News & Updates

According to the Centers for Disease Control and Prevention (CDC), birth defects occur in one of every 33 babies and are the leading cause of infant death. These problems, present at birth, are caused by genetics, the environment, and other known and unknown causes. Environmental causes of birth defects include chemical and other exposures that occur during pregnancy, including exposure to alcohol and drugs.

An intervention in which adults actively engaged the attention of preschool children with autism by pointing to toys and using other gestures to focus their attention results in a long term increase in language skills, according to researchers supported by the National Institutes of Health.

Secretary Sebelius addressed the researchers at the Network's Annual Steering Committee meeting this month. The Network, established by the NICHD and the Bill and Melinda Gates Foundation, seeks to prevent maternal and infant deaths and illnesses worldwide. Scientists from developing countries, together with those in the United States, lead teams that identify the health needs of an area and address those needs through randomized clinical trials to test treatments and interventions.

The Chief of NICHD's Perinatology Research Branch and his colleagues recently held a news briefing to describe a prototype treatment for an animal model of cerebral palsy. The researchers injected a bacterial toxin into the uteruses of pregnant rabbits. Like human patients with cerebral palsy, the baby rabbits developed a severe disability affecting their ability to move. When injected with nanoparticles carrying an anti-inflammatory drug, the baby rabbits recovered much of their movement ability.

Item of Interest: Video Presentation: Role of Research in Understanding, Preventing, and Treating Birth Defects

Patterns of brain development in the first two years of life are distinct in children who are later diagnosed with autism spectrum disorders (ASDs), according to researchers in a network funded by the National Institutes of Health. The study results show differences in brain structure at 6 months of age, the earliest such structural changes have been recorded in ASDs.

Phenylketonuria (PKU) is a rare genetic disorder that prevents the body from breaking down phenylalanine, an amino acid found in many proteins. As a result, phenylalanine can build up in body tissues of those with PKU and lead to intellectual disability.

Asian women who consumed an average of 200 milligrams or more of caffeine a day--the equivalent of roughly two cups of coffee--had elevated estrogen levels when compared to women who consumed less, according to a study of reproductive age women by researchers at the National Institutes of Health and other institutions.

Vitamin D may help prevent hormonal changes that can lead to bone loss among those being treated for HIV with the drug tenofovir, according to the results of a National Institutes of Health network study of adolescents with HIV.

Researchers supported by the National Institutes of Health are undertaking a preliminary study to identify the early origins of heart disease among African-Americans. The new feasibility study will enroll children and grand children of participants taking part in the largest study of heart disease risk factors among African-American adults, the Jackson Heart Study (JHS), in Jackson, Miss.

The National Institutes of Health has joined with organizations interested in Down syndrome to form a consortium that will foster the exchange of information on biomedical and biobehavioral research on the chromosomal condition.

Gene therapy plus an injection of copper dramatically improved survival in mice with a condition that mimics the often fatal childhood disorder Menkes disease, according to a study by researchers at the National Institutes of Health.

Key cells in the brain region known as the hippocampus are formed in the base of the brain late in fetal life and undertake a long journey before reaching their final destination in the center of the brain shortly after birth, according to researchers at the National Institutes of Health.

Researchers funded by the National Institutes of Health have discovered that the innate ability to estimate quantities is impaired in children who have a math learning disability.

Spina bifida is a serious birth defect that affects about three to four out of every 10,000 live births in the United States. Spina bifida occurs when the spinal column—including the bones of the spine, muscles, and skin—does not develop or close completely around the spinal cord while a baby is growing in the womb.

Very low birthweight Down syndrome infants are at higher risk for disorders of the heart and lungs than are very low birthweight infants who do not have a chromosomal variation, according to a study by a National Institutes of Health research network.

Brain images of youth who have a variation in a gene associated with autism spectrum disorders (ASD) revealed an altered pattern of in the brain's connective wiring, according to researchers funded by the National Institutes of Health.

Spina bifida, which literally means "split spine," is a complex birth defect that affects three to four out of every 10,000 live births. It occurs when part of the spinal column—which includes the spinal cord, associated nerves, spinal bones, and overlying muscle and skin—does not fully develop or close completely. The most frequent and severe form of spina bifida is called myelomeningocele, which is one of the most common birth defects causing lifelong disability.

The NICHD has been supporting and conducting research on Fragile X syndrome, the most common inherited form of intellectual and developmental disabilities (IDD), for many decades. This research has given way to multiple clinical trials of drug treatments for Fragile X, a concept that brings hope to millions of families.

Newborn infants are capable of a simple form of learning while they're asleep, according to a study by researchers funded by the National Institutes of Health. The finding may one day lead to a test that can identify infants at risk for developmental disorders that do not become apparent until later in childhood.