What's new in pediatrics
Disclosures:
Alison G Hoppin, MD
Nothing to disclose.
Melanie S Kim, MD
Nothing to disclose.
Elizabeth TePas, MD, MS
Nothing to disclose.
Mary M Torchia, MD
Nothing to disclose.
Carrie Armsby, MD, MPH
Nothing to disclose.
Contributor disclosures are
reviewed for conflicts of interest by the editorial group. When found,
these are addressed by vetting through a multi-level review process, and
through requirements for references to be provided to support the
content. Appropriately referenced content is required of all authors and
must conform to UpToDate standards of evidence.
All topics are updated as new evidence becomes available and our peer review process is complete.
Literature review current through:
Nov 2015.
|
This topic last updated:
Dec 04, 2015.
The following represent additions to UpToDate from the past six
months that were considered by the editors and authors to be of
particular interest. The most recent What's New entries are at the top
of each subsection.
GENERAL PEDIATRICS AND ADOLESCENT MEDICINE
Cost analysis following implementation of the Low Risk Ankle Rule in children (December 2015)
Use of the Low Risk Ankle Rule (LRAR) (figure 1)
in addition to routine physical examination for children 3 to 16 years
of age with acute isolated ankle injuries may help determine when plain
radiographs of the ankle are not required and has been associated with
reduced ankle radiography. In a cost analysis of over 2100 children
undergoing evaluation for ankle injuries at multiple facilities, use of
the LRAR was associated with significant overall cost reductions when
compared with routine clinical practice [1]. The greatest savings were due to lower radiography costs and fewer orthopedic or emergency department follow-up visits. (See "Ankle fractures in children", section on 'Low Risk Ankle Rule'.)
Prevention of positional skull flattening (deformational plagiocephaly) (October 2015)
The
frequency of positional skull flattening (deformational
plagiocephaly) has increased, in part because of supine sleep
positioning to prevent sudden infant death syndrome. Additional risk
factors include limited head rotation and decreased activity levels.
In a recent trial that randomly assigned parents to receive guidance on
infant positioning to prevent sudden infant death syndrome (control
group) or this guidance plus detailed advice about infant environment,
handling, and positioning (intervention group), infants in the
intervention group had a lower rate of positional flattening and less
severe asymmetry [2].
Thus, creating a nonrestrictive infant environment that encourages
spontaneous physical movement and enhances symmetrical motor development
can prevent or diminish the severity of positional skull flattening.
(See "Overview of craniosynostosis", section on 'Positional flattening (positional plagiocephaly)'.)
Outdoor activity for prevention of myopia in children (October 2015)
The
prevalence of myopia (nearsightedness) increases throughout childhood,
particularly during and after puberty. Myopia often progresses as
children grow older and high levels of myopia are associated with an
increased risk of sight-threatening complications later in life (eg,
myopic macular degeneration and retinal detachment). In a recent study,
1913 school children in China were randomized (by school) to an
additional daily 40-minute outdoor class or usual activity [3].
The cumulative incidence rate of myopia over three years was lower in
the intervention group compared with the control group (30 versus 40
percent). This is the first study to demonstrate an effective
preventative strategy. Increasing the amount of time children spend
outdoors is a simple intervention and can be discussed with patients and
their families as a strategy to reduce the risk of developing myopia and/or slow its progression. (See "Refractive errors in children", section on 'Myopia'.)
Prevention of alcohol use in children and adolescents (October 2015)
Alcohol
is frequently used by children and adolescents in the United States
and its use is associated with death and serious injury. In August 2015,
the American Academy of Pediatrics (AAP) released a clinical report
encouraging pediatric clinicians to talk about the dangers of alcohol
with children as young as nine years of age, when they may begin to form
positive attitudes towards alcohol [4].
The AAP also recommends screening all youth for alcohol use with a
structured screening instrument, either as part of more general
substance use screening or, if time is limited, with an instrument that
focuses on alcohol, such as the two-question screen developed in
collaboration with the National Institute on Alcohol Abuse and
Alcoholism (table 1). We agree with these recommendations. (See "Screening tests in children and adolescents", section on 'Alcohol and substance use'.)
E-cigarette use and use of combustible tobacco products (August 2015)
Studies
have associated e-cigarette use with an increased risk of conventional
cigarette smoking among youth. A new prospective study was conducted in
2530 ninth-grade students who had never used a combustible tobacco
product and compared students who had ever used e-cigarettes with never
users [5].
Compared with never users, ever users of e-cigarettes were more likely
to report use of any combustible tobacco product at both 6-month (31
versus 8 percent) and 12-month (25 versus 9 percent) follow-up.
Additionally, after adjusting for other risk factors for smoking,
baseline e-cigarette use was associated with a greater likelihood of use
of any combustible tobacco product (OR 2.7), including conventional
cigarettes, cigars, and hookahs. (See "E-cigarettes", section on 'Effect on smoking initiation among youth'.)
Breastfeeding and childhood leukemia risk (July 2015)
Several
studies have suggested that breastfeeding is associated with a modest
reduction in childhood cancers. Now, a meta-analysis of case-control
studies has found that breastfeeding for six months or more is
associated with a 19 percent reduction in the risk of childhood
leukemia [6].
A smaller protective effect also was detected for shorter durations
of breastfeeding. Possible mechanisms for the observed association
include enhancement of the immune system or modification of the infant's
microbiome. (See "Infant benefits of breastfeeding", section on 'Cancer'.)
Improving uptake of long-acting reversible contraceptives (July 2015)
Long-acting
reversible contraceptives (LARC), which include implants and
intrauterine devices, are the most effective reversible methods to
prevent pregnancy. Interventions that increase LARC use lower the rate
of unintended pregnancy. In a trial of 1500 women who were randomly
assigned to receive either standardized counseling for LARC or routine
contraceptive counseling, standardized counseling resulted in increased
LARC use and a reduction in unintended pregnancies (8 versus 15 percent)
[7]. Introduction
of affordable LARC methods in the state of Colorado from 2009 to 2013
was associated with an approximately 40 percent reduction in teen birth
and abortion rates compared with previous years [8]. These data add further support to our suggestion to use LARC for women who desire reversible contraception. (See "Overview of contraception", section on 'Effectiveness'.)
NEONATOLOGY
Rapid correction of neonatal hypoglycemia and neurodevelopmental outcomes (November 2015)
When
parenteral glucose administration is used to treat neonatal
hypoglycemia in asymptomatic newborns, it is typically initiated with a
bolus 2 mL/kg of 10 percent dextrose in water followed by a continuous infusion of 4 to 6 mg/kg/min.
