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Early Identification and Management of Autism Spectrum Disorder: A Case Study, Study Guides, Projects, Research of Pediatrics

Guidelines for early identification and management of Autism Spectrum Disorder (ASD) in children. It includes information on developmental surveillance, recommended screening tools, and appropriate management plans based on screening results. The document also provides resources such as handouts, PowerPoint slides, and video library for further learning.

Typology: Study Guides, Projects, Research

2021/2022

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Screening for Autism
Spectrum Disorder
Endorsed by the American Academy of Pediatrics and the
Society of Developmental and Behavioral Pediatrics
Developed in partnership with
Health Resources and Services Administration
Maternal and Child Health Bureau
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Download Early Identification and Management of Autism Spectrum Disorder: A Case Study and more Study Guides, Projects, Research Pediatrics in PDF only on Docsity!

Screening for Autism

Spectrum Disorder

Endorsed by the American Academy of Pediatrics and the

Society of Developmental and Behavioral Pediatrics

Developed in partnership with

Health Resources and Services Administration

Maternal and Child Health Bureau

Autism Case Training:

Key Learning Objectives of This Case

  1. Perform ASD-specific screening as recommended by the AAP. a. Review the AAP guidelines on screening for ASD (Prompt 1.1 and Handout I: AAP Screening Guidelines) b. Discuss the importance of screening for ASD as part of developmental surveillance (Prompt 1.1) c. Choose an appropriate screening tool (Prompt 1.3 and Handout II: Screening Tools Chart) d. Administer and score a screening tool correctly (Case Study Part I: Activity and Handout VI: M-CHAT-R Scoring Instructions and Prompt 2.2)
  2. Develop an appropriate management plan based on the results of screening for ASD. a. Interpret screening results correctly (Case Study Part I: Activity) b. Explain the results of screening to parents (Prompt 1.4) c. Formulate an appropriate plan of care based on screening results (Prompt 2.1 and Handout VIII: M-CHAT-R Follow-Up Interview for Matthew or Handout IX: M-CHAT-R Follow-Up Interview for Claudia)

Only Have 30 Minutes to Teach? :

Focus your discussion on the AAP Screening guidelines and administering/scoring the M-CHAT-R screener and Follow-Up Interview. Focus on Matthew or Claudia and use:

  • Handout I: AAP Screening Guidelines
  • Potential Prompts: 1.1, 1.3, and 2.
  • Case Study Part I Activity for Matthew or Claudia: Handout IV or V
  • Case Study Part II Activity for Matthew or Claudia: Handout VIII or IX

Materials Provided

  • Case Worksheet for Learners
  • The Case Study: Part I, II, and III
  • Optional Teaching Tools − PowerPoint − Handouts - Handout I: AAP Screening Guidelines - Handout II: Screening Tools Chart - Handout III: Blank M-CHAT-R Form - Handout IV: M-CHAT-R Form for Matthew - Handout V: M-CHAT-R Form for Claudia - Handout VI: M-CHAT-R Scoring Instructions - Handout VII: Blank M-CHAT-R Follow-Up Interview - Handout VIII: M-CHAT-R Follow-Up Interview for Matthew - Handout IX: M-CHAT-R Follow-Up Interview for Claudia − Video Library
  • References Case Authors Rebecca J. Scharf, MD, Children’s Hospital at Montefiore, Albert Einstein College of Medicine Jan Harold Sia, MD, Yale University School of Medicine Demetra Pappas, MD, Children’s Hospital Boston, Harvard Medical School Maris Rosenberg, MD, Children’s Hospital at Montefiore, Albert Einstein College of Medicine Editors Georgina Peacock, MD, MPH, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention Carol Weitzman, MD, Yale University School of Medicine Jennifer Zubler, MD, Carter Consulting, Inc., at the National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention Jana Thomas, MPA, Porter Novelli Julia Whitney, BS, Carter Consulting, Inc., at the National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention Wendy Ruben, MS, Porter Novelli Patrick Mahoney, MPH, Porter Novelli

Autism Case Training:

Getting Started

This case is designed to be an interactive discussion of a scenario residents may encounter in their practices. Participation and discussion are essential to a complete learning experience. This Facilitator’s Guide provides potential prompts, suggestions for directing the discussion, and ideas for incorporating the optional teaching tools. It is not designed as a lecture.

