Autism Tara Anne Matthews, MD Fellow Kapila Seshadri, MD Associate Professor of Pediatrics UMDNJ Robert Wood Johnson Medical November 28, 2012
Why Talk about Autism -Prevalence 1 in 6 children (17 %) diagnosed with developmental / behavioral problem 1 in 8 children (13 %) diagnosed with developmental disability 1 in 110 children (0.9 %) diagnosed with autism spectrum disorder (CDC revised this number to 1 in 88). http://www.cdc.gov/ncbddd/autism/data.html Developmental disorders have subtle signs and may be easily missed
Definition of Autism Leo Kanner 1943-44 described children with inability to form social relationships, aloofness, lack of imagination, and persistence of sameness. They came from highly intelligent families but had very few really warm hearted fathers and mothers. These families were strongly preoccupied with abstractions of a scientific, literary or artistic nature and limited in genuine interest in people.
Definition of Autism Hans Asperger late 1940 s identified children with symptoms similar to Kanner s children, but they lacked language delays and were exceptionally gifted Lorna Wing 1981 gave the label Asperger Syndrome to these children M. Rutter 1978 proposed 4 sets of diagnostic criteria for autism: social impairment, language disturbances, insistence on sameness, and onset before 30 months of age.
Diagnostic and Statistical Manual of Mental Disorders (DSM) DSM I 1952 psychotic reactions in children, manifesting primarily autism classified under Schizophrenic reaction, childhood type DSM II 1968 Schizophrenia, childhood type This category is for cases in which schizophrenic symptoms appear before puberty. The condition may be manifested by autistic, atypical and withdrawn behavior DSM-III first time Infantile Autism is separate diagnosis (thanks to Wing and Rutter) DSM-IV was published in 1994 DSM-IV-TR, was published in July 2000. The primary goal of DSM-IV-TR was to update the 1994 text and ICD-9 codes DSM-V scheduled to come out in 2013
DSM-IV 1994 /DSM-IV IV-TR 2000 Disorders Usually First Diagnosed in Infancy, Childhood, or Adolescence
Disorders Usually First Diagnosed in Infancy, Childhood, or Adolescence Mental Retardation Learning Disorders Motor Skills Disorder Communication Disorders Pervasive Developmental Disorders Attention Deficit and Disruptive Behavior Disorders
Disorders Usually First Diagnosed in Infancy, Childhood, or Adolescence Feeding and Eating Disorders of Infancy or Early Childhood Tic Disorders Elimination Disorders Other Disorders of Infancy, Childhood or Adolescence
Pervasive Developmental Disorders Autistic Disorder Asperger s Disorder Pervasive Developmental Disorder Not Otherwise Specified ------------------------------------------------------ Childhood Disintegrative Disorder Rett s Disorder
Diagnostic Criteria for Autistic Disorder Six or more items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3): (1) qualitative impairment in social interaction, as manifested by at least two of the following: marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction failure to develop peer relationships appropriate to developmental level a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest) lack of social or emotional reciprocity
Diagnostic Criteria for Autistic Disorder (2). qualitative impairments in communication as manifested by at least one of the following: delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime) in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others stereotyped and repetitive use of language or idiosyncratic language lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level
Diagnostic Criteria for Autistic Disorder (3) Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following: encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus apparently inflexible adherence to specific, nonfunctional routines or rituals stereotyped and repetitive motor manners (e.g., hand or finger flapping or twisting, or complex whole-body movements) persistent preoccupation with parts of objects
Diagnostic Criteria for Asperger's Disorder Qualitative impairment in social interaction, as manifested by at least two of the following: marked impairment in the use of multiple nonverbal behaviors such as eye-to eye gaze, facial expression, body postures, and gestures to regulate social interaction failure to develop peer relationships appropriate to developmental level a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest to other people) lack of social or emotional reciprocity
Diagnostic Criteria for Asperger's Disorder Restricted repetitive and stereotyped patterns of behavior, interests and activities, as manifested by at least one of the following: encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity of focus apparently inflexible adherence to specific, nonfunctional routines or rituals stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements) persistent preoccupation with parts of objects
