could lead to selection bias toward those exhibiting specific symptoms.
 If the study does not focus specifically on children with FXS, it could dilute the evidence base.
 The study still would not involve a birth cohort, because it is not possible to conduct NBS for the other conditions listed.
Conduct efficacy trials of new fragile X–specific medications Strengths
 Can determine if a medication is proven to be effective in improving outcomes.
 Identifying effective medication/treatment will impact the clinical utility of an FXS diagnosis, which is a good fit for the current NBS model.
Challenges
 Time; it could be years or possibly decades before medications are available for infants or toddlers.
 Does not take into consideration other types of interventions (OT, PT, behavioral therapy), either administered on their own or in conjunction with medication.
  • Content based on synthesis of available literature and key informant interview responses. ADHD, attention-deficit hyperactivity disorder; ASD, autism spectrum disorder; EI, early intervention; OT, occupational therapy; PT physical therapy.