Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Hot Topics of the Day|PHGKB
Search PHGKB:

Archive

Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

Sign up MyPHGKB to receive the daily hot topic email alert.

Search Archive:
Archived Hot Topics of the Day By Date
52 hot topic(s) found with the query "Fragile x syndrome"

Item of Interest: Now Available: NIH Research Plan on Fragile X and Associated Conditions
NIH, November 2019 Brand (Posted: Nov-15-2019 7AM)

The overarching goal of the plan is to develop a more comprehensive picture of the FMR1 gene and how it affects health. The plan also identifies activities that can enhance existing efforts and explore new avenues for improving the health of individuals affected by FMR1-related conditions.


New genetic analysis improves diagnosis of intellectual disability
Karolinska Institute, November 11, 2019 (Posted: Nov-12-2019 8AM)

Most individuals with an intellectual disability are offered a clinical examination using so-called gene dose array and DNA analysis for Fragile X syndrome. These genetic tests produce a molecular causal diagnosis in about 12% of cases Whole-genome sequencing can be used to diagnose intellectual disability more accurately than other methods.


What to Tell a Parent Who Worries a Young Child Has Autism.
Estes Annette et al. JAMA psychiatry 2019 Aug (Posted: Aug-12-2019 8AM)

If a child is diagnosed with ASD, medical evaluation can determine whether co-occurring conditions, such as sensory motor difficulties, hearing problems, gastrointestinal symptoms, or seizures, are present. Genetic screening may identify known genetic syndromes that are associated with autism (eg, fragile X syndrome.


Preventive care services and health behaviors in children with fragile X syndrome.
Gilbertson Kendra E et al. Disability and health journal 2019 May (Posted: Jul-19-2019 10AM)

This CDC study is the first description of preventive care services specifically received by children and young adults with fragile X syndrome (FXS). 75% of the sample met dental care guidelines, 55.4% met influenza vaccination guidelines, 92.1% met immunization guidelines, and 24.4% met physical activity (PA) guidelines.


Key Findings: Preventive Care Services and Health Behaviors in Children with Fragile X Syndrome
CDC, July 2019 Brand (Posted: Jul-17-2019 8AM)

Only one in four children and young adults with FXS met the physical activity guidance from the United States Department of Health and Human Service. Slightly more than half of the children and young adults with FXS met the CDC recommendation for an annual influenza vaccination.


Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis.
Zhang Lei et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Feb (Posted: Feb-20-2019 11AM)


A Description of the Educational Setting Among Individuals With Fragile X Syndrome
R Nash et al. AJDD, January 2019 (Posted: Jan-15-2019 1PM)


Early Identification of Fragile X Syndrome through Expanded Newborn Screening.
Okoniewski Katherine C et al. Brain sciences 2019 Jan 9(1) (Posted: Jan-09-2019 9AM)


Fragile X Symptoms May be Helped with New Pharmacological Approach
GEN News, July 2018 (Posted: Jul-22-2018 2PM)


CDC Disease of the Week: Fragile X Syndrome
Brand (Posted: Jul-13-2018 11AM)


Fragile X Syndrome Therapy Granted Orphan Drug Designation
M Shanley, RareDR, Apr 3, 2018 (Posted: Apr-08-2018 0PM)


Special issue: Fragile X syndrome
Science Signaling, Nov 7, 2017 (Posted: Nov-07-2017 3PM)


Public Health Literature Review of Fragile X Syndrome.
Raspa Melissa et al. Pediatrics 2017 Jun 139(Suppl 3) S153-S171 (Posted: Aug-30-2017 9AM)


Standardization of capillary electrophoresis for diagnosis of fragile X syndrome in the Brazilian public health system.
Gigonzac Marc Alexandre Duarte et al. Electrophoresis 2016 Dec 37(23-24) 3076-3078 (Posted: Aug-23-2017 9AM)


Assessing the Fragile X Syndrome Newborn Screening Landscape.
Riley Catharine et al. Pediatrics 2017 Jun 139(Suppl 3) S207-S215 (Posted: Aug-23-2017 9AM)


Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.
Bailey Donald B et al. Pediatrics 2017 Jun 139(Suppl 3) S216-S225 (Posted: Aug-23-2017 9AM)


Fragile X Syndrome
CDC portal Brand (Posted: Aug-05-2017 9AM)


Fragile X syndrome: an overview and update of the FMR1 gene.
Mila Montserrat et al. Clinical genetics 2017 Jun (Posted: Aug-05-2017 9AM)


Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.
Metcalfe Sylvia A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun (Posted: Aug-05-2017 9AM)


Fragile X: Experts say all women should be offered screening for genetic condition
ABC News Australia, August 5, 2017 (Posted: Aug-05-2017 8AM)


Advancing Treatment and Care for Fragile X Syndrome
Brand (Posted: Jun-05-2017 0PM)


The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary
C Riley et al, Pediatrics, June 2017 (Posted: Jun-01-2017 11AM)