Diagnostic Criteria for Asperger's Disorder The disturbance causes clinically significant impairment in social, occupational, or other important areas of functioning. There is no clinically significant general delay in language (e.g., single words used by age 2 years, communicative phrases used by age 3 years). There is no clinically significant delay in cognitive development or in the development of age-appropriate self-help skills, adaptive behavior (other than in social interaction), and curiosity about the environment in childhood. Criteria are not met for another specific Pervasive Developmental Disorder or Schizophrenia
Rett s s Disorder & Childhood Disintegrative Disorder Rett s syndrome caused by mutations in the MECP2 gene, is characterized by autistic features in one of its phases Slowing of motor development between 6-18 months Decline in social interactions, cognitive abilities, purposeful hand movements, and speech ages 1-4 years. Childhood disintegrative disorder develop normally in the first 4 to 5 years of life and then go through a period of disintegration
Pervasive Developmental Disorder Not Otherwise Specified (Including Atypical Autism) PDD-NOS
PDD-NOS This category should be used when there is a severe and pervasive impairment in the development of reciprocal social interaction associated with impairment in either verbal or nonverbal communication skills or with the presence of stereotyped behavior, interests, and activities, but the criteria are not met for a specific Pervasive Developmental Disorder, Schizophrenia, Schizotypal Personality Disorder, or Avoidant Personality Disorder. For example, this category includes "atypical autism" - presentations that do not meet the criteria for Autistic Disorder because of late age at onset, atypical symptomatology, or subthreshold symptomatology, or all of these.
DSM-V.2013
Category change Disorders Usually First Diagnosed in Infancy, Childhood, or Adolescence Anxiety Disorders Neuro developmental Disorders
Neurodevelopmental Disorders Intellectual Developmental Disorders Communication Disorders Autism Spectrum Disorder Attention Deficit / Hyperactivity Disorder Learning Disorders Motor Disorders
Autism Spectrum Disorder Must meet criteria A, B, C, and D. Criteria A: Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays, and manifest by all 3 of the following: Criteria B: Restricted, repetitive patterns of behavior, interests, or activities as manifested by at least two of the following: Criteria C: Symptoms must be present in early childhood (but may not become fully manifest until social demands exceed limited capacities). Criteria D: Symptoms together limit and impair everyday functioning.
Autism Spectrum Disorder: Criteria A A. Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays, and manifest by all 3 of the following: 1. Deficits in social-emotional reciprocity; ranging from abnormal social approach and failure of normal back and forth conversation through reduced sharing of interests, emotions, and affect and response to total lack of initiation of social interaction 2. Deficits in nonverbal communicative behaviors used for social interaction; ranging from poorly integrated- verbal and nonverbal communication, through abnormalities in eye contact and body-language, or deficits in understanding and use of nonverbal communication, to total lack of facial expression or gestures. 3. Deficits in developing and maintaining relationships, appropriate to developmental level (beyond those with caregivers); ranging from difficulties adjusting behavior to suit different social contexts through difficulties in sharing imaginative play and in making friends to an apparent absence of interest in people.
Autism Spectrum Disorder: Criteria B B. Restricted, repetitive patterns of behavior, interests, or activities as manifested by at least two of the following: 1. Stereotyped or repetitive speech, motor movements, or use of objects; (such as simple motor stereotypies, echolalia, repetitive use of objects, or idiosyncratic phrases). 2. Excessive adherence to routines, ritualized patterns of verbal or nonverbal behavior, or excessive resistance to change; (such as motoric rituals, insistence on same route or food, repetitive questioning or extreme distress at small changes). 3. Highly restricted, fixated interests that are abnormal in intensity or focus; (such as strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests). 4. Hyper-or hypo-reactivity to sensory input or unusual interest in sensory aspects of environment; (such as apparent indifference to pain/heat/cold, adverse response to specific sounds or textures, excessive smelling or touching of objects, fascination with lights or spinning objects).
Autism Spectrum Disorder Criteria C and D C. Symptoms must be present in early childhood (but may not become fully manifest until social demands exceed limited capacities) D. Symptoms together limit and impair everyday functioning.
