WHAT TO LOOK FOR ERIC TRIDAS, MD, FAAP Young Children with Autism Spectrum Disorder

Disclosures Dr. Tridas is a speaker for:  Eli Lilly  Pfizer Dr. Tridas is a consultant for:  Eli Lilly  Pfizer Dr. Tridas has done research for:  Eli Lilly

AAP 2006 Recommendations AAP recommends developmental surveillance be performed at every preventative visit (family history) A screening tool be used at 9,18, 30 month visit(24 mo can substitute for 30 mo) If screen is positive, refer to medical specialist and Early Steps or Child Find Pediatrics, July 2006 and reaffirmed 2009

AAP Recommendations AAP recommends a specific autism screening tool at the 18 month visit and then again at the 24 month visit (to pick up those who might have regressed) Pediatrics, July 2006 and reaffirmed nd edition of autism tool kit released 2012

Why Screen?

Federal Law Individuals with Disabilities Education Act (IDEA) amended in 1997 & 2004 Mandates early identification and intervention for developmental disabilities

Developmental Disabilities 17% of children have a developmental disability 2% have a severe disability At risk population is growing

Autism Prevalence

Why Screen? 30-40%parents volunteer concern without prompting (Glascoe, Pediatrics,1995) Low identification rate by clinical judgment  <30%(Palfrey, 87) Pediatricians are well trained to identify delays in certain areas, but not others.

Parental Concern About Development 1/3 of parents of children with an ASD noticed a problem before their child’s first birthday, and 80% saw problems by 24 months. 3 ½ years: Average age of diagnosis of ASD 5 ½ years: Average age of diagnosis of ASD for children from a minority background

Why Screen? Early intervention make a difference  University of Washington months study using Early Start Denver Model vs. community care  IQ points, 18 vs. 4  Receptive language 18 vs. 10 and socialization Geraldine Dawson, et. al. Pediatrics Vol. 125 No, 1 January 1, 2010 pp. e17-e23

ASD Siblings Outcomes at age 3  61% Unaffected  19% ASD diagnosis  20% Higher symptom severity and or lower cognitive scores than low-risk controls Geraldine Dawson, et. al. Pediatrics Vol. 125 No, 1 January 1, 2010 pp. e17-e23

DEFINITION Autistic Disorders

Autism: A Spectrum Disorder Symptoms present in a wide variety of combinations.  Any combination of the behaviors  Any degree of severity

ASA Definition Autism is a complex developmental disability that typically appears during the first three years of life and affects a person’s ability to communicate and interact with others. Autism is defined by a certain set of behaviors and is a "spectrum disorder" that affects individuals differently and to varying degrees. There is no known single cause for autism, but increased awareness and funding can help families today

PDD - DSM IV Criteria Behaviorally defined neurological disorder Severely incapacitating Life-long Appears during the first 3 years of life Areas of impact  Qualitative impairment in social interaction  Qualitative impairment in communication  Restricted repetitive and stereotyped patterns of behavior, interests and activities

Autism Spectrum Disorder – DSM 5 A. Persistent deficits in social communication and social interaction across multiple contexts B. Restricted, repetitive patterns of behavior, interests, or activities C. Symptoms must be present in the early developmental period (first 3 years of life) D. Symptoms cause clinically significant impairment in social, occupational or other areas of functioning E. These disturbances are not better explained by an intellectual disability

Deficits in Social Communication/Interaction 1. Deficits in social-emotional reciprocity  Abnormal social approach and failure of normal back-and- forth conversation  Reduced sharing interests, emotions or affect  Failure to initiate or respond to social interactions

Deficits in Social Communication/Interaction 2. Deficits in nonverbal communicative behaviors used for social interaction  Poorly integrated verbal and nonverbal communication  Abnormalities in eye contact and body language or deficits in understanding gestures  Total lack of facial expression and nonverbal communication

Deficits in Social Communication/Interaction 3. Deficit in developing, maintaining and understanding relationships  Difficulty adjusting behavior to suit various social contexts  Difficulties in sharing imaginative play or making friends  Absence of interest in peers

