Tag: Medicine Page 2 of 3

Neonatology: an overview

On February 14, 2019

In Neonatal Care, Newborn Screening, Newborns, Research

Neonatology is a type of pediatrics, focusing specifically on medical care for newborns. The primary patients of neonatology are newborn infants who were born ill or became ill shortly after birth.

Here is a quick overview of this medical concentration, for those unfamiliar.

Origins of Neonatology

Neonatology is a very recent concentration of pediatrics. High infant mortality rates existed as early as the late 1800s. The first premature infant incubator station was created in Chicago by Joseph DeLee. The first NICU (newborn intensive care unit) was established in New Haven, Connecticut. Neonatology was officially recognized as an official subspecialty of pediatrics in 1975 by the American Board of Pediatrics.

Modern Neonatologists

Modern neonatology physicians are not here to help with minor problems; a normal pediatrician will be able to assist with most medical issues in infants. A neonatologist is trained to deal with high-risk situations. Premature babies, birth defects, and other serious issues are handled by neonatologists.

Neonatologists are serious doctors, and it takes serious time to become qualified. In addition to a standard college education, a doctor must have 4 years of medical school, 3 years of residency in pediatrics, 3 more years of residency in newborn intensive care, and they must be certified by the American Board of Pediatrics.

In addition to neonatologists, there are neonatal nurse practitioners. These nurses are specialized in neonatal care, and they will be assisting the physician along the way. They are able to diagnose some issues, prescribe medication, and some can even perform medical procedures themselves.

A neonatologist may assist with the diagnoses of breathing disorders, certain infections, and birth defects. They will also be the primary strategist in treatment options for an infant. They will formulate nutrition plans to make sure an infant will have maximum growth. A neonatologist will work closely with other medical staff, pediatricians, and nursing staff to assist with any serious illnesses in newborns.

Neonatologists are Best for Newborns

Minor problems for adults could mean possible death for an infant. That’s why specialists are needed for infants. There are also many common postpartum issues that a neonatologists can assist with. Many of these are routine for them; however, rare diseases and disorders can be diagnosed by a neonatologist as well.

Neonatal jaundice, neonatal cancer, inborn errors of metabolism, neonatal diabetes mellitus, neonatal herpes simplex, and neonatal seizure are a few of the more common problems a neonatologist will assist with.

The Prevention of Cystic Fibrosis in Newborns

By Dr. Allen Cherer

On February 14, 2019

In Neonatal Care, Newborn Screening, Newborns, Research

Cystic fibrosis is one of the most common conditions caused by genetics. One baby out of every 3,500 live births will have cystic fibrosis. Cystic fibrosis affects the respiratory and digestive systems. Normally, the mucus that lines organs in the body is thin and slick with a consistency slightly thicker than water. Babies who are born with cystic fibrosis have mucus that is sticky and thick. If the mucus builds up, it makes breathing difficult. Additionally, the thick mucus can prevent nutrients from being absorbed properly, which may lead to poor growth.

Causes of Cystic Fibrosis

Cystic fibrosis is a genetic condition and must be inherited from a parent. A gene mutation causes cystic fibrosis. When it is passed on to a child, the baby will be born with the condition. There is no way to prevent cystic fibrosis from occurring in newborns.

Diagnosis of Cystic Fibrosis

In the United States, newborns are regularly screened for cystic fibrosis. A small amount of blood is taken from the newborn and examined for high levels of a chemical called immunoreactive trypsinogen (IRT). If IRT levels are higher than normal, a secondary test will be run in order to rule out other conditions that can also present with high IRT levels.

The second test is known as a “sweat test.” Newborns with cystic fibrosis have more salt in their sweat than normal. Medication will be administered to the baby that causes sweat to form. This sweat will then be tested for sodium levels. If sodium levels are high, cystic fibrosis is typically diagnosed. Additional tests, such as genetic tests, may also be performed to confirm the diagnosis.