Summary of Pediatrics Supplement
Brand (Posted: Jun-01-2017 11AM)


A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan.
Tzeng Ching-Cherng et al. Clinical genetics 2017 Jan (Posted: Feb-01-2017 11AM)


A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors.
Alfaro Arenas Ramona et al. Journal of genetic counseling 2016 Oct (Posted: Oct-12-2016 11AM)


Importance of a specialty clinic for individuals with fragile X syndrome.
Visootsak Jeannie et al. American journal of medical genetics. Part A 2016 Sep (Posted: Sep-21-2016 10AM)


The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology.
Grigsby Jim et al. The Clinical neuropsychologist 2016 Aug (6) 815-33 (Posted: Jul-18-2016 10AM)


CDC and AAP Bust Fragile X Myths
Brand (Posted: Jul-18-2016 10AM)


"It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare.
Archibald Alison D et al. Journal of community genetics 2016 Feb (Posted: Feb-10-2016 9AM)


Validation of a Commercially Available Screening Tool for the Rapid Identification of CGG Trinucleotide Repeat Expansions in FMR1.
Lim Grace X Y et al. The Journal of molecular diagnostics : JMD 2015 May 17(3) 302-14 (Posted: Jan-20-2016 11AM)


Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.
Chandrasekara C H W M R Bhagya et al. PloS one 2015 10(12) e0145537 (Posted: Dec-29-2015 11AM)


Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder
Rockville (MD):Agency for Healthcare Research and Quality (US) 2015 Jun (Posted: Jul-20-2015 2PM)


Fragile X syndrome: a review of associated medical problems.
Kidd Sharon A et al. Pediatrics 2014 Nov (5) 995-1005 (Posted: Jul-20-2015 1PM)


Cholesterol levels in fragile X syndrome.
Berry-Kravis Elizabeth et al. Am. J. Med. Genet. A 2015 Feb (2) 379-84 (Posted: Jul-20-2015 1PM)


Uncovering the evidence for behavioral interventions with individuals with fragile X syndrome: a systematic review.
Moskowitz Lauren J et al. Res Dev Disabil 2015 Mar 223-41 (Posted: Jul-20-2015 1PM)


Treatment of the psychiatric problems associated with fragile X syndrome.
Hagerman Randi J et al. Curr Opin Psychiatry 2015 Mar (2) 107-12 (Posted: Jul-20-2015 1PM)


Socio-economic burden of rare diseases: A systematic review of cost of illness evidence.
Angelis Aris et al. Health Policy 2015 Jul (7) 964-979 (Posted: Jul-20-2015 1PM)


Autism Spectrum Disorder (ASD) and Fragile X Syndrome (FXS): Two Overlapping Disorders Reviewed through Electroencephalography-What Can be Interpreted from the Available Information?
Devitt Niamh Mc et al. Brain Sci 2015 (2) 92-117 (Posted: Jul-20-2015 1PM)


Fragile X premutation carriers: A systematic review of neuroimaging findings.
Brown Stephanie S G et al. J. Neurol. Sci. 2015 May 15. (1-2) 19-28 (Posted: Jul-20-2015 1PM)


Emerging pharmacologic treatment options for fragile X syndrome.
Schaefer Tori L et al. Appl Clin Genet 2015 75-93 (Posted: Jul-20-2015 1PM)


Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back.
Gross Christina et al. Neurotherapeutics 2015 Jul (3) 584-608 (Posted: Jul-20-2015 1PM)


Ethical and Policy Issues in Newborn Screening of Children for Neurologic and Developmental Disorders.
Ross Lainie Friedman et al. Pediatr. Clin. North Am. 2015 Jun (3) 787-798 (Posted: Jul-02-2015 1PM)


Autism Spectrum Disorder (ASD) and Fragile X Syndrome (FXS): Two Overlapping Disorders Reviewed through Electroencephalography-What Can be Interpreted from the Available Information?
Devitt Niamh Mc et al. Brain Sci 2015 (2) 92-117 (Posted: Apr-02-2015 1PM)


CDC Information: It's a Family Thing: Ruth's Story
Brand (Posted: Feb-25-2015 0PM)


Key Findings: A comparison of family, financial, and employment impacts of fragile X syndrome, autism, and intellectual disability
Brand (Posted: Feb-25-2015 0PM)


Key Findings: Prevalence of Fragile X Premutation Prevalence of CGG Expansions of the FMR1 Gene in a US Population-Based Sample
Brand (Posted: Feb-25-2015 0PM)


Public Health Research on Fragile X Syndrome
Brand (Posted: Feb-25-2015 0PM)


Fragile X Syndrome (FXS)
Brand (Posted: Feb-25-2015 0PM)


Fragile X syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan-01-2011 0AM)


Fragile X syndrome type 3
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan-01-2011 0AM)


Fragile X syndrome type 2
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan-01-2011 0AM)


Fragile X syndrome type 1
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan-01-2011 0AM)



Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
TOP