Summative Cases

Summative Case #4

Kathleen Peterson, PhD, RN, PNP, CNE

Case Study

Patient Profile

Name: Luis

Age: 26 months old

Gender: male

History of Present Illness

Luis is a 26-month-old boy at the pediatric clinic for his two-year well-child visit. He is a healthy child being seen in the clinic only for well visits and twice for URIs that were treated with supportive measures. He is the youngest of four children who have all been generally healthy. All children are up to date with immunizations. The children live with both their mother and father. Dad is employed full-time as a mechanic for a bus company, and mom is a stay-at-home mom. The children’s health insurance is covered by the Children’s Health Insurance (CHIP). When placed in the examination room, mom was provided with two screening tools, the Ages & Stages-3 (ASQ-3) and the Modified Checklist for Autism in Toddlers, Revised (CHAT-RTM) as this is Luis’ 24-month-old well-child visit and was asked to complete both.

While conducting a review of systems, mom states that he is picky with foods that he will eat, preferring soft foods. He does not like veggies or fruits and does not like to try new foods. He started toilet training as his older siblings are all trained, and he seemed interested in this, but mom sees him clenching his “butt cheeks” and doing funny dances at times. He has been having less than three bowel movements in a week the past few weeks. He frequently cries when trying to pass stools, which are often small and ball-like. Luis still takes one nap a day and sleeps through the night but will only sleep if he has a silky light blanket with him. Mom reports that Luis knows a few colors and counts to five.

Mom describes Luis as a busy boy who can climb and run. He tends to not play with his siblings and is content playing by himself. His mother states that he loves to place his cars in a line rather than moving them around a play rug with roads on it. Mom reports that Luis likes “everything in its place.” If she moves the broom she uses to sweep the steps, Luis will put it back where it is usually stored. Mom states that she prefers to use the broom to sweep when she can because Luis cries when she turns on the vacuum cleaner when she is in the same room.

Mom states that Luis uses many words but almost always repeats words and phrases that his parents and siblings say to him. Mom also states that sometimes Luis does not seem to hear when he is called.

Upon examination, the provider finds a well-nourished, happy child who is cooperative with his physical exam. His physical exam is all within normal limits, except for the presence of a medium mass in his lower left quadrant.

Luis has brought a few cars and trucks to play with at the office, and he places them in a line so that they are all facing the same way, about ¼ inch apart. The provider moves one toy and Luis immediately puts the toy back in line.

While in the exam room, Luis tripped over his toys and fell to the ground. His mom said to him “you’re OK” and Luis immediately said back to her “you’re OK,” in a flat, monotone voice. The provider asked mom if Luis often states back to her what she has said to him, and mom says that he does this most of the time and that one of her brother’s children does the same thing.

Screening Tool

Though the patient’s mother was provided with the screening tools when in the exam room she did not have time to complete them.  The nurse practitioner chose to complete the M-CHAT-R™ with the mother first.  The overall score on the M-CHAT-R™ was 10. Review the screening tool at mchatscreen.com. Then review the interpretation below and answer the review questions about the positive and negative symptoms of ASD.

According to Robins, et al., the following is the interpretation of the total score:

A Total Score of 0-2 signifies a LOW likelihood for autism, and this is a negative screen. It is suggested that the child be screened again at 24 months of age if the child was younger than this age when screened, or if future assessment indicates likelihood for autism.

A Total Score of 3-7 suggests that there is a MODERATE likelihood of autism. Administer the M-CHAT-R Follow-Up items that correspond to the elevated likelihood responses that are found in the M-CHAT-R  Follow-Up. Only those items which were scored at elevated likelihood need to be completed. If two or more items continue to indicate elevated likelihood, the result is a positive screen. Refer the child immediately for early intervention and a diagnostic evaluation.

A Total Score of 8-20 is a positive screen for and indicates a HIGH likelihood for autism. It is not necessary to complete the M-CHAT-R Follow-Up, and this child should be referred immediately for early intervention and a diagnostic evaluation.

More signs and symptoms of Autism may be found on the CDC’s website.

Checkpoint

Which of the following questions, if answered affirmatively on the M-CHAT-R™, could support a diagnosis of autism for Luis?

  1. Does your child pretend or make-believe?
  2. Have you ever wondered if your child might be deaf?
  3. Does your child walk?
  4. Does your child try to copy what you do?

Which of the following questions on the M-CHAT-R™ could indicate a diagnosis of autism if Luis’ mother answers no? (select all that apply)

  1. Does your child respond to you when you call his or her name?
  2. Does your child get upset by everyday noise?
  3. Does your child make unusual finger movements near his or her eyes?
  4. When you smile, does he or she smile back at you?
  5. Does your child understand when you tell him or her to do something?
  6. Does your child like movement activities such as being swung or bounced on your knee?

