Tag Archives: infant

Congenital Heart Defects

Congenital heart defects are the most common kind of birth defect among children born in the United States, affecting nearly one percent of all newborns in the country. There are multiple kinds of heart defect, classified according to the location of the problem within the heart as well as what, specifically, is wrong. The types of heart defect include:

Complete atrioventricular canal defect, a failure of the walls separating the chambers to meet and fully close. This means blood entering the lungs mixes with blood that s to circulate to the rest of the body, causing improper oxygen distribution.

Truncus arteriosus, in which the blood vessels leading in from the lungs and out to the body are fused together, when they are supposed to be separate. This condition also interferes with proper circulation of the blood through the body.

Ebstein’s anomaly, in which the heart valve on the left side cannot fully close.

Tetralogy of Fallot, the co-occurrence of four different malformations. These are a hole between the heart’s lower chambers, the aorta right above this hole and connected to both chambers rather than only the left, a blockage in the link between the heart and the lungs, and a thickening of the wall of the right chamber.

Pulmonary valve stenosis, in which the heart valve doesn’t open all the way and blood sometimes flows back out.

Atrial septal defect, a hole in the wall separating the heart’s upper chambers.

Coarctation of the aorta, a narrowing of the artery that carries blood out of the heart. This can can lead to high blood pressure, which is dangerous in infants.

It is often important that heart defects in newborns and infants be treated, usually with surgery. Because these defects are typically diagnosed so young—symptoms are frequently apparent early on, such as the tetralogy of Fallot, which can result in blue skin—and because infants born with heart defects may have other illnesses as well, there might be limits on the types of surgery that can be performed. In some cases, however, it is possible to leave the defect as is, at least temporarily, and it is sometimes possible for children born with heart defects to grow up quite healthy regardless.

Cerebral Palsy And Heredity

Damage to areas within the largest part of the brain—the cerebrum—typically before or during birth is called "cerebral palsy." This term refers not to one specific condition but is a name for a broad category of motor deficiencies that result in physical disability. The damage may result from inflammation, infection, or low birth weight or birth defects. Over half of all children with cerebral palsy have been found to have birth defects or low birth weight. Babies born with cerebral palsy may be floppy or stiff. Children with these conditions often exhibit language problems, not necessarily due to cognitive deficits—though such deficits are not uncommon—but as a result of respiratory problems or difficulties with facial muscle control.

The causes of cerebral palsy are not clear. Contrary to what was once believed, babies born with the umbilical cord wrapped around the neck, which actually happens in as many as a third of all pregnancies, are not at significantly higher risk for cerebral palsy. Rather, women who have infectious diseases such as rubella, chickenpox, or toxoplasmosis during pregnancy are more likely to have children with birth defects such as cerebral palsy. Multiple birth are associated with low birth weight, and particularly if there has been a miscarriage, one or more of the infants are at heightened risk for a form of cerebral palsy.

Researchers have also found a family connection in cerebral palsy. Siblings, children, and first cousins of children who are born with cerebral palsy are themselves at higher than normal risk of thee conditions. One study found that, while children who are twins are already three times as likely as single births to have some form of cerebral palsy, when one twin develops one, the other is 15 times more likely to do so as well. The same study showed younger siblings of children with cerebral palsy showed a sixfold increase in risk, roughly the same as children of parents with cerebral palsy.

The good news is that by adolescence, with proper treatment, children with cerebral palsy have quality of life roughly comparable to that of children who are not affected. In a survey, teenagers with cerebral palsy self-assessed as doing as well as—or better than in some areas—their peers.

Children And CMV

Viruses are generally thought of in the context of making people sick, but there are actually some that are so ubiquitous that they are barely even noticed in most adults. Human cytomegalovirus is an example. It is extremely transmissible, and as a result it infects 80 percent of the adult population—if "infects" is even the word for something that is easily kept in check by the immune system in most adults.

