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
File Type:

Supporting Files

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