Decades-long quest to beat Fragile X fueled by persistence, science and relentless optimism msn.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from msn.com Daily Mail and Mail on Sunday newspapers.
He's the young boy with a rare disease whose journey we've followed for four years. KETV Investigates told you how his potentially life-saving drug was being discontinued. But since our report aired, there's been a positive sign in what's been an uphill battle.
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An experimental treatment produced improvements in cognitive function and language in patients with fragile X syndrome, according to study results published on April 29 in
Nature Medicine. Fragile X syndrome (known as FXS for short) is the most common known genetic cause of autism and the most common cause of inherited intellectual disability. These results offer hope for patients with fragile X syndrome and their families, said Elizabeth Berry-Kravis, MD, PhD, a pediatric neurologist at Rush University Medical Center and principal investigator of the study. The majority of clinical outcome measures were in favor of the drug. These measures included performance-based assessments, biomarkers, and parent and physician-rated scales, which in combination, suggest a meaningful impact on the global FXS disease process.
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New test to study language development in youth with Down syndrome
Expressive language sampling (ELS) is a useful tool for measuring communication development in youth with Down syndrome, a new multi-site study has found. Youth with Down syndrome may have language delays
The study was co-led by Angela Thurman and Leonard Abbeduto from the UC Davis MIND Institute and the Department of Psychiatry and Behavioral Sciences. It focused on language as an outcome measure to detect meaningful changes in communication skills of individuals with Down syndrome. It successfully tested and validated ELS as a reliable set of procedures for collecting, measuring and analyzing the spoken language of participants interacting in a naturalistic setting.
New test to study language development in youth with Down syndrome eurekalert.org - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from eurekalert.org Daily Mail and Mail on Sunday newspapers.