Treatment of Cystic Fibrosis in Newborns

When diagnosed early, cystic fibrosis has a higher success rate of treatment. Prescription medications can help prevent infections from occurring, reduce lung damage and decrease inflammation. Physical therapy will help loosen the thick mucus and make it easier for babies to breathe. A special diet will help increase food absorption and help newborns with the condition grow and thrive.

Cystic fibrosis is a life-threatening condition that requires continual care. Though there is no way to prevent cystic fibrosis in newborns, medical advancements can help babies diagnosed with the condition live longer and healthier lives than ever before.

Neonatology: a Brief History

By Dr. Allen Cherer

On January 16, 2019

In Neonatal Care, Newborn Screening, Newborns

Physicians and scientists began recognizing that premature or ill newborns required specialized care in the 1700s. However, it would be another century before a physician would take the first steps toward improving neonatal health. In the coming years, advancements in science and technology steadily enhanced the chances that preterm infants survived.

19th Century

French obstetrician Etienne Stephane Tarnier recognized that premature infants were unable to maintain their body temperature. The physician invented the first incubator using a wooden box with a glass lid. The heat was provided by a hot water bottle. As a result, infant mortality decreased by 28 percent.

Pierre-Constant Budin trained under Dr. Tarnier and became a pioneer in neonatal nutrition during the late 1800s. Dr. Budin was aware of the risks of feeding newborns cow’s milk due to pathogens. He encouraged his new mothers to breastfeed. He was also responsible for introducing tube feeding for preemies who were unable to feed naturally.

By the early 1900s, Martin Couney, one of Dr. Budin’s students, improved upon Tarnier’s incubator design. However, the medical community was not accepting and the devices were not used in hospitals. In order to gain attention for the need, Dr. Couney began treating infants free of charge and demonstrated his invention at expositions and fairs.

20th Century

For the most part, premature or ailing infants were not provided medical care. It was not until after World War II that the medical community recognized the need to offer specialized care. During this era, hospitals began developing “Special Care Baby Units” that eventually evolved into NICUs. Along with providing sufficient warmth, the units ensured that the infants received oxygen. There was also increasing awareness of an infant’s susceptibility to infection, which led to stringent hand washing.

Formulas for premature infants were introduced during this time. The formulas contained increased levels of calcium, phosphorus, sodium and protein. However, the high protein levels soon created a number of problems. As such, whey proteins were used.

Beginning in the 1960s, laboratory tests and values were established to monitor infant health. Physicians created a way to evaluate blood gases, bilirubin levels and liver function along with checking electrolytes, blood sugar and oxygen levels.

Advancements in knowledge and technology meant that infants born after 23 weeks of gestation had a survival rate of 33 percent. Infants born after 24 weeks had a survival rate of 66 percent. The survival rates continue growing each year.

DNA Sequencing Could Change How We Look at Genetic Neonatal Diseases

By Dr. Allen Cherer

On January 16, 2019

In Neonatal Care, Research

DNA sequencing is one of the most promising new technologies in terms of identifying the risk of disease, but it might not quite be ready for market. But regardless of concerns that DNA sequencing isn’t yet a safe screening method for newborn infants, chances are very strong that it will become a regular toolkit in preventative medicine sooner rather than later.

Routine blood tests are already part of standard procedure for infants born in the United States, and these tests can provide some substantive insight into potential future risks. But while a routine blood test can help identify dozens of different genetic conditions, that’s just scratching the surface of what can be accomplished with DNA sequencing. A study published in the American Journal of Human Genetics conducted DNA sequencing on 159 babies and found that 9% displayed anomalies that could predict genetic diseases that could appear in childhood. These include congenital heart disease and hearing loss.

But how much of an effect this testing could have on the health of infants is still an open question. Even co-author Alan Beggs questions how much substantive and actionable intelligence will arise from these genetic markers, at least for now. Nine percent is a low number, and many of these issues can be uncovered with the existing blood testing. Then there’s the fact that many of these genetic markers are not that well understood yet, and it can be difficult to understand how high of a risk such a genetic marker would actually pose.

