Discussion: Diagnosis Genetic Disorders
Discussion: Diagnosis Genetic Disorders
Discussion: Diagnosis and Management of Respiratory, Cardiovascular, and Genetic Disorders Case Studies 1–3
Respiratory disorders such as pneumonia and asthma are among the leading causes of hospitalization in pediatric patients (U.S. Department of Health and Human Services, 2011). With such severe implications associated with many respiratory disorders, advanced practice nurses must be able to quickly identify symptoms, diagnose patients, and recommend appropriate treatment. For this Discussion, consider potential diagnoses and treatments for the patients in the following three case studies.
Case Study 1:
A 14-month-old female presents with a 4-day history of nasal congestion and congested cough. This morning, the mother noted that her daughter was breathing quickly and “it sounds like she has rice cereal popping in her throat.” Oral intake is decreased. Physical examination reveals the following: respiratory rate is 58, lung sounds are diminished in the bases, she has pronounced intercostal and subcostal retractions, expiratory wheezes are heard in all lung fields, and her tympanic membranes are normal. There is moderate, thick, clear rhinorrhea and postnasal drip. Her capillary refill is less than 3 seconds, and she is alert and smiling. Her RSV rapid antigen test is positive.
Case Study 2:
Brian is a 14-year-old known asthmatic with a 2-day history of worsening cough and shortness of breath. He reports using a short-acting beta agonist every 3 hours over the previous 24 hours. He has a long-acting inhaled corticosteroid, but the prescription ran out, and he forgot to get it refilled. He says he came today because he woke up at 2 a.m. coughing and couldn’t stop, thus preventing him from going back to sleep. Over-the-counter cough suppressants don’t help. He denies cigarette smoking, but his clothing smells like smoke. His respiratory rate is 18 and he has prolonged expiration and expiratory wheezes in all lung fields. There are no signs of dyspnea. All other exam findings are normal.
Case Study 3:
A father presents his 9-year-old with a 3-day history of cough. Dad states that his son is coughing up yellow mucus. The boy is afebrile and is sleeping through the night, but the father’s sleep is disturbed listening to his son coughing. Dad says he thinks his son has bronchitis and is requesting treatment. Physical examination reveals the following: respiratory rate is 18, lungs are clear to auscultation, patient is able to take deep breaths without coughing, there is no cervical adenopathy, nasal turbinates are slightly enlarged, and there is moderate clear rhinorrhea.
Case Studies 4–6
Assessing, diagnosing, and treating pediatric patients for many cardiovascular and genetic disorders can be challenging. As an advanced practice nurse who facilitates care for patients presenting with these types of disorders, you must be familiar with current evidence-based clinical guidelines. Because of the clinical implications, you have to know when to treat patients with these disorders and when to refer them for specialized care. In this Discussion, you examine the following case studies and consider appropriate treatment and management plans.
Case Study 4:
Miguel is a 15-year-old male who presents for a sports physical. He is a healthy adolescent with no complaints. He plays basketball. He is 6 feet 5 inches tall and weighs 198 pounds. You note long arms and long thin fingers. He has joint laxity in his wrists, shoulders, and elbows.
Case Study 5:
Trina is a 9-year-old female who weighs 110 pounds. Vital signs are as follows: BP 122/79, P 98, R 20. Her mother reports she is a picky eater and refuses to eat fruits and vegetables. Her physical activity includes soccer practice for 1 hour a week with one game each weekend from September through November. Family history is negative for myocardial infarction, but both parents take medication for dyslipidemia.
Case Study 6:
You see a 2-month-old for a well-child visit. She is breastfed and nurses every 2 to 3 hours during the day, but her mother reports she is not nursing as vigorously as before. She sleeps one 4-hour block at night. Birth weight was 7 pounds 5 ounces. Weight gain over the last 2 weeks reveals gain of 5 ounces per week. Physical examination reveals the following: HEENT exam is benign, lung sounds are clear, a new III/VI systolic ejection murmur is noted along the left lower sternal border, cap refill is brisk, skin is pink and moist, and abdominal exam is benign.
- Review “Respiratory Disorders,” “Cardiovascular Disorders,” and “Genetic Disorders” in the Burns et al. text.
- Review and select one of the six provided case studies. Analyze the patient information.
