News

NIH funded several studies to investigate how ableism—discrimination against people with disabilities—may influence health care of people with disabilities. Researchers will also investigate how to counter ableism’s negative effects.

As children head back to school, they must adapt to new routines and social situations. From expanding knowledge about sleep to assessing strategies to prevent school violence, NICHD research helps contribute to a safe and healthy learning environment.

NIH launched a new federal challenge to encourage community-based organizations to develop and implement strategies to reduce health disparities experienced by people with disabilities.

Inclusion of people with disabilities across the research enterprise—as leaders and members of the scientific workforce and as clinical research participants—is critical to ensuring that studies reflect the needs and desires of the people they seek to benefit. This Disability Pride Month, Dr. Bianchi discusses how community engagement is advancing Down syndrome research.

Umbilical cord milking, a technique to move blood from the umbilical cord to an infant’s body, does not increase the risk for neurodevelopmental disabilities in non-vigorous term infants—those who are limp, pale and with minimal breathing. The technique provides an alternative for delayed cord clamping for when resuscitation efforts are needed as soon as possible.

NIH awarded $1.4 million in first-year funding to the University of Colorado Denver to manage and improve DS-Connect^®: The Down Syndrome Registry. DS-Connect^® enables the Down syndrome community to connect with researchers, express interest in clinical studies, and complete surveys to improve understanding of their health.

NIH’s BRAIN Initiative is marking a milestone—10 years of advancing neuroscience and neurotechnology research by funding innovative projects. Dr. Bianchi shares her perspective on the impact BRAIN has made on NICHD’s mission.

NICHD scientists and colleagues identified genetic variants that disable the protein complex BORC as the cause of a severe neurodegenerative disorder that begins early in life. Subsequent work helped unravel the role of BORC in neurons and explain how defects in BORC function may contribute to neurodegeneration.

Positive parenting practices, like praising, noticing, and encouraging children’s behavior, may help reduce the faster rate of biological aging seen in children under adverse conditions. Such positive parenting practices may counter the effects of children’s hardships, improving their long-term physical and psychological health.

As we ring in 2024, we’d like to take a brief look back on our accomplishments during 2023. These activities illustrate the institute’s continued commitment to research and training in its mission areas.

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.

A research team including NICHD scientists has developed a potential gene therapy for hereditary spastic paraplegia 50, a rare childhood-onset neurodegenerative disorder that leads to developmental delays, cognitive impairment, and eventual paralysis.

Characteristics of the cries of preterm infants may help predict their risk for long-term developmental and behavioral problems, suggests an NICHD-funded study. The findings may lead to tools to identify babies at highest risk for such issues, aiding early treatment or prevention efforts.

Read about NICHD’s research findings and activities from 2022.

Amyloid plaques—protein clumps that are one of the hallmarks of Alzheimer’s disease—occur at roughly the same level in the brains of people with Down syndrome who have Alzheimer’s as they do in people with forms of hereditary, early-onset Alzheimer’s, according to research funded by the National Institutes of Health. Based on the largest study of its kind to date, the findings suggest that individuals with Alzheimer’s and Down syndrome may benefit from participating in studies on Alzheimer’s therapies aimed at slowing formation of amyloid plaques.

Reducing levels of the protein WAPL may partially correct disease traits caused by a deficiency of NIPBL, a protein with the opposite function, suggests a mouse study by NICHD scientists. The findings suggest the importance of striking a proper balance between NIPBL and WAPL activities and improve understanding of the mechanisms underlying the rare developmental disorder Cornelia de Lange syndrome.

NICHD researchers conducting a clinical study of patients with a rare, fatal neurological disorder have partnered with basic scientists to find better ways to understand the disease, monitor its progression, and ultimately find treatments.

The National Institutes of Health has awarded a total of $100 million over the next five years to support nine Autism Centers of Excellence (ACEs). This endeavor funds large research projects to understand and develop interventions for autism spectrum disorder (ASD). Created in 2007, the ACE program is renewed every five years.

Infants who were diagnosed with autism spectrum disorder (ASD) at 24 months old had differences in the visual processing areas of the brain that were apparent at 6 months old, according to a study funded by the National Institutes of Health. The researchers theorized that disruption in visual processing could interfere with how infants see the world around them, changing how they interact with and learn from caregivers and their environment. These early changes could affect further brain development and play a role in ASD symptoms.

Read about NICHD’s research findings and activities from 2021.