DURHAM, N.C., OCTOBER 17, 2017 — Patients with Wolf-Hirschhorn syndrome, a congenital malformation disorder caused by variably sized chromosomal deletions, may have fewer motor-skill and communicative impairments than commonly believed. That’s the conclusion of an article in the European Journal of Medical Genetics co-authored by an expert at Premier Research.
Dr. Susanne Schmidt, Premier Research Senior Medical Director, and her four co-authors confirmed the major clinical symptoms observed since Wolf-Hirschhorn was first recognized in the early 1960s. But they found a population with a less severe dysmorphology, fewer congenital malformations, and fewer medical challenges than expected.
In their study of 10 Norwegian WHS patients — aimed at expanding knowledge about the condition, especially as it affects motor function — researchers found a high incidence of possible autism spectrum disorders and identified sleep problems in WHS patients as a subject warranting further investigation. They strongly recommended further research into targeted interventions for the condition, for which no treatment currently exists.
Although WHS was discovered more than half a century ago, data on behavioral features and adapted behaviors is scarce, and little information based on formal evaluations has been published.
The article is available from European Journal of Medical Genetics for free until November 1, 2107.
About Premier Research
Premier Research is a leading clinical development service provider that helps highly innovative biotech and specialty pharma companies transform breakthrough ideas into 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, dermatology, medical device, neuroscience, oncology, pediatric, and rare disease. Premier Research operates in 84 countries and employs 1,100 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.