- Consider a differential diagnosis for the patient in the case study you selected. Think about the most likely diagnosis for the patient.
- Think about a treatment and management plan for the patient. Be sure to consider appropriate dosages for any recommended pharmacologic and/or non-pharmacologic treatments.
- Consider strategies for educating patients and families on the treatment and management of the respiratory disorder.
By Day 3
Post an explanation of the differential diagnosis for the patient in the case study you selected. Explain which is the most likely diagnosis for the patient and why. Include an explanation of unique characteristics of the disorder you identified as the primary diagnosis. Then, explain a treatment and management plan for the patient, including appropriate dosages for any recommended treatments. Finally, explain strategies for educating patients and families on the treatment and management of the respiratory, cardiovascular, and/or genetic disorder.
CLINICAL PRACTICE GUIDELINE
Clinical Practice Guideline: The Diagnosis, Management, and Prevention of Bronchiolitis
abstract This guideline is a revision of the clinical practice guideline, “Diagnosis and Management of Bronchiolitis,” published by the American Academy of Pediatrics in 2006. The guideline applies to children from 1 through 23 months of age. Other exclusions are noted. Each key action state- ment indicates level of evidence, benefit-harm relationship, and level of recommendation. Key action statements are as follows: Pediatrics 2014;134:e1474–e1502
1a. Clinicians should diagnose bronchiolitis and assess disease se- verity on the basis of history and physical examination (Evidence Quality: B; Recommendation Strength: Strong Recommendation).
1b. Clinicians should assess risk factors for severe disease, such as age less than 12 weeks, a history of prematurity, underlying car- diopulmonary disease, or immunodeficiency, when making decisions about evaluation and management of children with bronchiolitis (Evidence Quality: B; Recommendation Strength: Moderate Rec- ommendation).
1c. When clinicians diagnose bronchiolitis on the basis of history and physical examination, radiographic or laboratory studies should not be obtained routinely (Evidence Quality: B; Recommendation Strength: Moderate Recommendation).
2. Clinicians should not administer albuterol (or salbutamol) to in- fants and children with a diagnosis of bronchiolitis (Evidence Qual- ity: B; Recommendation Strength: Strong Recommendation).
3. Clinicians should not administer epinephrine to infants and children with a diagnosis of bronchiolitis (Evidence Quality: B; Recommen- dation Strength: Strong Recommendation).
4a. Nebulized hypertonic saline should not be administered to in- fants with a diagnosis of bronchiolitis in the emergency depart- ment (Evidence Quality: B; Recommendation Strength: Moderate Recommendation).
4b. Clinicians may administer nebulized hypertonic saline to infants and children hospitalized for bronchiolitis (Evidence Quality: B; Recommendation Strength: Weak Recommendation [based on ran- domized controlled trials with inconsistent findings]).
Shawn L. Ralston, MD, FAAP, Allan S. Lieberthal, MD, FAAP, H. Cody Meissner, MD, FAAP, Brian K. Alverson, MD, FAAP, Jill E. Baley, MD, FAAP, Anne M. Gadomski, MD, MPH, FAAP, David W. Johnson, MD, FAAP, Michael J. Light, MD, FAAP, Nizar F. Maraqa, MD, FAAP, Eneida A. Mendonca, MD, PhD, FAAP, FACMI, Kieran J. Phelan, MD, MSc, Joseph J. Zorc, MD, MSCE, FAAP, Danette Stanko-Lopp, MA, MPH, Mark A. Brown, MD, Ian Nathanson, MD, FAAP, Elizabeth Rosenblum, MD, Stephen Sayles III, MD, FACEP, and Sinsi Hernandez-Cancio, JD
KEY WORDS bronchiolitis, infants, children, respiratory syncytial virus, evidence-based, guideline
ABBREVIATIONS AAP—American Academy of Pediatrics AOM—acute otitis media CI—confidence interval ED—emergency department KAS—Key Action Statement LOS—length of stay MD—mean difference PCR—polymerase chain reaction RSV—respiratory syncytial virus SBI—serious bacterial infection
This document is copyrighted and is property of the American Academy of Pediatrics and its Board of Directors. All authors have filed conflict of interest statements with the American Academy of Pediatrics. Any conflicts have been resolved through a process approved by the Board of Directors. The American Academy of Pediatrics has neither solicited nor accepted any commercial involvement in the development of the content of this publication.