However, a study of asymptomatic newborns (gestational age ≥35 weeks)
at risk for hypoglycemia found rapid correction of hypoglycemia was
associated with poorer neurodevelopmental outcomes at two years of age [9]. These results support starting therapy with continuous glucose infusion and bypassing the initial bolus of 2 mL/kg. (See "Management and outcome of neonatal hypoglycemia", section on 'Parenteral glucose (dextrose) infusion'.)
Endotracheal
suctioning does not benefit nonvigorous neonates with meconium-stained
amniotic fluid (May 2015, Modified November 2015)
New American Heart Association, American Academy of Pediatrics, and International Liaison Committee on Resuscitation guidelines no longer recommend
routine endotracheal suction for nonvigorous (depressed) newborns with
meconium-stained amniotic fluid in the delivery room (ie, newborns with
absent or depressed respirations, decreased muscle tone, or heart rate
less than 100 beats/minute) [10,11]. This
change was prompted by findings from a recent randomized clinical trial
of endotracheal suctioning versus no suctioning in 122 nonvigorous term
newborns with meconium-stained amniotic fluid [12]. No
differences were observed between groups in meconium aspiration
syndrome, need for mechanical ventilation, survival at nine months of
age, and mental and motor developmental status at nine months of age.
Our criteria for intervention for newborns with meconium-stained
amniotic fluid are the same as those used for intervention in all
neonates (algorithm 1). (See "Prevention and management of meconium aspiration syndrome", section on 'Neonatal care' and "Neonatal resuscitation in the delivery room", section on 'Next steps'.)
Defining neonatal hypoglycemia (October 2015)
Defining significant
neonatal hypoglycemia requiring intervention based on blood glucose
level remains challenging, as illustrated by a recent large prospective
study of newborns delivered at ≥35 weeks and at risk for hypoglycemia
(eg, maternal diabetes, large for gestational age, fetal growth
restriction, prematurity) [9]. Hypoglycemic infants who were treated to maintain blood glucose above 47 mg/dL (2.61 mmol/L)
had similar neurodevelopmental outcomes at two years of age as infants
who did not develop hypoglycemia within 48 hours of birth. However,
these findings did not provide a definitive threshold
for treating neonatal hypoglycemia. We continue to use threshold
goals that provide a margin of safety for infants at risk for
hypoglycemia that are consistent with guidelines developed by the
American Academy of Pediatrics and the Pediatric Endocrine Society. (See
"Pathogenesis, screening, and diagnosis of neonatal hypoglycemia", section on 'Challenge of defining neonatal hypoglycemia' and "Management and outcome of neonatal hypoglycemia", section on 'Target blood glucose levels'.)
Inhaled steroids and bronchopulmonary dysplasia (October 2015)
Systematic
reviews have reported that postnatal administration of inhaled
glucocorticoids (eg, budesonide) does not prevent bronchopulmonary
dysplasia (BPD) in high-risk extremely preterm infants (gestational age
less than 28 weeks). In contrast, a recent large randomized trial in
these infants found that early administration of inhaled budesonide
(within 24 hours after birth) decreased the incidence of BPD compared
with placebo (28 versus 38 percent) [13]. However,
a nonstatistical increase in mortality was also observed (16.9 versus
13.6 percent). The authors expressed concerns that the beneficial effect
of early inhaled budesonide on BPD prevention was at the expense
of increased mortality. We continue to not recommend
routine use of inhaled glucocorticoids to prevent BPD until further data
clearly demonstrate that this intervention is both efficacious and
safe. (See "Postnatal use of glucocorticoids in bronchopulmonary dysplasia", section on 'Prevention of BPD'.)
Conjunctival icterus and bilirubin levels in newborn infants (September 2015)
Based
on currently available data, the presence and extent of jaundice has
not been a consistently reliable method to predict total serum or plasma
bilirubin (TB) concentration for neonatal hyperbilirubinemia. However, a
recent observational study of 240 term or late preterm
neonates reported that conjunctival icterus may be a
useful clinical marker. In this study, all infants with conjunctival
icterus had TB levels that were either in the high intermediate or high
risk category for severe hyperbilirubinemia (defined as TB >25 mg/dL [428 micromol/L]) using the hour-specific Bhutani nomogram (figure 2) [14]. In addition, most infants with conjunctival icterus had TB >15 mg/dL (257 micromol/L).
These results suggest that TB or transcutaneous bilirubin levels should
be measured in an infant with conjunctival icterus as these infants are
at risk for developing severe hyperbilirubinemia. (See "Clinical manifestations of unconjugated hyperbilirubinemia in term and late preterm infants", section on 'Jaundice'.)
Filtered sunlight phototherapy for neonatal hyperbilirubinemia (September 2015)
A
recent Nigerian trial confirmed results from a previous observational
study that filtered sunlight using commercial window tinting films
(which selectively allow the transmission of blue light and removal of
significant amounts of harmful ultraviolet and infrared light rays) is a
safe and efficacious method for treating neonatal hyperbilirubinemia [15].
In this trial of 447 term and late preterm infants with an elevated
total serum bilirubin (TSB), filtered sunlight therapy for at least five
hours a day was as effective as conventional daytime phototherapy in
treating neonatal hyperbilirubinemia without adverse effects. Of note,
afternoon TSB were measured in all infants, and conventional nighttime
phototherapy was provided to all infants from both groups if their
afternoon TSB reached a targeted level for phototherapy. These data
suggest filtered sunlight phototherapy for neonatal hyperbilirubinemia
may be a reasonable option in resource-limited tropical regions with
limited availability of conventional phototherapy. (See "Treatment of unconjugated hyperbilirubinemia in term and late preterm infants", section on 'Sunlight exposure'.)
Prolonged hypoxia and increased late mortality and morbidity for extremely premature infants (August 2015)
A
meta-analysis of several large clinical trials of extremely premature
(EP) infants (gestational age <28 weeks) demonstrated low target
pulse oximetry levels of hemoglobin saturation (SpO2) compared with high target SpO2 levels
(85 to 89 versus 91 to 95 percent) were associated with increased
mortality at hospital discharge but not mortality or morbidity at 24
months corrected age (CA). However, in a subsequent post hoc analysis of
one of the included trials (Canadian Oxygen Trial), prolonged hypoxemic
episodes during the first two to three months after birth were
associated with late mortality or neurodevelopment impairment at 18
months CA [16]. Of note, this association was stronger for infants randomly assigned to the high SpO2 group than for those in the low SpO2 group. Nevertheless, based on currently available data, we continue to recommend an SpO2 target range between 90 to 95 percent for EP infants. (See "Oxygen monitoring and therapy in the newborn", section on 'Clinical trials'.)
