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Researchers developed a new method of evaluating blood from pregnant people to identify anomalies in the genes of fetuses. The new approach is more sensitive than current tests, which screen only for chromosome-level variants, such as an extra chromosome, and a small number of fetal genetic variants. It is also less invasive than current methods, which often involve inserting a needle into the uterus to retrieve fetal cells for analysis.

NIH has designated people with disabilities as a population with health disparities for research. People with disabilities often experience a wide and varying range of health conditions leading to poorer health and shorter lifespan. In addition, discrimination, inequality, and exclusionary structural practices, programs, and policies inhibit access to timely and comprehensive health care, which further results in poorer health outcomes.

The amygdala—a brain structure enlarged in two-year-old children diagnosed with autism spectrum disorder (ASD)—begins its accelerated growth between 6 and 12 months of age, suggests a study funded by the National Institutes of Health. The amygdala is involved in processing emotions, such as interpreting facial expressions or feeling afraid when exposed to a threat. The findings indicate that therapies to reduce the symptoms of ASD might have the greatest chance of success if they begin in the first year of life, before the amygdala begins its accelerated growth.

Read about NICHD’s research findings and activities from 2020.

NIH announces funding for three centers for collaborative research on Fragile X syndrome, the most common inherited form of intellectual and developmental disability, and related conditions.

The COVID-19 pandemic has taken a disproportionate toll on people with intellectual and developmental disabilities (IDDs), write the directors of the Intellectual and Developmental Disabilities Research Centers (IDDRC) Network, a nationwide group funded by NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development. A large number of people with IDD who require in-person care have lost the support of trained caregivers and community service providers due to the pandemic.

An NIH-funded study found that youth with Fragile X syndrome experienced verbal improvements from a parent-based language intervention, but a drug treatment paired with the intervention did not provide additional benefit.

Researchers at the National Institutes of Health have discovered in mice what they believe is the first known genetic mutation to improve cognitive flexibility—the ability to adapt to changing situations.

Researchers have developed a test to measure the expressive language skills of people with Fragile X syndrome, a genetic disorder that may result in intellectual disability, cognitive impairment and symptoms of autism spectrum disorder. Expressive language refers to the use of words to convey meaning to others. The work was funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, part of the National Institutes of Health.

The NIH Toolbox Cognitive Battery—an assessment of cognitive functioning for adults and children participating in neuroscience research—can be adapted to people with intellectual disabilities by modifying some test components and making accommodations for the test-takers’ disabilities, according to researchers funded by the National Institutes of Health. The adaptations ensure that the battery can be used to assess the cognitive ability of people with intellectual disabilities who have a mental age of 5 years and above, providing objective measures that could be used in a wide variety of studies.

Read about NICHD’s notable research findings and activities from 2019.

The Trans-NIH Fragile X Coordinating Committee, led by NICHD, recently published the final NIH Strategic Research Plan on FMR1-Associated Conditions.

Carriers of the FMR1 premutation—a mutation in the gene associated with the developmental disorder Fragile X syndrome—may have a higher risk for several health conditions, according to an analysis funded by the National Institutes of Health.

NIH invites scientists, advocacy and family groups, representatives from federal and local agencies, and others to provide comments and suggestions on its draft research plan on Fragile X syndrome and associated conditions.