Joint Attention: Definition Ability to coordinate attention between an interesting object or event and another person in social context  Use of eye contact and pointing for the purpose of sharing experiences with others  9 months: will look when others point or say “look”  12 months: will get others attention by pointing, looking and/or verbalizing (protoimperative pointing) Will bring toys to show to adults

Joint Attention: Milestones 10 mos – follows a point 12 mos – points to request 14 mos – points to comment

Theory of Mind Ability to attribute or infer the full range of mental states to oneself and others  Beliefs, desires, intentions, imagination, emotions, etc. To be able to reflect on the contents of one’s own and other’s minds

Restricted-Repetitive Patterns of Behavior 1. Stereotyped or repetitive motor movements, use of objects or speech  Lining up toys  Flipping objects  Echolalia  Idiosyncratic phrases  Simple motor stereotypies

Restricted-Repetitive Patterns of Behavior 2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behaviors  Extreme distress at small changes  Difficulties with transitions  Rigid thinking patterns  Greeting rituals  Same food or same route daily.

Restricted-Repetitive Patterns of Behavior 3. Highly restricted, fixated interests that are abnormal in intensity or focus  Strong attachment to or preoccupation with unusual objects  Excessively circumscribed or perseverative interests

Restricted-Repetitive Patterns of Behavior 4. Hyper or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment  Apparent indifference to pain/temperature  Adverse response to specific sounds or textures  Excessive smelling or touching of objects  Visual fascination with light or movement

Changes in DSM – 5 Delete the term “Pervasive Developmental Disorders”  Symptoms are not pervasive – they are specific S  Social-communication  Restricted, repetitive behaviors/fixated interests  Overuse of PDD-NOS leads to diagnostic confusion and overdiagnosis  Overlap of PDD-NOS and Asperger disorder Recommend new diagnostic category: “Autism Spectrum Disorder” Walter E. Kaufmann, M.D., Boston Children’s Hospital, Harvard Medical School (2012)

Changes in DSM – 5 Deletion of Rett Syndrome as a specific ASD  Rett will be removed as a separate disorder  ASD are defined by behaviors, not etiologies.  Patients with Rett Syndrome who have autistic symptoms can still be described as having ASD “with known genetic or medical condition” to indicate symptoms are related to Rett. Deletion of Childhood Disintegrative Disorder  Developmental regression in ASD is variable  Timing and nature of the loss of skills  Rarity of CDD diagnosis makes systematic evaluation difficult Walter E. Kaufmann, M.D., Boston Children’s Hospital, Harvard Medical School (2012)

Changes in DSM – 5 Elimination of Asperger Disorder  There is little difference from autism  DSM-IV criteria do not match the cases described by Asperger  No clinical or research evidence for separation of Asperger disorder from autism (High functioning autism = Asperger dx)  Diagnostic biases apparent,  High SES, Caucasian males = Asperger dx,  Low SES, non-Caucasian populations = PDD-NOS diagnosis 1 1 Site differences in CDC surveillance data Walter E. Kaufmann, M.D., Boston Children’s Hospital, Harvard Medical School (2012)

Changes in DSM – 5 Merging of ASDs into a Single Diagnosis  Autism Spectrum Disorders  Autism  Asperger  PDD NOS  A single spectrum better reflects the symptom presentation, time-course and response to treatment  Separation of ASD from typical development is reliable & valid; separation of disorders within the spectrum is not  Many states provide services only for dx of autism, not PDD- NOS or Asperger disorder Walter E. Kaufmann, M.D., Boston Children’s Hospital, Harvard Medical School (2012)

Changes in DSM – 5 Single Spectrum but Significant Individual Variability  Severity of ASD symptoms  Pattern of onset and clinical course  Etiologic factors  Cognitive abilities (IQ)  Associated conditions Walter E. Kaufmann, M.D., Boston Children’s Hospital, Harvard Medical School (2012)

