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.
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