Fish give insight on sound sensitivity in autism
(University of Queensland) Scientists at The University of Queensland used zebrafish that carry the same genetic mutations as humans with Fragile X syndrome and autism, and discovered the neural networks and pathways that produce the hypersensitivities to sound in both species. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - November 10, 2020 Category: International Medicine & Public Health Source Type: news
Bullying victimization in young females with fragile-X-syndrome - Joga-Elvira L, Jacas C, Joga ML, Roche-Mart ínez A, Brun-Gasca C.
The aim of this study is to investigate the risk associated with girls with fragile X syndrome (FXS) suffering bullying in the role of a victim and its effects on their adaptive behavior, socialization style, and emotional state. A neuropsychological asses... (Source: SafetyLit)
Source: SafetyLit - September 21, 2020 Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news
Yale researchers find a cause and possible treatment for Fragile X
Fragile X syndrome — a disorder of the X chromosome — is the leading cause of autism and the primary genetic driver of intellectual disability. (Source: Yale Science and Health News)
Source: Yale Science and Health News - September 3, 2020 Category: Universities & Medical Training Source Type: news
Examining the specificity of forms and functions of aggressive behavior in boys with fragile X syndrome - Britton TC, Wilkinson EH, Hall SS.
Limited information is available concerning the specificity of the forms and functions of aggressive behavior exhibited by boys with fragile X syndrome (FXS). To investigate these relationships, we conducted indirect functional assessments of aggressive be... (Source: SafetyLit)
Source: SafetyLit - July 4, 2020 Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news
Findings weaken notion that size equals strength for neural connections
(Picower Institute at MIT) Among a new study's many surprises about synaptic plasticity may be a new approach to addressing Fragile X syndrome: Finding and targeting a " Protein X " that appears to promote shrinkage of dendritic spines. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - June 30, 2020 Category: International Medicine & Public Health Source Type: news
Unexpected mental illnesses found in a spectrum of a rare genetic disorder
(University of California - Davis Health) UC Davis MIND Institute researchers found an unexpected spectrum of mental illnesses in patients with a rare gene mutation. These patients had a " double hit " condition that combined features and symptoms of fragile X syndrome and premutation disorder, in addition to a range of psychiatric symptoms. The findings revealed the need for clinicians to consider the complexities of the co-existing conditions of patients with both psychological and fragile X associated disorders. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 24, 2020 Category: International Medicine & Public Health Source Type: news
Scientific breakthrough toward treatment of Fragile X syndrome
(University of Calgary) Scientists at the University of Calgary have made a discovery that could lead to treatment of Fragile X syndrome (FXS), the leading genetic cause of autism. The study, involving mouse models, shows promise of translating to a treatment for people. Those with FXS are missing a protein vital to brain development called FMRP. The researchers used a fragment of FMRP which was able to cross the blood-brain barrier and restore the protein to normal levels. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 2, 2020 Category: International Medicine & Public Health Source Type: news
What Are the Symptoms of Fragile X Syndrome
What Are the Specific Symptoms of Fragile X Syndrome? (Source: eMedicineHealth.com)
Source: eMedicineHealth.com - May 31, 2020 Category: General Medicine Source Type: news
Fragile X in the Family
Discussion
Fragile X syndrome (FXS) was first clinically described in 1943 by Martin-Bell and in 1969 Lubs found a fragility at the terminal end of the X chromosome. In 1991, three different research groups independently cloned the mutation for the FMR1 gene (Fragile X mental retardation type 1) which has a CGG triplet expansion. The FMR1 gene codes for the FMR protein which is a major regulator of synaptic plasticity and is expressed in the brain and spermatogonia mainly but many other tissues during fetal and early neonatal development. The number of triplets and methylation correlates with clinical expression (increased...
Source: PediatricEducation.org - April 27, 2020 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news
Behavioral intervention, not lovastatin, improves language skills in youth with fragile X
(University of California - Davis Health) A UC Davis Health study found more evidence for the efficacy of telehealth-delivered behavioral intervention in treating language problems in youth with fragile X syndrome. The authors, however, could not establish efficacy for the drug lovastatin as a treatment for learning or behavior problems in individuals with fragile X. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - April 21, 2020 Category: International Medicine & Public Health Source Type: news
Expressive Language Sampling Feasible in Fragile X Syndrome
MONDAY, March 30, 2020 -- Expressive language sampling (ELS) procedures are feasible for most individuals with fragile X syndrome (FXS) aged 6 to 23 years with intellectual disability, according to a study published online March 24 in the Journal of... (Source: Drugs.com - Pharma News)
Source: Drugs.com - Pharma News - March 30, 2020 Category: Pharmaceuticals Source Type: news
Researchers develop language test for people with Fragile X syndrome
NIH-funded test seeks to increase participation of individuals with Fragile X in clinical trials. (Source: National Institutes of Health (NIH) News Releases)
Source: National Institutes of Health (NIH) News Releases - March 24, 2020 Category: American Health Source Type: news
Researchers develop language test for people with Fragile X syndrome
(NIH/Eunice Kennedy Shriver National Institute of Child Health and Human Development) Researchers have developed a test to measure the expressive language skills of people with Fragile X syndrome, a genetic disorder that may result in intellectual disability, cognitive impairment and symptoms of autism spectrum disorder. Expressive language refers to the use of words to convey meaning to others. The work was funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, part of the National Institutes of Health. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - March 24, 2020 Category: International Medicine & Public Health Source Type: news
Five language outcome measures evaluated for intellectual disabilities studies
(University of California - Davis Health) Expressive language sampling yielded five language-related outcome measures that may be useful for treatment studies in intellectual disabilities, especially fragile X syndrome. The measures were generally valid and reliable across the range of ages, IQs and autism symptom severity of participants. According to the study, led by UC Davis researchers and funded by NIH, the measures are also functional in supporting treatments that can improve language, providing far reaching benefits for individuals with intellectual disabilities. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - March 23, 2020 Category: International Medicine & Public Health Source Type: news
Today, FDA authorized the first test to detect Fragile X Syndrome (FXS), the most common known cause of inherited developmental delay & intellectual disability. It ’ s intended as an aid in diagnosing FXS along w/ family history, clinical signs & symptoms.pic.twitter.com/teB7JS5VfZ
Today, FDA authorized the first test to detect Fragile X Syndrome (FXS), the most common known cause of inherited developmental delay & intellectual disability. It’s intended as an aid in diagnosing FXS along w/ family history, clinical signs & symptoms. pic.twitter.com/teB7JS5VfZ (Source: Food and Drug Adminstration (FDA): CDRHNew)
Source: Food and Drug Adminstration (FDA): CDRHNew - February 21, 2020 Category: Medical Devices Authors: ( at US_FDA) Source Type: news