Activity: Reviewing Symptoms

What symptoms of Autism Spectrum Disorder (ASD) were reported by Luis’ mother during the exam? (Mark the word question)

Mom states that he is picky with foods that he will eat, preferring soft foods, and he does not like to try new foods. He started toilet training as his older siblings are all trained and he seemed interested in this, but mom sees him clenching his “butt cheeks” and doing funny dances at times. He has been having less than three bowel movements in a week the past few weeks. He frequently cries when trying to pass stool, which is often small and ball-like. Luis still takes one nap a day and sleeps through the night but will only sleep if he has a silky light blanket with him. Mom reports that Luis knows a few colors and counts to five.

Mom describes Luis as a busy boy who is able to climb and run. He tends to not play with his siblings and is content playing by himself. His mother states that he loves to line cars up in a line rather than moving them around a play rug with roads on it. Mom reports that Luis likes “everything in its place.” If she leaves the broom she uses to sweep the steps in a place other than the place where she normally stores it, Luis will put it back where it is usually stored. Mom states that she prefers to use the broom to sweep when she can because Luis cries when she turns on the vacuum cleaner if he is in the same room.

Mom states that Luis uses many words, but almost always he repeats words and phrases that his parents and siblings say to him. Mom also states that sometimes Luis does not seem to hear when he is called.

 

Activity: Reviewing Exam Findings

What findings from the provider’s physical exam and observation of Luis may suggest ASD? (Mark the word question)

The provider finds a well-nourished, happy child who is cooperative with his physical exam. His physical exam is all within normal limits, except for the presence of a large mass in his lower left quadrant.

Luis has brought a few cars and trucks to play with at the office, and he placed them in a straight line. When mom moved one truck from the line, Luis immediately puts the toy back where he placed it in line.

While in the exam room, Luis tripped over his toys and fell to the ground. His mom said to him “you’re OK” and Luis immediately said back to her “you’re OK” in a flat, monotone voice.

Watch

To review other symptoms, watch the Kennedy Krieger Institute’s video on Symptoms of Autism in Young Children: View at youtu.be/YtvP5A5OHpU?si=heXrU5EtmDUNmhS2

Checkpoint

When discussing your concerns about Luis with mom and the need for an early intervention evaluation, Luis’ mom starts crying and says, “I am so afraid that his immunizations may have caused this problem.”

How should the provider respond to Luis’ mom?

  1. “You are right to have concerns about this as a side effect of certain immunizations may be development delays.”
  2. “There is a lot of misinformation about vaccines, which unfortunately can be very stressful for parents to sort out. There are multiple very reliable studies that have shown there is no connection between immunizations and autism. You can rest assured the vaccines you gave Luis helped keep him healthy and did not cause his autism.”
  3. “You are correct that a preservative used in vaccines has been found to be a cause of developmental delays and autism.”
  4. “I would suggest that you not have some vaccines given to Luis.”

Luis’ mother then asks if there is a blood test to confirm the diagnosis of autism. Which of the following would be the best response to Luis’ mother?

  1. “We can confirm the diagnosis of autism by a blood test.”
  2. “We can confirm the diagnosis of autism with a CAT scan.”
  3. “There is no medical test or blood test that confirms the diagnosis of autism.”
  4. “A family history may confirm the diagnosis of autism.”

Luis’ mom asks the provider if there are any medications that can be given to Luis for autism. The provider responds:

  1. “Methylphenidate may be used to help the symptoms of autism.”
  2. “Tricyclic medication is often used for patients with autism.”
  3. “There are no medications that will make the symptoms of autism go away.”*
  4. “There are a variety of medications that can be used for autism.”

Case Study, Continued

A combination of evidence-based treatments are used with children with autism. A video from the Icahn School of medicine discusses several in their video “Evidence-based Interventions in Autism.” More information on treatment and interventions for autism spectrum disorder may also be found at the CDC’s website.

A second issue that was raised at Luis’ visit is related to constipation with holding back his stool, having less than three bowel movements per week, crying when trying to defecate, and having small and ball-like stool. Constipation is a related characteristic that children with ASD may have, in addition to delayed language skills and motor skills, delayed cognitive skills, hyperactive or inattentive behavior, seizure disorder, unusual eating and sleeping patterns, unusual emotional reactions, excessive worry, and lack of fear or more fear than expected (CDC, 2024b).

