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About 2,910 results

ALLMedicine™ Fragile X Syndrome Center

Research & Reviews  1,103 results

A sound-driven cortical phase-locking change in the Fmr1 KO mouse requires Fmr1 deletio...
https://doi.org/10.1016/j.nbd.2022.105767
Neurobiology of Disease; Holley A, Shedd A et. al.

May 20th, 2022 - Sensory impairments commonly occur in patients with autism or intellectual disability. Fragile X syndrome (FXS) is one form of intellectual disability that is often comorbid with autism. In electroencephalographic (EEG) recordings obtained from hu...

Remote cognitive training for children with congenital brain malformation or genetic sy...
https://doi.org/10.1177/17446295221095712
Journal of Intellectual Disabilities : JOID; Corti C, Oldrati V et. al.

May 19th, 2022 - Increased attention is arising on the delivery of remote cognitive interventions, which allow performing exercises in everyday settings, favouring rehabilitation continuity. The present study offers an overview of remote cognitive training program...

Maturation Delay of Human GABAergic Neurogenesis in Fragile X Syndrome Pluripotent Stem...
https://doi.org/10.1093/stcltm/szac022
Stem Cells Translational Medicine; Zhang A, Sokolova I et. al.

May 14th, 2022 - Fragile X Syndrome (FXS), the leading monogenic cause of intellectual disability and autism spectrum disorder, is caused by expansion of a CGG trinucleotide repeat in the 5'-UTR of the Fragile X Mental Retardation-1 (FMR1) gene. Epigenetic silenci...

Sustained correction of hippocampal neurogenic and cognitive deficits after a brief tre...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9103116
BMC Medicine; Javadi S, Li Y et. al.

May 14th, 2022 - Fragile X syndrome (FXS), the most prevalent inherited intellectual disability and one of the most common monogenic forms of autism, is caused by a loss of fragile X messenger ribonucleoprotein 1 (FMR1). We have previously shown that FMR1 represse...

Safe Administration of Electroconvulsive Therapy in a Patient With Catatonia and Neurop...
https://doi.org/10.1097/YCT.0000000000000862
The Journal of ECT; Baroud E, Bond JB et. al.

May 11th, 2022 - Safe Administration of Electroconvulsive Therapy in a Patient With Catatonia and Neuropsychiatric Lupus Comorbid With Fragile X Syndrome.|2022|Baroud E,Bond JB,Lucarelli J,Olusunmade M,Henry ME,|

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Guidelines  1 results

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific...
https://doi.org/10.1038/gim.2013.61
Genetics in Medicine : Official Journal of the American C... Monaghan KG, Lyon E et. al.

Jun 15th, 2013 - Molecular genetic testing of the FMR1 gene is commonly performed in clinical laboratories. Mutations in the FMR1 gene are associated with fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency. This document prov...

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Clinicaltrials.gov  25 results

A Randomized Study of BPN14770 in Male Adolescents (Aged 12 to < 18 Years) With Fragile X Syndrome
https://clinicaltrials.gov/ct2/show/NCT05163808

May 4th, 2022 - This is a 2-part study, with each part having a unique set of objectives for male adolescents aged 12 to < 18 years with fragile X syndrome (FXS). Part 1 is an open-label, single-dose, pharmacokinetics (PK) assessment of BPN14770 25 mg and 50 mg, ...

A Phase 1, Open-Label, PET Study of T2310 & BPN14770
https://clinicaltrials.gov/ct2/show/NCT04044781

Jan 10th, 2022 - This is a sponsor initiated, single site, first-in-human study of an investigational imaging agent for quantifying the topographically specific concentrations of the phosphodiesterase enzyme Type 4D (PDE4D) with positron emission tomography (PET) ...

Neurophysiological and Acute Pharmacological Studies in FXS Patients
https://clinicaltrials.gov/ct2/show/NCT02998151

Nov 26th, 2021 - The aim of this study is to utilize neurophysiologic assessments, behavioral measures and clinical measures to assess how much deficits associated with Fragile X Syndrome from pre-dose to post-dose using pharmacology.

Single Blind Study of Ergoloid Mesylates, 5-HTP and the Combination in Adult Males With Fragile X Syndrome
https://clinicaltrials.gov/ct2/show/NCT05030129

Sep 1st, 2021 - This single-center, Phase 2, single-blind, 4-period sequential study will obtain a preliminary assessment of the effects of Ergoloid mesylates (EM) 1 mg TID and 5-hydroxytryptophan (5-HTP) 100 mg TID and the combination compared to a placebo perio...

The Effect of Acceptance and Commitment Therapy
https://clinicaltrials.gov/ct2/show/NCT04909658

Jun 2nd, 2021 - Autism Spectrum Disorder (ASD) is a lifelong neurodevelopmental disorder characterized by core deficits in maladaptive behaviors, communication skills, and self-regulation im-pairments affecting the socio-relational performance of children, but al...

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News  32 results

Abnormal Growth of the Amygdala in Infants Tied to Autism
https://www.medscape.com/viewarticle/971694

Apr 6th, 2022 - A new study suggests that overgrowth of the amygdala in infants during the first 6 to 12 months of life is tied to a later diagnosis of autism spectrum disorder (ASD). "The faster the amygdala grew in infancy, the more social difficulties the chil...

New Genetic Test Finds Hidden Neurological Diseases
https://www.medscape.com/viewarticle/970530

Mar 18th, 2022 - Neurological disorders can be some of the most difficult conditions to diagnose. Symptoms are similar for multiple different conditions and sometimes they vary a lot between patients, which can make diagnosis hard to pinpoint. Delays means that in...

Undiagnosed Fragile X Syndrome Common in General Population
https://www.medscape.com/viewarticle/966894

Jan 20th, 2022 - (Reuters Health) - Fragile X syndrome may be underdiagnosed, particularly among women, a U.S. study suggests. Researchers examined electronic health record data for 1.7 million patients seen over approximately 40 years at the Marshfield Clinic Hea...

Fragile X Syndrome
https://tools.cdc.gov/medialibrary/index.aspx#/media/id/333027

Fragile X syndrome might not be what you think. See if you can separate fact from fiction.

Zynerba's cannabis-based drug for rare genetic disorder fails study
https://www.reuters.com/article/us-zynerba-pharms-study/zynerbas-cannabis-based-drug-for-rare-genetic-disorder-fails-study-idUSKBN2411Q2

Jun 30th, 2020 - (Reuters) - Zynerba Pharmaceuticals Inc said on Tuesday its experimental cannabis-based gel Zygel was not statistically significant in improving aberrant behavior when compared to a placebo in patients with a neurological disorder called Fragile X...

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Patient Education  3 results see all →