Acetaminophen alone not effective in reducing neonatal pain (August 2015)
Acetaminophen
(paracetamol) has been used in the management of mild to moderate
procedural and postoperative neonatal pain. However, a recent systematic
review of randomized trials found that acetaminophen alone was not more
effective than placebo in preventing or reducing pain associated with
heel lance or eye examination in newborns [17].
As a result, we do not recommend using acetaminophen as the sole agent
in newborns to reduce pain from painful procedures. (See "Prevention and treatment of neonatal pain", section on 'Lack of efficacy'.)
Universal versus selective screening for patent ductus arteriosus in preterm infants (July 2015)
It
remains uncertain whether the outcome of preterm infants is improved by
universal echocardiographic screening for patent ductus arteriosus
(PDA) versus echocardiographic evaluation based on the presence of
clinical signs of PDA. Support for universal screening was provided by a
report from EPIPAGE 2, a French national prospective population-based
cohort study of extremely premature infants (born at 24 to 28 weeks of
gestation), that found screening for a PDA before day three of life
versus no screening was associated with lower in-hospital mortality and a
lower risk of pulmonary hemorrhage [18].
However, this study may be limited due to a potential bias that the
non-screening group may have included a greater proportion of more
severely affected infants. As a result, our clinical practice remains
selective echocardiography based on the presence of clinical signs of
PDA. (See "Management of patent ductus arteriosus in premature infants", section on 'Screening'.)
Effect of active resuscitation on survival at borderline viability (June 2015)
A major issue regarding
the ability to predict neonatal outcome at borderline viability is the
impact of initial management. Interpretation of outcome data should
always take into account whether neonatal resuscitation was offered at
delivery, because neonatal outcome varies depending on the degree of
assistance offered to the infant, particularly for those born at or
below 23 weeks of gestation. This was illustrated in a recent National
Institute of Child Health and Human Development (NICHHD) study that
included data from 24 hospitals and nearly 5000 infants [19].
In a multivariable analysis, differences in practice regarding the
initiation of active treatment for infants born below 24 weeks of
gestation accounted for three-quarters of the between-hospital variation
in neonatal survival and survival without impairment. These findings
emphasize the difficulty in determining the optimal management for
infants at the limit of viability. (See "Limit of viability", section on 'Impact of initial management'.)
ALLERGY, IMMUNOLOGY, AND RHEUMATOLOGY
Early use of azithromycin to prevent lower respiratory tract illness in preschool children (December 2015)
The potential utility of macrolides in the treatment of recurrent wheezing/asthma has been considered, given their anti-inflammatory properties and antimicrobial effects against Mycoplasma pneumonia and Chlamydia
pneumonia, although there is a paucity of literature supporting their
use in this setting. One multicenter trial examined whether the early
use of azithromycin prevented lower respiratory tract illness (LRTI) in
preschool children with a history of severe recurrent wheezing [20]. Treatment was initiated at the onset of respiratory illness in conjunction with signs/symptoms
that usually preceded the development of a severe LRTI specific to each
child. In this trial, 607 children were randomly assigned to oral
azithromycin or placebo for five days in addition to albuterol. The risk
of progressing to severe LRTI was significantly lower in the treatment
group compared with the control, although there was no difference in
urgent care utilization, emergency department visits, or
hospitalizations. Although this study provides some evidence for the
early use of azithromycin in specific patient populations, further study
is needed. (See "Treatment of recurrent virus-induced wheezing in young children", section on 'Antibiotics'.)
Updated guidelines for the diagnosis and management of primary immunodeficiency (November 2015)
A
revised “Practice parameter for the diagnosis and management of primary
immunodeficiency,” developed by the three national allergy and
immunology societies in the United States, has been published to aid allergy/immunology specialists and other practitioners in the recognition, diagnosis, and general management of these disorders [21]. Highlights
include screening and advanced laboratory tests for the different
components of immune function, characteristic clinical manifestations
and laboratory findings for a number of disorders, internet resources,
antibiotic prophylaxis, and indications for hematopoietic cell
transplantation or gene therapy. There are now more than 200 genetically
distinct disorders of immune function that are classified using the
system devised by the World Health Organization (WHO) and International
Union of Immunological Societies (IUIS). Consultation with an immunology
specialist with experience in diagnosing and managing primary
immunodeficiencies is recommended. Our approach is consistent with that
outlined in this practice parameter. (See "Approach to the child with recurrent infections" and "Laboratory evaluation of the immune system" and "Medical management of immunodeficiency".)
n-3 LCPUFA supplementation in pregnancy and allergies in offspring (November 2015)
It
has been hypothesized that maternal intake of long chain
polyunsaturated fatty acids (n-3 LCPUFA) during pregnancy may prevent
development of allergies in offspring. However, a recent systematic
review of randomized trials assessing the effect of n-3 LCPUFA
supplementation during pregnancy and/or
breastfeeding on allergy outcomes in offspring found supplementation did
not significantly reduce childhood allergic disease (food allergy,
atopic dermatitis, allergic rhinitis, asthma) at 36 months of age
compared with no treatment/placebo [22]. (See "Fish consumption during pregnancy", section on 'Other outcomes'.)
Auvi-Q and Allerject epinephrine autoinjectors recalled by manufacturer (October 2015)
A manufacturer's
recall was issued in October 2015 of all Auvi-Q
epinephrine autoinjectors in the United States, as well as all Allerject
devices in Canada, including both the 0.15 and 0.3 mg strengths, due to
potentially inaccurate dose delivery [23,24].
Patients should be provided with a prescription for an alternate
epinephrine device and return Auvi-Q and Allerject autoinjectors to
their pharmacy for replacement and instruction on how to use the new
device. Patients should only use Auvi-Q or Allerject if no other device
is available in a severe allergic reaction and then immediately contact
9-1-1 or emergency medical services. (See "Prescribing epinephrine for anaphylaxis self-treatment", section on 'Types of autoinjectors'.)
Antibiotic use and development of juvenile idiopathic arthritis (August 2015)
A
few studies have found a link between antibiotic use and the
development of juvenile idiopathic arthritis (JIA). In one of these
case-control studies, previous antibiotic prescriptions were compared in
152 children newly diagnosed with JIA and 1520 controls in the United
Kingdom [25].
