DURHAM, N.C., April 1, 2016 — A paper authored by a Premier Research medical director takes an unprecedented look at motor function and behavior in adults and children with Kleefstra syndrome. Susanne Schmidt, M.D., Ph.D., and four Norwegian colleagues published their findings in the European Journal of Medical Genetics.
The study of four male and four female subjects, ages 2 to 27, was the first multidisciplinary, structured assessment of the rare genetic disorder, which causes intellectual disability, development and speech delay, muscular hypotonia, and distinctive facial characteristics. It evaluated features such as autism spectrum disorder, sleep problems, and growth to contribute new quantitative and qualitative data to the description of the phenotype of Kleefstra syndrome patients.
Researchers observed muscular hypotonia and its manifestations in all patients, with these conditions persisting into adulthood. Behavioral issues, such as significantly compromised adaptive behavior or possible autistic behavior, were universal, and sleep problems were observed in nearly half of the patients.
The article, in the journal’s April edition, is available for download through May.
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Premier Research is a leading clinical development service provider that helps highly innovative biotech and specialty pharma companies transform breakthrough ideas to reality. The company has a wealth of experience in the execution of global, regional and local clinical development programs with a special focus on addressing unmet needs in areas such as analgesia, CNS, oncology, pediatric and rare disease. Premier Research operates in 84 countries and employs 1,000 professionals, including a strong international network of clinical monitors and project managers, regulatory, data management, statistical, scientific and medical experts. They are focused on smart study design for advanced medicines that allow life-changing treatments.