The recommendations in this report do not indicate an exclusive course of treatment or serve as a standard ofmedical care. Variations, taking into account individual circumstances, may be appropriate.
All clinical practice guidelines from the American Academy of Pediatrics automatically expire 5 years after publication unless reaffirmed, revised, or retired at or before that time.
Dedicated to the memory of Dr Caroline Breese Hall.
PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, 1098-4275).
Copyright © 2014 by the American Academy of Pediatrics
e1474 FROM THE AMERICAN ACADEMY OF PEDIATRICS
Guidance for the Clinician in Rendering Pediatric Care
by guest on August 26, 2015pediatrics.aappublications.orgDownloaded from
5. Clinicians should not administer systemic corticosteroids to infants with a diagnosis of bronchiolitis in any setting (Evidence Quality: A; Rec- ommendation Strength: Strong Rec- ommendation).
6a. Clinicians may choose not to ad- minister supplemental oxygen if the oxyhemoglobin saturation ex- ceeds 90% in infants and children with a diagnosis of bronchiolitis (Evidence Quality: D; Recommen- dation Strength: Weak Recommen- dation [based on low level evidence and reasoning from first princi- ples]).
6b. Clinicians may choose not to use continuous pulse oximetry for in- fants and children with a diagnosis of bronchiolitis (Evidence Quality: D; Recommendation Strength: Weak Recommendation [based on low- level evidence and reasoning from first principles]).
7. Clinicians should not use chest physiotherapy for infants and chil- dren with a diagnosis of bron- chiolitis (Evidence Quality: B; Recommendation Strength: Mod- erate Recommendation).
8. Clinicians should not administer antibacterial medications to in- fants and children with a diagno- sis of bronchiolitis unless there is a concomitant bacterial infec- tion, or a strong suspicion of one (Evidence Quality: B; Recommen- dation Strength: Strong Recom- mendation).
9. Clinicians should administer naso- gastric or intravenous fluids for infants with a diagnosis of bron- chiolitis who cannot maintain hy- dration orally (Evidence Quality: X; Recommendation Strength: Strong Recommendation).
10a. Clinicians should not administer palivizumab to otherwise healthy infants with a gestational age of
29 weeks, 0 days or greater (Evidence Quality: B; Recom- mendation Strength: Strong Recommendation).
10b. Clinicians should administer palivizumab during the first year of life to infants with he- modynamically significant heart disease or chronic lung disease of prematurity defined as pre- term infants<32 weeks 0 days’ gestation who require >21% oxygen for at least the first 28 days of life (Evidence Quality: B; Recommendation Strength: Moderate Recommendation).
10c. Clinicians should administer a maximum 5 monthly doses (15 mg/kg/dose) of palivizumab during the respiratory syncytial virus season to infants who qualify for palivizumab in the first year of life (Evidence Quality: B; Recommendation Strength: Moderate Recommendation).
11a. All people should disinfect hands before and after direct contact with patients, after contact with inanimate objects in the direct vicinity of the patient, and after removing gloves (Evidence Qual- ity: B; Recommendation Strength: Strong Recommendation).
11b. All people should use alcohol- based rubs for hand decontam- ination when caring for children with bronchiolitis. When alcohol- based rubs are not available, individuals should wash their hands with soap and water (Evidence Quality: B; Recom- mendation Strength: Strong Recommendation).
12a. Clinicians should inquire about the exposure of the infant or child to tobacco smoke when assessing infants and chil- dren for bronchiolitis (Evidence Quality: C; Recommendation Strength: Moderate Recom- mendation).
12b. Clinicians should counsel care- givers about exposing the in- fant or child to environmental tobacco smoke and smoking cessation when assessing a child for bronchiolitis (Evidence Quality: B; Recommendation Strength: Strong).
13. Clinicians should encourage ex- clusive breastfeeding for at least 6 months to decrease the mor- bidity of respiratory infections. (Evidence Quality: B; Recommen- dation Strength: Moderate Rec- ommendation).
