Details:

Alternative Title:
Pediatrics
Personal Author:
Raspa, Melissa ; Wheeler, Anne C. ; Riley, Catharine
Raspa, Melissa ; Wheeler, Anne C. ; Riley, Catharine Less -
Description:
OBJECTIVES

The purpose of this systematic literature review is to describe what is known about fragile X syndrome (FXS) and to identify research gaps. The results can be used to help inform future public health research and provide pediatricians with up-to-date information about the implications of the condition for individuals and their families.

METHODS

An electronic literature search was conducted, guided by a variety of key words. The search focused on 4 areas of both clinical and public health importance: (1) the full mutation phenotype, (2) developmental trajectories across the life span, (3) available interventions and treatments, and (4) impact on the family. A total of 661 articles were examined and 203 were included in the review.

RESULTS

The information is presented in the following categories: developmental profile (cognition, language, functional skills, and transition to adulthood), social-emotional profile (cooccurring psychiatric conditions and behavior problems), medical profile (physical features, seizures, sleep, health problems, and physiologic features), treatment and interventions (educational/behavioral, allied health services, and pharmacologic), and impact on the family (family environment and financial impact). Research gaps also are presented.

CONCLUSIONS

The identification and treatment of FXS remains an important public health and clinical concern. The information presented in this article provides a more robust understanding of FXS and the impact of this complex condition for pediatricians. Despite a wealth of information about the condition, much work remains to fully support affected individuals and their families.


Subject:
[+]
Adult Article Caregivers Child Cross-Sectional Studies Delivery Of Health Care Developmental Disabilities Diagnosis, Differential DNA Mutational Analysis Female Fragile X Mental Retardation Protein Fragile X Syndrome Genetic Testing Humans Language Development Disorders Male Parenting Phenotype Prognosis Public Health Social Adjustment Trinucleotide Repeats
Source:
Pediatrics. 139(Suppl 3):S153-S171.
Pubmed ID:
28814537
Pubmed Central ID:
PMC5621610
Document Type:
Journal Article
Funding:
CC999999/Intramural CDC HHS/United States
Collection(s):
CDC Public Access
Main Document Checksum:
[+]
urn:sha256:0aabc69dfa982ecd3fcc3258099fef66d299c0bff54fd26da3fa683c6e6643ce
Download URL:
https://stacks.cdc.gov/view/cdc/48451/cdc_48451_DS1.pdf
File Type:

Supporting Files

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