Aquifer Case Study – Developmental Evaluation and Screening

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Start reviewing and responding to the postings of your classmates as early in the week as possible. Respond to at least two of your classmates’ initial postings. Participate in the discussion by asking a question, providing a statement of clarification, providing a point of view with a rationale, challenging an aspect of the discussion, or indicating a relationship between two or more lines of reasoning in the discussion. Cite sources in your responses to other classmates. Complete your participation for this assignment by the end of the week.

For this assignment, you will complete a Aquifer case study based on the course objectives and weekly content. Aquifer cases emphasize core learning objectives for an evidence-based primary care curriculum. Throughout your nurse practitioner program, you will use the Aquifer case studies to promote the development of clinical reasoning through the use of ongoing assessments and diagnostic skills and to develop patient care plans that are grounded in the latest clinical guidelines and evidence-based practice.

The Aquifer assignments are highly interactive and a dynamic way to enhance your learning. Material from the Aquifer cases may be present in the quizzes, the midterm exam, and the final exam.
Click here for information on how to access and navigate Aquifer.
This week, complete the Aquifer Case titled Pediatrics 02: Infant female well-child visits (2, 6, and 9 months).

To Access the Assigned Case: Click on Aquifer Family Medicine then under ’Cases’ type Pediatrics in the search bar and the Pediatrics cases will appear.

Apply information from the Aquifer Case Study to answer the following questions:

Discuss the history that you would take on this child in preparation for the well-child visit. Include questions regarding her growth and development that are appropriate for her age.

Describe the developmental tool to be used for Asia, its reliability and validity and how Asia scored developmentally on this tool. Is she developmentally appropriate for her age?

What immunizations will Asia be given at this visit; what is the patient education and follow-up?

INTRODUCTION – Aquifer Case Study – Developmental Evaluation and Screening

TEACHING

Your first patient in pediatric clinic is Asia, a 2-month-old little girl who is brought to the clinic by her mother, Karen Foster, for a checkup and shots. This is her first visit to this clinic.

As part of your orientation, your preceptor, Dr. Clark, takes a few minutes to remind you about the components of a well-child visit:

TEACHING POINT

Components of a Well-child Visit

Interval History

Ask if there have been any illnesses or problems since the previous visit.
If this is the first visit, obtain a detailed birth history.
Using the available medical records, review any visit notes, hospitalizations, lab results, and radiology reports since the last visit.

Development

May be assessed using one of several developmental screening tests (e.g., the Parents’ Evaluation of Developmental Status [PEDS], or Ages and Stages Questionnaire [ASQ]).
The American Academy of Pediatrics (AAP) recommends developmental screening with a validated tool at the 9-month, 18-month, and 30-month checkups.
Specific autism screening is recommended at the 18-month and 24-month visits.
Developmental surveillance is recommended at every health maintenance visit where a validated developmental screening tool is not used.
Tests may involve parental reports and/or examination in the office.

Growth

Growth is best assessed using a growth chart and analyzing the data over time.

Diet History

Inquire about feeding practices: breast or bottle (in infants), or types and frequency of food and drink (in older children), and any feeding difficulties the parent has noted.

Family History

Obtaining a family health history is an important component of the well- child visit that can provide information on genetic, behavioral, and environmental vulnerabilities.
A family health history should be obtained at the initial visit and updated yearly.

Social History

Ask who lives in the household, who the primary caretakers are, and who takes care of the child when the parents are at work or school.
Also assess for environmental risks (e.g., smokers, guns in the home, lead exposure).

Physical Exam

Anticipatory Guidance

Each visit includes anticipatory guidance, which is your chance to help the parents anticipate the child’s development and nutritional needs and to advise them regarding the child’s safety.

Immunizations and lab work

Age-specific recommended immunizations and screening labs are performed at the conclusion of the visit.

Aquifer Case Study – Developmental Evaluation and Screening

PERINATAL HISTORY

HISTORY

You ask Mrs. Foster how Asia has been doing. She replies that everything has been “going great.” Because this is the baby’s first visit, you obtain a birth history:

“Were there any complications or infections during your pregnancy? Did you take any medications? Did you use any drugs or alcohol?”

“I had no problems except for a urine infection at the beginning of the pregnancy. It was treated with an antibiotic. Other than that, I didn’t use any medications and I didn’t drink alcohol, and I never have used any drugs.”

“Was your doctor concerned with your prenatal screening labs for HIV, syphillis, hepatitis B, or group B strep?”

“No, not that I can remember.”

You glance at Asia’s chart and confirm the following about her birth:

Delivery date: Two days post due date

Birth weight: 7 lbs, 11 oz (3.48 kg)

Perinatal course:

No complications in the nursery.
Received hepatitis B vaccine (recorded in state immunization registry)
No jaundice.
Discharged two days post birth.

“Do you remember them telling you at the hospital that Asia passed her hearing test?”

“Yes, she did. I remember because someone else I met in the hospital had a baby that did not pass and they were deciding where the baby would go for definitive testing. They told her not to worry too much because the nursery test was just a screening test and can have false results, and more intensive testing was needed.”

SOCIAL, FAMILY, AND DIET HISTORY

HISTORY

Dr. Clark reminded you that social history and diet are very important in a child’s overall growth and development, so you take a detailed history in these areas.

“Who lives at home with Asia? Does she go to daycare?”

“Her dad, 2-year-old brother, and I live with her at home. She doesn’t go to daycare yet, but I’m going back to work in a month, so I’ll have to put her in the nursery then.”

Do you have any concerns about conditions or diseases that run in your family?”

“Asia’s father has asthma and her brother gets speech therapy.”

“Is Asia breastfeeding or bottle feeding?”

“I give her formula. She takes about 4 oz every three to four hours. I mix one can of concentrate with one can of water. She seems to be doing fine with it, but is there a particular formula that you would recommend?”

(See below for information that would help you respond to mother’s concerns about formula.)

“How many diapers do you change in a day?”

“She wets about eight diapers a day. She has one or two greenish-brown stools every day.”

Aquifer Case Study – Developmental Evaluation and Screening

TEACHING POINT

Nutrition Guidance

Breast Milk

Breast milk is the preferred source of nutrition for most babies.
Babies who are exclusively or partially breastfed should receive 400 International Units of supplemental vitamin D daily beginning soon after birth.

Formula

Commercial formulas provide complete nutrition for those babies whose mothers are unable or unwilling to breastfeed. Available formulas include those made with:

Cow’s milk protein
Soy protein, or
Hydrolyzed cow’s milk protein

There are also specialized formulas that provide protein in the form of simple amino acids (the true elemental formulas).

Preparing the Formula

Ready-to-feed formula: Baby is fed directly from the bottle
Powder: Two scoops of the powder are mixed with 4 oz water
Formula concentrate: ratio is one part concentrate to one part water

There is no need to give an infant extra bottles containing water only, because formula or breast milk fulfills maintenance fluid requirements.

Transition to Regular Cow’s Milk

Infants should take breast milk or formula until 12 months of age. According to the American Academy of Pediatrics:

Young infants cannot digest cow’s milk as completely or easily as they digest breast milk or formula.
Cow’s milk contains high concentrations of protein and minerals, which can stress a newborn’s immature kidneys.
Cow’s milk lacks iron, vitamin C, and other nutrients that infants need.
Cow’s milk can irritate the lining of the stomach and intestine, leading to blood loss in the stool.
Cow’s milk does not contain the optimal types of fat for growing infants.

References

Why Formula Instead of Cow’s Milk? American Academy of Pediatrics. . Updated November 21, 2015.

QUESTION REGARDING DIET

Teaching

Early Growth

Most babies lose a little weight right after birth, then may regain their birth weight as early as 1 week of age, but are definitely expected to have regained their birth weight by 2 weeks of age.

Question

Of the following, which best reflects the caloric requirement of most healthy term babies in the first 1 to 2 months of life? Choose the single best answer.

The best option is indicated below. Your selections are indicated by the shaded boxes.