Finally, there are a number of ethical and practical questions to consider. It can be hard to unpack issues of consent when dealing with the very genetic makeup of a child, and the rules behind the sharing of personal data, even as a means to better understand the map of human DNA, is still something like the Wild West. Finally, there are questions of how accessible this technology is and the costs associated for both medical providers and patients.

The running consensus now seems to be that DNA sequencing may be a beneficial choice in specific instances where parents are concerned about severe genetic disorders, but it’s not quite ready for primetime. As the technology and research continues to develop, it will likely become standard practice as a complement rather than a replacement for standard and accepted blood tests.

Fine-tuning the Elimination of Perinatal Hepatitis B Infection

By Dr. Allen Cherer

On February 13, 2018

In Neonatal Care

Hepatitis B virus (HBV) infection is a serious illness in the newborn and young infant. The virus, first discovered in the mid-1960s, is transmitted through percutaneous (i.e., puncture through skin) or mucosal (i.e., direct contact with mucous membranes) exposure to infectious blood or body fluids. The virus is highly infectious, can be transmitted in the absence of visible blood, and remains viable on environmental surfaces for at least seven days. Once the virus enters the body, it is transported to the liver where it replicates. Although one generally thinks of the acute illness as a self-limited one in the adult with characteristic signs and symptoms, HBV infection in the infant is almost exclusively asymptomatic and hence, unrecognized. The devastating aspect of the infection is that the infant and young child frequently fail to clear the virus, and the illness becomes chronic. As many as 80-90% of infected infants progress to chronic infection, and chronically infected persons as adults are at increased risk of cirrhosis, hepatocellular carcinoma, and liver failure with approximately 25% dying from these serious complications.

Before 1982, an estimated 200,000-300,000 persons in the U.S. alone were infected with HBV annually, including approximately 20,000 infants. No effective pre-exposure prophylaxis existed, and only post-exposure prophylaxis in the form of hepatitis B immune globulin (HBIG) was available. However, the first hepatitis B vaccine was approved in the United States in 1981 and proved to be a real game changer. The availability of the vaccine set the stage for remarkable progress in the elimination of HBV infection among all age groups. With the advent of an effective vaccine, incurable hepatitis B infection had become preventable. The vaccine saves lives!

It is in this setting of disease prevention through widespread vaccination that an evolving strategy to eliminate perinatal hepatitis B infection was initiated over 30 years ago. Early epidemiological studies had demonstrated that a major contributor to perinatal HBV infection is mother-to-child transmission (MTCT) at the time of delivery. In utero infection is felt to account for less than 2% of infections. The risk of transmitting the virus was estimated to be 20-80% depending on the activity of the maternal infection. Initial attempts in the early 1980s to limit vertical HBV transmission were risk-based and aimed at identifying those pregnant women considered infectious by virtue of the serum marker, HBsAg. With reliable identification of mothers and expeditious treatment of their newborns with hepatitis B vaccine and HBIG, HBV infection could be prevented. However, it became clear within several years that such screening was inadequate with as many as 35-65% of HBsAg-positive women being missed. Consequently in 1988, the Advisory Committee on Immunization Practices (ACIP) of the Centers for Disease Control and Prevention recommended universal testing of all women early in each pregnancy such that at risk babies would receive appropriate post-exposure HBV prophylaxis. Throughout the 1990s, efforts were intensified to eliminate all HBV-related illness through widespread vaccination of children, adolescents, and at-risk adults. Studies showed that receipt of the 3-dose hepatitis B vaccine series produced a protective antibody response in approximately 98% of healthy infants. During 1990-2004, the incidence of acute hepatitis B in the U.S. declined by 75%. The greatest decline (94%) occurred among children and adolescents, most likely due to increasing hepatitis B vaccine coverage. As of 2004, over 92% of children less than 3 years of age had been fully vaccinated with the complete series.

