Summary of Pediatrics Supplement on Fragile X Syndrome

A smiling boy

In June of 2017, a supplement to the journal Pediatrics focuses on fragile X-associated disorders, some of the most common inherited causes of intellectual disability. Funded by the Centers for Disease Control and Prevention (CDC), this supplement is a one-stop-shop for information on these conditions.

Articles in the supplement are listed below. Click on the name of each article for full access.

The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary
The field of fragile X syndrome (FXS) research has grown in past decades; however, there is still much to learn about how public health action can improve the health and quality of life for those living with FXS. Data are limited on the number of people living with FXS, the types and frequencies of other conditions that occur in people with FXS, and the impact of FXS on individuals, families, and healthcare systems. This paper includes suggestions from partners on the future of public health research on FXS.

Public Health Literature Review of Fragile X Syndrome
This paper outlines what we know and don’t know about full mutation FXS. The authors searched the existing scientific literature and organized FXS research into five topic areas: developmental features, social-emotional features, medical features, treatment and interventions, and the impact of FXS on the family.

Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families
This paper is a review of the scientific literature on the premutation of FMR1, the gene that causes fragile X-associated disorders. Premutation of the FMR1 gene is much more common than the full mutation. Pediatricians are more likely to see children with premutation of FMR1 than children with the full mutation in their practice, but their premutation status may not be known. The paper summarizes implications of the premutation for pediatric healthcare professionals. Literature is divided into five topic areas: genetics and epidemiology, characteristics of individuals with the premutation, implications for carrier parents of children with FXS, implications for the extended family, and implications for pediatricians.

FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome
This paper describes in detail the Fragile X Online Registry With Accessible Research Database, known as FORWARD. FORWARD is the largest source of clinical and parent-reported data on people with FXS in the United States. These data can be used to better understand the impact of other conditions that occur in people with FXS, the impact of having FXS on day-to-day life, and health outcomes for people with FXS. This paper also explains how FORWARD data can be used to improve the health and quality of life of people with FXS and their relatives and caregivers.

Autism Spectrum Disorder in Fragile X Syndrome: Co-occurring Conditions and Current Treatment
This paper presents new research on autism spectrum disorder among people with FXS, using data from FXS specialty clinics across the United States. The paper focuses on other conditions that occur in people with both FXS and autism spectrum disorder. One finding indicates that people with both FXS and autism were more likely than those with FXS alone to have seizures, sleep problems, and aggressive behavior.

Assessing the Fragile X Syndrome Newborn Screening Landscape
Early identification of young children with FXS is an important step in connecting people with FXS to medical care and social services that can help them reach their full potential. Newborn screening is one approach used for early identification of infants with other conditions. This paper outlines the specific challenges and opportunities for FXS newborn screening, along with potential approaches to address them.

Fragile X Newborn Screening: Lessons Learned from a Multi-Site Screening Study
This paper describes the lessons learned from a pilot study designed to help understand the potential benefits and challenges of newborn screening for FXS. Among the factors that may impact the success of a newborn screening program for FXS are the consent process for FXS screening, reasons for accepting or declining screening, development and evaluation of a decision aid for parents, how often FMR1 premutation carriers are found by newborn screening, the fathers’ participation in the consent process, family follow-up, and mothers’ reactions to screening.