14. Clinicians and nurses should ed- ucate personnel and family mem- bers on evidence-based diagnosis, treatment, and prevention in bron- chiolitis. (Evidence Quality: C; obser- vational studies; Recommendation Strength: Moderate Recommenda- tion).
In October 2006, the American Acad- emy of Pediatrics (AAP) published the clinical practice guideline “Diagnosis and Management of Bronchiolitis.”1
The guideline offered recommendations ranked according to level of evidence and the benefit-harm relationship. Since completion of the original evidence re- view in July 2004, a significant body of literature on bronchiolitis has been published. This update of the 2006 AAP bronchiolitis guideline evaluates pub- lished evidence, including that used in the 2006 guideline as well as evidence published since 2004. Key action state- ments (KASs) based on that evidence are provided.
The goal of this guideline is to provide an evidence-based approach to the di- agnosis, management, and prevention of bronchiolitis in children from 1 month through 23 months of age. The guideline is intended for pediatricians, family physicians, emergency medicine spe- cialists, hospitalists, nurse practitioners,
PEDIATRICS Volume 134, Number 5, November 2014 e1475
FROM THE AMERICAN ACADEMY OF PEDIATRICS
by guest on August 26, 2015pediatrics.aappublications.orgDownloaded from
and physician assistants who care for these children. The guideline does not apply to children with immunodeficien- cies, including those with HIV infection or recipients of solid organ or hema- topoietic stem cell transplants. Children with underlying respiratory illnesses, such as recurrent wheezing, chronic neonatal lung disease (also known as bronchopulmonary dysplasia), neuro- muscular disease, or cystic fibrosis and those with hemodynamically significant congenital heart disease are excluded from the sections on management un- less otherwise noted but are included in the discussion of prevention. This guide- line will not address long-term sequelae of bronchiolitis, such as recurrent wheezing or risk of asthma, which is a field with a large and distinct lit- erature.
Bronchiolitis is a disorder commonly caused by viral lower respiratory tract infection in infants. Bronchiolitis is characterized by acute inflammation, edema, and necrosis of epithelial cells lining small airways, and increased mucus production. Signs and symp- toms typically begin with rhinitis and cough, which may progress to tachy- pnea, wheezing, rales, use of accessory muscles, and/or nasal flaring.2
Many viruses that infect the respiratory system cause a similar constellation of signs and symptoms. The most com- mon etiology of bronchiolitis is re- spiratory syncytial virus (RSV), with the highest incidence of infection occurring between December and March in North America; however, regional variations occur3 (Fig 1).4 Ninety percent of chil- dren are infected with RSV in the first 2 years of life,5 and up to 40% will experience lower respiratory tract in- fection during the initial infection.6,7
Infection with RSV does not grant per- manent or long-term immunity, with reinfections common throughout life.8
Other viruses that cause bronchiolitis include human rhinovirus, human meta-
pneumovirus, influenza, adenovirus, coronavirus, human, and parainflu- enza viruses. In a study of inpatients and outpatients with bronchiolitis,9
76% of patients had RSV, 39% had human rhinovirus, 10% had influenza, 2% had coronavirus, 3% had human metapneumovirus, and 1% had para- influenza viruses (some patients had coinfections, so the total is greater than 100%).
Bronchiolitis is themost common cause of hospitalization among infants during the first 12 months of life. Approximately 100 000 bronchiolitis admissions occur annually in the United States at an estimated cost of $1.73 billion.10 One prospective, population-based study sponsored by the Centers for Disease Control and Prevention reported the
average RSV hospitalization rate was 5.2 per 1000 children younger than 24 months of age during the 5-year pe- riod between 2000 and 2005.11 The highest age-specific rate of RSV hos- pitalization occurred among infants between 30 days and 60 days of age (25.9 per 1000 children). For preterm infants (<37 weeks’ gestation), the RSV hospitalization rate was 4.6 per 1000 children, a number similar to the RSV hospitalization rate for term infants of 5.2 per 1000. Infants born at <30 weeks’ gestation had the highest hospitalization rate at 18.7 children per 1000, although the small number of infants born before 30 weeks’ gestation make this number unreliable. Other studies indicate the RSV hospitalization rate in extremely
FIGURE 1 RSV season by US regions. Centers for Disease Control and Prevention. RSV activity—United States, July 2011–Jan 2013. MMWR Morb Mortal Wkly Rep. 2013;62(8):141–144.
