TABLE 1

Public Health Impact

Potential ApproachesStrengths and Challenges
Conduct an anonymous study by using dried blood spots approved for research use.Strength
 If conducted by a large state or multiple states, it could be done in a relatively short period of time.
 A large sample would make it possible to stratify by sex and ethnicity.
Challenges
 Determining a robust estimate of FXS prevalence would require hundreds of thousands samples.
 Cost.
 An anonymous study would not allow for return of results to individuals/families.
Conduct a large statewide study of NBS.Strengths
 In addition to prevalence data, this study design could identify affected children, allowing for the possibility of studies to determine the efficacy of earlier identification and intervention.
 Could elucidate the benefits of avoiding a diagnostic odyssey.
Challenges
 Informed consent.
 If the study looks at efficacy of early identification and intervention, linking follow-up support systems and intervention programs could be a challenge.
 Cost.
  • Content based on synthesis of available literature and key informant interview responses.