50 kcal/kg/day
100 kcal/kg/day
150 kcal/kg/day
200 kcal/kg/day

SUBMIT

Answer Comment

The correct answer is

Aquifer Case Study – Developmental Evaluation and Screening

TEACHING POINT

Caloric Requirements of 1- to 2-Month-Olds

Term infants	Infants born at >37 weeks gestational age require 100 to 120 kcal/kg/day. Average daily weight gain for term infants is 20 to 30 grams.
Preterm infants	Infants born at < 37 weeks gestational age require 115 to 130 kcal/kg/day.
Very preterm infants	Infants born at < 32 weeks gestational age require up to 150 kcal/kg/day.

TWO-MONTH GROWTH CHART

PHYSICAL EXAM (Aquifer Case Study – Developmental Evaluation and Screening)

Asia’s height and weight growth chart

You wash your hands and proceed to the physical exam portion of the visit, starting with Asia’s measurements.

Asia’s Measurements

Weight and length: 50th percentile
Head circumference: 75th percentile
Weight-for-length: 50th percentile

You determine that Asia’s growth is appropriate.

Tips for Examining a 2-Month-Old

Babies at this age have not yet developed stranger anxiety, but you may want to perform auscultation of heart and lung sounds early in the exam, especially if they are quiet and calm.

Babies should be examined in their diapers only.
Take care to cover the infant with a blanket if the room is cold.
It is helpful to smile and talk to the baby before your exam so that he/she can become comfortable with you.
The baby will likely smile back and make cooing noises during the exam.

TEACHING POINT

Growth Parameters

Weight and Length

Review the weight and length as recorded, repeating any measurement that is concerning or seems inconsistent.

Head Circumference

Measure the circumference around the widest portion of the head, from the broadest part of the forehead to the occipital prominence at the back of the head.

Growth Chart

Plot your measurements on the growth chart.

PHYSICAL EXAM

Asia’s height and weight growth chart

You wash your hands and proceed to the physical exam portion of the visit, starting with Asia’s measurements.

Asia’s Measurements

Weight and length: 50th percentile
Head circumference: 75th percentile
Weight-for-length: 50th percentile

You determine that Asia’s growth is appropriate.

Aquifer Case Study – Developmental Evaluation and Screening

Tips for Examining a 2-Month-Old

Babies at this age have not yet developed stranger anxiety, but you may want to perform auscultation of heart and lung sounds early in the exam, especially if they are quiet and calm.

Babies should be examined in their diapers only.
Take care to cover the infant with a blanket if the room is cold.
It is helpful to smile and talk to the baby before your exam so that he/she can become comfortable with you.
The baby will likely smile back and make cooing noises during the exam.

TEACHING POINT

Growth Parameters

Weight and Length

Review the weight and length as recorded, repeating any measurement that is concerning or seems inconsistent.

Head Circumference

Measure the circumference around the widest portion of the head, from the broadest part of the forehead to the occipital prominence at the back of the head.

Growth Chart

Plot your measurements on the growth chart.

TWO-MONTH PHYSICAL EXAM

PHYSICAL EXAM

Asia does not cry when you place her on the table; in fact, she smiles at you immediately.

Your examination findings:

Vital signs:

Temperature: Afebrile
Heart rate:100 beats/minute
Respiratory rate:40 breaths/minute

General: Active, alert, and nontoxic appearing

Head, eyes, ears, nose and throat (HEENT): Anterior fontanelle is soft and flat. Red reflex is present bilaterally; sclerae nonicteric. Mild neonatal acne is present. Lips are moist and pink. Tympanic membranes clear bilaterally. Palate is intact.

Lungs: Clear bilaterally, with equal air movement.

Heart: Regular rate and rhythm with no murmurs. Femoral pulses present bilaterally.

Abdomen: Normal bowel sounds, no masses or hepatosplenomegaly; abdomen is soft, nontender, and nondistended.

Hips: Ortolani and Barlow maneuvers negative bilaterally.

Genitalia: Normal female genitalia.

Neurologic: Tone is normal. Moves all extremities equally. Moro reflex is present and symmetric. Toes are upgoing bilaterally on Babinski maneuver.

Skin: There are no rashes, except for erythematous papules and pustules on the cheeks..

Back: No sacral dimple or hair tuft present.

TEACHING POINT

Moro Reflex

This reflex is elicited by an abrupt change in the infant’s head position and consists of two parts:

Symmetric abduction
Extension of the arms followed by adduction of the arms, sometimes with a cry.

The reflex is present at birth and disappears by age 4 months.

The Moro reflex may be used to detect peripheral problems such as congenital musculoskeletal abnormalities or neural plexus injuries.

DEEP DIVE

Aquifer Case Study – Developmental Evaluation and Screening

References

Bickley LS, Hoekelman RA. Bates’ Guide to Physical Examination and History Taking. 7th edition, Philadelphia: Lippincott; 1999.

Zitelli BJ, Davis HW. Atlas of Pediatric Physical Diagnosis. 4th ed., St. Louis, MO: C.V. Mosby; 2002:58.

CONTINUE

TWO-MONTH DEVELOPMENT

PHYSICAL EXAM

Expected tasks for age

Asia’s physical exam so far is normal, so you proceed to the developmental screen.

Mother’s Observations of Asia

Recognizes her parents and smiles a lot.
Asia’s mother has also noticed that Asia lifts her head and chest off the bed, but cannot roll over yet.
Sometimes makes cooing noises at home.

Your Observations

Asia can lift her chest off the table with her head held up around 90 degrees.
Follows past the midline.
Smiles often when you talk to her.

Asia’s development is appropriate for her age.

TEACHING POINT

Developmental Surveillance and Screening

Evaluating a child’s development may take place routinely during the well-child visit and at any other patient encounter if the examiner or parent has concerns, even during an acute visit or hospitalization.

Developmental Surveillance

Checking milestones (comparing a child’s behaviors to expected behaviors by age) is known as developmental surveillance.

Developmental surveillance generally includes assessment of milestones in four domains.

Gross motor
Fine motor
Communication/social
Cognitive/adaptive

If the child is not capable of passing the milestones in any of the four areas at or near the appropriate age, then these areas are of concern for possible delay and should be followed up or further testing or evaluation should be done.

Aquifer Case Study – Developmental Evaluation and Screening

Developmental Screening

Surveillance is not as sensitive or specific as using a validated developmental screening test to pick up true developmental or behavioral abnormalities.

Screening with a validated tool is recommended at 9, 18, and 24 months of age.

For more information on developmental screening, see the and , which includes videos demonstrating expected milestones in all four domains at each recommended well-visit age (2 months, 4 months, 6 months) from birth to age 5.

DEEP DIVE

References

2009 Glascoe FP, Roberstshaw NS, Ellsworth & Vandermeer Press, LLC, 1013 Austin Court, Nolensville, TN 37135. .

Identifying Infants and Young Children With Developmental Disorders in the Medical Home: An Algorithm for Developmental Surveillance and Screening. Pediatrics. 2006;118(1). Policy statement reaffirmed by the AAP November 2014 .

CONTINUE

TWO-MONTH ANTICIPATORY GUIDANCE

MANAGEMENT

At this point you reassure Asia’s mother that she has a very healthy baby, and you ask her if she has any questions. Mrs. Foster wonders when she should start giving Asia solid foods and whether she should give her vitamins. She also asks when she will sleep through the night:

TEACHING POINT

Anticipatory Guidance at the 2-month Visit

Solid Foods

Babies are developmentally ready to begin spoon feeding solid foods between 4 and 6 months of age.

Vitamin D

The recommended allowance of vitamin D for children up to 12 months of age is 400 units per day.

While there is remarkable evidence on the nutritional superiority of breast milk, there has been a concern that the amount of vitamin D in breast milk is not adequate. Unless infants drink 32 ounces (one quart) of formula or milk a day (both of which are supplemented with vitamin D), they may not receive enough vitamin D.
All breastfeeding infants and all infants drinking less than a quart per day of formula should receive vitamin D supplementation.
Infants who are breastfeeding should begin supplementation with liquid vitamin drops in the first few days of life.

More information on vitamin D: .

American Academy of Pediatrics Task Force on Sudden Infant Death Syndrome. SIDS and other sleep-related infant deaths: updated 2016 recommendations for a safe infant sleeping environment. Pediatrics. 2016;138(5):e20162938

Accessed March 15, 2018.