Coupled with the remarkable success of the hepatitis B elimination strategy is the knowledge that the task is not complete. As a response to the persistence of perinatal HBV infection and aware that errors in testing as well as in communication of results may occur, ACIP has recommended a change in the administration of the initial hepatitis B vaccine dose over time. Initially, the first dose could be administered to an infant born to a HBsAg-negative mother any time from birth to 2 months of age. Subsequently the initial dose became the “birth dose” with the recommendation that it be given prior to discharge, and in 2017, the initial dose was to be administered within 24 hrs of birth. The previous permissive language that allowed the dose to be delayed “on a case-by –case basis and only in rare circumstances” was omitted. Based on the fact that the vaccine alone is 75% effective in preventing MTCT, these changes reflect reality and provide basic protection. Then too, the emerging concept that maternal viral load (HBV DNA) plays a significant role in risk of MTCT now plays a prominent role in management. Testing pregnant HBsAg-positive women for HBV DNA is now recommended to guide the use of antiviral therapy during the third trimester for the purpose of preventing perinatal HBV transmission.

Congenital Hypothyroidism and Newborn Screening

By Dr. Allen Cherer

On April 12, 2017

In Child Health Care, Neonatal Care, Newborn Screening, Newborns

Newborn screening for Congenital Hypothyroidism (CH) is a major public health achievement. Thyroid hormone is essential for the maturation of brain function and somatic growth, and its deficiency early in life can lead to mental retardation. For the fetus, maternal thyroid status is important during the first half of gestation; thereafter, the fetus’ hypothalamus-pituitary-thyroid axis is functional in the normal situation. For the hypothyroid newborn, it is well documented that provision of thyroid hormone is critical during the first weeks of life to avoid severe intellectual impairment. Notably, congenital hypothyroidism is considered one of the most common preventable causes of mental retardation.

Studies showed that affected newborns were rarely identified during the first months of life and were often missed until 1-3 years of age. Congenital hypothyroidism was found to be an ideal candidate with the introduction of dried blood newborn screening by Dussault in Canada. With the development of increasingly sensitive assays to measure thyroid hormone (T4) and thyroid stimulating hormone (TSH) using a dried blood spot (DBS), newborn screening programs have developed throughout much of the world. In the 1980s, the incidence of CH in the United States was estimated to be 1:3000-1:4000. More recently, screening programs have reported an increased incidence of 1:1400-1:2800, most probably due to changes in screening strategies and the identification of milder cases.

Typically, newborn screening requires a heel stick blood specimen obtained at 48-72 hrs of life prior to an infant’s discharge from the hospital. Most current assays measure TSH alone as an indicator of thyroid function. Results above established cutoff levels generally signify thyroid gland dysfunction and indicate further testing. Although most helpful in early identification of term newborns with anatomic or functional thyroid gland abnormalities, the screening does miss a percentage of newborns, for example those with central hypothyroidism due to hypothalamic-pituitary failure and the increasingly larger group of preterm infants with congenital hypothyroidism who demonstrate delayed elevations in TSH. Numerous questions remain regarding the optimal timing of follow up laboratory studies and even treatment of certain types of newborn thyroid dysfunction.Nevertheless, newborn screening has proved invaluable for the great number of affected newborns.

The American Academy of Pediatrics recommends the measurement of TSH in all newborns with the goal that all infants with CH be identified by 2 weeks of age and that effective treatment with thyroid hormone replacement be started such that serum TSH levels less than 5 mIU/L be achieved within 4 weeks of diagnosis. Unfortunately, despite the significant successes following early identification and treatment of newborns with CH, obstacles persist in reaching the Academy’s goals. Screening programs continue to be plagued with the practical problems of screening all newborns, particularly those discharged home early who are lost to recall or lost to follow up altogether. In addition, dried blood specimens are collected or processed improperly. Delays occur with recall of infants with abnormal results and with appropriate referrals for definitive treatment and management. A recent study conducted in Utah and reported at the 86^th Annual Meeting of the American Thyroid Association highlights some of the problems which currently exist. After reviewing the TSH assays of 4394 children under 2 years of age, 48% of initial samples with elevated levels (>20 mIU/L) were obtained after the first 2 weeks of life, 15% of the initial abnormal TSH assays were not retested, and only 34% of those infants with initial elevated TSH assays achieved the goal of TSH < 5 mIU/L within 28 days of the initial assay.