Occasionally, however, cytomegalovirus can make someone sick. This is most common in people with weakened immune systems, such as after bone marrow or organ transplants or as a result of AIDS. Cytomegalovirus is commonly transmitted to fetuses from their mothers if the mothers became infected during pregnancy—in fact, it is the virus most frequently passed from a pregnant woman to her fetus. It can cause serious complications in these cases, with babies being born with jaundice, low birth weight, enlarged spleen or liver, or a rash. Typically, however, these children grow up none the worse for wear if they are carefully monitored, though sometimes it can result in birth defects that result in life-long health problems.

Cytomegalovirus in adults can have more long-lasting effects. Symptoms in adults include changes in behavior, blindness, coma, diarrhea, encephalitis, hepatitis, pneumonia, seizures, and digestive ulcers which sometimes bleed. If it’s ignored, the disease can even be fatal—generally speaking, only people who are showing symptoms would benefit from treatment, but people who are showing symptoms absolutely need to get themselves treated. There appears to be a link between cytomegalovirus and brain cancer, where the tumor activates the virus if its dormant and virus helps the tumor to thrive.

Infants with cytomegalovirus infection are generally treated for symptoms, such as pneumonia. Anti-viral medications can control the virus in children and adults but they cannot eradicate it entirely. People who have had bone marrow transplants are prone to opportunistic cytomegalovirus disease when their weakened immune systems can no longer keep the virus at bay, but some antivirals have been found to be particularly effective at preventing this from occurring.

Infant HIV Cure Holding

Nearly eight months after preliminary results suggested a Mississippi toddler might have been successfully cured of HIV infection, more thorough testing and analysis have found that she is still HIV-negative. That means that in tests, she has no detectible levels of the virus, which can be transmitted from mothers to their children in the uterus, despite the fact that the toddler is no longer actively being treated. She had been given a course of antiviral medication, but has not been given the medication for well over a year.

"Our findings suggest that this child’s remission is not a mere fluke but the likely result of aggressive and very early therapy that may have prevented the virus from taking a hold in the child’s immune cells," said Deborah Persaud, a pediatric HIV specialist involved in the child’s treatment, in a statement.

The three-year-old is the third person, and first child, to be pronounced cured of HIV infection without need for ongoing antiviral treatment since the virus was first identified in 1983. The other two are adults known as "the Berlin patients," one of whom is a Seattle native named Timothy Ray Brown. In 2007, 12 years after he was diagnosed as HIV-positive, Brown received a stem cell transplant in Germany from a donor with a gene mutation that confers resistance to HIV infection. Brown then received a second transplant in 2008; a year after that, Brown became the first person in whom the virus was declared completely eradicated rather than just inactive. The other Berlin patient, whose name has not been made public, was a German man given an experimental drug treatment in 1998. This patient was the only one in the experimental group who was successfully cured, with signs of inactive virus but no further symptoms.

The toddler, who was born premature at 35 weeks, was given the standard HIV treatment regimen for infants from 30 hours old. The severity of HIV infection is measured by viral load, a count of the amount of virus present in the patient; treatment can reduce viral load to low or undetectable levels but normally must be maintained to avoid a resurgence. The child’s viral load was low when measured after 29 days and remained low or undetectable as treatment continued over approximately 18 months. In this patient, however, long after treatment was stopped no sign of active virus or symptoms of ongoing infection were found.

Gene Therapy For Down Syndrome

When women have children late in life, there is an increased risk that those children will have a condition that results in stunted growth, significant cognitive deficits, a flat face with a protruding tongue, and often short fingers and poor muscle tone. Down syndrome occurs in one in 35 babies born to women over 45, as compared to one in 400 babies born to women under 35; having a baby with Down syndrome is itself a risk factor, raising the chances of subsequent children also having the condition.