As with a previous study, this study found that any use of antibiotics
was associated with a twofold increased risk of JIA. The risk was dose
dependent and was greatest for antibiotic exposures that occurred within
one year of diagnosis. The potential underlying mechanism is unknown,
but alteration of the intestinal microbiome with subsequent immune
dysregulation is postulated. Alternative explanations include the
possibility that these patients develop more frequent infections due to
some intrinsic abnormalities in the immune system that also predispose
them to JIA. (See "Juvenile idiopathic arthritis: Epidemiology and immunopathogenesis", section on 'Antibiotics'.)
Predictors of the need for repeat epinephrine doses in anaphylaxis (August 2015)
Epinephrine
is the first-line therapy for anaphylaxis, and retrospective studies
suggest that up to one-third of patients may require a second dose.
However, predictive factors for requiring more than one dose are not
well defined. In a prospective cohort study of over 500 patients (all
ages) treated for anaphylaxis in a tertiary care emergency
department, 14 percent of those requiring any epinephrine required more
than one dose [26].
Patients with a history of previous anaphylaxis, and those presenting
with flushing, diaphoresis, or dyspnea, were more likely to require
multiple doses of epinephrine to control symptoms. Anaphylaxis is an
inherently unpredictable disorder, but this study provides some insight
into predictors of a more complicated treatment course and may help
clinicians managing such patients. (See "Anaphylaxis: Rapid recognition and treatment", section on 'Dosing and administration'.)
Ease of use of different epinephrine autoinjectors for anaphylaxis (July 2015)
Epinephrine
autoinjectors can be life saving for patients with serious allergies,
but even with specific training, many people have trouble using the
various devices properly. A randomized trial of mothers of food-allergic
children, tested in simulated anaphylaxis scenarios, suggested that the
Auvi-Q device, a rectangular cassette that has audible instructions to
guide the user through the injection process, was easier to use than
non-audible pen devices [27]. When
prescribing an epinephrine autoinjector, ease of use, cost, the need
for multiple injectors, and patient facility with self-injection should
all be considered. (See "Prescribing epinephrine for anaphylaxis self-treatment", section on 'Ease of use'.)
Dedicator of cytokinesis 2 deficiency (June 2015)
Dedicator
of cytokinesis 2 (DOCK2) deficiency is a newly recognized combined
immunodeficiency (CID). Biallelic (homozygous or compound heterozygous)
mutations in the DOCK2 gene were identified through whole-exome
sequencing in a group of unrelated patients with early-onset invasive
bacterial and viral infections, lymphopenia, and defective T, B, and NK
cell responses [28]. DOCK2
deficiency results in impaired activation of RAC1 that leads to defects
in actin polymerization, lymphocyte proliferation and migration,
natural killer cell degranulation, and response to viral infections in
fibroblasts and peripheral blood mononuclear cells. Other CIDs that are
the result of defects in actin regulation include Wiskott-Aldrich
syndrome and DOCK8 deficiency. (See "Combined immunodeficiencies", section on 'Dedicator of cytokinesis 2 deficiency'.)
Low allergic cross-reactivity between penicillins and carbapenems (May 2015)
Carbapenems
(eg, imipenem, meropenem) share a common beta-lactam ring with
penicillins and hence the potential for allergic cross-reactivity,
and some drug information systems list penicillin allergy as a
contraindication to the use of carbapenems (figure 3).
In the largest study to date, 212 patients with allergy to penicillins,
confirmed by skin testing, were then tested with carbapenems [29].
All subjects were negative to carbapenem skin testing and tolerated
graded challenges to three different carbapenems. Based on this and
other series, the rate of reactivity to carbapenems in patients with
confirmed penicillin allergy is estimated at <1 percent. This
supports our current recommendations on administration of carbapenems to
patients reporting immediate-type penicillin allergy: Perform
penicillin skin testing when available. If negative, patients may safely
receive penicillins and carbapenems. If penicillin skin testing is
positive or not available, carbapenems may be administered via a graded
challenge. (See "Penicillin-allergic patients: Use of cephalosporins, carbapenems, and monobactams", section on 'Carbapenems'.)
CARDIOLOGY
Maternal hypertension and risk of congenital heart disease in offspring (November 2015)
Women
with chronic hypertension, either treated or untreated, may be at
increased risk of having offspring with congenital heart disease
(CHD) compared with normotensive women. In a recent systematic review
including 16 studies and five million subjects, the frequency of CHD in
offspring of hypertensive pregnant women who received or did not
receive treatment increased by 100 percent and 40 percent, respectively,
compared with normotensive pregnant women [30].
The magnitude of effect was generally similar across subtypes of CHD
and across the range of antihypertension therapies. These results should
be interpreted with caution, as neither a dose-response relationship
between maternal hypertension medication and CHDs nor some potentially
important characteristics of the population (eg, severity of
hypertension) could be ascertained. We suggest avoiding antihypertensive
therapy for mild hypertension in pregnancy as there is no clear
maternal or fetal benefit and it may be harmful. Severe hypertension
should be treated to reduce the risk of maternal stroke. (See "Management of hypertension in pregnant and postpartum women", section on 'Antihypertensive therapy'.)
Early cardiovascular disease in youth with depressive and bipolar disorders (October 2015)
The
American Heart Association recently proposed that major depression and
bipolar disorder in adolescents be positioned alongside other pediatric
diseases that are considered moderate risk conditions for early
cardiovascular disease (CVD), which include chronic inflammatory
diseases (eg, systemic lupus erythematosus), HIV infection, and
nephrotic syndrome [31].
There is growing evidence that major depression and bipolar disorder
are associated with accelerated atherosclerosis and early CVD. In
addition, traditional risk factors for CVD (eg, obesity, diabetes
mellitus, sedentary lifestyle, and smoking) are more prevalent in youth
with major depression and bipolar disorder. Although psychotropic
medication may contribute to the elevated risk of CVD, particularly in
youths with bipolar disorder, it appears that the association between
depression and CVD is independent of medication effects. Management of
youth with major depression and bipolar disorder should thus include
monitoring and management of other CVD risk factors, including body mass
index, blood pressure, lipids, and fasting glucose. (See "Diseases associated with atherosclerosis in childhood", section on 'Depressive and bipolar disorders'.)