DSM-V V Autism Spectrum Disorder The terms PDD and Asperger s will no longer exist. Instead, there is a proposed severity scale to describe children on the Autistic Spectrum.
Autism Severity Severity Level for ASD Level 3 Requiring very substantial support Level 2 Requiring substantial support Level 1 Requiring support Social Communication Severe deficits in verbal and nonverbal social communication skills cause severe impairments in functioning; very limited initiation of social interactions and minimal response to social overtures from others. Marked deficits in verbal and nonverbal social communication skills; social impairments apparent even with supports in place; limited initiation of social interactions and reduced or abnormal response to social overtures from others. Without supports in place, deficits in social communication cause noticeable impairments. Has difficulty initiating social interactions and demonstrates clear examples of atypical or unsuccessful responses to social overtures of others. May appear to have decreased interest in social interactions. Restricted interests & repetitive behaviors Preoccupations, fixated rituals and/or repetitive behaviors markedly interfere with functioning in all spheres. Marked distress when rituals or routines are interrupted; very difficult to redirect from fixated interest or returns to it quickly. RRBs and/or preoccupations or fixated interests appear frequently enough to be obvious to the casual observer and interfere with functioning in a variety of contexts. Distress or frustration is apparent when RRB s are interrupted; difficult to redirect from fixated interest. Rituals and repetitive behaviors (RRB s) cause significant interference with functioning in one or more contexts. Resists attempts by others to interrupt RRB s or to be redirected from fixated interest.
How to Identify and Diagnose Children with Autism And then where to refer them
Identify/Diagnose Early signs of autism are often present before 18 months Make screening and surveillance an important part of routine care Know the subtle differences between typical and atypical development Learn to recognize red flags Listen to parents Use validated screening tools
SCREENING TOOLS The AAP recommends screening for Autism at age 18 and 24 months BAYLEY INFANT NEURODEVELOPMENTAL SCREEN (BINS) MODIFIED CHECKLIST FOR AUTISM IN TODDLERS (M-CHAT) CHECKLIST FOR AUTISM IN TODDLERS (CHAT) SCREENING TOOL FOR AUTISM IN TWO-YEAR-OLDS (STAT)
Suggested questions to ask in a primary care setting Does your child : Look toward you when you speak to him? Point out things to you in the environment? Play interactive games like peek-a-boo? Show interest in other children his age? Point to what he is interested in? Nod his head to indicate yes, and shake his head to indicate no? Respond socially consistently whenever spoken to?
Suggested questions to ask in a primary care setting Does your child : Lead you by the hand towards an item without looking at you? Use your hand as a tool, without looking at you? Show preoccupation with a few select activities? Show repetitive unusual behaviors or mannerisms?
Indications for referral Birth/any age : lack of response to sound 4 months : lack of response to speech 6 to 9 months : lack of or loss of cooing/babbling 12 months : no pointing, no mama or dada 15 to 18 months : no single words, no jargon, unable to follow verbal command
Indications for referral 24 months : vocabulary less than 50 words, no 2 word phrases, less than 50% speech intelligible to strangers 36 months : vocabulary less than 100 words, no phrases, less than 75% speech intelligible to strangers 48 months : no conversational skills, poor comprehension of verbal commands
Absolute indications for referral No babbling, or pointing or other gesture by 12 months No single words by 16 months No 2 word spontaneous (not echolalic) phrases by 24 months ANY loss of ANY language or social skills at ANY age
Refer Refer to audiology to rule out hearing impairment Refer to Early Intervention (under 3 years) or school district (over age 3) (even if condition is only suspected, not confirmed) Refer concurrently to autism specialist for diagnostic evaluation
Services over age 3 years Autism one of 13 educational disability categories Autism became a separate educational disability category in 1990, states were required to use it in 1993, started getting used more widely in 1994
Program Recommendations 2007 AAP Clinical Guidance Report Begin program upon tentative diagnosis, do not wait for definitive diagnosis Active engagement of child at least 25 hours a week, 12 months of the year Low student-teacher ratio to allow sufficient 1:1 time and small group instruction Inclusion of family component/parent training