Case study icons:

Call-out: step-by-step teaching instructions

Note: tips and clarification

Slide: optional slide, if using PowerPoint

Filmstrip: optional slide contains an embedded video

Paper: potential place to distribute an optional handout

:30 Digital clock: tips if you only have ‘30 Minutes to Teach’

Screening for Autism Spectrum Disorder

A Developmental-Behavioral Pediatrics Curriculum^ Autism Case Training:^4

Case Study Part I It’s a busy morning in the NICU, and you, a second-year pediatric resident, thinklongingly of the lunch you won’t be able to have as you quickly sign out your patients. You hurry over to your community clinic, arriving a few minutes late. Your first patientfor the afternoon is a baby you have been following since birth. You first met the family in the newborn nursery and have enjoyed seeing little Matthew learn to roll over, sit,cruise, and walk. Matthew is now 18 months old and is coming in for a routine health care maintenancevisit. As you enter the room, you smile at Matthew and ask his mother and father how he’s doing. “Great,” they reply. “He loves to explore our apartment and laughs like crazy whenwe play peek-a-boo. We have started taking him to the park, and he enjoys playing with blocks.” You do a physical exam on Matthew and note that he has said very few wordsduring the assessment. His eye contact is variable. When you ask about his language, Matthew’s parents indicate that, although they have noticed he’s not saying as manywords as they would have anticipated at his age, they attribute this to his being raised in a bilingual household. They indicate he only has a couple of words. You spend a few moremoments engaging Matthew in play before going back to the conference room to present to the attending. Although Matthew is a quiet and sweet boy, you remain concerned about his language and variable eye contact. Given his age, Matthew should have an ASD-specific screening as well as a general developmental screening as part of his 18-month checkup. Afterdiscussing Matthew’s case with your preceptor, you go back to the family. You discuss the importance of screening with Matthew’s parents. You explain to Matthew’s parentsthat screeners are not used to diagnose, but can provide important information regarding milestones that Matthew should be reaching. You give Matthew’s parents the screeningtool to complete. Your next patient is Claudia, a 2-year-old girl who has just moved to the area from another state. This is Claudia’s first visit to the clinic. As you introduce yourself to Claudia, you notice that she stares at the door. You complete a physical exam and look over Claudia’simmunization record. You ask Claudia’s dad about preschool, and he replies that since Claudia does not speak yet, the family decided not to place her in preschool. You attemptto engage Claudia with toys, but Claudia appears more interested in the buttons on her sweater. You go back to your preceptor and describe Claudia’s concerning behavior andlack of words. You and your preceptor agree that these may be signs of an ASD. After explaining the routine of screening for ASDs at the 18-month and 2-year-old visits, you givethe screening tool to Claudia’s dad for completion. Case Study Part I: Discussion Question After reading the case, ask participants, “What stands out to you aboutMatthew and/or Claudia?”

Distribute “CaseStudy Part I” Slide 3

Slide 4

Follow up withstudent responses to encourage morediscussion:

  • What in the case supports that?
  • Why do you think that?
  • What makes you say that?

Why is This Case Important?

Early identification of autism spectrum and other developmental disorders may allow access to interventions, which may lead to improved outcomes. Formal screening of every child for autism spectrum disorder during pediatric visits has been recommended by the American Academy of Pediatrics (AAP) at 18 and 24 months. This case highlights important issues surrounding screening for autism spectrum disorder.

Introduce the session goal and format of the case study

Slide 1- Cultural Competence

It is important for clinicians to understand how different childrearing practices and cultural norms may influence key decisions that parents make regarding their child, including obtaining evaluations and treatment, future planning, and acceptance of the child’s diagnosis. Clinicians can approach parents openly and honestly by asking them about their unique style of parenting and how the information or recommendations provided are received.

See the curriculum introduction for additional information on cultural competence and potential discussion questions.