DERMATOLOGY
Stevens-Johnson syndrome outbreak associated with M. pneumoniae (August 2015)
Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN)
is a rare, severe blistering mucocutaneous reaction, most commonly
triggered by medications, characterized by extensive necrosis and
detachment of the epidermis and mucosa. Mycoplasma pneumoniae and cytomegalovirus infections are the next most common trigger of SJS/TEN, particularly in children. Between September and November 2013, an outbreak of eight pediatric cases of M. pneumoniae-associated SJS/TEN was reported in Colorado, likely related to high levels of M. pneumoniae infection in the region [32].
All children had severe oropharyngeal mucositis; the conjunctiva was
involved in seven children and the genital mucosa in five. (See "Stevens-Johnson
syndrome and toxic epidermal necrolysis: Pathogenesis, clinical
manifestations, and diagnosis", section on 'Infection'.)
DEVELOPMENTAL AND BEHAVIORAL PROBLEMS
Stimulant medications for ADHD not associated with new onset or worsening tics in meta-analysis (October 2015)
New
onset and worsening of tics have been reported in children receiving
stimulants for attention deficit hyperactivity disorder (ADHD), and
stimulants are often avoided in these children if they have a personal
or family history of tics. However, in a meta-analysis of 22 randomized
trials of the efficacy of stimulants in the treatment of children
with ADHD, the risk of tics was similar in both the stimulant and
placebo groups (5.7 and 6.5 percent, respectively) [33]. For
children with ADHD in whom stimulants were discontinued because of new
or worsening tics, another course of stimulant therapy may be warranted,
particularly if ADHD symptoms are not as well controlled with
nonstimulant medications. (See "Pharmacology of drugs used to treat attention deficit hyperactivity disorder in children and adolescents", section on 'Tics'.)
Genetic testing in autism spectrum disorder (September 2015)
Genetic
testing is often performed in children with autism spectrum disorder
(ASD) to provide information about prognosis and recurrence. The
suggested evaluation has evolved with advances in molecular diagnostic
techniques. In a population-based study, the yield of genetic diagnosis
with whole-exome sequencing was similar to that with chromosomal
microarray (CMA): 8.4 and 9.3 percent, respectively; and 15.8 percent
when both tests were performed [34]. Genetic
diagnosis was achieved more often in children with higher levels of
dysmorphology, suggesting that severity of dysmorphology is predictive
of genetic abnormalities [35]. Pending
additional studies, we continue to suggest genetic testing by CMA and
DNA analysis for fragile X syndrome for all children with ASD, whether
or not they have dysmorphic features. (See "Autism spectrum disorder: Diagnosis", section on 'Genetic testing'.)
Course of ADHD during adulthood (June 2015)
While
it is well established that 40 to 60 percent of children with attention
deficit hyperactivity disorder (ADHD) go on to have significant
ADHD-related problems as adults, little is known about the course of the
disorder during adulthood. A recent, prospective follow-up study
reported on the persistence of ADHD in a clinical sample of 344
Brazilian outpatients [36].
Participants met DSM-IV criteria for ADHD during childhood and as
adults at the start of the study (mean age 34 years). Approximately
one-third of participants did not meet diagnostic criteria for the
disorder after an average of seven years, and 12 percent of the sample
met criteria for full remission. The persistence of ADHD was associated
with higher numbers of inattention and hyperactivity/impulsivity
symptoms, and with co-occurring oppositional defiant disorder and
social phobia. Despite expectations that adult ADHD might be
nonremitting, these findings suggest that some adults with the disorder
experience improvement over time. (See "Attention
deficit hyperactivity disorder in adults: Epidemiology, pathogenesis,
clinical features, course, assessment, and diagnosis", section on
'Course'.)
EMERGENCY MEDICINE
Metronome use during chest compressions in children (October 2015)
The
2010 American Heart Association and International Liaison Committee on
Resuscitation Cardiopulmonary Resuscitation guidelines emphasize the
importance of hard, fast chest compression at an optimal rate of 100
compressions per minute. Health care providers who use a metronome are
more likely to achieve this rate. In a crossover trial of 155 medical
personnel who performed compressions on a pediatric manikin with or
without a metronome, the mean percentage of compressions delivered at an
optimal rate was achieved more often when a metronome was used (72
versus 50 percent) [37]. The rescuers tended to perform compressions too fast when a metronome was not used. (See "Pediatric basic life support for healthcare providers", section on 'Chest compressions'.)
Lower mortality for children treated in pediatric trauma centers (October 2015)
In
a retrospective analysis of a national database of almost 176,000
pediatric trauma patients, the unadjusted mortality rate was lowest
among patients treated in pediatric trauma centers (0.6 percent)
compared with adult trauma centers (2.3 percent) and mixed trauma
centers (1.8 percent) [38].
After adjustment, children treated in adult or mixed trauma centers had
an estimated 57 and 45 percent increased risk of dying,
respectively, when compared with patients treated in pediatric trauma
centers (PTC). Because optimal outcomes occur when the critically
injured child is initially resuscitated and subsequently managed in a
PTC, it is preferable to provide care in such facilities from the
outset, whenever possible, or to arrange transfer to a PTC for ongoing
management. (See "Trauma management: Approach to the unstable child", section on 'Definitive care'.)
Contrast regimens for children requiring abdominal and pelvic computed tomography after blunt trauma (September 2015)
In
a multicenter, prospective observational study of over 5000 children
with blunt trauma undergoing abdominal and pelvic computed
tomography (CT) with intravenous (IV) contrast, of whom 1010 also
received oral contrast, the sensitivity for identifying intraabdominal
injury was not significantly different with or without oral contrast (99
versus 98 percent, respectively) [39].
Patients who received oral contrast had a significantly longer delay in
undergoing CT (median 12 minutes) compared with children who received
IV contrast alone. Thus, oral contrast does not improve detection of
intraabdominal injury in children but delays time to imaging. We suggest
that hemodynamically stable children undergoing CT of the abdomen and
pelvis after blunt trauma receive IV contrast alone rather than IV and
oral contrast. (See "Overview of blunt abdominal trauma in children", section on 'Use of contrast'.)
Timely administration of epinephrine improves survival following pediatric arrest (August 2015)
Epinephrine
is recommended during cardiopulmonary resuscitation for children with
asystole or pulseless electrical activity without ventricular
fibrillation or tachycardia. In a retrospective review of registry data
on 1558 children with inpatient arrest and a documented nonshockable
initial rhythm, adjusted survival to discharge occurred in up to 37
percent of patients who received epinephrine one minute or less after
arrest and decreased 5 percent for every additional minute delay in
epinephrine administration [40].
