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It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism.   “The hardest…

School-aged girls with fragile X syndrome are less aware of bullying than children of the same age and intellectual abilities, a study suggests. These findings indicate that difficulties in interpreting social signals could place these girls in vulnerable situations. Developing socials skills…

Clinical improvements among participants receiving a placebo — known as the placebo effect — are common in clinical trials of fragile X syndrome, a study conducted by scientists across the U.S. suggests. The findings indicate that better trial designs, including different efficacy measurements, may be necessary in future…

Almost half of emergency department visits for fragile X syndrome result in hospitalizations, according to a nationwide study in the U.S. The finding underscores the importance of surveillance systems capable of identifying and keeping track of fragile X patients as they move through the healthcare system, scientists said. The…

The U.S. Food and Drug Administration (FDA) and Zynerba Pharmaceuticals will meet later this year to discuss the results of the CONNECT-FX trial and next steps regarding a potential regulatory approval of the experimental cannabidiol (CBD) gel Zygel for fragile X syndrome, according to the company.

Shortage of energy due to leaky mitochondria — the powerhouses of cells — contributes to behavioral abnormalities in fragile X syndrome, a study has found. Closure of the leaky mitochondrial membrane with a form of a Parkinson’s disease medicine boosted energy production and reversed autism-like behaviors…

Scientists have discovered part of the mechanisms underlying synaptic plasticity — the process that allows nerve cell connections called synapses to become stronger or weaker over time — that are responsible for controlling how the brain stores information in the form of memories. According to the team, these findings…

Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…

Better communication among different institutions is needed to assist young patients with fragile X syndrome make the transition from school into adult life, according to a small study. Support programs for youth with fragile X lack continuity and complementarity, the results indicated. The study, “Factors Impacting…