New research on Fragile X syndrome reinforces importance of early detection

(Vanderbilt University) New insights into the long-lasting effects of Fragile X syndrome on connections in the brain during early development highlight the importance of early detection and treatment.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news

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This article also addresses the neuropharmacological potential of taurine analogs.Graphical abstract
Source: Redox Biology - Category: Biology Source Type: research
King of the Spanish Habsburg dynasty and sovereign of the overseas Spanish Empire, Charles II of Spain, was physically disabled, disfigured, mentally retarded, and he proved impotent. He is known in history asEl Hechizado (the Bewitched) because both him and the people believed that his mental and physical incapacity were due to a “witchcraft act.” Although several authors speculated about different diseases, most of them genetic such as pituitary hormone deficiency, distal renal tubular acidosis, Klinefelter syndrome, fragile X syndrome, or male XX hermaphroditism, the hypothesis of hydrocephalus was not taken...
Source: European Neurology - Category: Neurology Source Type: research
Fragile X syndrome(FXS) is most common congenital hereditary disease of low intelligence after Down Syndrome. Its main pathogenic gene is Fragile X mental retardation 1 (FMR1) gene associated with intellectual disability, autism and Fragile X-related primary ovarian insufficiency (FXPOI) and Fragile X-associated tremor/ataxia syndrome (FXTAS). Fmr1 gene transcription leads to the absence of fragile X mental retardation protein (FMRP). How to relieve or cure disorders associated with FXS has also become a clinically disturbing problem. Previous studies have recently shown that Long noncoding RNAs (lncRNA) contribute to the ...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
A clear transdermal cannabidiol (CBD) gel improved emotional and behavioral symptoms in children and adolescents with fragile X syndrome and was well tolerated in a phase 2 study.Medscape Medical News
Source: Medscape Internal Medicine Headlines - Category: Internal Medicine Tags: Psychiatry News Source Type: news
ConclusionMetformin may be a candidate drug for treatment of several types of symptoms in individuals with FXS.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Abstract Studies of X-linked pedigrees were the first to identify genes implicated in intellectual disability (ID) and autism spectrum disorder (ASD). However, some pedigrees present a huge clinical variability between the affected members. This intrafamilial heterogeneity may be due to cooccurrence of two disorders. In the present study, we describe a multiplex X-linked pedigree in which three siblings have ID, ASD and dysmorphic features but with variable severity. Through Fragile X syndrome test, we identified the full FMR1 mutation in only two males. Whole exome sequencing allowed us to identify a novel hemizy...
Source: Molecular Biology Reports - Category: Molecular Biology Authors: Tags: Mol Biol Rep Source Type: research
Similar improvements seen in groups receiving adaptive, nonadaptive cognitive training program
Source: The Doctors Lounge - Psychiatry - Category: Psychiatry Tags: Neurology, Pathology, Pediatrics, Psychiatry, Journal, Source Type: news
WEDNESDAY, May 15, 2019 -- No significant difference in outcomes was observed in children and adolescents with fragile X syndrome (FXS) receiving adaptive versus nonadaptive in-home cognitive training, according to a study published online April 15...
Source: Drugs.com - Pharma News - Category: Pharmaceuticals Source Type: news
Conclusion: ASD, ADHD and anxiety symptoms relate inconsistently to social avoidance behaviors, providing new insight toward the debate of independence or overlap among these disorders in FXS and other disorders (i.e., ASD). The results suggest that the nuanced profile of the developmental and temporal aspects of social avoidance may inform more the accuracy of differential diagnoses of comorbid psychiatric disorders in FXS.
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
The Food and Drug Administration granted Fast Track Designation Monday to Zynerba Pharmaceuticals' lead synthetically produced cannabinoid therapy candidate The designation applies to the Devon's company's new drug candidate Zygel as a potential treatment for behavioral symptoms associated with Fragile X syndrome. The action sent Zynerba's stock price up nearly 10 percent to $12.54 per share in late morning trading. The FDA’s Fast Track program is designed to speed the development of drugs intended…
Source: bizjournals.com Health Care:Physician Practices headlines - Category: American Health Authors: Source Type: news
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