The most common form of Down syndrome is called trisomy 21 because it is caused by an extra 21st chromosome, three rather than the usual two. The other, vastly rarer, forms can also be traced to excess 21st-chromosome material, either present in some cells but not others (called mosaic Down syndrome) or attached to other chromosomes (called translocation Down syndrome). The translocation type accounts for about one in 25 cases of the condition and is the only type that can be inherited.

The extra chromosomal material, scientists now believe, appears to affect stem cell regulation. The primary culprit appears to be a gene on the chromosome called Usp16; an extra copy of the gene means more stem cells are used in development. While that one gene is almost certainly not solely responsible for all the symptoms of the condition, treatments that dial it back causes neural cells that typically grow slowly in Down patients to instead grow in the usual way.

This suggests a possible direction for research into genetic-based treatments for Down syndrome. The study that identified the role of Usp16 included tests in human cells, so there is some insight into how it works in people. Current treatments for Down syndrome are focused on early intervention and team care to address the symptoms and possible complications—specialists in developmental pediatrics, cardiology, speech therapy, neurology, and all the other areas the condition touches—but gene therapy may in the future prevent the condition from showing symptoms in the first place.

Child Possibly Cured Of HIV

A girl born with an HIV infection was pronounced cured Sunday, according to the National Institutes of Health. She was born HIV-positive in Mississippi in July 2010 and put on aggressive treatment right away. The patient is only the second person, and the first child born with the disease, to be considered cured since the disease was identified in 1980. The announcement was made at the Conference on Retroviruses and Opportunistic Infections in Atlanta.

The child was born at 35 weeks; her mother had been infected with HIV but was not being treated for it, and so her baby was considered to have a high risk of exposure. Testing after two days confirmed the presence of the virus in the newborn, who was started on the standard treatment for HIV in infants—a liquid anti-retroviral treatment consisting of a combination of the anti-HIV drugs zidovudine, lamivudine, and nevirapine—at 30 hours old.

She continued to receive a similar anti-retroviral regimen after she and her mother were discharged from the hospital a week after the birth. Her viral load—the number of copies of HIV in the bloodstream, a measurement of the severity of the infection—had fallen to a low level by the 29th day. Treatment was discontinued in January 2012. Ten months later, her viral load remained undetectable, and there were no other signs of infection. Undetectable viral load is typically maintained only with continuing treatment.

“Despite the fact that research has given us the tools to prevent mother-to-child transmission of HIV, many infants are unfortunately still born infected. With this case, it appears we may have not only a positive outcome for the particular child, but also a promising lead for additional research toward curing other children,” National Institute of Allergy and Infectious Disease director Anthony S. Fauci, M.D., said in a statement.

It remains to be seen whether this outcome can be generalized to other children, or used as the basis for treatment for patients who become infected as adults. In 2009 doctors announced a man known as the “Berlin patient” and later identified as Timothy Ray Brown had maintained an undetectable viral load despite 20 months without treatment after a bone-marrow transplant.

Congenital Heart Defects

More than one in 125 newborns has a congenital heart defect; it’s the most common kind of birth defect in the United States. These defects are classified according to what exactly is wrong and where. The different defects include:

  • Complete atrioventricular canal defect, a failure of the walls separating the chambers to meet in the middle where they’re supposed to, allowing the blood that’s supposed to go to the lungs to mix with that destined for the body.
  • Truncus arteriosus, in which the blood vessels leading in from the lungs and out to the body are fused together rather than separate. This, too, interferes with proper routing of the blood through the body.
  • Ebstein’s anomaly, in which the heart valve on the left side doesn’t fully close.
  • Tetralogy of Fallot, a combination of a hole between the heart’s lower chambers with the aorta right next to it, a blockage in the link between the heart and the lungs, and a thickening of the wall of the right chamber.
  • Pulmonary valve stenosis, in which the heart valve doesn’t open all the way and blood sometimes flows back out.
  • Atrial septal defect, a hole in the wall separating the top two chambers of the heart.
  • Coarctation of the aorta, a narrowing of the artery that carries blood out of the heart, which can lead to high blood pressure.