Survival with favorable neurologic outcome at discharge occurred in
approximately 16 percent of all patients and in adjusted analysis also
decreased 5 percent for every additional minute of delay in epinephrine
administration. Thus, timely administration of epinephrine is associated
with improved outcomes after pediatric arrests with nonshockable
cardiac rhythms. (See "Guidelines for pediatric advanced life support".)
Oxyhemoglobin desaturation during rapid sequence intubation in children (June 2015)
Timing
the laryngoscopy duration during a pediatric endotracheal intubation
attempt and discontinuing it if intubation is unsuccessful within a
specific time period (eg, 30 seconds) may prevent oxyhemoglobin
desaturation. In an observational study that used video review of 114
children undergoing rapid sequence intubation in a pediatric emergency
department, at least one episode of oxyhemoglobin desaturation (pulse
oximetry <90 percent) occurred in 33 percent of patients [41].
Oxyhemoglobin desaturation was more common in children two years of age
or younger compared with older children (59 versus 10 percent) and was
strongly associated with the duration of laryngoscopy; 82 percent of
patients experiencing desaturations had laryngoscopy durations of 30
seconds or longer. There was no association between the number of
intubation attempts and episodes of desaturation. (See "Emergency endotracheal intubation in children", section on 'During laryngoscopy/intubation'.)
ENDOCRINOLOGY
Enzyme replacement therapy for hypophosphatasia (November 2015)
Hypophosphatasia
is a rare, autosomal disease that is associated with low levels of
alkaline phosphatase in serum and bone and the development of
osteomalacia and severe periodontal disease. It may present in the
perinatal period, when it is lethal; in infancy, where rachitic
deformities develop by age six months; in childhood, with premature loss
of deciduous teeth, delayed walking, and waddling gait; or in
adulthood, where it is characterized by the presence of recurrent
metatarsal stress fractures and bone pain, and an increased incidence of
chondrocalcinosis. Historically, there have been few treatment options.
However, enzyme replacement therapy (asfotase alfa) for perinatal,
infantile, and juvenile-onset hypophosphatasia became available in
October 2015, based upon the results of open-label prospective studies
in 99 patients with perinatal, infantile, or juvenile-onset
hypophosphatasia, in whom enzyme replacement therapy was associated with
improved overall survival, ventilator-free survival, growth, and bone
mineralization compared with a historic cohort [42]. (See "Clinical manifestations, diagnosis, and treatment of osteomalacia", section on 'Other causes'.)
GASTROENTEROLOGY, HEPATOLOGY, AND NUTRITION
Oral recombinant H. pylori vaccine (October 2015)
In a randomized phase 3 trial, 4464 H. pylori uninfected children (ages 6 to 15 years) were assigned to a three-dose oral recombinant H. pylori vaccine or placebo [43]. At one year, the incidence of H. pylori infection was significantly lower in the vaccine group. Among patients who completed extended follow-up, H. pylori acquisition
continued to be lower in vaccinated as compared with unvaccinated
children, but protection levels were lower in the second and third year.
There were no serious adverse events related to the vaccine. Additional
studies with long-term follow-up are needed to validate these results.
(See "Pathophysiology of and immune response to Helicobacter pylori infection", section on 'Vaccination'.)
GENETICS AND PEDIATRIC METABOLISM
Down syndrome-specific growth charts (November 2015)
Down
syndrome (DS)-specific growth charts derived from a population of
patients in the United States (US) are now available and are consistent
with the more contemporary charts based upon data from European
populations [44].
These growth charts revealed that weight gain in children <3 years
of age has improved and stature in males has increased, compared with
growth chart data on DS from the 1960s. The DS-specific US growth
charts will most likely supplant the US Centers for Disease
Control (CDC) and World Health Organization (WHO) growth charts for
assessing growth and nutritional status in children with DS. The new
charts include weight-for-length and corresponding body mass index (BMI)
charts that are needed to adequately assess nutritional status,
although optimal weight-for-length and BMI levels for individuals with
DS are not yet established. (See "Down syndrome: Management", section on 'Growth' and "Down syndrome: Clinical features and diagnosis", section on 'Growth'.)
Down syndrome disintegrative disorder (September 2015)
It
is not clear if Down syndrome disintegrative disorder is one disorder
or several different disorders with similar presentations [45].
The etiology is not known, but autoimmunity is suspected. There are no
established diagnosis or treatment recommendations for this clinical
association, although some patients respond to psychiatric care. Further
research is needed in this area. (See "Down syndrome: Clinical features and diagnosis", section on 'Behavioral and psychiatric disorders'.)
Medical food supplements for organic acidemias (August 2015)
Patients
with organic acidemias such as methylmalonic acidemia (MMA) are treated
with a low-protein diet that is supplemented with an amino acid mixture
that excludes the problematic amino acids. However, excessive
consumption of this "medical food" in patients with MMA, while uncommon,
can result in increased leucine intake that causes depletion of the
essential amino acids valine and isoleucine [46].
These amino acid deficiencies are associated with poor growth outcomes.
Patients with cobalamin C (cblC) defects, which cause combined MMA and
homocystinuria, should be treated carefully with the medical food used
for MMA, since this medical food is devoid of methionine and is
relatively high in leucine content. Use of this medical food in patients
with cblC deficiency could potentially adversely affect brain growth
and development [47].
Patients with these disorders should have plasma amino acid analysis
performed on a regular basis to prevent these and other
complications. (See "Organic acidemias", section on 'Treatment'.)
HEMATOLOGY AND ONCOLOGY
Eltrombopag for chronic ITP in children (November 2015)
Approximately
10 to 20 percent of children who present with immune thrombocytopenia
(ITP) go on to have chronic ITP with ongoing bleeding risk. In adults
with refractory chronic ITP, thrombopoietin (TPO) receptor agonists
increase platelet counts and reduce bleeding events, although the effect
generally lasts only as long the drug is continued. A recent study
found similar effects in pediatric patients. In a multicenter,
randomized, double-blind trial of 92 children with chronic ITP, 40
percent of patients in the eltrombopag group achieved a sustained
response in their platelet count compared with 3 percent in the placebo
group [48].