The final message is that it is not enough to rely on the known efficacy of newborn screening for congenital hypothyroidism, but greater vigilance must be exercised to maximize its benefits in the lives of children.

Ehrenkranz J, Butler A, Snow G, Bach P. oral Abstract 19. The Diagnosis and Treatment of Congenital Hypothyroidism in Utah 2006-2015. Presented at: American Thyroid Association Annual Meeting; September 21-25, 2016; Denver, Colorado

Noting the Extraordinary Success of Hib Vaccination

By Dr. Allen Cherer

On September 9, 2016

In Neonatal Care, Research

August is observed as National Immunization Awareness Month and is a time to highlight the extreme importance and value of vaccination for people of all ages. Vaccination serves as one of the best ways to protect infants, children, and adolescents from sixteen potentially harmful, and even deadly, diseases. Although it is common to think of the vaccines against measles, pertussis, and polio, an astonishingly important vaccine since the end of the 20th century has targeted the bacteria, Haemophilus influenzae type b (Hib).

Haemophilus influenzae is a small, pleomorphic, gram negative coccobacillus. Some strains of H. influenzae possess a polysaccharide capsule, and these strains are serotyped into six different types (a-f) based on their biochemically different capsules.

The H. influenzae strains with no capsule are termed nonencapsulated H. influenzae or nontypable H. influenzae (NTHi). H. influenzae type b is the most virulent, with its polysaccharide capsule being the main factor. Antibody to the capsule is the primary contributor to serum bactericidal activity, and increasing levels of antibody are associated with decreasing risk of invasive H. influenzae disease.

H. influenzae type b most commonly causes pneumonia, bacteremia, meningitis, epiglottitis, and cellulitis. Non-type b encapsulated forms present in a similar manner to type b infections, while non typable strains more commonly cause infections of the respiratory tract, such as pneumonia, otitis media, sinusitis, and conjunctivitis.

Generally, the mode of transmission is person to person by inhalation of respiratory tract droplets or by direct contact with respiratory tract secretions. Pharyngeal colonization by H. influenzae is relatively common, especially with nontypable and non-type b capsular strains.
Before effective Hib conjugate vaccines for infants older than 2 months were available in 1990, Haemophilus influenzae type b was the leading cause of invasive bacterial disease among children in the United States.

One in 200 children developed invasive Hib disease by 5 years of age; approximately 60% of these children had meningitis and 3-6% died from the disease. Of the Hib meningitis survivors, many exhibited permanent sequelae ranging from mild hearing loss to mental retardation.

Sadly, I recall as a Pediatric resident admitting to the hospital at least one infant with H. influenzae type b meningitis almost every night when on call.Remarkably, since the introduction of Hib conjugate vaccines in the United States, the incidence of invasive Hib disease has decreased a stunning 99% to fewer than 1 case/100,000 children younger than 5 years of age, and in 2012, only 30 cases of invasive type b disease were reported in children under 5 years old.

Truly, it has been an amazing accomplishment. Nevertheless, the risk for invasive Hib disease persists among unimmunized and underimmunized children, highlighting the importance of full vaccination with the 2 or 3 injection (depending on the product) series between 2 and 6 months old and a single booster dose given between 12 and 15 months of age.

Certain additional doses may be indicated over 5 years of age depending on medical conditions, such as anatomic or functional asplenia, hematopoietic stem cell transplantation, or HIV infection. The Hib vaccine is very safe. The most common side effects are usually mild and consist of fever and rednesss, swelling, or warmth at the injection site. As with all current vaccines, significant advances and improvement in public health have been witnessed. It is incumbent upon each of us to maintain that success.