Symptoms of constipation include fewer than three bowel movements a week, stools that are hard, dry, or lumpy, and stools that are difficult or painful to pass. A parent may see a child standing on tiptoes and rocking back on their heels, clenching their buttocks, or doing dancelike movements. These positions and behaviors may allow a child to avoid or delay having a bowel movement (2018c).

When asked about further information about Luis’ constipation, mom states that the symptoms of constipation started shortly after he started toilet training. As stated before, he does not eat many fruits and veggies. Mom states that one of his favorite foods is cheese.

Review Questions

Click the arrow to expand the section and view the correct answers.

  1. From the history and physical exam, does Luis have functional or organic constipation?
Answer:

Functional

Discussion: Functional constipation is most common in the pediatric population. It occurs when children hold back their bowel movements. Organic constipation is when a child has pain with bowel movements that is associated with other medical issues such as celiac disease, thyroid problems, or other medical disorders (Reeves & Waasdorp Hurtado, 2022).

  1. Based on health history and physical examination, which of the following should the provider order?
    1. Rectal biopsy
    2. Abdominal ultrasound
    3. Nutritional consult
    4. Colorectal transit studies
Answer:

C. Nutritional consult

Discussion: Based on the conversation with Luis’ mother, Luis has very little fiber in his diet. A nutritional consultation would be the first plan of action. A nutritionist would be able to assist Luis’ mother with suggestions for changes in Luis diet, as well as techniques to encourage Luis to try new foods. If Luis’ constipation does not improve with nutritional changes and medications discussed below, tests such as colorectal transit studies and an abdominal ultrasound may be ordered. A rectal biopsy may be ordered as needed as this is the best test for Hirschsprung's disease. Since Luis’ constipation started at the same time he began toilet training and he had normal stools before this, Hirschsprung disease would be very unlikely (NIH, 2018b).

A change in routine, such as starting toilet training, may cause anxiety for a child and make it hard for them to relax on the toilet, which may lead to constipation. Children with autism are also more likely to become constipated.

It is important for children who are being toilet trained to follow a regular toilet routine, including having the child sit on the toilet after every meal and using a footstool to support their feet. The use of a footstool will improve toileting posture and facilitate the expulsion of feces by straightening the anorectal angle and encouraging the relaxation of the puborectalis muscle (Reeves & Waasdorp Hurtado, 2022).

  1. What other suggestions should be made to Luis’ mother related to his constipation? (select all that apply)
    1. Include fruits and veggies in Luis’ diet.
    2. Ensure Luis has plenty of opportunities for activity and moving around.
    3. Ensure that Luis drinks at least six water-based drinks each day.
    4. At least 2 slices of white bread a day.
Answer:

A. Include fruits and veggies in Luis’ diet; B. Ensure Luis has plenty of opportunities for activity and moving around; C. Ensure that Luis drinks at least six water-based drinks each day.

Discussion: Exercise, activity, fruits and veggies, and water-based drinks are important to treat and to prevent constipation. Fiber is important to include in Luis’ diet, while bread does not have any fiber in it (Reeves & Waasdorp Hurtado, 2022; NIH 2018a; ERIC, 2022).

  1. Luis’ mom asks if there is any medication that can help Luis’ current constipation and be used for daily maintenance. Which of the following would be the best first-line medication at this time?
    1. Secretagogue laxatives
    2. Enemas
    3. Manual disimpaction
    4. Osmotic laxatives
Answer:

D. Osmotic laxatives

Discussion: Secretagogue laxatives are medications that should be used by pediatric Gastroenterologists. These are not approved for use in children by the U.S. Food & Drug Administration.

An enema may be used for removing the evacuation of stool when a child is first constipated but should not be used for daily maintenance.

Manual disimpaction is done by inserting a gloved, lubricated finger into the rectum to remove the stool. This would be very uncomfortable for Luis and should be avoided.

Evidence shows that the osmotic laxative polyethylene glycol 3350 (PEG) does not cause autism spectrum disorder, is safe to use in infants, toddlers, and young children, and children do not develop a tolerance for this medication. This medication is found in products like MiraLAX (Reeves & Waasdorp Hurtado, 2022).

Reeves & Waasdorp Hurtado (2022) provide three steps to medical disimpaction before starting maintenance therapy. These steps may be found at healthychildren.org. It is important to note that the goal of Step 1 is to produce diarrhea to evacuate the buildup of stool.

Many parents have questions about what normal bowel movements should look like in their children. Sharing the Pediatric Bristol Stool Form Scale for Children with parents will help parents determine if their children’s bowel movements are the correct softness. This scale ranges from Type 1 where stool are separate hard lumps and hard to pass, to Type 5 which is watery stool with no solid pieces. The goal is to have Type 3 (like a sausage, smooth and soft) or Type 4 (fluffy pieces with ragged edges, a mushy stool).

