xxiii Using This Book For the first time, Berkowitz’s Pediatrics: A Primary Care Approach has been expanded to a 3-part system that further reinforces the key messages found in the text. The 3 components of this system are w ww A textbook for use by students and instructors ww An instructor’s guide w Student worksheets Together, they form a comprehensive program for students, pediatric residents, pediatric nurse practitioners, pediatric physician assistants, and other health care professionals. 989 CHAPTER 132 Autism Spectrum Disorder Robin Steinberg-Epstein, MD CASE STUDY The mother of 18-month-old twin boys is concerned because 1 twin is not talking as much as his twin sibling. Both twins are quite active. The mother feels that even though the child is quiet, he is very smart. He likes to figure out how things work. He seems very sensitive to sounds and covers his ears around loud noises. He loves music and even knows which CD his favorite song is on. He will interact with his sibling but does not seem interested in other children. During the office visit, both boys are quite active. It is difficult to perform an adequate examination because the twin with limited language is crying the entire time. He does not seem to seek out his mother for comfort. Although both children have stranger anxiety, the twin about whom the mother is concerned seems to have extreme stranger anxiety. He appears well otherwise. Questions 1. What is autism spectrum disorder? 2. How does autism spectrum disorder differ from language delay? 3. How does the physician evaluate a child for autism spectrum disorder? 4. Where can a physician refer a patient with autism spectrum disorder? 5. What types of treatment are available? 6. Should a child suspected of having autism spectrum disorder receive further immunizations? Autism spectrum disorder (ASD) is characterized by impairments in social communication as well as restrictive, repetitive, and stereo typic behaviors or interests. According to the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5), a person with ASD must display persistent communication, interaction, and behavioral challenges across multiple contexts. These distur- bances must be present early on but may not be apparent until social demand exceeds the limitation. These characteristics must cause sig- nificant impairment and cannot be caused by cognitive impairment (Box 132.1). Cognitive impairment is often a comorbidity, however. This new term, ASD, includes the previous terminology of autis- tic disorder, Asperger syndrome, and pervasive developmental disorder–not otherwise specified the term ASD no longer includes Rett syndrome. Although criteria differ somewhat, all these disor- ders had in common an impairment in social communication and repetitive or unusual interests of varying degrees. These disorders require similar management and treatment, and assessing the level of impairment is somewhat subjective. Therefore, a single term— ASD—best incorporates all those individuals who are significantly affected by its symptomatology. Epidemiology As recently as 1999, the prevalence of ASD was thought to be 1 in 2,500. More recent numbers from the Centers for Disease Control and Prevention published in 2014 cite a prevalence of 1 in 59 chil- dren in the United States. The prevalence in Europe, Asia, and North America averages between 1% and 2% of the overall population. Boys are affected approximately 4 times as often as girls, which equates to 1 in every 38 boys. Affected girls are often more impaired than boys, however. Autism is considered the fastest-growing devel- opmental disability. This increase is, in part, the result of an under- standing of a broader phenotype. Clinical Presentation Autism spectrum disorder is truly a spectrum of social communication deficits. Although a certain set of behaviors defines the disorder, any child may have any combination of the symptoms that result in the same outcome—severe and incapacitating social deficits. Furthermore, the challenges experienced by this population are more than just develop- mental delays the behaviors of these individuals are aberrant and odd. Box 132.1. Diagnostic Criteria for Autism Spectrum Disorder w Deficits in social communication and interactions Social-emotional reciprocity Nonverbal communication Developing, maintaining, and understanding relationships w Preferred patterns of behavior, interests, or activities Repetitive, stereotypic motor movements, use of objects, or speech Need for sameness, routines, and patterns of verbal or nonverbal behavior Fixated interests of abnormal intensity or focus Increased or decreased reactivity to sensory input or sensory aspects of the environment Derived from Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. BPPCA6e_Ch132_0989-0996.indd 989 2/12/20 12:09 PM Textbook The sixth edition of Berkowitz’s Pediatrics: A Primary Care Approach continues its tradition of providing clear, practice-oriented guidance on the core knowledge in pediatrics. This patient-focused, practical text strives to present users with the situations and challenges they are most likely to encounter in their careers. Five new chapters have been added to this edition of the text: w ww Health Systems Science ww Population Health for Pediatricians ww Social Determinants of Health: Principles ww Adverse Childhood Experiences: Trauma-Informed Care w Commercially Exploited Children and Human Trafficking Instructor’s Guide The newly created Berkowitz’s Pediatrics Instructor’s Guide is designed to help facilitate learner-initiated discussion about core pediatric principles and common pediatric conditions. It also provides answers to the case study questions presented in each chapter of the textbook. The instructor’s guide allows for instructor and program flexibility as to how the book and the accompanying questions are used. Student Worksheets Student worksheets corresponding to each chapter’s case study questions are available online at https://services.aap.org/en/ publications/berkowitz/ in a user-friendly format that users can download, complete, and print or email to prepare for discussions. The case study questions contained in the worksheets are designed to help users critically apply the theories presented throughout the textbook. Students will be able to answer all case study questions by reading the corresponding chapter in the text. It is also appropriate to access some of the resources referenced in the chapters. 