Treatment generally involves surgery to fix the damage, though it depends on what the defect is and what other health conditions the person may have. Congenital heart defects are often diagnosed in infants or very young children, which can affect the kinds of surgery that are considered safe. Moreover, not all heart defects require treatment, though it is considered that most do. However, advances in medicine mean that most children with heart problems live about as long as healthier children do.

Trouble Feeding your Baby

Breastfeeding seems like a simple process, but it isn’t always. A significant number of women report difficulty getting their newborns to nurse properly. If this happens to you, you don’t need to abandon breastfeeding entirely; there are techniques you can use to help ensure your baby nurses properly.

Prevention is generally the best solution. There are prenatal classes available that can help give you the tools to help you and your baby understand and overcome breastfeeding difficulties. Not only will you be prepared if problems do arise, but you will be better able to nurse successfully even if nothing goes wrong.

If you do run into trouble, do not wait to get help. Remember, nursing problems do not mean that you are a failure as a mother. Usually it’s something that can be fixed—if you ask a professional. Medical personnel can point you towards a certified lactation consultant who can give you the help you may need.

One common problem is low supply. The body usually produces as much breast milk as it thinks is needed; frequent nursing or pumping will let it know it needs to keep making more. In fact, often what seems to be a low supply is simply both mother and baby adjusting to baby’s specific needs. If there is a problem—for instance, if the baby is losing weight—that’s when it’s time to talk to a doctor.

Pain is a clear sign of a problem, though a little soreness is normal. It may be something simple, such as dry skin, which can usually be soothed with lanolin. Another possibility is a positioning problem. The baby’s mouth should cover the bottom of the areola. You can also try to encourage gentler suckling by feeding for shorter periods less often. A hungry baby will nurse more aggressively, and potentially more painfully.

Not all mothers choose to breastfeed, or even to pump, but if you do, this can help you do it right.

Predicting Asthma Risk

As a proud parent, you share the joy when your little one reaches various milestones. But your newborn developing quickly may not be a good thing. New studies suggest it may indicate an increased risk of asthma or asthma-like symptoms.

Doctors have already known that low birth weight is related to asthma–and that pregnant women who go off asthma medication risk low-birth-weight babies. Now a study tracking over 5,000 children from birth through toddlerhood found that unusually rapid weight gain in the three months following birth increased the odds of wheezing nearly one and a half times. Asthma can be difficult to diagnose in young children, but certain symptoms can be seen.

The difference was reported as independent of fetal growth, meaning that it held in children who had developed normally prenatally. In fact, no connection was found between rates of fetal development and asthma risk.

Childhood asthma sometimes goes away with age but in some cases persists in adults. It is exacerbated by certain living or working environments. It can be controlled with medications, but requires a doctor’s care.

Damage In Down’s Syndrome

Down’s syndrome, or trisomy 21, is a chromosomal condition that arises from a third, extra, 21st chromosome in a persons genetic code. The 2st chromosome is one of the few small enough that a fetus can survive with a third, but Down’s syndrome causes severe impairment of cognitive ability, motor skills, and physical development. It occurs in one in approximately 800 births and is associated with older mothers.

Using mice, scientists have reproduced the type of neuron damage found in Down’s syndrome patients in an effort to determine the exact mechanism by which it occurs. They found that overgrowth of dendrites, the structures in the brain that connect neurons, inhibits the development of connections between synapses. In other words, the structures get too tangled up for the neurons to form or communicate properly. This is due to overexpression of a particular protein controlled by a gene on chromosome 21 called DYRK1A.

Down’s syndrome can be detected pre-natally. With this research, doctors may one day be able to treat the condition in newborns, reducing the excessive activity of the protein and preventing the associated entanglement. That means these children may not exhibit the learning disabilities common with the condition.