e1476 FROM THE AMERICAN ACADEMY OF PEDIATRICS by guest on August 26, 2015pediatrics.aappublications.orgDownloaded from
preterm infants is similar to that of term infants.12,13
In June 2013, the AAP convened a new subcommittee to review and revise the 2006 bronchiolitis guideline. The sub- committee included primary care physi- cians, including general pediatricians, a family physician, and pediatric sub- specialists, including hospitalists, pul- monologists, emergency physicians, a neonatologist, and pediatric infectious disease physicians. The subcommit- tee also included an epidemiologist trained in systematic reviews, a guide- line methodologist/informatician, and a parent representative. All panel mem- bers reviewed the AAP Policy on Conflict of Interest and Voluntary Disclosure and were given an opportunity to declare any potential conflicts. Any conflicts can be found in the author listing at the end of this guideline. All funding was provided by the AAP, with travel assistance from the American Academy of Family Phy- sicians, the American College of Chest Physicians, the American Thoracic Society, and the American College of Emergency Physicians for their liaisons.
The evidence search and review included electronic database searches in The Cochrane Library, Medline via Ovid, and CINAHL via EBSCO. The search strategy is shown in the Appendix. Re- lated article searches were conducted in PubMed. The bibliographies of arti- cles identified by database searches were also reviewed by 1 of 4 members of the committee, and references iden- tified in this manner were added to the review. Articles included in the 2003 evidence report on bronchiolitis in preparation of the AAP 2006 guide- line2 also were reviewed. In addition, the committee reviewed articles pub- lished after completion of the sys- tematic review for these updated guidelines. The current literature re-
view encompasses the period from 2004 through May 2014.
The evidence-based approach to guide- line development requires that the evi- dence in support of a policy be identified, appraised, and summarized and that an explicit link between evidence and rec- ommendations be defined. Evidence- based recommendations reflect the quality of evidence and the balance of benefit and harm that is anticipated when the recommendation is followed. The AAP policy statement “Classify- ing Recommendations for Clinical Practice”14 was followed in designat- ing levels of recommendation (Fig 2; Table 1).
A draft version of this clinical practice guideline underwent extensive peer review by committees, councils, and sections within AAP; the American Thoracic Society, American College of Chest Physicians, American Academy
of Family Physicians, and American College of Emergency Physicians; other outside organizations; and other in- dividuals identified by the subcom- mittee as experts in the field. The resulting comments were reviewed by the subcommittee and, when ap- propriate, incorporated into the guide- line.
This clinical practice guideline is not intended as a sole source of guidance in the management of children with bronchiolitis. Rather, it is intended to assist clinicians in decision-making. It is not intended to replace clinical judgment or establish a protocol for the care of all children with bronchi- olitis. These recommendations may not provide the only appropriate approach to the management of children with bronchiolitis.
All AAP guidelines are reviewed every 5 years.
FIGURE 2 Integrating evidence quality appraisal with an assessment of the anticipated balance between benefits and harms leads to designation of a policy as a strong recommendation, moderate recommendation, or weak recommendation.
PEDIATRICS Volume 134, Number 5, November 2014 e1477
FROM THE AMERICAN ACADEMY OF PEDIATRICS
by guest on August 26, 2015pediatrics.aappublications.orgDownloaded from
Key Action Statement 1a
Clinicians should diagnose bronchi- olitis and assess disease severity on the basis of history and physical examination (Evidence Quality: B; Recommendation Strength: Strong Recommendation).
Action Statement Profile KAS 1a
Key Action Statement 1b
Clinicians should assess risk fac- tors for severe disease, such as age <12 weeks, a history of pre- maturity, underlying cardiopulmo- nary disease, or immunodeficiency, when making decisions about eval-
uation and management of children with bronchiolitis (Evidence Quality: B; Recommendation Strength: Mod- erate Recommendation).
Action Statement Profile KAS 1b
Key Action Statement 1c
When clinicians diagnose bronchi- olitis on the basis of history and physical examination, radiographic or laboratory studies should not be obtained routinely (Evidence Qual- ity: B; Recommendation Strength: Moderate Recommendation).