American Academy of Pediatrics Task Force on Sudden Infant Death Syndrome. SIDS and other sleep-related infant deaths: updated 2016 recommendations for a safe infant sleeping environment. Pediatrics. 2016;138(5):e20162938. Accessed March 15, 2018.

Aquifer Case Study – Developmental Evaluation and Screening

Child Care

Many parents appreciate receiving materials on .

Sleep

Most babies sleep through the night by age 4 to 6 months.
To help prevent SIDS, the AAP recommends that, for the first year of life, babies should sleep on their backs in their cribs on a firm surface, without soft objects like bumper pads, comforters, or stuffed animals, ideally, in their parents’ room.
More information on safe sleep:

Safety

Family members who smoke should be advised to quit or, at the very least, should avoid smoking around the infant.
Small objects and plastic bags should be kept away from the baby to avoid choking and suffocation.
Do not drink hot liquids while holding the baby.
Do not leave the infant alone on high places like the sofa or changing table. Always keep a hand on these squiggly babies!

References

American Academy of Pediatrics. Choosing a Child Care Center. .

Wagner, CL, Greer, FR, and the section on Breastfeeding and Committee on Nutrition. Prevention of rickets and vitamin D deficiency in infants, children, and adolescents: American Academy of Pediatrics Clinical Report. Pediatrics 2008;122(5); 1142-1152.

PLACEMENT OF CAR SEAT (Aquifer Case Study – Developmental Evaluation and Screening)

TEACHING

Mrs. Foster tells you that she bought a new car seat for Asia and asks you where she should place it in the car.

Question

Which of the following positions is most appropriate for Asia at this age? Choose the single best answer.

The best option is indicated below. Your selections are indicated by the shaded boxes.

Front seat, facing the rear
Front seat, facing the front
Back seat, facing the rear
Back seat, facing the front

SUBMIT

Answer Comment

> The correct answer is C.

TEACHING POINT

Car Seat Safety

Children under age 13 years old should not sit in the front seat.
Until age 2 years, children should face rearward.
The National Safety Transportation Board and the AAP stress that the back seat is the safest place in a vehicle for children.
The middle of the back is the most protected part of the automobile.
Car seats for children are required by law in all 50 states. Proper use is essential for optimum performance.
The most effective car seat restraint is a five-point harness, consisting of two shoulder straps, a lap belt and a crotch strap.
Car Seat Recommendations
Listed below are restraint recommendations according to the age of the child:

Under 2 years of age (and not over the manufacturer’s weight or height requirement for seat)	Rear-facing car safety seat, restrained in the rear seat
Between 2 years and 4 years of age	Forward-facing car safety seat, restrained in the rear seat
Between 4 years and 8 years of age	Belt-positioning booster seat, restrained in the rear seat
Over 8 years of age	Lap-and-shoulder seat belts for all who have outgrown booster seats, restrained in the rear seat
13 years of age and older	Lap-and-shoulder seat belt, rear or front seat

For more on car seat safety recommendations, see the , or the

Aquifer Case Study – Developmental Evaluation and Screening

TWO-MONTH VACCINES

MANAGEMENT

Question

Which of the following vaccines will you give Asia today at her 2-month visit? Select all that apply.

Resources

Link to the for current immunization schedules for children and adolescents.

The best options are indicated below. Your selections are indicated by the shaded boxes.

DTaP (diphtheria/tetanus/acellular pertussis)
MMR (measles/mumps/rubella)
HepB (hepatitis B)
Hib (Haemophilus influenzae)
IPV (inactivated polio vaccine)
PCV13 (pneumococcal conjugate vaccine – 13 serotypes)
RotaV (pentavalent rotavirus vaccine)
HepA (hepatitis A vaccine)

SUBMIT

Answer Comment

> The correct answers are A, C, D, E, F, G.

The appropriate immunizations for Asia today are her first doses of:

DTaP (A)
Hib (D)
IPV (E)
PCV13 (F)and
RotaV (G)

She should also receive her second HepB (C); her first was given in the nursery before discharge. (If a child has not received a HepB in the nursery, HepB #1 should be administered at the first office visit.)

The MMR (B) and HepA (H) vaccines are not given until 12 months of age.

Dr. Clark returns and verifies the information you provided. After asking if Ms. Foster has any other questions or concerns (she doesn’t), you and Dr. Clark record the orders for the vaccines and then ask Ms. Foster to schedule the next checkup, when Asia is 4 months old.

Aquifer Case Study – Developmental Evaluation and Screening

TEACHING POINT

Immunizations in Childhood

These are the vaccines and the number of doses of each that children should receive through 6 years of age:

Vaccine	Immunizes Against	Number of Doses
DTaP	Diphtheria, tetanus, pertussis	5
IPV	Polio	4
Hib	Haemophilus influenzae type B	3 or 4, depending on the vaccine manufacturer
PCV13	Pneumococcus (13 strains)	4
MMR	Measles, mumps, rubella	2
Varicella	Varicella	2
RotaV	Rotavirus	2 or 3, depending on the vaccine manufacturer
HepA	Hepatitis A	2
HepB	Hepatitis B	3

(Adolescent immunizations are discussed in other relevant cases in Aquifer Pediatrics.)

Seasonal Influenza

Routine annual influenza vaccination is recommended for all persons aged ≥6 months who do not have contraindications.

Combination Vaccines

Combination vaccines represent one solution to the issue of increased numbers of injections during single clinic visits, and may be used instead of their equivalent component vaccines if licensed and indicated for the patient’s age. Examples of combination vaccines are Pediarix® (DTaP, Hep B, IPV) and Pentacel® (DTaP, IPV, Hib).

Vaccine Adverse Events

Common side effects of immunizations include redness or swelling at the injection site, fussiness, and low-grade fever. Significant health problems that occur after immunization should be evaluated immediately and reported to the CDC’s national vaccine safety surveillance program, VAERS. The risks of adverse effects are far outweighed by the risks of serious consequences from contracting the diseases themselves, so the AAP recommends routine immunization of all healthy children.

References

Resources

Link to the for current immunization schedules for children and adolescents.

CONTINUE

INTERIM HISTORY: AGE 6 TO 9 MONTHS OLD

HISTORY

Today is Asia’s 6-month birthday, and she is here for her well-child visit.

You review her chart and see that she had a 4-month well-child visit with Dr. Clark. He did not have any concerns about Asia. He administered all of the required vaccines and documented that he provided anticipatory guidance.

After playing with Asia and getting a big smile from her, you get an interim history, as well as an updated diet and developmental history, from her mother.

“How has Asia been doing since I last saw her? Has she been sick at all or has she been in the hospital?”

“She’s been doing great. Over the last couple of months, she has really become interactive and playful. She’s a lot of fun.

Healthwise, she has had a couple of colds, because I had to put her in daycare when she was 3 months old. But she hasn’t been sick enough to see the pediatrician or go to the hospital.”

“Is she still taking formula? How much? Have you been feeding her solid foods?”

“She still takes formula, but now she takes about 8 oz four times a day.

She eats prepared baby food: fruits and vegetables and rice cereal. I was thinking about starting her on some meats, but I’m not sure if she’s ready for them.”

You note this question and tell Asia’s mother that you will bring her a handout on feeding infants:

“Does she roll over or sit by herself? Is she talking?”

“She’s been rolling over for a couple months, but she just started sitting by herself.

She babbles a lot, but she doesn’t say any words yet. She loves to laugh a lot.”

CONTINUE

QUESTION REGARDING GROWTH

Aquifer Case Study – Developmental Evaluation and Screening

TEACHING

Asia’s 6-month height and weight growth chart

You want to check Asia’s growth chart to make sure she has grown appropriately. You measure her head circumference yourself and plot the following on the growth curve:

Weight: 7 kg (15.4 lbs)

Length: 65 cm (25.6 inches)

Head circumference: 43 cm (17 inches)

Question

By what ages should an infant double and triple his or her birth weight? Choose the single best answer.

The best option is indicated below. Your selections are indicated by the shaded boxes.