Providing Care for Drug-exposed Newborns: Time for the Next Step

By Dr. Allen Cherer

On September 6, 2016

In Child Health Care, Neonatal Care, Newborns, Research

During the years 1999-2013, the amount of prescription opioids dispensed in the United States nearly quadrupled, and since 2000, it is estimated that opioid use during pregnancy has tripled. Notably, the tragic consequences of the extreme availability of such drugs include abuse, physical dependence, and increasingly, death through inadvertent overdose.

In addition, for the individual pregnant woman, a minimum of two lives is affected: her own and that of her unborn child. The prevalence of prenatally exposed newborns to one or more illicit drugs approximates 6%. Neonatal Abstinence Syndrome (NAS) refers to the withdrawal symptoms from physical dependence experienced by the newborn exposed during pregnancy generally to illicit drugs, prescribed drugs, or to those opioids employed in medication-assisted treatment of maternal opioid addiction.

Withdrawal symptoms can vary markedly in terms of time of onset and severity but typically manifest as tremulousness, agitation, sleeplessness, and poor feeding. NAS increased threefold from 2000-2009 and frequently requires prolonged newborn hospitalization. It has been reported that aggregate hospital charges for NAS increased from 732 million dollars to 1.5 billion dollars with approximately 80% attributed to state Medicaid programs in 2012. Clearly, NAS is a costly public health problem resulting in significant human suffering and expense.

Traditionally, infants who are known to be at risk for NAS have been monitored in the postpartum unit after birth for at least 96 hours and withdrawal symptoms scored based on the Finnegan Scale developed in the mid 1970’s. Typically, if the scores exceed certain values, the newborn is admitted to a Special Care Unit where pharmacologic treatment is frequently started. As withdrawal symptoms subside, dosing is gradually tapered and ultimately stopped. The newborn is observed off medication and monitored for recurrence of disabling withdrawal symptoms. The entire process can generally result in a prolonged Special Care Unit hospital stay of 2-10 weeks.

With the seemingly overnight explosion in the number of newborns demonstrating withdrawal symptoms in the early 2000’s, medical caregivers and hospitals were caught off-guard. On short notice, staff addiction education, medication and weaning protocols, general care policies, and hospital space allocation were required. After a number of years of concerted, collaborative work, much has been learned and achieved in improving the care of the substance-exposed infant.

Nevertheless, pharmacologic treatment continues to require prolonged hospital stays, often in costly Special Care Units. In addition, it effectively excludes full participation by the eventual sole primary caregivers, ideally the parents. It is with these disturbing issues in mind that it is refreshing to note the work and studies over the past several years to further optimize the care provided to infants with NAS and their families.

One of the earlier studies to suggest the therapeutic benefits of a different approach to caring for the drug-exposed infant was that of Abrahams et al. published in the Canadian Family Physician in 2007. During the same period of frenzy involving inpatient hospital transfers, guaranteeing interobserver scoring reliability, pharmacologic treatment protocols, and nursing care directives, the Canadian group with extensive previous experience in addiction medicine reported in a retrospective cohort study the benefits of a rooming-in policy whereby infants remained with their mothers as primary caretakers.

They noted that infants who roomed-in were less likely to require pharmacologic therapy for withdrawal and more likely to be discharged to mother’s care compared to infant’s who received standard nursery care. Subsequently, other retrospective cohort studies both in Europe and the United States demonstrated equally beneficial effects of rooming-in regarding decreased requirement for pharmacologic therapy and decreased duration of hospital stay.

Most recently, the results of a quality collaborative project from the Children’s Hospital at Dartmouth Hitchcock were described in the May, 2016 Pediatrics and demonstrated the beneficial effects of combined standardized protocols and family-centered care in the management of the drug-exposed infant. Over time, the project safely reduced the number of infants requiring pharmacologic therapy, average length of stay, and overall hospital costs.

Among others, key drivers to success were prenatal education of family caregivers including expressed expectation that they would provide meaningful rooming-in care, baby-centered NAS scoring including on demand feeding schedules, pharmacologic therapy when necessary with dosing adjustment based on overall infant condition rather than solely Finnegan score and determined by a consistent team, and an infant “snuggler” volunteer program to assist families when times required their absence.