267 CHAPTER 132 Autism Spectrum Disorder CASE STUDY The mother of 18-month-old twin boys is concerned because 1 twin is not talking as much as his twin sibling. Both twins are quite active. The mother feels that even though the child is quiet, he is very smart. He likes to figure out how things work. He seems very sensitive to sounds and covers his ears around loud noises. He loves music and even knows which CD his favorite song is on. He will interact with his sibling but does not seem interested in other children. During the office visit, both boys are quite active. It is difficult to perform an adequate examination because the twin with limited language is crying the entire time. He does not seem to seek out his mother for comfort. Although both children have stranger anxiety, the twin about whom the mother is concerned seems to have extreme stranger anxiety. He appears well otherwise. Questions 1. What is autism spectrum disorder? Autism spectrum disorder (ASD) is characterized by impairments in social communication as well as restrictive, repetitive, and stereotypic behaviors or interests. According to the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5), a person with ASD must display persistent communication, interaction, and behavioral challenges across multiple contexts. This new term, ASD, includes the previous terminology of autistic disorder, Asperger syndrome, and pervasive developmental disorder–not otherwise specified the term ASD no longer includes Rett syndrome. Although criteria differ somewhat, all these disorders had in common an impairment in social communication and repetitive or unusual interests of varying degrees. These disorders require similar management, and assessing the level of impairment is somewhat subjective. Therefore, a single term—ASD—best incorporates all those individuals who are significantly affected by its symptomatology. 2. How does autism spectrum disorder differ from language delay? Language delay is isolated delay in the acquisition and expression of language. Autism spectrum disorder, however, is truly a spectrum of social communication deficits, often including developmental delays in multiple areas. Some affected individuals, because of an incredible ability to recognize patterns, can read as early as 2 years of age, even though they can neither speak functionally nor comprehend what they read. Inconsistent symptoms are the hallmark of this disorder. Some parents or guardians of children with ASD describe a phenomenon whereby the children are developing normally until 12 to 15 months of age and then suddenly lose skills or stop progressing. This finding is particularly concerning. 3. How does the physician evaluate a child for autism spectrum disorder? No single diagnostic test, blood or otherwise, can confirm the diagnosis of ASD. Diagnosis is based on history, interaction with the child, and meeting DSM-5 criteria. Regular developmental surveillance and screening should be part of every well-child evaluation, especially between ages 9 and 30 months. The Modified Checklist for Autism in Toddlers, Revised, with Follow-Up (M-CHAT-R/F) is an excellent autism-specific screening tool with moderate sensitivity and high specificity for use at the 18- and 24-month visits to identify individuals at high risk for ASD. Family history is also important, because ASD is presumed to have a genetic contribution and it may be helpful in identifying other etiologies. Understanding family structure is helpful in determining whether abuse, neglect, or maternal depression play a role in the child’s delay. It is important to remember, however, that ASD is not caused by poor parenting. BPIG6e_Ch132_267-268.indd 267 2/12/20 9:57 AM BERKOWITZ’S PEDIATRICS, 6TH EDITION, STUDENT WORKSHEET CHAPTER 132 Questions 1. What is autism spectrum disorder? 2. How does autism spectrum disorder differ from language delay? 3. How does the physician evaluate a child for autism spectrum disorder? 4. Where can a physician refer a patient with autism spectrum disorder? 5. What types of treatment are available? 6. Should a child suspected of having autism spectrum disorder receive further immunizations? The recommendations in this publication do not indicate an exclusive course of treatment or serve as a standard of medical care. Variations, taking into account individual circumstances, may be appropriate. Original resource included as part of Berkowitz’s Pediatrics: A Primary Care Approach, 6th Edition. © 2020 American Academy of Pediatrics. All rights reserved. CASE STUDY The mother of 18-month-old twin boys is concerned because 1 twin is not talking as much as his twin sibling. Both twins are quite active. The mother feels that even though the child is quiet, he is very smart. He likes to figure out how things work. He seems very sensitive to sounds and covers his ears around loud noises. He loves music and even knows which CD his favorite song is on. He will interact with his sibling but does not seem interested in other children. During the office visit, both boys are quite active. It is difficult to perform an adequate examination because the twin with limited language is crying the entire time. He does not seem to seek out his mother for comfort. Although both children have stranger anxiety, the twin about whom the mother is concerned seems to have extreme stranger anxiety. He appears well otherwise. CASE RESOLUTION The child’s parent completed an M-CHAT-R/F, and the child scored a 4 (ie, intermediate risk). A follow-up interview confirmed that the risk for ASD was significant, and the child was evaluated by a developmental- behavioral pediatrician and the local governmental agency, where he underwent a comprehensive assessment by a multidisciplinary team. The diagnosis of autism was confirmed, and his brother was noted to have a language delay. Both children were placed in an early intervention program. The primary patient was placed in a 1:1 structured teaching environment for 4 months. After exhibiting significant improvement, he was moved to a therapeutic preschool setting that emphasized generalization of his newly acquired skills, speech therapy, occupational therapy, and social skills. His brother received speech therapy 2 times per week. Both are due to start a regular kindergarten class in the fall, with ongoing speech and social support. The primary patient has been placed on a stimulant medication to control hyperactivity and problems with attention. Autism Spectrum Disorder BPPCA6e_FM_i-xxiv.indd 23 2/14/20 9:37 AM
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