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A new supplement to the journal Pediatrics focuses on fragile X-associated disorders, some of the most common inherited causes of intellectual disability. The supplement was funded by CDC.

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

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.
[Read article]

Key Findings: Prevalence of Fragile X Premutation Prevalence of CGG Expansions of the FMR1 Gene in a US Population-Based Sample
Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.
American Journal of Medical Genetics Part B Neuropsychiatric Genetics; 2012 Jul;159B(5):589-97.
Seltzer, M, et al.
[Read article]

Fragile X Myths
Learn how CDC and the American Academy of Pediatrics join forces to debunk common myths about fragile X syndrome.
(Published: July 18, 2016)

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: July 20, 2015)

Public Health Research on Fragile X Syndrome
(Published: October 30, 2014)

How much do you know about Fragile X?
Take the quiz and find out.
(Published: July 22, 2013)

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.

Publications

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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.
[Read Article]

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.
[Read Article]

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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Emergency Department and Inpatient Hospitalizations for Young People with Fragile X Syndrome
McDermott S, Hardin JW, Royer JA, Mann JR, Tong X, Ozturk OD, Ouyang L.
American Journal on Intellectual and Developmental Disabilities, 2015 May;120(3):230-43.
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Development of a Tool to Describe Overall Health, Social Independence and Activity Limitation of Adolescents and Young Adults with Disability
Deroche CB, Holland MM, McDermott S, Royer JA, Hardin JW, Mann JR, Salzberg D, Ozturk O, Ouyang L.
Research in Developmental Disabilities, 2015 Mar;38:288-300.
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Fragile X Syndrome: A Review of Associated Medical Problems
Kidd SA, Lachiewicz A, Barbouth D, Blitz RK, Delahunty C, McBrien D, Visootsak J, Berry-Kravis E.
Pediatrics, 2014 Nov;134(5):995-1005.
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Use of State Administrative Data Sources to Study Adolescents and Young Adults with Rare Conditions
Royer JA, Hardin JW, McDermott S, Ouyang L, Mann JR, Ozturk OD, Bolen J.
Journal of General Internal Medicine, 2014 Aug;29 Suppl 3:S732-8.
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A Comparison of Family Financial and Employment Impacts of Fragile X Syndrome, Autism Spectrum Disorders, and Intellectual Disability.
Ouyang L, Grosse SD, Riley C, Bolen B, Bishop E, Raspa M, Bailey DB Jr.
Research in Developmental Disabilities, 2014 Jul;35(7):1518-27.
[Read Article]

More Fragile X Syndrome Articles

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

CDC Articles

Find more articles that have been published by CDC authors within the National Center on Birth Defects and Developmental Disabilities by clicking here.

 

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