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Treatment found to improve cognitive function in patients with fragile X syndrome


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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. ....

Elizabeth Berry Kravis , David Hessl , Rush University Medical Center , National Institutes Of Health , Drug Administration , National Institutes , Toolbox Cognitive Battery , Tetra Therapeutics , எலிசபெத் பெர்ரி கிராவிஸ் , அவசரம் பல்கலைக்கழகம் மருத்துவ மையம் , தேசிய நிறுவனங்கள் ஆஃப் ஆரோக்கியம் , தேசிய நிறுவனங்கள் , கருவிப்பெட்டி அறிவாற்றல் மின்கலம் , டெட்ரா சிகிச்சை ,

New test to study language development in youth with Down syndrome


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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. ....

United States , Angela Thurman , Elizabeth Berry Kravis , Stephaniel Sherman , Jamieo Edgin , Andrea Mcduffie , Leonard Abbeduto , Human Development , National Center , Emory University , Audra Sterling Of University Wisconsin , Department Of Psychiatry , Translational Sciences , Uc Davis Health , Rush University Medical Center , Behavioral Sciences , University Of Arizona , Debra Hamilton , Audra Sterling , Eunice Kennedy Shriver National Institute , Child Health , Advancing Translational Sciences , Neurodevelopmental Disorders , Language Outcome Measures , Treatment Studies , Practice Effects ,