Overall, the project demonstrated that despite many practical obstacles to providing high quality care for drug-exposed newborns and their families in the hospital setting, where there’s a will, there’s a way.

Promoting Safe Sleep for Infants

By Dr. Allen Cherer

On June 12, 2016

In Child Health Care

Very few life events result in the anguish that comes with the death of an infant, especially one that is sudden and unexpected. Each year in the United States, approximately 3500 sudden, unexpected infant deaths (SUIDs) occur generally between the ages of 1 month and 1 year at a time when most infants sleep between 12 -18 hours/day.

They consist of three main types with Sudden Infant Death Syndrome (SIDS) being the predominant one, and deaths due to unknown causes and those due to accidental suffocation and strangulation in bed (ASSB) comprising the remainder.

The combined SUID death rate declined markedly following the 1992 American Academy of Pediatrics infant sleep recommendations and the initiation of the Back to Sleep campaign in 1994 with a primary focus on supine positioning during all infant sleep.

The combined SUID death rate decreased again slightly in 2009, and since that time has remained fairly constant. On the other hand, the ASSB, traditionally the least common of the three main causes of SUID, mortality rate remained unchanged until the late 1990s and has started a slow increase with its highest point in 2014.

Due in part to the success of the Back to Sleep campaign and to the increasing incidence of other sleep-related causes of SUID, the American Academy of Pediatrics broadened its focus since 2005 to include other factors resulting in an unsafe sleep environment and contributing to sleep-related infant deaths.

It is important to remember that the recommendations from the Safe to Sleep campaign are wholly derived from case-control studies and are based for the most part on epidemiologic studies including infants up to 1 year of age. The recommendations should therefore be applied to infants up to 1 year of age, except for those individuals in whom medical conditions warrant modification.

When it comes to safe sleep environment, remember the phrases “Back to Sleep”, “Bare is Best”, and “Room-sharing without Bed-sharing”. The basic underlying point to promote a safe sleep environment starts with every caretaker positioning every healthy infant on his or her back for every sleep.

Protective airway mechanisms prevent choking and aspiration. Only those infants with significant upper airway disorders warrant modification. Side sleeping is not recommended, and elevation while supine can be complicated by respiratory compromise if the infant’s position changes.

Preterm infants requiring prolonged hospitalization should also be maintained in the supine position during sleep when they are medically stable and long before they are ready for discharge to home.

Although the general recommendation pertains to infants up to one year of age, once an infant is capable of rolling from supine to prone and vice versa, the infant can remain in the sleep position that he or she assumes.
Since infants spend almost all of their time in a crib, bassinet, or play yard, these environments are especially important. Many infant deaths are associated with broken cribs with loose or missing parts.

Cribs should be no older than ten years and conform to the safety standards of the Consumer Product Safety Commission. Before use, the product should be checked for previous recall. Cribs require narrow slats and stable sides. Since 2011, federal safety standards prohibit the sale of drop side rail cribs. Specific mattresses designed for the crib should be firm and covered with a fitted sheet.

There should be no gaps larger than two finger breadths between the mattress and the crib. Soft materials or objects, such as pillows, comforters, or sheepskins even when covered with a sheet , should not be placed under a sleeping infant. Research shows that babies who sleep on soft surfaces which allow the baby’s head to sink into the surface are at higher risk for SIDS and suffocation.

If an infant falls asleep in a sitting device, such as a car safety seat, stroller, swing, or infant carrier, he or she should be removed from the product and moved to a crib or other appropriate firm flat surface as soon as practical.

When infant slings or cloth carriers are used, the infant’s head should be up and above the fabric, the face visible, and the nose and mouth not obstructed. The crib surface should be free of stuffed animals, pillows, toys, bumper pads, or blankets to reduce the risk of suffocation or entrapment. The crib, bassinet, or play yard should be positioned away from wall hangings, and the area should be free of blind and curtain cords which can result in strangulation.

