Most caregivers claim that children with fragile X syndrome (FXS) show signs of social avoidance, unresponsiveness or lethargy and irritability, confirming the utility of a set of subscales traditionally used to evaluate the behavior of individuals living with the disease to assess core behavioral symptoms of FXS in…
News
Many behaviors are shared by people with fragile X syndrome (FXS), autism spectrum disorder (ASD), and 22q11.2 deletion syndrome (22qDS), and particularly common is high levels of anxiety, new research shows. Data from a clinical trial in FXS patients also suggest that an investigative cannabidiol gel might help to…
Scientists have discovered a signaling cascade in fruit flies that may be a promising therapeutic target for treating fragile X syndrome in humans. The study with that finding, “Wnd/DLK Is a Critical Target of FMRP Responsible for Neurodevelopmental and Behavior Defects in the Drosophila Model of Fragile X Syndrome,”…
The presence of AGG triplets in the FMR1 gene sequence may be linked to the number of CGG repeats — the genetic cause underlying fragile X syndrome — and the degree of consanguinity among individuals from the general population, according to a study. The results of the study, “The…
Supplementation with taurine — a natural amino acid that plays an important role in the brain, heart, and muscles — can partially correct the production of two proteins found deranged in the testes of mice with fragile X syndrome (FXS), a study suggests.
Treatment for irritability, aggression, agitation and self-injury (IAAS) behaviors in people with fragile X syndrome most often includes antipsychotics, a new has study found. The research, “Pharmacologic Interventions for Irritability, Aggression, Agitation and Self‑Injurious Behavior in Fragile X Syndrome: An Initial Cross‑Sectional Analysis,” was published in the …
The clinical profile of FMR1 premutation carriers — individuals who have 55 to 200 CGG repeats in their fragile X mental retardation 1 gene sequence instead of the normal 24 to 40 — is markedly different from that of healthy people, a study found. Individuals with that profile…
Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…
Researchers adapted two scales commonly used to screen for autism spectrum disorder (ASD) — the social communication questionnaire (SCQ) and the social responsiveness scale (SRS-2) — with the aim of better diagnosing autism in people with fragile X syndrome (FXS). These adaptations improved the sensitivity and specificity…
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