Diagnostic criteria for Christianson syndrome

Because the severe autism-like condition Christianson syndrome was first reported only in 1999 and some symptoms take more than a decade to appear, families and doctors urgently need fundamental information about it. A new study that doubles the number of cases now documented in the scientific literature provides the most definitive characterization of CS to date. The authors of the study propose the first diagnostic criteria for the condition. “We’re hoping that clinicians will use these criteria and that there will be more awareness among clinicians and the community about Christianson syndrome,” said Dr. Eric Morrow, assistant professor of biology and psychiatry and human behavior at Brown University and senior author of the study in press in Annals of Neurology. “We’re also hoping this study will impart an opportunity for families to predict what to expect for their child and what’s a part of the syndrome.”

International Angelman Day

International Angelman Day is a multi-national awareness raising event held on February 15th of each year. With over thirty nonprofit organizations participating worldwide, the purpose of International Angelman Day is to raise awareness of Angelman Syndrome, encourage fundraising, promote research, and serve as an in memoriam.

From Undiagnosed to Diagnosed: The Journey

This is the first of multiple blog posts by Nancy LeGendre, PhD, former biochemical researcher and mother of two with Pitt Hopkins Syndrome. I consider myself fortunate to recall Julia's first year of life in blissful ignorance of any serious problems or dream-defying "detours" that might lie ahead. I recall that year as a new Mom primarily as one of delight and joyful cluelessness. Our pediatrician dismissed my initial concerns, such as delayed babbling and mildly late motor milestones at nine months as the worries of a nervous, first-time Mom.

How a cancer drug unties knots in the chromosome that causes Angelman and Prader-Willi syndromes

The research, published online today in Proceedings of the National Academy of Sciences (PNAS), found that the drug stabilizes the formation of strands of RNA that create RNA-DNA hybrids called ‘R-loops,’ in the Ube3a region of the gene15q11-q13. The gene is implicated in other neurodevelopmental disorders, including autism. About 1 percent of cases of autism are linked to duplications in 15q11-q13 or “Dup15q,” children that over-express Ube3a.

Symptoms of Prader-Willi syndrome associated with interference in circadian, metabolic genes

Researchers with the UC Davis MIND Institute and Agilent Laboratories have found that Prader-Willi syndrome a genetic disorder best known for causing an insatiable appetite that can lead to morbid obesity is associated with the loss of non-coding RNAs, resulting in the dysregulation of circadian and metabolic genes, accelerated energy expenditure and metabolic differences during sleep.

Understanding Angelman syndrome

A team of scientists reports experiments showing how the gene defect of Angelman syndrome disrupts neurological processes that may be needed for memory and learning. In tests in mice, the team showed that a novel compound could restore the healthy processes.

Study justifies L-DOPA therapy for Angelman syndrome

Last year a clinical trial of L-DOPA -- a mainstay of Parkinsons disease therapy -- was launched for Angelman syndrome, a rare intellectual disorder that shares similar motor symptoms such as tremors and difficulty with balance. The clinical trial is based on a 10-year-old case report showing benefit with the drug, but few studies since have explored the neurological justification for using L-DOPA to treat parkinsonian features in Angelman syndrome.