Double by 3 months, triple by 6 months
Double by 4 months, triple by 6 months
Double by 5 months, triple by 12 months
Double by 9 months, triple by 15 months

SUBMIT

Answer Comment

> The correct answer is C.

TEACHING POINT

Typical Early Childhood Growth Patterns

Most healthy infants will double their birth weight by 4 to 5 months and will triple their birth weight by 1 year of age. In addition, most children will reach double their birth length by age 4 years.

Former preemies, small for gestational age babies, and others with chronic health issues do not always follow this pattern, and there are separate growth charts available for these special populations.

In 2006, the World Health Organization (WHO) released a new international growth standard which reflects how infants and young children grow under optimal nutritional conditions. The WHO standards establish the growth of the breastfed infant as the norm and provide a better description of ideal, rather than typical, growth patterns.

SIX-MONTH PHYSICAL EXAM

Aquifer Case Study – Developmental Evaluation and Screening

PHYSICAL EXAM

You wash your hands and prepare for the physical exam. Before you approach Asia, you notice that she is sitting on her mom’s lap with good head control and that she is very curious about her environment. You take her from her mother and place her on the examination table. She cries initially, but you are able to engage her by smiling and playing with her.

Asia is alert and active, often reaching for your stethoscope.
She is afebrile and her vital signs are normal.
Her entire physical exam, including her neurologic exam and red reflex, is normal.

TEACHING POINT

The Red Reflex

Description

The red reflex is the red or orange color reflected from the fundus through the pupil when viewed through an ophthalmoscope approximately 10 inches from the patient. It gives direct information about the clarity of the eye structures and therefore is a substitute for a careful fundoscopic exam, since a 6-month-old will not hold his or her gaze long enough for the examiner to visualize the retina consistently. Examination of the red reflex should be performed in a darkened room. In infants with more darkly pigmented skin the reflex may appear more gray than red.

This reflex should be elicited in all infants and children, beginning at birth.

Absence of a symmetric red reflex or the presence of leukocoria (white pupil) may indicate underlying abnormalities, including:

Cataracts
Glaucoma
Retinoblastoma
Chorioretinitis

When to Refer

A pediatric ophthalmologist should be consulted immediately if leukocoria, an abnormal or asymmetric red reflex, or signs of nonaccidental trauma are identified on physical examination.

References

Bickley LS, Hoekelman RA. Bates’ Guide to Physical Examination and History Taking. 7th ed., Philadelphia: Lippincott; 1999.

CONTINUE

SIX-MONTH DEVELOPMENTAL EXAM

TEACHING

Aquifer Case Study – Developmental Evaluation and Screening

Developmental Observations About Asia

Pulls to a seated position without a head lag.
Able to sit well without additional support.
Grabs block with her nearest hand and transfers it to the other hand and places it in her mouth.
Uses raking grasp to try to pick up a small toy on the table.
Frequently babbles, but not saying any specific words.

Question

Has Asia performed the expected developmental milestones for a 6-month-old infant?

The best option is indicated below. Your selections are indicated by the shaded boxes.

SUBMIT

Answer Comment

> The correct answer is A.

Yes, Asia is performing to the expected level on developmental surveillance.

TEACHING POINT

6-Month Developmental Milestones

Gross motor	· Rolls over · Sits unsupported · No head lag when pulled to sit from supine
Fine motor	· Reaches for objects · Looks for dropped items
Language	· Turns toward voice · Babbles (i.e., use of repetitive consonants: ba-ba-ba or da-da-da) (When the child says da-da-da, the family reinforces the sounds by praising the infant; then the infant makes the connection of the sound to the father.)
Social/Adaptive	· Feeds self · Demonstrates stranger recognition, the prelude to stranger anxiety

References

Bright Futures: Guidelines for Health Supervision of Infants, Children, and Adolescents, Third Edition (2008), an AAP publication.

SIX-MONTH ANTICIPATORY GUIDANCE

MANAGEMENT

After telling Mrs. Foster that Asia looks very healthy, you move on to anticipatory guidance. Even though Asia is not crawling yet, now is the time for her parents to childproof the home:

TEACHING POINT

Toddler-Proofing the Home

There are several steps parents or guardians should take to childproof their home – before children begin crawling and walking. These include:

Installing outlet covers
Putting in cabinet locks
Setting up stair barriers and
Making sure cleaning supplies and medicines are safely stored.

In addition, the number for poison control should be kept near the phone.

Question

Besides home safety, what are additional topics you could discuss with Asia’s mom regarding anticipatory guidance at this age?

The suggested answer is shown below.

SUBMIT

Answer Comment

Car seat placement 2. Avoid using a walker 3. Dietary changes 4. Expected developmental changes 5. Sleep patterns

TEACHING POINT

Anticipatory Guidance at the 6-month Visit

Car seat placement: The car seat should still be in the back seat, facing the rear.

Use of walkers: The AAP has recommended against the use of walkers because of the risk of injury, especially when there are stairs in the home. In addition, walkers do not teach children to walk any earlier than they otherwise would.

Dietary changes:

New foods should be introduced one at a time.
Babies do not need juice.
To prevent choking, all solid foods should be soft and easy to swallow.

Developmental changes:

6-month-olds may be resistant to being away from their primary caretaker for the next few months, but this “stranger anxiety” is normal.
If not already begun, now is a great time to start reading books to the infant.
The 6-month-old should be expected to take two naps per day, and will probably sleep through the night.

The AAP’s website has much more information on anticipatory guidance and well-child care for parents and professionals.

Aquifer Case Study – Developmental Evaluation and Screening

SIX-MONTH VACCINES

MANAGEMENT

Reviewing Asia’s , you confirm that she received her 4-month immunizations at that well visit. You ask her mother if she has had any difficulties with her previous immunizations. She reports some fussiness for a few hours, but she denies fever or other problems.

You decide to review the current year’s immunization requirements and recommendations.

Mrs. Foster asks you which immunizations will be given today:

DTaP #3
Hib #3
HepB #3
RotaV #3
PCV13 #3

You opt to hold the third IPV until the 9-month visit; the parent has been 100% adherent with office visits, and this will reduce the number of injections for this visit to four (there is flexibility for the third polio injection; it needs to be given anytime between 6 months and 18 months).

You and Dr. Clark bring the visit to a close by asking Mrs. Foster if she has any other concerns or questions. She does not, and you ask to see her back when Asia is 9 months old for another well-child visit.

TEACHING POINT

Annual Review of the Immunization Schedule

Members of the Centers for Disease Control and Prevention, the American Academy of Pediatrics, and American Academy of Family Physicians meet annually to formulate an immunizations schedule that is as evidence-based as is possible. .

TEACHING POINT

Acetaminophen and Vaccines

The use of antipyretics for the prevention of fevers associated with vaccine administration merits careful consideration. The prophylactic administration of acetaminophen has been associated with decreased antibody concentrations for some vaccine antigens, although all concentrations remained in the protective range.

INTERIM HISTORY: AGE 6 TO 9 MONTHS OLD

HISTORY

Asia at 9 months, with her mother

It is now three months later, and Asia has come to the office for her 9-month health maintenance visit.

You enter the exam room to find Asia smiling and playful in her mother’s lap. She looks healthy and appears to have grown well since her last visit. You sit down to take an interim history from her mother.

“How has Asia been doing since I last saw her? Do you have any concerns?”

“She’s doing great. She’s just growing up so fast. I have no concerns.”

“Is she still taking infant formula? What foods is she eating now? Is she having any problems with diarrhea or constipation?”

“Yes, she’s still taking the same formula. She drinks at least three 8-ounce bottles a day. She’s eating strained vegetables and fruits as well as lots of finger foods like crackers and toast. We gave her some chicken last week, and she seemed to like it. Her bowel movements are regular, usually two a day.”

Because Asia is now drinking less than 32 ounces a day of vitamin-enriched formula, you recommend Asia be supplemented with an over-the-counter infant liquid multivitamin.

“Is she napping during the day? How is she sleeping at night?”

“She takes a morning and afternoon nap, and then she sleeps through the night.”