Bleeding events occurred less frequently in the eltrombopag group (37
versus 55 percent). During the subsequent 24-week open-label treatment
period, 81 percent of patients achieved a response. The drug was well
tolerated and serious adverse events did not differ between the
treatment and placebo groups. Due to cost considerations and limited
pediatric experience with TPO receptor agonists in children, UpToDate
reserves these agents for children with chronic ITP who fail or are
ineligible for treatment with splenectomy and/or
rituximab and for those requiring a high platelet count for surgery
when this cannot be achieved with other therapies (eg, steroids,
intravenous immune globulin). (See "Immune thrombocytopenia (ITP) in children: Management of chronic disease", section on 'Thrombopoietin receptor agonists'.)
Gardos channel mutations in hereditary stomatocytosis (October 2015)
Hereditary
stomatocytosis (HSt) is a rare inherited disorder that presents with
hemolytic anemia and mouth-shaped red blood cells (RBCs) known as
stomatocytes. The causative genetic defect has been unclear in many
affected families. Recently, three groups reported several HSt kindreds
with mutations in the gene encoding the Gardos channel (KCNN4), a potassium channel in the RBC membrane [49-51].
This finding explains the anemia and suggests that one form of HSt is
essentially the same as another rare condition, stomatocytic hereditary
xerocytosis. Genetic testing is not yet widely available; at present
diagnosis is based on clinical features and RBC testing. (See "Stomatocytosis and xerocytosis", section on 'Gardos channel'.)
INFECTIOUS DISEASES AND IMMUNIZATIONS
Shortened interval for postvaccination serology in infants born to HBsAg-positive mothers (October 2015)
To
prevent transmission of hepatitis B infection, infants born to women
who are hepatitis B surface antigen (HBsAg)-positive should receive
hepatitis B immune globulin and the first dose of hepatitis B vaccine
within 12 hours of birth and complete the hepatitis B vaccine series at
age six months or soon thereafter. Postvaccination serology (HBsAg and
antibody to HBsAg) is necessary to see if postexposure prophylaxis was
successful (table 2). In agreement with updated recommendations from the Centers for Disease Control and Prevention [52], we
now obtain postvaccination serology at age 9 to 12 months (or one to
two months after the final dose) rather than at age 9 to 18 months as
previously recommended. The shortened interval permits earlier
revaccination of susceptible infants and may avoid unnecessary
revaccination of infants who responded appropriately but whose antibody
levels declined with time. (See "Hepatitis B virus immunization in infants, children, and adolescents", section on 'Postvaccination serology'.)
Influenza vaccination and influenza-associated pneumonia (October 2015)
Many
studies have demonstrated that influenza vaccination decreases the
incidence of laboratory-confirmed influenza infection, but few have
evaluated the effect on the serious complications of influenza. Recent
data suggest that vaccination is associated with a reduced risk of
influenza pneumonia. In a case-control study of adult and pediatric
patients hospitalized for community-acquired pneumonia (CAP), those with
laboratory-confirmed influenza-associated pneumonia had lower odds of
having received an influenza vaccine during the same influenza season
compared with those with CAP not associated with influenza [53]. The estimated vaccine effectiveness for preventing influenza-associated pneumonia was 57 percent. (See "Seasonal influenza vaccination in adults", section on 'Trivalent inactivated vaccines'.)
WHO recommendations on HIV treatment and prevention (October 2015)
In 2015, the World Health Organization (WHO) updated its guidelines
for the prevention and treatment of HIV infection to recommend
initiation of lifelong antiretroviral (ART) for all HIV-infected
patients, regardless of CD4 cell count or clinical stage [54]. This
recommendation was based, in part, on mounting evidence that the
clinical benefit of ART extends to those with very high CD4 cell counts
and data demonstrating a dramatic reduction in sexual HIV transmission
to uninfected partners with successful ART. The updated guidelines
also recommend pre-exposure prophylaxis (PrEP) with a
tenofovir-containing regimen as part of the HIV prevention strategy for
individuals at substantial risk of HIV infection (ie, those for whom the
predicted incidence of infection would be >3 per 100 person years).
(See "The
impact of antiretroviral therapy on morbidity and mortality of HIV
infection in resource-limited settings", section on 'Initiation of
antiretroviral therapy' and "Pre-exposure prophylaxis against HIV infection" and "Prevention
of mother-to-child HIV transmission in resource-limited settings",
section on 'Recommended antiretroviral management'.)
Influenza vaccine recommendations for 2015-2016 influenza season (August 2015)
In
August 2015, the Advisory Committee on Immunization Practices released
recommendations for the prevention and control of influenza during the
2015-2016 influenza season in the United States. As in previous seasons,
seasonal influenza vaccination is recommended for everyone ≥6 months of
age [55]. Changes for the 2015-2016 season include:
●Different influenza A H3N2 and influenza B (Yamagata lineage) antigens than were in the 2014-2015 vaccines
●A simplified dosing algorithm for children six months through eight years (algorithm 2)
●Availability of a quadrivalent intradermal vaccine for adults 18 through 64 years of age (table 3)
(See "Seasonal influenza in children: Prevention with vaccines", section on 'Schedule' and "Seasonal influenza vaccination in adults", section on 'Overview'.)
Repeat testing for women treated for trichomoniasis (July 2015)
The
risk of repeat infection following treatment for a sexually transmitted
infection (STI) is high. In the United States, reinfection with Trichomonas vaginalis
has been reported to occur in up to 17 percent of women following
treatment for an initial infection. The 2015 Centers for Disease Control
and Prevention (CDC) guidelines on the management of STIs recommend
that women treated for confirmed T. vaginalis infection undergo repeat testing within three months of treatment, regardless of partner treatment status [56].
Prior guidelines had only listed retesting as a consideration. The
preferred diagnostic test for repeat testing is a nucleic acid
amplification test (NAAT) on a vaginal swab, which can be performed as
soon as two weeks after treatment. Data are insufficient to support
retesting men. (See "Trichomoniasis", section on 'Follow-up'.)
Updated CDC guidelines on the management of sexually transmitted infections (June 2015)
The
US Centers for Disease Control and Prevention (CDC) updated its
guidelines on the management of sexually transmitted infections in June
2015 [57].
Major revisions include a lower threshold for the diagnosis of
urethritis based on microscopy of a urethral specimen, a new emphasis on
the role of Mycoplasma genitalium in persistent urethritis and cervicitis, preference for nucleic acid amplification-based testing for the diagnosis of Trichomonas vaginalis, and a recommendation to retest women after treatment for T. vaginalis
to evaluate for reinfection. New screening recommendations include
annual hepatitis C virus (HCV) testing for HIV-infected men who have sex
with men and T. vaginalis testing for HIV-infected women annually and when pregnant. (See "Urethritis in adult men", section on 'Diagnostic criteria' and "Mycoplasma genitalium infection in men and women", section on 'Nongonococcal urethritis' and "Trichomoniasis", section on 'Follow-up' and "Primary care of the HIV-infected adult", section on 'Sexually transmitted infections'.)
