Research at the Mass General is interwoven throughout more than 30 departments, centers and units and is conducted with the support and guidance of the Mass General Research Institute. The Research Roundup is a monthly series highlighting studies, news and events.

Taking on an Uncomfortable Topic in Menopause

Researchers at the Mass General are developing a new questionnaire designed to encourage productive conversations about an often-uncomfortable topic – the genitourinary symptoms of menopause.

Those symptoms – which include vaginal dryness and pain that can impact sexual activity, urination and other activities of daily life – can have a significant effect on the sex lives and overall quality of life of menopausal women.

Until now, details on the extent and prevalence of these symptoms has been limited by the lack of a standardized way to assess the problem in large groups of women. Communication between patients and providers has also been difficult, as women often consider the symptoms to be a normal part of aging or are embarrassed to discuss them with their providers.

The questionnaire – being developed by a team led by Jan Shifren, MD, of the Mass General Midlife Women’s Health Center, in collaboration with the North American Menopause Society – is designed to build a larger knowledge base about the health impact of these issues, identify factors that may improve or worsen them, and encourage more conversations about treatments such as lubricants, moisturizers and estrogen therapy.

Researchers Identify Functional Milestones for Children with Down Syndrome

Researchers at MassGeneral Hospital for Children and colleagues in the Netherlands have identified a set of major functional milestones for individuals with Down syndrome.

In a survey of 2,600 families in the U.S. and the Netherlands, the team found that most people with Down syndrome in the U.S. could walk by 25 months of age, speak reasonably well by age 12, maintain personal hygiene by 13 and work independently by 20. By the age of 31, 49 percent were reading reasonably well, 46 percent could write reasonably well, 34 percent were living independently and around 30 percent could travel independently. Dutch parents reported largely similar results.

“Once a child with Down syndrome is born, parents frequently want to know how well their son or daughter is developing,” says Brian Skotko, MD, MPP, co-director of the Mass General Down Syndrome Program and senior author of the study. “Now we have guideposts – based on the responses of thousands of parents – that can help clinicians know when children may be falling behind their peers with Down syndrome and, when necessary, refer parents to additional supports, resources and therapies.”

Imaging Study Links Lower Levels of Brain Enzymes with Cognitive Impairment in Schizophrenia

Researchers at the Martinos Center for Biological Imaging found that individuals with schizophrenia produce lower levels of enzymes responsible for regulating gene transcription in a part of the brain that plays a key role in cognitive functions, such as working memory and information processing.

In a study comparing 14 individuals with schizophrenia or related disorders with 17 healthy individuals, a research team led by Jacob Hooker, PhD, director of Radiochemistry at the Martinos Center, found that individuals with schizophrenia had consistently lower levels of histone deacetylase (HDAC) – enzymes in a part of the brain called the dorsolateral prefrontal cortex – with the levels of reduction corresponding to worse scores on cognitive performance tests. The team’s use of a PET scan tracer developed at the Martinos Center allowed the first measurement of HDACs in the brains of living individuals.

More research is now needed to better understand the role of HDACs across the entire brain and to track the relationship between HDAC levels and the onset, progression and severity of schizophrenia symptoms.