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Clues to genetics of congenital heart defects emerge from Down syndrome study

Clues to genetics of congenital heart defects emerge from Down syndrome study

Down syndrome is the most common chromosomal abnormality in humans, involving a third copy of all or part of chromosome 21. In addition to intellectual disability, individuals with Down syndrome have a high risk of congenital heart defects. However, not all people with Down syndrome have them — about half have structurally normal hearts Continue reading

Baby cries show evidence of cocaine exposure during pregnancy

Baby cries show evidence of cocaine exposure during pregnancy

A new study conducted by University of North Carolina School of Medicine researchers provides the first known evidence of how a similar acoustic characteristic in the cry sounds of human infants and rat pups may be used to detect the harmful effects of prenatal cocaine exposure on nervous system development. “These findings are important because studies of prenatal drug exposure in humans are always limited by not knowing if infant nervous system damage was due to the effects of a specific drug, such as cocaine, or the effects of other associated factors, such as maternal depression, poor prenatal care and other drug use, that are often linked with maternal drug use during pregnancy,” said Philip Sanford Zeskind, PhD, lead author of the study published October 22 in the journal PLOS ONE . “The discovery of the similar spectral characteristic in rat pup vocalizations will allow for translational analyses that can be used to detect the isolated effects of cocaine or similar drugs on brain limbic mechanisms common to humans, rodents and other mammals,” said Zeskind, a researcher at Levine Children’s Hospital at Carolinas Medical Center in Charlotte, North Carolina and a research professor of psychology and pediatrics at UNC Continue reading

Siblings of children with autism can show signs at 18 months

Siblings of children with autism can show signs at 18 months

About 20% of younger siblings of children with Autism Spectrum Disorder (ASD) will develop the condition by age 3. A new study by Yale School of Medicine researchers has found that 57% of these younger siblings who later develop the condition already showed symptoms at age 18 months. Published in the October Journal of the American Academy of Child & Adolescent Psychiatry , this is the first large-scale, multi-site study aimed at identifying specific social-communicative behaviors that distinguish infants with ASD from their typically and atypically developing high-risk peers as early as 18 months of age Continue reading

New test scans all genes simultaneously to identify single mutation causing child’s rare genetic disease

New test scans all genes simultaneously to identify single mutation causing child’s rare genetic disease

Audrey Lapidus adored her baby’s sunny smile and irresistible dimples, but grew worried when Calvin did not roll over or crawl by 10 months and suffered chronic digestive problems. Four neurologists dismissed his symptoms and a battery of tests proved inconclusive. Desperate for answers, Audrey and her husband agreed to have their son become UCLA’s first patient to undergo a powerful new test called exome sequencing. Continue reading

New test scans all genes simultaneously to identify single mutation causing child’s rare genetic disease

New test scans all genes simultaneously to identify single mutation causing child’s rare genetic disease

Audrey Lapidus adored her baby’s sunny smile and irresistible dimples, but grew worried when Calvin did not roll over or crawl by 10 months and suffered chronic digestive problems. Four neurologists dismissed his symptoms and a battery of tests proved inconclusive Continue reading

Staph ‘gangs’ share nutrients during infection

Staph ‘gangs’ share nutrients during infection

Antibiotic-resistant bacteria can share resources to cause chronic infections, Vanderbilt investigators have discovered. Like the individual members of a gang who might be relatively harmless alone, they turn deadly when they get together with their “friends.” The findings, reported Oct. 8 in Cell Host & Microbe , shed light on a long-standing question in infectious diseases and may inform new treatment strategies, said Eric Skaar, Ph.D., MPH, Ernest W Continue reading

Parental misconceptions about concussions could hinder treatment, recovery

Parental misconceptions about concussions could hinder treatment, recovery

With football season in full swing, there’s no shortage of talk about young players — from high school down to the pee wee levels — suffering from concussions. Continue reading

Moms who choose to breastfeed older babies motivated by health, nutrition benefits

Moms who choose to breastfeed older babies motivated by health, nutrition benefits

Mothers who decide to breastfeed their children beyond 1 year of age consider their child’s physical and social development to be most important, while the advice of health care professionals, family and friends are least important, according to a study to be presented Monday, Oct. 13 at the American Academy of Pediatrics (AAP) National Conference & Exhibition in San Diego Continue reading

Counting pitches can save young players’ arms but not always used consistently

Counting pitches can save young players’ arms but not always used consistently

Youth baseball has morphed into a year-round sport, with some athletes playing on multiple teams in the same season. One result: an increasing number of pitchers sidelined with overuse injuries or needing surgery Continue reading

Incorrect use of car seats widespread on first trip home from hospital, research shows

Incorrect use of car seats widespread on first trip home from hospital, research shows

Nearly all parents unknowingly put their newborn infants at risk as soon as they drive away from the hospital due to mistakes made with car safety seats, according to research to be presented Oct. 13 at the American Academy of Pediatrics (AAP) National Conference & Exhibition in San Diego. A study of 267 families at Oregon Health and Science University Hospital showed that 93 percent made at least one critical error in positioning their infant in a car safety seat or when installing the safety seat in the vehicle. Continue reading