Prevalence and clinical presentation of Borrelia miyamotoi infection (June 2015)
Borrelia miyamotoi is an emerging zoonotic pathogen that is transmitted by the same genus of ticks (eg, Ixodes scapularis, Ixodes pacificus) that transmits Borrelia burgdorferi (the agent of Lyme disease), Anaplasma phagocytophilum, and Babesia species. In one case series, B. miyamotoi was
identified using polymerase chain reaction (PCR) in approximately 1
percent of specimens from 11,515 patients in the northeastern United
States who presented with an acute febrile episode from April through
November in 2013 and 2014 [58]. Clinical information was available for 51 patients with B. miyamotoi infection; the majority had marked headache, myalgia, arthralgia, malaise, and/or
fatigue, and 24 percent were hospitalized. Diagnostic testing is not
widely available, but doxycycline, which is used to treat many other
tick-borne infections, is also effective against B. miyamotoi. (See "Borrelia miyamotoi infection", section on 'Clinical manifestations'.)
US ACIP recommendations for serogroup B meningococcal vaccination (June 2015)
In
late 2014 and early 2015, the US Food and Drug Administration approved
two serogroup B meningococcal vaccines (Trumenba, MenB-FHbp and Bexsero,
MenB-4C). In June 2015, the Advisory Committee on Immunization
Practices (ACIP) issued recommendations for serogroup B meningococcal
vaccine for high-risk individuals aged 10 years or older; these include
individuals with persistent complement component deficiencies,
individuals with anatomic or functional asplenia, microbiologists
routinely exposed to N. meningitidis isolates, and individuals at increased risk because of a serogroup B meningococcal disease outbreak [59]. These indications overlap with those for the quadrivalent meningococcal conjugate vaccine and are summarized in the table (table 4).
Among patients with none of the above risk factors, the ACIP advises
discussion between doctors and patients regarding vaccination against
serogroup B meningococcus; routine vaccination has not been recommended [60]. (See "Meningococcal vaccines", section on 'Use in United States'.)
Antimicrobial-resistant Shigella infections in the United States (June 2015)
Antimicrobial
resistance in Shigella is an increasing problem in the United States.
Fluoroquinolones are typically the antibiotic class of choice in adults,
and azithromycin is often used if fluoroquinolone resistance is
suspected or documented. Clusters of ciprofloxacin-resistant cases,
likely introduced by international travelers with subsequent domestic
spread, have been reported throughout the country, and isolates with
decreased susceptibility to azithromycin have caused outbreaks and
sporadic cases, predominantly among men who have sex with men (MSM) [61,62].
Scattered infections with extremely drug-resistant isolates that are
ciprofloxacin-resistant and have decreased susceptibility to
azithromycin have also been reported [63].
These reports highlight the importance of obtaining susceptibility
testing to ensure adequate efficacy of the chosen antimicrobial when
managing shigellosis and emphasizing prevention measures, primarily
hygiene practices around food preparation or consumption and oral or
anal sex. (See "Shigella infection: Treatment and prevention in adults", section on 'Antimicrobial resistance' and "Shigella infection: Treatment and prevention in children", section on 'Antibiotic resistance'.)
NEUROLOGY
New ILAE definition of status epilepticus (November 2015)
The
International League Against Epilepsy (ILAE) has published a revised
definition of status epilepticus, which now incorporates two operational
dimensions, t1 and t2 [64]. Specifically, status epilepticus is defined as:
●A
condition resulting from either the failure of the mechanisms
responsible for seizure termination or from the initiation of mechanisms
which lead to abnormally prolonged seizures (after time point t1); and
●A
condition that can have long-term consequences (after time point t2),
including neuronal death, neuronal injury, and alteration of neuronal
networks, depending on the type and duration of seizures.
For
generalized convulsive status epilepticus (GCSE), the ILAE
definition specifies a duration of five minutes for t1 and 30 minutes
for t2. The five-minute window for GCSE is consistent with our previous
recommendations for initiating urgent intervention to control
seizures. (See "Convulsive status epilepticus in adults: Classification, clinical features, and diagnosis", section on 'Definition' and "Clinical features and complications of status epilepticus in children", section on 'Definition'.)
PULMONOLOGY
Lumacaftor-ivacaftor for patients with cystic fibrosis and homozygous for the F508del mutation (August 2015)
Lumacaftor-ivacaftor
is a combination of two cystic fibrosis transmembrane conductance
regulator (CFTR) modulators that was approved by the US Food and Drug
Administration in July 2015. The approval was based on two randomized
trials with 1100 homozygous F508del subjects ages 12 years and older [65].
Compared with placebo, the groups receiving lumacaftor-ivacaftor for 24
weeks had small but statistically significant improvements in percent
predicted FEV1 and body mass index (BMI), and reduced frequency
of pulmonary exacerbations. Adverse effects included chest discomfort
and dyspnea and were more common in subjects with worse baseline lung
function. The improvement in absolute FEV1 from baseline compared with
placebo (2.6 to 4 percentage points) is similar in magnitude to that
achieved by treatments with inhaled dornase alfa or tobramycin. We
suggest use of lumacaftor-ivacaftor for F508del homozygotes because it
has modest short-term benefits and is tolerated by most patients.
However, the expense of the drug and drug-drug interactions should be
considered when deciding on its use. (See "Cystic fibrosis: Overview of the treatment of lung disease", section on 'Efficacy'.)
Outcomes of infants with inconclusive newborn screening for cystic fibrosis (July 2015)
CFTR-related
metabolic syndrome (CRMS) describes infants with an equivocal diagnosis
following newborn screening for cystic fibrosis (CF). These infants
usually have elevated levels of immunoreactive trypsinogen, but
inconclusive results of subsequent sweat and DNA testing. The
natural history of infants with CRMS is unclear. Now, a small study of
infants with an initial diagnosis of CRMS reports that 48 percent were
later diagnosed with CF, most within the first year of life [66]. Affected
individuals had a somewhat milder CF phenotype compared with infants
who were diagnosed with CF by newborn screening. These findings
highlight the importance of longitudinal clinical and laboratory
follow-up of infants with CRMS. (See "Cystic fibrosis: Clinical manifestations and diagnosis", section on 'CFTR-related metabolic syndrome'.)
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