DEEP DIVE

Aquifer Case Study – Developmental Evaluation and Screening

References

Shelov S, ed. Caring for Your Baby and Young Child: Birth to Age 5. American Academy of Pediatrics. New York: Bantam; 1998.

DEVELOPMENTAL MILESTONES

TEACHING

Asia sits on the exam table.

Mrs. Foster seems to be very happy with how Asia has been doing. On this visit, the nurse has already obtained Asia’s measurements and plotted her growth (shown above).

When you review the PEDS developmental screening form that Mrs. Foster completed, you note that she has no concerns.

You now want to know if Asia has met her 9-month developmental milestones.

Question

Of the following, which are developmental milestones that you expect to see in a developmentally appropriate 9-month-old infant? Select all that apply.

The best options are indicated below. Your selections are indicated by the shaded boxes.

Waves bye-bye
Has a well developed pincer grasp
Sits without support
Walks well
Says 2 words plus “mama” and “dada”

SUBMIT

Answer Comment

> The correct answers are A and C.

Review the or to see what is expected by this age.

Thinking about the various anticipatory guidance topics that are appropriate to review with Asia’s mother, you decide to discuss the 12-month milestones.

TEACHING POINT

12 Month Developmental Milestones

By the time a child is 12 months old, developmental milestones include:

Gross motor:Stands alone (many can walk well).
Fine motor:Has a well developed, “neat” pincer grasp.
Language:Says “mama” and “dada” (specific) and one or two other words.
Social/adaptive:Hands parent a book to read, points when wants something, imitates activities and plays ball with examiner.

Aquifer Case Study – Developmental Evaluation and Screening

NINE-MONTH PHYSICAL EXAM

PHYSICAL EXAM

Asia on the exam table

Asia seems to be right on track for her growth and development.

Asia’s mother has undressed her, and Asia lets you put her on the examining table.

You begin your exam in the least intrusive way, by auscultating her heart and lungs:

Chest/lungs: Symmetrical expansion, no retractions. Bilateral breath sounds are clear and symmetric.

Heart: Regular rate and rhythm, normal S1 and S2; no murmurs, gallops, or rubs.

Abdomen: Slightly distended. Active bowel sounds. A firm nodular mass is palpable on the right side extending below the subcostal margin approximately 6 cm. Its diameter is also about 6 cm and it does not appear to cross the midline. No splenomegaly.

CONTINUE

NINE-MONTH PHYSICAL EXAM CONTINUED

PHYSICAL EXAM

You have discovered an abdominal mass and are very concerned as you complete your exam. Here are the remainder of your findings:

Head, eyes, ears, nose and throat (HEENT)::

Head:Anterior fontanelle 1 cm.
Eyes:No scleral icterus. Conjunctival pallor noted. Extraocular movements are full; bilateral red reflex is seen.
Ears:Tympanic membranes are gray with light reflex bilaterally. They are mobile on insufflation.
Nares:Patent, no discharge.
Oropharynx:Mucosa moist and slightly pale, pharynx nonerythematous.

Neck: Supple, no masses.

Lymph: No cervical, axillary, or inguinal adenopathy.

Skin: Normal turgor. No jaundice. Pale nail beds.* Healing bruise on forehead. (Her mother tells you that she bumped her head on the coffee table when she pulled herself to standing.) No other bruises and no petechiae noted.

*The more the skin is pigmented, the less the skin can be used for detecting pallor. Inspection of conjunctivae, nail beds and mucous membranes will be more helpful.

Neurological: Alert and appropriate. Normal tone and symmetric movement of all extremities. Sitting well and pulls herself to stand. Crawls on exam table.

GU: Normal female genitalia.

SUMMARY STATEMENT

CLINICAL REASONING

You begin thinking of what could be causing an abdominal mass in an otherwise healthy and asymptomatic infant.

Question

Based on what you know about the patient so far, write a one- to three-sentence summary statement to communicate your understanding of the patient to other providers.

Guidelines for summary statements.

Your response is recorded in your student case report.

SUBMIT

Answer Comment

Asia is an asymptomatic, thriving 9-month-old girl incidentally noted to have a RUQ mass and pallor on routine well-child care exam. She has no lymphadenopathy, splenomegaly, or jaundice.

The ideal summary statement concisely highlights the most pertinent features without omitting any significant points. The summary statement above includes:

Epidemiology and risk factors: Asia is female, 9 months old, and thriving.

Key clinical findings about the present illness using qualifying adjectives and transformative language:

Asymptomatic, otherwise well
An incidentally noted RUQ mass
Pallor
No lymphadenopathy
No splenomegaly
No jaundice

DIFFERENTIAL DIAGNOSIS

CLINICAL REASONING

You consider the summary you’ve just written:

Asia is an asymptomatic, thriving 9-month-old girl incidentally noted to have a RUQ mass and pallor on routine well-child care exam. She has no lymphadenopathy or jaundice.

Question

Which of the following are on your differential diagnosis? Select all that apply.

The best options are indicated below. Your selections are indicated by the shaded boxes.

Appendiceal abscess
Congestive heart failure
Constipation
Fatty liver disease
Hepatic abscess
Hepatic neoplasm
Hydronephrosis
Neuroblastoma
Teratoma
Wilms’ tumor

SUBMIT

Answer Comment

> The correct answers are F, G, H, I, J.

TEACHING POINT

Aquifer Case Study – Developmental Evaluation and Screening

Differential Diagnosis for RUQ Mass and Pallor in a 9-Month-Old Infant

Serious illnesses may cause a decrease in growth and even weight loss, but normal growth should not eliminate serious diagnoses from your differential.

Condition	Discussion
Hepatic neoplasm	· Although rare in children this age, an hepatic neoplasm (whether malignant, such as hepatoblastoma, or benign) can cause an asymptomatic abdominal tumor and must be considered in a young infant with an asymptomatic RUQ abdominal mass. · Jaundice may be a feature, but the lack of jaundice does not rule out this diagnosis.
Hydronephrosis	· An obstruction at the uretero-pelvic junction can lead to hydronephrosis and a palpable kidney, sometimes manifesting as a flank mass. · In the newborn, a multicystic kidney may cause such an obstruction. · While possibly asymptomatic, hydronephrosis causing a 6 cm palpable mass would usually present with a urinary tract infection.
Neuroblastoma	· The most frequently diagnosed neoplasm in infants; more than half of patients present before age 2. · The tumor may present as a painless mass in the neck, chest, or abdomen. · Children with an abdominal neuroblastoma may be asymptomatic; however, they may also appear chronically ill and may have bone pain from metastases to the bone marrow or skeleton. · Fever, pallor, and weight loss are frequent presenting symptoms. · Neuroblastoma is a likely diagnosis in an infant younger than a year of age who has an asymptomatic RUQ abdominal mass and pallor and no jaundice.
Teratoma	· This is a rare malignant tumor. · A teratoma may present as a painless abdominal mass without other symptoms or it may cause pressure effects on neighboring structures resulting in abdominal or back pain, nausea, vomiting, constipation, and/or urinary tract symptoms. · A rare form of cancer (which in itself is rare in children), teratoma should be considered, even if it is quite low on the list.
Wilms’ tumor (nephroblastoma)	· This is a likely diagnosis in a child with an asymptomatic RUQ abdominal mass who has no lymphadenopathy or jaundice on exam and who is growing and developing normally. · These tumors are often discovered by the parents or on routine examination. · The masses are generally smooth and rarely cross the midline. · Associated symptoms occur in 50% of patients and include abdominal pain and/or vomiting; patients may also be hypertensive. · The median age at diagnosis is 3 years.

Consideration of the five more likely diagnoses for Asia:

Hepatic neoplasm (F) is consistent with her presentation and should be included in the differential. (More details about this condition are on the pages that follow.)

Asia’s age and the finding of pallor argue against hydronephrosis (G); however, it should be on the differential diagnosis, albeit lower than other causes.

Asia’s appropriate growth and lack of lymphadenopathy do not rule out neuroblastoma (H).

A teratoma (I) should be considered, although it is unlikely and Asia’s pallor and lack of symptoms argue against this diagnosis.

