Research Gaps in Fragile X Syndrome: An Updated Literature Review to Inform Clinical and Public Health Practice

Details

• Alternative Title:
  J Dev Behav Pediatr
• Personal Author:
  Raspa, Melissa ; Wheeler, Anne ; Okoniewski, Katherine C. ; Edwards, Anne ; Scott, Samantha
• Description:
  Objective
  
  The phenotypic impact of fragile X syndrome (FXS) has been well-documented since the discovery of the FMR1 gene 30 years ago. However, gaps remain in clinical and public health research. The purpose of this literature review was to determine the extent to which these gaps have been addressed and identify targeted areas of future research.
  
  Methods
  
  We conducted an electronic search of several scientific databases using a variety of key words. The search focused on five areas identified as research gaps by an earlier review: (1) diagnosis, (2) phenotypic presentation, (3) familial impact, (4) interventions and treatments, and (5) lifespan perspectives. Inclusion criteria included publication between 2014 and 2020, focus on human subjects, and publication in English. A total of 480 articles were identified, 365 were reviewed, and 112 are summarized in this review.
  
  Results
  
  Results are organized into the following categories: (1) FXS phenotype and subtypes (FXS subtypes, medical profile, cognitive/developmental profile, social and behavioral profile); (2) Needs of adults; (3) Public health needs (clinical diagnosis and newborn screening, healthcare needs and access); (4) Treatment (treatment priorities, pharmacological treatments, behavioral and educational interventions); (5) Families (economic burden, mother-child relationship).
  
  Conclusion
  
  Despite the progress in many areas of FXS research, work remains to address gaps in clinical and public health knowledge. We pose three main areas of focused research, including early detection and diagnosis, determinants of health, and development and implementation of targeted interventions.
  
  
• Keywords:
  Adult Clinical Phenotype Delivery Of Health Care Evidence Gaps Family Needs Fragile X Syndrome Humans Infant, Newborn Phenotype Public Health Needs Public Health Practice Treatment

  More +
• Source:
  J Dev Behav Pediatr. 44(1):e56-e65
• Pubmed ID:
  36219479
• Pubmed Central ID:
  PMC9770151
• Document Type:
  Journal Article
• Funding:
  HHSD2002013M53964B/CC/CDC HHSUnited States/ ; HHSD2002013M53964B/ImCDC/Intramural CDC HHSUnited States/
• Volume:
  44
• Issue:
  1
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:7947fa01195b09006dcc1467b9ffffcae82ecf3f50a2b2b43e3e4f0c806e4cec
• Download URL:
  https://stacks.cdc.gov/view/cdc/123017/cdc_123017_DS1.pdf
• File Type:
  [PDF - 262.08 KB ]