Room-sharing without bed-sharing is recommended and is most likely to prevent accidental suffocation especially from overlaying, strangulation, and entrapment that might occur when an infant is sleeping in an adult bed. Soft mattresses, pillows, quilts, and loose bed linens provide a high risk environment for infants. Certainly, infants can be brought into the bed for feeding or comforting but should be returned to their own crib or bassinet when the parent is ready to return to sleep.

Epidemiologic studies have demonstrated increased risks for SIDS and suffocation when bed-sharing involves infants less than three months of age, other children or multiple persons, and caretakers who are excessively tired, current smokers, or are using medications or substances that impair alertness or ability to arouse. It is best to provide separate sleep areas and avoid co-bedding for twins and higher multiples in the hospital and at home.

Certain sudden, unexpected infant deaths are not preventable. Continuing research particularly related to SIDS will provide new insights into the mechanisms resulting in this tragedy. Nevertheless, vigilance in attending to those modifiable environmental risk factors is highly desirable.

Newborn Screening and Severe Combined Immune Deficiency

By Dr. Allen Cherer

On May 15, 2016

In Child Health Care, Neonatal Care

April (April 22-29) has been designated as National Primary Immunodeficiency Awareness Month and provides an opportunity to better understand the more than 250 rare, genetic disorders in which the body’s normal immune system is absent or functions improperly. Since an important function of the immune system is to protect against infection, patients with primary immune deficiency have an increased susceptibility to infection.

Severe Combined Immune Deficiency (SCID), popularized in the 1976 movie “The Boy in the Plastic Bubble”, is generally considered to be the most serious of the primary immunodeficiencies. There are at least 13 different genetic defects that can cause the disease; all of which are present at birth, involve missing T lymphocytes which are important in identifying and attacking perceived “invaders”, and affect the function of B lymphocytes which produce antibodies against infection.

The absence of T lymphocytes and antibody immunity results in severe infections, diarrhea, and failure to thrive. Regardless of the genetics, patients invariably succumb to an early death due to overwhelming infection. New approaches to diagnosis and management have changed what at one time was a dismal prognosis.

Treatment options have come a long way over the past 4 decades and include enzyme replacement, bone marrow transplant, and gene therapy. Paramount to this change is early diagnosis before the infant has had a chance to develop any serious infections.

The most effective therapy to date is immune reconstitution via stem cell transplant which has been shown to be highly successful (94%) if performed by 3.5 months of age. Hence, timing is crucial in terms of diagnosis and treatment.

Typically, infants with SCID appear totally normal at birth and have no family history of immunodeficiency. In the past, patients were primarily identified either by previous family history, physical manifestations, or after onset of life-threatening infection. Early identification of SCID has been achieved through the use of the 7-cell receptor excision circle (TREC) assay as part of the routine newborn screening program.

Absent or low TREC levels can indicate insufficient T lymphocyte production characteristic of SCID, as well as low T lymphocyte, non-SCID conditions as seen in DiGeorge Syndrome, Trisomy 21, CHARGE Syndrome, and ataxia telangiectasia. On May 21, 2010, The U.S. Department of Health and Human Services (HHS) recommended that every state include the assay as part of the newborn screen.

In the landmark study based on retrospective data on more than 3 million infants from 11 newborn screening programs using the TREC methodology conducted by Jennifer Puck, MD and colleagues and published August 20, 2014 in The Journal of the American Medical Association, the value of early detection and treatment of SCID was confirmed.

In addition, the study found an incidence rate almost twice as great (1 in 58,000 births) as had been previously estimated. Since the point of newborn screening is to identify conditions for which early treatment is life-saving, the study was a crucial step in the adoption of universal screening.

As of April 1, 2016, all, except for 11, states have adopted routine newborn screening programs for SCID. A 2016 study published in the Journal of Pediatrics by Ding and others provided an eloquent cost-benefit analysis of newborn screening in the treatment of Severe Combined Immune Deficiency.

Based on data obtained from 86,000 infants in Washington state, the study showed that newborn screening for SCID is clearly cost-effective. Hopefully, the study provides additional support in economic terms for the adoption of universal screening programs in all 50 states.