ArticleIntractable & rare diseases research2015
Identification of a male with fragile X syndrome through newborn screening.
Article in Intractable & rare diseases research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Cascade health service use in family members following genetic testing in children: a scoping literature review.European journal of human genetics : EJHG · 2021Article
- Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Fragile X syndrome: a review of clinical and molecular diagnoses.Italian journal of pediatrics · 2017Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
A pilot newborn screening (NBS) study for fragile X syndrome was recently conducted at the University of California, Davis Medical Center. The screening study identified a case of a male with the full mutation completely methylated and no detectable expression of the fragile X mental retardation-1 (FMR1) gene. The patient was initially seen in clinic at the MIND Institute, for medical follow-up and a genetic counseling session at the chronological age of 3 months. Since then, he has been seen in clinic every six months for follow up, medical examination and developmental assessments. Longitudinally administered developmental testing of the infant has revealed persistent delays in development, consistent with fragile X syndrome. Cascade testing revealed that the patient's mother and two siblings also have the full mutation. The patient has been receiving speech and language therapy, combined with physical and occupational therapies on a weekly basis since the age of one year. He is currently being treated with 2.5 mg of sertraline, which has been demonstrated to be helpful for improving language in young children with the syndrome.
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Registered trials
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