Autism Case Training:

Supporting Information for Potential Prompts

1.1 Discuss developmental surveillance and developmental screening.

The American Academy of Pediatrics (AAP) recommends developmental surveillance be performed at every health supervision visit. Developmental surveillance is the ongoing process of identifying children who may be at risk for developmental delays. It is a “flexible, longitudinal, continuous, and cumulative process” consisting of five components:

  1. Eliciting and attending to the parents’ concerns about their child’s development
  2. Documenting and maintaining a developmental history
  3. Making accurate observations of the child
  4. Identifying risk and protective factors
  5. Maintaining an accurate record and documenting the process and findings

Elements of surveillance relevant to ASD include:

  • Eliciting parent concerns about hearing or unusual responsiveness, temperamental variations (irritability, passivity), unusual sensitivities (e.g., aversive to sounds or textures or extreme food preferences), or resistance to transitions
  • History of milestones , particularly in the domains of communication and social-emotional development
  • Observations of impaired relatedness (e.g., eye contact, little interest in others, prefers to play alone), lack of joint attention (e.g., pointing to indicate interest, showing objects of interest, looking at an object then back at the parent), lack of response to name, more interest in objects than people, repetitive behavior or play patterns, lack of creative or imaginative play (appropriate to developmental level)
  • Obtaining family member history , especially siblings diagnosed with ASD, indicating a tenfold increased risk as compared to the general population

Case Study Part I: Potential Prompts

1.1 Discuss developmental surveillance and developmental screening.

1.2 When should we start screening for ASD? Why?

1.3 What screening tool should be used?

1.4 How should information be communicated to parents with regards to screening and screener results?

1.5 How would you respond to the parents attributing Matthew’s language delay to being raised in a bilingual household?

1.6 What are the strengths of this child and family?

:

:

:

I. AAP Screening Guidlines

Autism Case Training:

Concerns raised during surveillance should be addressed with standardized developmental screening tests. Screening refers to the use of measures with supported reliability and validity that are administered in a standardized way. Screening tests are recommended by the AAP at the 9-, 18-, and 30-month visits (or at the 24-month visit if a 30-month visit is not routinely scheduled).

By incorporating developmental surveillance and screening into primary care visits, the pediatrician can provide anticipatory guidance to the family to support their child’s development and to facilitate early detection of a disorder.

1.2 When should we start screening for ASD? Why?

In Identification and Evaluation of Children with Autism Spectrum Disorders , AAP also recommended administering a standardized autism-specific screening tool on all children at the 18-month well-child visit. In 2006, the recommendation was expanded to screen at 24 to 30 months of age to identify those who may regress after 18 months of age.

A standardized screening tool should be used at any point that concerns about ASD are raised by a parent. It should also be used as a result of clinician observations or if there are suspect answers to surveillance questions about social, communicative, and play behaviors.

1.3 What screening tool should be used?

The choice of a screening instrument depends on a variety of factors. Screening tests vary with respect to sensitivity, specificity, reliability, and validity.

  • Sensitivity is the ability of a test to identify correctly those who have the disease [i.e., true positives over all positives (true positives and false negatives)].
  • Specificity is the ability of a test to identify correctly those who do not have the disease [i.e., true negatives over all negatives (true negatives and false positives)].
  • Reliability is the repeatability of a test; ability of a test to obtain consistent results.
  • Validity is the ability of a test to measure a certain criterion; strength of conclusion.

Screening tests ideally should have a sensitivity and specificity of at least 85 percent to be considered acceptable. Additional factors must be considered, such as cost, availability in multiple languages, reading level required, and whether the test relies on a caregiver report or screener’s observations.

The Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R) can be administered and scored as part of a well-child care visit, and also can be used by specialists and other professionals to assess risk for ASD. The M-CHAT-R

:30 (^) II. Screening Tools Chart

III. Blank M-CHAT-R

Autism Case Training:

  1. Intervening earlier in a child’s developmental course can lead to improved outcomes.
  2. Screening involves using a standardized tool to identify and describe a child’s risk for developmental delay (in this case, ASD).
  3. Screening is done routinely at the 18- and 24- or 30-month visits, or when any concerns are raised during surveillance.
  4. Screening is not diagnostic. A positive screening test identifies a child at higher risk than one with a negative screen, but does not provide a diagnosis. Further diagnostic evaluation is needed to determine diagnosis and help develop intervention catered toward individual strengths and challenges.