While Wilms’ tumor (J) should remain on the differential diagnosis, Asia’s age and the finding of pallor are two factors that argue against this diagnosis.

The following diagnoses are much less likely and would not be included in your initial differential diagnosis:

While an appendiceal abscess (A) may have fewer symptoms than acute appendicitis, a patient would typically have abdominal pain, fever, nausea, or anorexia.

Congestive heart failure (B) can lead to palpable hepatomegaly from right-sided heart failure; however, children with CHF have poor growth and very poor exercise tolerance.

Constipation (C) is the most common cause of a left-sided abdominal mass (especially in the LLQ from palpable stool in the sigmoid colon), usually mobile on palpation. It would not be palpable as an immobile RUQ mass. Also, typically there are other signs, such as a history of hard and/or infrequent stools.

Fatty liver disease (D), an increasing problem due to childhood obesity, could cause some palpable hepatomegaly, but this would just be a palpable liver “edge,” however, and not a full abdominal mass.

An hepatic abscess (E) can cause an abdominal mass. However, the child would typically have symptoms of hepatic dysfunction. An abscess can cause fevers, abdominal pain, malaise, and anorexia.

DISCUSSING EXAM FINDINGS

Aquifer Case Study – Developmental Evaluation and Screening

CARE DISCUSSION

After finishing your exam, you tell Asia’s mother that you will discuss all that you have discussed with Dr. Clark and will return with him.

Question

Dr. Clark asks you, “After I confirm your physical exam, if I agree with what you have found, how do you suggest we break this potentially terrible news to the family?”

The best options are indicated below. Your selections are indicated by the shaded boxes.

We can feel a hard mass on Asia’s right side, and we need to order some imaging tests and blood work to figure out what it is.
Asia has a firm area on the side of her abdomen. While there are common causes of this firmness, such as constipation, we are concerned that this could be something more serious.
I am concerned Asia may have a tumor in her abdomen. Sometimes these tumors can grow rapidly, so it is important that we evaluate the area as soon as possible.
Have you noticed that Asia has a firm area on her side? If so, how long has it been there?

SUBMIT

Answer Comment

> The correct answers are A, B, C, D.

TEACHING POINT

Introducing Difficult News

There are a number of acceptable ways to introduce a difficult topic such as a serious diagnosis to the family. Of course, as the family begins to understand the enormity of the diagnosis, they may not be ready to receive any more information.

Some recommendations:

Delivering information in a direct but caring fashion can allow a family member to start processing bad news.
Expect family members to react emotionally, and be prepared to respect and support their feelings.
When the family is emotionally ready to hear more information, it is important to convey that treatment decisions need to be made urgently.

Aquifer Case Study – Developmental Evaluation and Screening

DIAGNOSTIC EVALUATION

TESTING

Dr. Clark confirms your physical exam findings.. After discussing the plan with Asia’s mother, lab work and imaging are ordered. You follow up with Dr. Clark the next week and he says that after the initial round of tests, Asia was admitted to the local children’s hospital, and additional testing was obtained.

You review the results of Asia’s tests:

CBC with differential:

Lab Value	Conventional	SI
WBC	10.0 cells x10³/μL	10.0 cells x10⁹/L
Neut	35%	0.35
Lymph	60%	0.60
Mono	5%	0.05
Hgb	8.0 g/dL	80 g/L
Hct	25%	0.25
MCV	82 μm³	82 fL
Plts	243,000 mm³	243.0 x10⁹/L

Urine vanillylmandelic acid (VMA) and urine homovanillic acid (HVA): Significantly elevated.

Chest x-ray: Normal chest. No metastases.

Bone scan: Normal. No metastases.

Abdominal ultrasound : Retroperitoneal mass arising from the adrenal gland that does not cross the midline. The tumor has heterogenous consistency with both solid and cystic elements.

Abdominal ultrasound

Plain abdominal radiograph: Large mass in the right upper quadrant.

Plain abdominal radiograph

Abdominal CT scan: Retroperitoneal mass arising from the adrenal gland. Does not cross the midline. Heterogenous consistency with both solid and cystic elements. Diffuse stippled calcification with invasion of the renal parenchyma. No lymph node enlargement.

Abdominal CT scan

Technetium-99 bone scan

Technetium-99 bone scan

Bone marrow aspiration/biopsy: Histopathology reveals “small round blue cells” or small, uniform cells containing dense, hyperchromatic nuclei and scant cytoplasm, forming small cell rosettes.

Bone marrow aspiration/biopsy

TEACHING POINT

Initial Testing

Initial workup for abdominal mass

CBC with Differential

The CBC with differential is helpful in identifying the extent of anemia and to look for cytopenia that may be associated with bone marrow infiltration.
This test is not specific for any one diagnosis.

Catecholamine Metabolites (VMA and HVA)

Urine or serum VMA/HVA measures metabolites of catecholamines, which are elevated in neuroblastoma.
This test is highly specific for neuroblastoma and can be 90-95% sensitive in its detection.

Chest x-ray

A chest x-ray can identify metastases to the chest.
Chest CT or MRI is necessary only if metastases are seen on x-ray.

Skeletal Survey

A skeletal survey can identify metastases to the bone.

Abdominal Ultrasound

An abdominal ultrasound will identify a mass, show the organ of origin, and determine if the mass is solid, cystic or combined. (Purely cystic masses are less likely to be malignant.)
This is the best choice for a first imaging study.

Abdominal x-ray

A plain film can identify the presence of a mass, and perhaps whether it has calcifications, it cannot reveal other important information about the mass.
This film may be more urgent if there is any evidence of bowel obstruction from the mass.
The plain radiograph is not the best imaging study to order first.

Abdominal CT

A CT is best at revealing calcifications, and-importantly especially for a surgeon-shows the anatomy better than an ultrasound. It also reveals the consistency of the tumor.
Allows evaluation of the lungs during the same study, which is important in finding metastases.
If a lesion is purely cystic, a CT scan is not needed, which is why an ultrasound is done first.

Imaging and Laboratory Findings

	Imaging	Laboratory
Neuroblastoma	· CT scan may reveal calcifications and a heterogenous mass with cystic areas representing either hemorrhage or necrotic tumor. · Metastases are primarily to regional lymph nodes and to the liver, bone marrow, and skeleton. · Chest radiograph will reveal any lymph node involvement in the chest or additional tumors that may present in the posterior mediastinum.	· Histopathology reveals “small round blue cells” or small, uniform cells containing dense, hyperchromatic nuclei and scant cytoplasm, forming small cell rosettes. · Urinary HVA/VMA will be elevated in 90-95% of cases. · A CBC may reveal anemia or other cytopenias that are secondary to bone marrow infiltration.
Wilms’ tumor	· Ultrasound may identify the mass as intrarenal. · On CT scan the mass may be heterogenous with areas of low density representing necrosis. A pseudocapsule may be observed because of the sharp demarcation between tumor and normal renal parenchyma. · Pulmonary metastases may be identified on chest radiograph. · CT scan of the chest is indicated to visualize areas of lung below the level of the dome of the diaphragm.	· Laboratory findings may include hematuria.
Hepatic tumor	· Radiograph of abdomen will demonstrate hepatic enlargement with hepatic tumors. · CT scan will show tumor and origin of tumor. · Chest CT is indicated to look for pulmonary metastases.	· Diagnosis is dependent on histologic examination. · Laboratory studies of liver function are usually normal but liver enzymes and bilirubin may be elevated in 20% of cases. · Alpha-fetoprotein levels will be increased in most patients.
Teratoma	· Teratomas and germ-cell tumors are best identified with CT scan. · Tumors appear as well-defined masses with both solid and cystic components. · Teratomas are identifiable on plain x-ray only if calcified components, such as teeth or bony fragments, are present.
Constipation	· Constipation causing a palpable abdominal mass can readily be identified on plain radiographs of the abdomen. · No other radiographic evaluation is necessary.	· No laboratory evaluation is necessary.
Benign renal mass	· Hydronephrosis can be diagnosed with ultrasound. · Voiding cystourethrogram will demonstrate any ureteral obstruction or vesicoureteral reflux.

