Advancing Treatment and Care for Fragile X Syndrome

Fragile X-associated disorders (FXD) are among the most common inherited causes of intellectual disability or problems with learning, thinking, reasoning, or remembering. A supplement published in Pediatrics and funded by the Centers for Disease Control and Prevention (CDC) contains an overview of research on FXD and provides a resource for healthcare professionals and researchers in their efforts to advance knowledge, treatment, and quality of life for those with FXD.

The supplement contains

• Research on individuals with both fragile X syndrome (FXS) and autism spectrum disorder (ASD),
• A description of what’s needed and the barriers and challenges to have FXS included in newborn screening,
• Expert reviews of the scientific literature on FXD, and
• An outline of the methods used by staff at FXS specialty clinics collecting data for the Fragile X Online Registry With Accessible Research Database, known as FORWARD. FORWARD is the largest database of individuals living with FXD in the United States and is funded by CDC.

Fragile X syndrome and autism spectrum disorder

Most of the prior research on individuals with both FXS and ASD came from small studies. Data included in the supplement came from a large number of individuals with FXS who receive care at FXS specialty clinics. This physician- and parent-reported information from FORWARD on almost 600 individuals with FXS between 3 and 21 years of age¹ found that

• Just over 4 in 10 individuals had both FXS and ASD.
• Individuals with both FXS and ASD were about 3 times more likely to experience seizures than individuals with just FXS.
• Approximately 4 in 10 individuals with both FXS and ASD had sleep problems that required treatment, compared to 3 in 10 individuals with just FXS.
• There was a higher proportion of attention problems, hyperactivity, hypersensitivity/over reactivity, perseverative/obsessive compulsive behavior, and irritability/aggressive behavior/agitation/self-injury among those with both FXS and ASD as compared to those with just FXS.
• Aggressive/disruptive behavior was the only behavior treated with medicine more often in individuals with both FXS and ASD compared to those with just FXS. About 4 in 10 individuals with both FXS and ASD were treated with medicine for aggressive/disruptive behavior compared with less than 2 in 10 individuals with just FXS.
• Applied Behavior Analysis may be underutilized in children with both FXS and ASD.

Why is this publication important?

Together we can improve care for individuals with FXD. The more we know, the better that care can be.

• Healthcare professionals: The supplement can be a resource as you provide care and treatment to your patients with FXD. The data on the co-occurrence of ASD with FXD may assist with future care decisions. The supplement also includes expert reviews of the scientific literature on full mutation fragile X syndrome and the scientific literature on premutation fragile X syndrome.
• Families: Families have a role to play in improving care for their family members with fragile X and related conditions. Depending on your family members’ diagnosis, you can read the research on ASD and FXS, the scientific literature on full mutation fragile X syndrome, or the scientific literature on premutation fragile X syndrome. The supplement also includes a paper outlining the scientific and research developments that need to be in place to consider newborn screening for FXS.
• Researchers: More research is needed to advance our understanding of FXD and improve the care and treatment for those living with these conditions and their families. The FORWARD database will assist in this effort and is now available to researchers. You can read the FORWARD methodology paper for details on the dataset, and read the stakeholder meeting summary which outlines gaps in public health knowledge. In addition, most of the papers in the supplement indicate where additional research is needed.

Resources for more information

• Current guidance from the American Academy of Pediatrics: Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays
• Fragile X Myth Busters for families and health professionals
• CDC’s homepage for fragile X syndrome
• CDC’s homepage for autism spectrum disorder
• An overview of CDC’s fragile X program: Fragile X Syndrome: A Public Health Challenge [PDF – 803 KB, 2 pages]
• FORWARD (Fragile X Online Registry With Accessible Research Database)
• National Fragile X Foundation
• FRAXA Research Foundation

Reference

1. Kaufmann WE, Kidd SA, Andrews HF, Budimirovic DB, Esler A, Haas-Givler B, Stackhouse T, Riley C, Peacock G, Sherman SL, Brown T, Berry-Kravis E. Autism spectrum disorder in fragile X syndrome: Co-occurring conditions and current treatment. Pediatrics. 2017;139(Suppl 3): S194-206.