Details:

Alternative Title:
Pediatrics
Personal Author:
Riley, Catharine ; Wheeler, Anne
Riley, Catharine ; Wheeler, Anne Less -
Description:
Background

Fragile X syndrome (FXS) is the most common known inherited form of intellectual disability. Early identification is an important step in linking FXS individuals with appropriate and timely medical and social services. Newborn screening (NBS) is 1 approach that has been used for other conditions to facilitate early identification.

Methods

A literature review was conducted to identify issues, barriers, challenges, and approaches to addressing challenges related to NBS for FXS. Search terms included: fragile X syndrome, FMR1, newborn screening, screening, and genetic testing. To supplement the literature review, 9 key informant interviews were conducted. Information gathered through these interviews supplemented what was identified in the literature. Information from both the literature review and supplemental interviews was reviewed by 3 researchers who discussed and came to consensus on thematic areas and categorization of issues.

Results

The barriers and challenges related to NBS for FXS identified in the literature and by experts and stakeholders are categorized into 5 thematic areas: public health burden, treatment, timing, screening/testing methodologies, and translating results. Summaries of these issues and barriers are provided, along with potential approaches to addressing them.

Conclusions

The issues and barriers described in this article highlight limited areas of knowledge that need be addressed to improve our understanding of FXS and the potential benefit of NBS. The landscape of NBS for FXS could be influenced by a series of research findings over time or a larger breakthrough that demonstrates an effective targeted treatment that has to be implemented early in life.


Subjects:
[+]
Cost Of Illness Early Diagnosis Early Medical Intervention Fragile X Mental Retardation Protein Fragile X Syndrome Health Services Accessibility Humans Infant, Newborn Neonatal Screening
Source:
Pediatrics. 139(Suppl 3):S207-S215.
Pubmed ID:
28814541
Pubmed Central ID:
PMC5599128
Document Type:
Journal Article
Funding:
CC999999/Intramural CDC HHS/United States
Place as Subject:
United States
Collection(s):
CDC Public Access
Main Document Checksum:
[+]
urn:sha256:f8bcb553a9534b227382ea538aa42adc8b4492ac31634256c1de7853775a8827
Download URL:
https://stacks.cdc.gov/view/cdc/48211/cdc_48211_DS1.pdf
File Type:

Supporting Files

• nihms886867.nxml

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