1.5 How would you respond to the parents attributing Matthew’s language delay to being raised in a bilingual household?

Growing up in a bilingual household should not be used as a reason to explain away a child’s speech or language delay. Sometimes, bilingual children may have a short-lived delay in expressive language, but their receptive language should not be affected by being spoken to in two different languages. The delay in expressive language should be no more than 1-2 months. It is important when assessing a child’s speech to count words in both languages to come up with the total number of words that a child is speaking.

1.6 What are the strengths of this child and family?

It is always important to explore the strengths of a child with autism spectrum disorder or developmental delays. Parents and clinicians may become so focused on the deficits and, in some cases, the behavioral issues that a child is having, that they aren’t able to notice what the child does well.

  • By asking a family about what a child excels in, and what their positive traits are, one is able to frame recommendations for intervention and treatment in the context of these strengths.
  • Asking about what a child likes can be used when discussing next steps.
  • Finally, in addition to exploring the strengths of the child, it is helpful to think about the strengths of the family and how these can be used when discussing options and next steps for treatment.

It is always helpful for clinicians to take the time to note and explain changes and improvements in functioning and positive features of the child to parents.

  • Matthew: − Attained his motor milestones appropriately − Enjoys interactive games − His parents describe him as a quiet and sweet boy
  • Claudia: − She takes some interest in other children − She uses her finger to point to communicate her needs to her parents − She responds to her name at times − Her parents have demonstrated appropriate concern for Claudia and have asked relevant questions

Autism Case Training:

Case Study Part I: Discussion Question

Before moving to Part II, ask participants, “What would you do next?”

Case Study Part II

Matthew’s parents complete the questionnaire and give it back to the nurse. The nurse scores the M-CHAT-R and determines that he has scored a three, putting him at Medium-Risk for ASD. You discuss Matthew with your preceptor, and together you decide to refer to an audiologist and administer the Follow-Up questions to get additional information about at-risk responses on the M-CHAT-R and then determine the appropriate referrals.

Claudia’s dad is unsure of the answers to several questions as mom typically cares for Claudia during the day. He asks to speak with you. Upon scoring the M-CHAT-R, you note that Claudia scored a nine, plus two “unsure” responses, putting her at High-Risk for ASD. You tell Claudia’s dad that some of his responses about Claudia’s behavior raised concerns about her development. You explain that you would like to ask him or Claudia’s mom some questions to clarify his responses.

Distribute “Case Study Part II

Slide 6

Slide 7

Distribute “Case Study Part II”

Case Study Part I Activity: Scoring the M-CHAT-R Screener

Distribute M-CHAT-R forms for Matthew and/or Claudia. Ask learners to score each M-CHAT-R.

Scoring Algorithm

For all items except 2, 5, and 12, the response “NO” indicates ASD risk; for items 2,

5, and 12, “YES” indicates ASD risk. The following algorithm should be followed:

  • LOW-RISK: Total Score is 0-2; if child is younger than 24 months, screen again after second birthday. No further action required unless surveillance indicates risk for ASD.
  • MEDIUM-RISK: Total Score is 3-7; administer the Follow-Up questions (second stage of M-CHAT-R/F) to get additional information about at-risk responses. − If 2 or more Follow-Up questions indicate ASD risk then the child has screened positive for ASD. Action required: refer child for diagnostic evaluation and eligibility evaluation for early intervention. − If 0-1 Follow-Up questions indicate ASD risk then the child has screened negative for ASD. No further action required unless surveillance indicates risk for ASD. Child should be rescreened at future well-child visits.
  • HIGH-RISK: Total Score is 8-20; it is acceptable to bypass the Follow- Up questions and refer immediately for diagnostic evaluation and eligibility evaluation for early intervention.

