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…
Young children with fragile X syndrome have trouble fixing their attention in a visual clue compared to typically developing children, a study has found. Researchers believe problems in a cognitive skill known as visual orienting are caused by deficits in the parietal function of the brain, which mediates visual…
The proportion of young patients with fragile X syndrome who meet basic recommendations for preventive care varies depending on their health condition and demographics, according to a recent study. The study, “Preventive Care Services and Health Behaviors in Children with Fragile X Syndrome,” was published in the…
Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…
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