Premature Infants and a Deadly Gastrointestinal Disease. The most common gastrointestinal disease in premature infants, affecting 3,000 to 5,000 newborns, is a potentially fatal inflammation of the intestine and colon, known as necrotizing enterocolitis (NEC).[1] Until recently, scientists knew that formula feeding was related to NEC, but they did not know how the disease develops or how to prevent it. This year, scientists reported that a naturally-occurring factor in mother’s milk, epidermal growth factor (EGF), prevented NEC in experimental rats, when used as a formula supplement. The finding suggests that the relatively simple intervention of adding EGF supplements to the formulas fed to premature infants could prevent NEC. The research also sheds light on how NEC develops, possibly leading to new ways to treat other gastrointestinal diseases in infants and children.

Very Low Birth Weight and Long-term Outcome. About one percent of infants born in the U.S. are very low birth weight (VLBW), weighing less than 1,500 grams (about three and one-third pounds).[2] VLBW children who would have died in infancy decades ago are now more likely to survive, but often with disabling neurological, respiratory, or other conditions, causing lifetime disabilities. Little was known, until recently, about how these infants fare as adults. This year, scientists reported that at age 20, adults who had been VLBW were significantly more likely than peers to have chronic health problems, especially such conditions as cerebral palsy, blindness and deafness. They also had lower IQs and lower scores on academic achievement tests and were less likely to have earned high school or high school equivalency degrees.  Yet the mean of the VLBW adults’ achievement test scores was in the normal range and they were almost as successful as other young adults in completing secondary education. Given high rates of serious disabling conditions in the VLBW adults, the relatively narrow differences between them and young adults without these conditions suggests resilience, in them and their families. Further research could identify factors contributing to positive outcomes for these children.

A Precursor to Type 2 Diabetes in Children. Diabetes is a leading cause of death and disability in the U.S., particularly among African Americans, Native Americans, and other minorities.[3] “Adult onset,” or type 2, diabetes, the most commonly diagnosed form of this condition, was once rare in children. But recent clinical reports suggest that type 2 diabetes is increasing in children, possibly in parallel to epidemic childhood obesity. It is known that lifestyle changes can slow the emergence of diabetes; however, it has been difficult for physicians to identify children at risk of type 2 diabetes for early intervention. Scientists recently reported that they were able to calculate the prevalence of a precursor to type 2 diabetes, impaired glucose tolerance, finding it in twenty-five percent of obese children and youth studied. The ability to identify children with the precursor condition means that they could be targeted for intensive weight loss treatment.

A Possible Gene for Unexplained Mental Retardation. Mental retardation (MR) occurs in 3 percent of the population.[4] Scientists have identified some causes of MR but still do not know what causes up to seventy-five percent of MR cases.[5] Recently, however, scientists found a specific gene on the X chromosome that, in an abnormal form, results in MR. The scientists discovered this gene, known as AGTR2 (Angiotensin II), using an innovative method of studying a single individual with unexplained MR and a known chromosomal translocation. “Translocation” means that, during development, two of an individual’s chromosomes break and then the broken pieces switch places. This action switches around the genes in the chromosomes which contain the hereditary blueprint of an individual’s characteristics. With the new knowledge, the researchers will study more individuals with both MR and the AGTR2 mutation, to determine if there is a common area on this gene that is altered in some of these individuals or all of them. This work eventually could lead to insights into a variety of innovative therapies and better understanding of the processes involved in normal brain development.

Autism and Secretin. Autistic disorder is a complex developmental disorder that affects one in 500 to one in 1,000 children annually.[6] It impairs the child’s ability to communicate and interact with others, and often causes mental retardation and inappropriate behaviors. There is no known treatment for the core communication and social symptoms of autism, other than structured educational and behavioral interventions. Parents, clinicians, and researchers became interested in the potential of a digestive hormone, secretin, after reports of dramatic improvement in three autistic patients who were given a single dose of the hormone (in connection with diagnostic gastrointestinal testing). But, neither the efficacy nor the safety of secretin was established. Recently, scientists tried to reproduce the reported positive effects of a single dose of secretin, as in the original three children. They did not find significant improvements in a group of autistic children ages three to twelve who were given the treatment. The research was conducted in the Collaborative Network on the Neurobiology and Genetics of Autism, supported by the NICHD and NIDCD.

Fragile X Syndrome and Symptoms in Carriers. Fragile X syndrome (FXS) is the most common genetically-inherited form of mental retardation currently known.[7] The syndrome, which accounts for approximately 40 percent of cases with X-linked mental retardation, is caused by a mutation in a specific gene (FMR1) on the X chromosome. In its fully-mutated form, the FMR1 gene interferes with normal development. In a partially mutated (premutation) form, the FMR1 gene can cause FXS in the children of a carrier (a person who has thepremutation gene). Until recently, however, the premutation form was not thought to cause symptoms in carriers. Scientists have now identified a subgroup of premutation FMR1 carriers with symptoms that appear to be associated with the gene. Symptoms included mild cognitive and emotional problems and, in female carriers, premature menopause. In older male carriers, the premutation gene is associated with a neurological syndrome. Identifying a genetic basis could be a first step toward accurate diagnosis and, possibly, development of new treatments for these symptoms.

Enhancing Performance and Behavior—Head Start and Adult Achievement. Since Head Start began in 1965, there have been questions about whether the preschool program for low-income children has any lasting benefits. Some studies showed that Head Start children had better test scores when they first started school, but other studies suggested that this advantage faded by the time children reached third grade. Reports on other, better-funded, preschool programs showed that children who participated in them were more likely to finish high school and attend college. However, it was unclear whether Head Start, which is less well-funded, could similarly boost children’s long-term performance. Recently, economists supported by the National Science Foundation and NICHD reported that Head Start also produced long-lasting positive effects, including completion of high school and college education, in adults as old as thirty. The data also suggest that the positive effects of Head Start may carry over to the brothers and sisters of children who attend Head Start, even if these siblings never participated in the program.

Parental Influence and Teen Driving. Each year, more U.S. teens are killed or injured in motor vehicle crashes than from any other cause.[8] The developmental characteristics of adolescents are known to contribute to higher teen crash rates, along with such other factors as inexperience in driving and driving at night. Research has shown that state “graduated” driver licensing programs reduce teen driving risks by imposing driving restrictions, such as limiting new drivers to daylight driving, for a probationary period. New data suggest that another source of driving restrictions on teens -- parents -- can also reduce risks of adolescent driving accidents. Scientists recently reported that many parents do not set any special rules for their teens’ driving, but when parents do set limits such as those in the graduated licensing programs, risky teen driving declines. These scientists are now testing a program to reduce teen driving accidents by educating parents on ways to influence their teens’ driving habits, including teen-parent driving contracts. Behavioral contracts of this type are known to succeed in other contexts.