Aquifer Case Study – Developmental Evaluation and Screening

DIAGNOSIS

TEACHING

You review the results of Asia’s work-up with Dr. Clark:

Imaging studies

The mass is retroperitoneal and of nonrenal origin.
It is heterogenous in consistency.
There is local spread to the kidney.

Bone marrow pathology

Marrow involvement, and small cell rosettes are seen. (Small cell rosettes are highly suggestive of neuroblastoma.)

Bloodwork

Normocytic anemia

Urinary catecholamine values

Elevated, confirming a diagnosis of neuroblastoma

Because Asia has been diagnosed with neuroblastoma,she will need additional testing.

Genetic studies : MYCN gene amplification, quantitative DNA content, DNA sequencing. Results from these studies are important for prognosis and treatment.
MIBG (meta-iodobenzylguanidine) scan: because neuroblastoma cells absorb this protein it is usedlto look for metastases.

Dr. Clark explains that Asia has Neuroblastoma Stage 4S disease, which carries a favorable outcome.

TEACHING POINT

Prognosis of Stage 4S Neuroblastoma

It seems paradoxical for a cancer that has metastasized to be considered a favorable stage. However, in infants less than 1 year of age, these tumors may spontaneously regress.

This is due to the unique nature of this tumor derived from embryonal cell lines.

DEEP DIVE

Staging of Neuroblastoma

Stage	Description
1	Tumor localized to the area of origin.
2	Tumor extends beyond the area of origin, does not cross midline, may involve ipsilateral lymph nodes (Stage 2B).
3	Tumor extends beyond midline or has regional lymph node involvement.
4	Disseminated tumor to distant lymph nodes, bone, bone marrow, liver or other organs.
4S	Localized primary tumor as in Stage I or II with dissemination limited to liver, skin or bone marrow.

Aquifer Case Study – Developmental Evaluation and Screening

FAMILY MEETING

TEACHING

A family meeting is arranged to discuss Asia’s prognosis and treatment options. Present at this meeting in addition to Asia’s family are the oncologist, Dr. Clark, a nurse coordinator, a social worker, and yourself. This group of professionals will be very important in supporting Asia and her family through this difficult time.

Although Asia and her family will be seeing primarily the oncologist for the next few months, they will return to see you and Dr. Clark for Asia’s one-year visit.

DEEP DIVE

Treatment and Prognosis of Neuroblastoma

Stage	Treatment and Prognosis
1	· Surgical resection, chemotherapy if recurrence · Disease-free survival rate of 90%
2A	· Surgery and low-dose chemotherapy · Radiation for those who fail to respond · 2-year survival rate of 85%.
2B (infants)	· Surgery and low-dose chemotherapy · Radiation for those who fail to respond · 2-year survival rate of 85%
2B (children)	· Chemotherapy and/or irradiation · Mean survival is 60-70%
3 (infants)	· Surgery and low-dose chemotherapy · Radiation for those who fail to respond · 2-year survival rate of 85%
3 (children)	· Chemotherapy and/or irradiation · Mean survival is 60-70%
4 (infants)	· Chemotherapy and/or irradiation · Mean survival is 60-70%
4 (children)	· Chemotherapy, irradiation, and bone marrow transplantation · Overall survival is < 15%
4S	Infants older than 6 weeks: · Can be observed for tumor progression · Chemotherapy or local irradiation are given for enlarging abdominal masses that are causing respiratory compromise · Mean survival is 86% Infants younger than 6 weeks of age who lack skin involvement: · Mean survival is 38%

Important favorable prognostic factors include:

Non-amplification of the n-myc oncogene
DNA index > 1
Favorable histology (Shimada classification)
Age < 1 year.

Aquifer Case Study – Developmental Evaluation and Screening

GENETIC RISK

TEACHING

Mrs. Foster asks, “I’ve read that some cancers can be passed down in families. Is neuroblastoma one of those?” Explaining some of the terms, the oncologist tells her the latest findings on the genetics of neuroblastoma (see below).

You wish Mrs. Foster and Asia well and let them know you are available for any concerns that may arise. The family leaves, apprehensive about the upcoming treatments, but very comfortable with the care proposed and the explanations given.

TEACHING POINT

Genetics of Neuroblastoma

Familial

According to the most recent studies, there are familial forms of neuroblastoma, but these account for only about 1% of cases. The familial form appears to be autosomal dominant, with low penetrance.

Penetrance refers to the percent of individuals with a mutation that display the clinical effects of the mutation.
The fact that the mutation causing familial neuroblastoma has low penetrance means that many people who inherit the mutation will not have neuroblastoma.
For patients with a family history of neuroblastoma, genetic tests to determine if germline mutations in the PHOX2B or ALK genes are commonly done.

These pedigrees show examples of the autosomal dominant inheritance with complete and low penetrance:

Examples of the autosomal dominant inheritance with complete and low penetrance

Non-Familial

Most cases of neuroblastoma are due to somatic mutations. That is, these mutations arise in cells other than the gametes. Somatic mutations are not passed to the next generation.

References

Shojaei-Brosseau T, Chompret A, Abel A, de Vathaire F, Raquin MA, Brugieres L, Feunteun J, Hartmann O, Bonaiti-Pellie C. Genetic epidemiology of neuroblastoma: a study of 426 cases at the Institut Gustave-Roussy in France. Pediatr Blood Cancer. 2004 Jan;42(1):99-105.

Neuroblastoma-Childhood Guide, American Society of Clinical Oncology Cancer.Net

TWELVE-MONTH VISIT

HISTORY

When Asia comes back to see you for her 12-month checkup, you read the consultant notes from the pediatric hematology-oncology specialist:

Tumor was confirmed to be Stage 4S and lower-risk: She did not have the MYC-N gene amplification and had favorable histology.

The family and oncologist decided together that because the primary tumor was large, resection was a better option than observation for resolution. Of course, Asia will be observed closely for the next several years to make sure that the metastatic lesions resolve and that the primary tumor does not recur.

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Question

You are seeing a 36-month-old boy for his well-child visit. His parents are anxious about ensuring that his development is appropriate. He passed a hearing screen at birth and, other than a few colds, has been generally healthy. He has never been hospitalized or had any serious illness. He is able to run well, walk up stairs, and walk slowly down stairs. He uses more words than the parents are able to count, but can use them only in short, two or three-word sentences. His speech is understandable. He can draw a circle, but not a cross. Neurologic examination shows normal cranial nerves, normal sensitivity, normal motor reflexes, and no Babinski sign. Which of the following is the most appropriate next step in the management of this patient?

The best option is indicated below. Your selections are indicated by the shaded boxes.

Perform a brain-stem auditory evoked potential hearing screen
Perform a screening exam for autism
Reassure the parents that the boy’s development appears normal
Refer the child to a developmental specialist for comprehensive evaluation
Refer the child to a specialist for evaluation of his delayed motor development

SUBMIT

Aquifer Case Study – Developmental Evaluation and Screening

Answer Comment

> The correct answer is C.

A brain-stem auditory evoked potential hearing test (BAER) may be indicated in infants who fail to meet language milestones if they cannot cooperate with other more comprehensive testing. A 36-month-old should be able to cooperate with behavioral audiometry, so a BAER is not indicated. In addition, this child has no evidence of language delay and does not require referral at this point.
Autism is an increasingly diagnosed cause of developmental delay, but this child is not delayed and no mention is given of any autistic features, such as a lack of symbolic play, repetitive movements, or poor sociability.
The developmental milestones mentioned in the vignette are within the range of normal for a 36-month-old child. In the absence of any other evidence of significant impairment, there is no indication for referral at this point.
If there are reasons for concern on developmental screening tests, a referral may be indicated. However, the developmental milestones mentioned in the vignette are within the range of normal for a 36-month-old child.
This child’s motor milestones are not delayed, and no referral is indicated.

QUESTION #2

Sammy is a healthy male child brought into your office by his mother for a well-child examination. As part of your evaluation you assess his developmental milestones. He is able to run, make a tower of 2 cubes, has 6 words in his vocabulary, and can remove his own garments. What would you estimate Sammy’s age to be based upon his developmental milestones?