Program Recommendations 2007 AAP Clinical Guidance Report Promote opportunities for interaction with typical peers, if beneficial Measure and document progress, make changes in program as needed High degree of structure, predictable routine, visual schedules Implement strategies to allow generalization of skills
Program Recommendations 2007 AAP Clinical Guidance Report Include goals of functional communication, functional adaptive skills, appropriate social interaction, reduction of maladaptive behaviors, learning of traditional academic skills when appropriate
AAP Toolkit
CDC Resource Kits
Prep Questions on Autism
Prep 2008 Question 75 A 5 year old girl recently was diagnosed with an autistic disorder and mental retardation. Her parents are upset by her lack of progress in her special education program and seek your guidance in treating her autism. At a parent support group, they were told about the use of complementary and alternative medical approaches to therapy. They ask whether they should pursue these intervention. Of the following, your best response is to:
A. explain to the parents that alternative treatments have been demonstrated to be ineffective B. explain to the parents that they must consider the benefits, risks, and evidence regarding efficacy for each treatment C. refer the parents for psychological counseling to deal with their guilt feelings D. suggest the parents discuss the alternative treatments with the special education teachers E. tell the parents they should not expect much progress because their daughter has both mental retardation and autism
Answer question Prep 2008 75: B Complementary and alternative therapies (CAM) No control trials support the efficacy of: Vision therapy (eye exercises) Patterning (series of exercises promoted to enhance development) Sensory integration therapy (some children do benefit not a curative therapy) Hyperbaric oxygen therapy Chelation
DAN Doctors DAN: Defeat Autism now
PREP 2010 Item 75 During the health supervision visit for an 18 month old boy, his parents express concern that he is vocalizing but not saying any real words. He is holding a small piece of string that he moves back and forth repeatedly. When you call his name, he does not respond. You point to the light and say look, but he continues to look at the string with a sideways glance. You try to get him to look at you, but he avoids eye contact. Of the following, the most likely diagnosis is:
Answer Prep 2010 Item 75 A. Asperger disorder B. autistic disorder C. expressive/receptive language disorder D. obsessive-compulsive disorder E. Rett syndrome
Answer 2010 Item 75: B Autistic Neither a diagnosis of expressive language disorder or obsessive compulsive disorder would account for the impaired social engagement exhibited by the boy
PREP 2010 Item 139 A well-nourished, healthy child comes to your office for his 2 year health supervision visit. You find he has failed an autism-specific screening tool (MCHAT) completed by his parents while in the waiting room. Results of a previous audiology evaluation are normal. His head circumference and growth parameters are normal. Findings on a genera; physical exam are unremarkable, and the neurologic examination produces non-focal findings. Muscle mass, strength, and tone are within normal limits. His deep tendon reflexes are physiologic and symmetric. Of the following, the most appropriate next step is to:
Prep 2010 item 139 A. early intervention referral B genetics evaluation C. head magnetic resonance imaging D. metabolic evaluation E. sleep-deprived electroencephalography
Answer A. early intervention Out of the choices it s something can help child; Don t need a diagnosis to refer; MCHAT sensitivity of 0.85 and specificity of 0.93 Sensitivity measures the percentage of individuals correctly identified as having autism (85%) Specificity measures the percentage of individuals who are correctly identified as NOT having autism (93%)
References Office Screening and Early Identification of Children with Autism Neelkamal S. Soares, MDa,b, Dilip R. Patel, MDc,d,* Autism Spectrum Disorders: Clinical Features and Diagnosis Ahsan Nazeer, MDa,*, Mohammad Ghaziuddin, MD Identifying Infants and Young Children With Developmental Disorders in themedical Home: An Algorithm for Developmental Surveillance and Screening IDOI: 10.1542/peds.2006-1231Pediatrics 2006;118;405 Children With Special Needs Project Advisory Committee dentifyingoffice Screening and Early Identification of Children with Autism Neelkamal S. Soares, MDa,b, Dilip R. Patel, MDc,d,* Office Screening and Early Identification of Children with Autism Neelkamal S. Soares, MDa,b, Dilip R. Patel, MDc,d,*