:

IV., V., and VI. Cmpleted M-CHAT-Rs for Matthew and Claudia and Scoring Template

Slide 5

Autism Case Training:

M-CHAT-R questionnaire? :

The Follow-Up questions help clarify answers and obtain additional information for at-risk items. The Follow-Up questions improve the ASD detection rate and reduce the number of screen positives when compared to the M-CHAT alone. The Follow-Up questions can also be viewed as a starting point for active and repeated discussion regarding parental concerns. A Follow-Up Interview should be done

  • any time a child scores 3-7 total points on the M-CHAT-R.
  • when a child scores 8-20 total points on the M-CHAT-R AND either the parent or provider is unsure of responses.

2.3 What would contribute to a false negative screen? A false positive screen?

  • A parent or caregiver who does not fully comprehend the items might provide responses based on experience and perceptions that may not reflect true behavior. The Follow-Up questions are designed to help clarify questions and responses. Providers can help illiterate or low-literacy parents complete the paper form.
  • Completing the M-CHAT-R at an early age (younger than the recommended age) might also contribute to a false negative or false positive screen. Approximately 30% of children with ASD show a period of typical development followed by plateau or regression, and screening too early might miss some of these later-onset children.
  • A child with other forms of developmental delay or other atypical forms of development might exhibit some ASD symptoms, which would result in a false positive screen. Similarly, toddlers with severe developmental delays or impairments in vision and/or hearing may have a false positive screening for ASD.
  • Some children with ASD, particularly those with more intact language and intellectual development, may have more subtle symptoms at an early age. Thus, mild symptoms and even an absence of symptoms at 18 months does not “rule out” a later diagnosis of ASD. Ongoing surveillance and follow up are essential, particularly for children who are referred as a result of early concerns, but who do not initially receive an ASD diagnosis.

Clinical judgment should be considered when assessing a child. Even if a screen is negative, if there are professional or parental concerns, the child should be referred for a comprehensive evaluation and to early intervention.

Autism Case Training:

Case Study Part III – Epilogue: Discussion Question

How would you apply the information in this case?

What did you learn through this case?

Slide 11

Case Study Part III – Epilogue

Matthew’s parents return the next week for a follow-up appointment to discuss the results of the screening tool, and you conduct the Follow-Up Interview. On the Follow-Up Interview, Matthew passes all the items. You discuss Matthew’s development with his parents and ask them if they have any concerns. They state that they do not at this time. You provide ideas for engaging Matthew in creative play, as well as facilitating speech and language development, and you make another health care-maintenance appointment for Matthew during which you will continue to follow his development progress. Per the AAP recommendations, Matthew should have another ASD-specific screen at 24 months or earlier if the parents or physician have concerns.

Claudia and her parents also return the next week so you can obtain further history and complete the M-CHAT-R Follow-Up Interview with her mom and dad. You were concerned by Claudia’s results on the M-CHAT-R, and you would like to use the Follow-Up Interview to identify the areas of greatest need and where to focus your energies. Claudia’s parents’ responses note continued concerns regarding Claudia’s communication and social skills. For instance, Claudia takes interest in children, but typically does not respond to the presence of others. She does not engage in pretend play and does not play properly with toys, preferring to bang them on the floor. Although she uses her finger to point, she cries and whines when she wants something and does not use gestures or pointing in order to gain attention from others. Claudia also does not imitate others. She occasionally responds to her name, but does not respond when she is focused on a preferred activity. She also has been noted to stare at nothing and wander. Given the presence of continued concerns, you speak in depth with Claudia’s parents regarding the possible diagnosis of autism spectrum disorder based on the screening measures. Of note, although some of Claudia’s initially reported behaviors of concern are resolved on the M-CHAT-R Follow- Up Interview, and Claudia’s dad is unsure of some of Claudia’s behaviors, there remain enough concerning behaviors to warrant referral for further evaluation. You address the need for a formal evaluation to clearly delineate Claudia’s symptoms. Claudia’s parents are in agreement with the concerns, but also wonder how these results are accurate, based on such a short time for observation. You refer Claudia for a hearing evaluation and an assessment by an early intervention specialist. You also refer her for a complete evaluation by a developmental specialist.

You schedule a follow-up visit with Claudia and her parents in two months to continue to follow her progress and to ensure that assessments and services are underway.

Slide 10

Distribute “Case Study Part III – Epilogue