The best option is indicated below. Your selections are indicated by the shaded boxes.

12 months
15 months
18 months
30 months
36 months

SUBMIT

Aquifer Case Study – Developmental Evaluation and Screening

Answer Comment

> The correcgt answer is C.

At age one year, gross motor skills include pulling to stand, standing alone, and perhaps first steps. Fine motor skills including putting a block in a cup and banging 2 cubes held in hands. At this age a child should be able to imitate vocalizations/sounds and babble. The majority of children this age will know 1 or 2 words in addition to “mama” and “dada.” Social-emotional milestones at age one year are waving bye-bye and playing pat-a-cake. Running, building towers of blocks, removing clothing, and a 6-word vocabulary are more advanced skills than a 12-month-old would be expected to have.
At 15 months of age, a child should be able to stoop and recover and walk well, put a block in a cup, have a vocabulary of a few words, wave bye-bye, and drink from a cup. Running, building towers of blocks, removing clothing, and a 6-word vocabulary are more advanced skills than a 15-month-old would be expected to have.
At 18 months, a child should be able to walk backward, and 50-90% of children can run at this stage. An 18-month-old should be able to scribble, build a tower of 2 cubes, have 3-6 words in her or his vocabulary, and be able to help in the house and remove garments.
At 2 ½ years of age, kids can jump up and throw a ball overhand. They can build a tower of 6-8 cubes, point to 6 body parts, name 1 picture, put on clothing, and wash and dry their hands. Sammy is only able to build a tower of 2 cubes, can remove his clothing but does not yet put clothing on, and his vocabulary is limited to 6 words-leading us to believe he is not 2 ½ years old.
At age 3, children can balance on each foot for 1 second, wiggle their thumbs, name 4 pictures, name 1 color, name a friend, and brush their teeth with help. Sammy’s vocabulary is only 6 words, he is not able to name a friend, he is only able to stack 2 cubes, and he has just starting running, but is unable to balance on each foot for 1 second.

QUESTION #3

Mark is a 5-month-old male who is brought to the urgent care clinic with a three-day history of rhinorrhea and non-productive cough. When he was born he was large for gestational age, and his exam then was notable for macrocephaly, macroglossia, and hypospadias. On physical exam now his vitals signs are stable. He has copious nasal discharge, but his lungs are clear to auscultation. On abdominal exam, you palpate an abdominal mass on the right side just below the subcostal margin. It is 7 cm in diameter and does not cross the midline. The abdomen is soft and non-tender with active bowel sounds. What is the most likely cause of his mass?

The best option is indicated below. Your selections are indicated by the shaded boxes.

Wilms’ tumor
Teratoma
Renal cell carcinoma
Hepatoblastoma

SUBMIT

Answer Comment

> The correct answer is A.

Wilms’ tumor is commonly associated with Beckwith-Wiedemann syndrome, a genetic overgrowth syndrome. Other features that may be seen in children with this syndrome include omphalocele, hemihypertrophy, hypoglycemia, large for gestational age, and other dysmorphic features.
Teratomas are congenital tumors that are present at birth. These benign tumors that are often identified incidentally, or may become symptomatic due to mass effect of the lesion within the abdominal cavity. The aggressiveness of the tumor depends on the degree of differentiation.
Renal cell carcinomas are much more common in adulthood. Risk factors include cigarette smoking and obesity.
While children with Beckwith-Wiedemann syndrome can have hepatoblastoma (in addition to other types of tumors), this is not the most common tumor in this genetic condition. Note that hepatoblastoma may also be associated with familial adenomatous polyposis.

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QUESTION #4

An asymptomatic, healthy 9-month-old female is found to have a palpable RUQ mass on exam. After further imaging and lab studies, the mass is diagnosed as a neuroblastoma that has involvement in the bone marrow as well. The mother is worried about the prognosis. Which of the following is true about the prognosis of neuroblastoma in this child?

The best option is indicated below. Your selections are indicated by the shaded boxes.

Lymph node involvement is a poor prognostic factor
Prognosis of neuroblastoma is predictable
Children who are older than 12 months have a better prognosis than younger children
Favorable histology does not play a role in prognosis
Non-amplification of the n-myc gene is a favorable prognostic factor.

SUBMIT

Answer Comment

> The correct answer is E.

Due to the effectiveness of chemotherapy, neuroblastomas with lymph node involvement are still considered favorable, especially in the setting of other favorable factors, such as young age and differentiating histology. Though distant metastasis is a significant poor prognostic factor, regional lymph nodes do not significantly affect the outcome.
Neuroblastoma has a broad spectrum of clinical courses. Some tumors may spontaneously regress, some may mature to a benign type, and yet other tumors can be very aggressive with metastases. Age plays a role in the prognosis, as most infants have a good prognosis even with disseminated disease, while infants over 18 months of age do not do as well.
In infants less than one year of age, neuroblastoma tumors may spontaneously regress. Stage 4S neuroblastoma is a special category that is reserved for infants less than 12 months who have resectable primary tumors and metastases to the liver, skin, and bone marrow. Overall survival is over 85 percent for babies over 6 weeks of age with Stage 4S.
Favorable histology is a good prognostic factor in neuroblastoma, and is based on the differentiation of the cells involved.
Non-amplification of the n-myc gene is one of the favorable genetics in neuroblastoma.

QUESTION #5

A 9-month old baby boy comes to the clinic for a well-child visit. The child is at the 50th percentile for weight, length, and head circumference. He is reaching all developmental milestones appropriately. The mother has no concerns at this visit. The child has previously received the following vaccines: 3 doses of DTaP, 3 doses of Hib, 2 doses of HepB, 3 doses of RotaV, 2 doses of IPV and 3 doses of PCV13, and no influenza vaccines. Which vaccines should the child receive at today’s visit?

The best option is indicated below. Your selections are indicated by the shaded boxes.

Influenza, Hep B, IPV, DTaP
Influenza, IPV
Influenza, Hep B, IPV
Hep B, DTaP, IPV
Hep B, IPV, and MMR

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SUBMIT

Answer Comment

> The correct answer ic C.

Influenza, Hep B, IPV, DTaP is incorrect. All three doses of DTaP have been given.
Influenza, IPV is incorrect. The patient needs the third Hep B shot.
Influenza, Hep B, IPV is correct. The patient needs a third Hep B, a third IPV, and a yearly flu shot starting at 6 months of age.
Hep B, DTaP, IPV is incorrect. All three doses of DTaP have been given and the patient now needs a yearly flu shot starting at 6 months of age.
Hep B, IPV, and MMR is incorrect. The patient also needs a yearly flu shot starting at 6 months of age and MMR is not given before 12 months of age.

QUESTION #6

A 10-month-old asymptomatic infant presents with a RUQ mass. Work-up reveals a normocytic anemia, elevated urinary HVA/VMA, and a large heterogeneous mass with scant calcifications on CT. A bone marrow biopsy is performed. Which of the following histologic findings on bone marrow biopsy is most consistent with your suspected diagnosis?

The best option is indicated below. Your selections are indicated by the shaded boxes.

Sheets of lymphocytes with interspersed macrophages
Small round blue cells with dense nuclei forming small rosettes
Hypersegmented neutrophils
Stacks of RBCs
Enlarged cells with intranuclear inclusion bodies

SUBMIT

Aquifer Case Study – Developmental Evaluation and Screening

Answer Comment

> The correct answer is B.

This is incorrect, as sheets of lymphocytes with interspersed macrophages are associated with Burkitt lymphoma.
This is the correct response. In addition to neuroblastoma, other tumors associated with small blue cells include Ewing’s sarcoma and medulloblastoma, both of which tumors are seen in children.
Hypersegmented neutrophils are characteristic of megaloblastic anemia, a condition associated with a vitamin B12 and/or folate deficiency, not malignancy.
Stacks of RBCs suggest rouleaux formation, a phenomenon seen in multiple myeloma, a condition not seen in young infants.
This describes the classic “owl’s eyes” seen in CMV and other viral infections.

Thank you for completing Pediatrics 02: Infant well-child visits (2, 6, and 9 months).

DIAGNOSES

FINDINGS

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