A Constipation Action Plan may be helpful to assist parents in knowing when and what medications to give their child for constipation. This plan includes cleaning out medications and then three zones: a green zone “I feel good,” a yellow zone “I feel bad,” and a red zone “I feel worse.” This constipation action plan includes symptoms, medication to give, and other instructions for each zone, which may be very helpful in assisting parents to monitor and treat their child’s constipation. This plan is meant to provide evidence-based medication and behavioral interventions in a way that may be understood by those with lower health literacy (Cochrane, 2021).

References

Ages & Stages (2025a). ASQ-3. Paul H. Brooks Publishing Co. https://agesandstages.com/products-pricing/asq3/

Ages & Stages (2025b). ASQ-3. Paul H. Brooks Publishing Co. https://agesandstages.com/wp-content/uploads/2015/02/asq-3-48-month-sample.pdf

Center for Disease Control (2024a). CDC’s Developmental Milestones. U.S. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/actearly/milestones/index.html

Center for Disease Control. (2024b). Signs and Symptoms of Autism Spectrum Disorder. U.S. Centers for Disease Control and Prevention. https://www.cdc.gov/autism/signs-symptoms/index.html

Center for Disease Control. (2024c). Thimerosal and Vaccines. U.S. Centers for Disease Control and Prevention. https://www.cdc.gov/vaccine-safety/about/thimerosal.html

Center for Disease Control. (2024d). Treatment and Intervention for Autistic Spectrum Disorder. U.S. Centers for Disease Control and Prevention. https://www.cdc.gov/autism/treatment/index.html

Cochrane, D. J. (2021). Care planning, diagnosis and management in pediatric functional constipation. New Zealand Medical Journal, 134(1536), 113-123. https://nzmj.org.nz/journal/vol-134-no-1536/care-planning-diagnosis-and-management-in-paediatric-functional-constipation

Ejlskov, L., Wulff, J. N., Kalkbrenner, A., Ladd-Acosta, C., Fallin, M. D., Agerbo, E., Mortensen, P. B., Lee, B. K. & Schendel, D. (2021). Prediction of autism risk from family medical history data using machine learning: A national cohort study from Denmark. Biological Psychiatry Global Open Science, 1(2), 156-164. https://doi.org/10.1016/j.bpsgos.2021.04.007

ERIC: The Children’s Bowel and Bladder Charity. (2022). Constipation in children: Symptoms, causes and relief. https://eric.org.uk/childrens-bowels/constipation-in-children/

Icahn School of Medicine. (2020, Oct 10). Evidence-based interventions in autism. [Video]. YouTube. https://youtu.be/oDdVaX-2eoU?si=lFRwk9LcqGuLfb5b

Kennedy Krieger Institute. (2013, June 11). Early signs of autism video tutorial. [Video]. YouTube. https://youtu.be/YtvP5A5OHpU?si=heXrU5EtmDUNmhS2

National Institute of Health. (2018a). Eating, Diet, & Nutrition for Constipation in Children. https://www.niddk.nih.gov/health-information/digestive-diseases/constipation-children/eating-diet-nutrition

National Institute of Health. (2018b). Diagnosis of Constipation in Children. https://www.niddk.nih.gov/health-information/digestive-diseases/constipation-children/diagnosis

National Institute of Health. (2018c). Symptoms and Cause of Constipation in Children. https://www.niddk.nih.gov/health-information/digestive-diseases/constipation-children/symptoms-causes

National Institutes of Health. (2021). Medication Treatment for Autism. U.S. Department of Health and Human Services. https://www.nichd.nih.gov/health/topics/autism/conditioninfo/treatments/medication-treatment

Reeves, P. T. & Waasdorp Hurtado, C. (2022). Constipation in children. Healthy Children.org. https://www.healthychildren.org/English/health-issues/conditions/abdominal/Pages/Constipation.aspx

Robins, D.L., Fein, D., Barton, M. (2009) Modified Checklist for Autism in Toddlers, Revised, with Follow-Up. https://www.mchatscreen.com/wp-content/uploads/2025/03/M-CHAT-R_F_Rev_March2025.pdf

definition

License

Icon for the Creative Commons Attribution-NonCommercial 4.0 International License

Be Prepared for Your Nurse Practitioner Clinical Readiness Exam Copyright © 2026 by Elizabeth Heavey, Renee Biedlingmaier, Colleen Burgoyne and Carnel C. Jackson is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License, except where otherwise noted.

Share This Book