Articles About Fragile X Syndrome

Pediatrics Supplement

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

Read short descriptions of each article and access to the full content.

Key Findings

Key Findings: Preventive Care Services and Health Behaviors in Children with Fragile X Syndrome
Researchers from the Centers for Disease Control and Prevention (CDC) and other organizations present data on preventive services received by children and young adults with fragile X syndrome (FXS). This research can help clinicians identify preventive care services that their patients with FXS may need.

Key Findings: 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 new supplement published in Pediatrics and funded by the Centers for Disease Control and Prevention (CDC) contains some of the latest research on FXD and will be a wide-ranging resource for healthcare professionals and researchers in their efforts to advance knowledge, treatment, and quality of life for those with FXD.

Key Findings: A Comparison of Family, Financial, and Employment Impacts of Fragile X Syndrome, Autism, and Intellectual Disability
Healthcare professionals should be aware of the family financial expense when addressing the complex needs of children living with fragile X syndrome (FXS). Researchers at the National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention (CDC), along with RTI International, recently published findings from a study on the financial expense of caring for a child living with fragile X syndrome as compared to caring for a child with autism spectrum disorder (ASD), a child with intellectual disability (ID), or a child with both ASD and ID.
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Feature Articles

Five Things You May Not Know About Fragile X Syndrome
As part of CDC’s work to educate people about the condition and to celebrate fragile X awareness month, here are five things you may not know about FXS.

Fragile X syndrome (FXS): Learning what families need, one person at a time.
FXS is the most common cause of inherited intellectual disability, yet there are still many unanswered questions about its effect on the day-to-day lives of people living with FXS and their families.

Fragile X Myths
Learn how CDC and the American Academy of Pediatrics join forces to debunk common myths about fragile X syndrome.
(Published: March 11, 2019)

Ruth’s Story
Read one family’s story of living with fragile X syndrome and find out what CDC is doing about this condition.
(Published: May 21, 2018)

Scientific Articles

*These articles are either from CDC-funded research or have at least one CDC author. The articles are listed by date of publication, most current first.



The Association Between Mosaicism Type and Cognitive and Behavioral Functioning Among Males with Fragile X Syndrome
Meng L, Kaufmann WE, Frye RE, Ong K, Jennifer W. Kaminski JW, Velinov M, Berry-Kravis E. American Journal of Medical Genetics (Part A). Published online December 8, 2021
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Fragile X Syndrome-Associated Emergency Department Visits in the United States, 2006–2011
Do TQN, Riley C, Paramsothy P, Ouyang L, Bolen J, Grosse SG. American Journal of Intellectual and Developmental Disabilities, 2020 Mar; 125(2): 103–108.
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A Description of the Educational Setting among Individuals with Fragile X Syndrome
Nash R, Riley C, Gilbertson K, Paramsothy P, Raspa M, Wheeler AC, Dziuban EJ, Peacock, G.. American Journal of Intellectual and Developmental Disabilities, 2019; 124(1), 57-76.
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Preventive Care Services and Health Behaviors in Children with Fragile X Syndrome.
Gilbertson KE, Jackson HL, Dziuban EJ, Sherman SL, Berry-Kravis EM, Erickson CA, Valdez R.
Disability and Health Journal. 2019 May 3.
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Pediatrics Supplement, Published June 1, 2017

Assessing the Fragile X Syndrome Newborn Screening Landscape
Riley C, Wheeler A.
Pediatrics, 2017 June 1;139(Supplement 3):s207-15.
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Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment
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.
Pediatrics, 2017 June 1;139(Supplement 3):s194-206.
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FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome
Sherman SL, Kidd SA, Riley C, Berry-Kravis E, Andrews HF, Miller RM, Lincoln S, Swanson M, Kaufmann WE, Brown WT.
Pediatrics, 2017 June 1;139(Supplement 3):s183-93.
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Fragile X Newborn Screening: Lessons Learned from a Multi-Site Screening Study
Bailey DB Jr, Berry-Kravis E, Gane LW, Guarda S, Hagerman R, Powell CM, Tassone F, Wheeler A.
Pediatrics, 2017 June 1;139(Supplement 3):s216-25.
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Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families
Wheeler A, Raspa M, Hagerman R, Mailick M, Riley C.
Pediatrics, 2017 June 1;139(Supplement 3):s172-82.
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Public Health Literature Review of Fragile X Syndrome
Raspa M, Wheeler A, Riley C.
Pediatrics, 2017 June 1;139(Supplement 3):s153-171.
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The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary
Riley C, Mailick M, Berry-Kravis E, Bolen J.
Pediatrics, 2017 June 1;139(Supplement 3):s147-52.
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Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States
Reichard A, McDermott S, Ruttenber M, Mann J, Smith MG, Royer J, Valdez R.
JMIR Public Health and Surveillance, 2016 Aug 29;2(2):e151.
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More Fragile X Syndrome Articles

Visit www.pubmed.comexternal icon and use the search term “fragile X” to find additional articles on fragile X syndrome.

CDC Articles

Search a database of articles that have been published by CDC authors within the National Center on Birth Defects and Developmental Disabilities from 1990 to present.