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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.

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57 hot topic(s) found with the query "Fragile x syndrome"

Underdiagnosis of autism in children with fragile X syndrome reveals need for better education, early screening
E Bluvas, Medical Xpress, August 2023 (Posted: Sep 01, 2023 0PM)

From the article: A recent study "conducted comprehensive, best-practice clinical autism diagnostic assessments in young males (ages 15-24) with fragile X syndrome (i.e., the most common single-gene cause of autism spectrum disorder and other intellectual disabilities). The study found that, although 75 percent of participants met criteria for autism through the research protocol, only 31 percent had been identified as having autism in the community."

Social and physical predictors of mental health impact in adult women who have an FMR1 premutation
C Kraan et al, Genetics in Med Open, August 26, 2023 (Posted: Aug 29, 2023 11AM)

From the abstract: "Clear understanding of mental health phenotypes and associated socioeconomic, physical health and wellbeing impacts in adult women with an FMR1 premutation (PM) is needed for counselling and primary healthcare. This is a survey of 137 participants. Depression was found in ~30% and social anxiety in ~38%. With depression status the outcome variable, strongest associations were for low education, diagnosis of migraine, diagnosis of irritable bowel syndrome (IBS) and self-reported hearing loss symptoms."

Fragile X Syndrome – Moving Research FORWARD
CDC, July 2023 Brand (Posted: Jul 10, 2023 9AM)

Fragile X syndrome (FXS) is a genetic disorder that is one of the most common causes of inherited intellectual disability. FXS is rare—with fewer than 200,000 newly identified cases per year in the United States. There are still many unanswered questions about the effect of FXS on the day-to-day lives of people living with it and their families. Understanding more about the signs and symptoms of FXS can help doctors and researchers identify FXS earlier and improve the health and well-being of people with FXS.

Fragile X syndrome: Learning what families need, one person at a time.
CDC, July 2022 Brand (Posted: Jul 29, 2022 11AM)

Fragile X syndrome (FXS) is a rare genetic disorder that has a major effect on a person’s life. It 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. Learn what CDC and partners are doing to learn more about FXS, one case at a time.

Parent clinical trial priorities for fragile X syndrome: a best–worst scaling
E. Turbitt et al, EJHG, June 24, 2021 (Posted: Jun 24, 2021 7AM)

Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size
EG Allen et al, Genetics in Medicine, April 29, 2021 (Posted: Apr 30, 2021 7PM)

Women with 70-100 CGG repeats were at the highest risk for FXPOI using various statistical models to compare average age at menopause and risk of FXPOI, with women with 85-89 repeats being at the highest risk. Importantly, women with <65 repeats or >120 repeats did not have a significantly increased risk for FXPOI compared to women with <45 repeats.

Artificial intelligence-assisted phenotype discovery of fragile X syndrome in a population-based sample.
Movaghar Arezoo et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 3 (Posted: Mar 29, 2021 6AM)

We mined the longitudinal electronic health records from more than one million individuals to investigate the health characteristics of patients who have been clinically diagnosed with FXS. Additionally, using machine-learning approaches, we created predictive models to identify individuals with FXS in the general population. We identified associations of FXS with a wide range of medical conditions including circulatory, endocrine, digestive, and genitourinary. We successfully created predictive models to identify cases five years prior to clinical diagnosis of FXS.

Genetic modifiers in rare disorders: the case of fragile X syndrome.
Crawford Hayley et al. European journal of human genetics : EJHG 2020 Aug (Posted: Aug 31, 2020 9AM)

This study suggests that common genetic variation in the COMT genotype affecting dopamine levels in the brain may contribute to the variability of challenging and repetitive behaviours and interest and pleasure in 64 males with 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.

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)

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)

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)

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)

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

Public Health Research on Fragile X Syndrome
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)

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

Fragile X syndrome type 1
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 3
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

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

Fragile X syndrome
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 Public Health Genomics Branch 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.
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