Early signs of ASD

Parent’s Concerns 18 mo/o: Parental awareness 24 mo/o: Seeking professional help  50% were told not to worry by primary care MD 4 years: Interval of time from initial awareness and definitive diagnosis Early parental concern should lead to further investigations

Early Signs of ASD Aberrant social skill development is the hallmark of autism  Poor eye contact – aloofness  Failure to orient to name  Failure to use gestures to point or show  Lack of interactive play  Lack of interest in peers Combined language and social skills delays Regression in language or social milestones

Red Flags: Communication No babbling by 12 months No pointing by 12 months No single words by 16 months No 2-word spontaneous phrases by 24 months Speaks with abnormal rhythm or tone Can’t start a conversation or keep it going May repeat certain words or phrases but doesn’t use them appropriately Loses ability to say words

Red Flags: Social Skills No smiling by 6 months No imitation facial expressions by 9 months Fails to respond to own name at 12 months Has poor eye contact Appears not to hear you Resists cuddling and holding Lack of showing Appears unaware of other’s feelings Seems to prefer to play alone Retreats into “own” world

Red Flags: Behavior Performs repetitive movements: rocking, spinning, hand flapping Develops specific routines or rituals Becomes disturbed with slight changes in routines or rituals Moves constantly Fascinated with parts of objects May be unusually sensitive to light, noise, or touching

Diagnosis of ASD

AAP Toolkit

Detection of ASD Level One  Routine developmental surveillance (pediatrics, childcare, community providers) Level Two  Screening for ASD (ASD specific tools)  Lead screening; hearing Level Three  Formal evaluation and diagnosis of ASD  Clinical: Developmental/behavioral pediatrician, psychiatrist, neurologist, psychologist  IDEA (Part B and Part C) A Mieres, K Armstrong - University of South Florida

Screening process Well-child checkup  Developmental milestones at 9, 18, 24, 30 months (AAP Guidelines, 2008)  Developmental surveillance tools, e.g. Ages and Stages; PEDI  Hearing screening (birth; as needed)  ASD specific tool at 18, 24 months  MCHAT A Mieres, K Armstrong - University of South Florida

Screeners Specific to ASD ASD Specific Screeners  Checklist for Autism in Toddlers (CHAT)  Modified Checklist for Autism in Toddlers (M-CHAT)  Social Communication Questionnaire (SCQ)  Childhood Asperger’s Syndrome Test (CAST) A Mieres, K Armstrong - University of South Florida

Steps in Diagnosis Surveillance  The art of listening during well child checkup Screening  Even if there is no parental concern  General development  Autism specific Formal Evaluation

LEVEL 1 Surveillance

Surveillance Probes 6 months  Head Circumference (large)  Social smile  Siblings of autistic child 9 months  Head circumference  Reciprocal babbling  Looks at parent when they speak  AAP general developmental screening

Surveillance Probes 12 months  Head circumference  Follows when adult points  Responds to name  Waves “bye-bye”  Unusual Vocalizations  Inappropriate laughter 15 months  Head Circumference  Initiating pointing  Showing an interesting object  Word count  Play/favorite toys

Surveillance Probes 18 months  Head circumference  Hx. of regression  Universal ASD Screening  Pointing to show  Word count, two word phrases, echolalia  Pretend play 24 months  Universal ASD Screening (to detect regression after 18 months)  Regression  Language screening, echolalia, pop-up words

LEVEL 2 Screening

M-CHAT 1. Does your child enjoy being swung, bounced on your knee, etc.? 2. Does your child take an interest in other children? 3. Does your child like climbing on things, such as up stairs? 4. Does your child enjoy playing peek-a-boo/hide-and-seek? 5. Does your child ever pretend, for example, to talk on the phone or take care of dolls, or pretend other things? 6. Does your child ever use his/her index finger to point, to ask for something? 7. Does your child ever use his/her index finger to point, to indicate interest in something? 8. Can your child play properly with small toys (e.g. cars or bricks) without just mouthing, fiddling, or dropping them? 9. Does your child ever bring objects over to you (parent) to show you something? 10. Does your child look you in the eye for more than a second or two? ©1999 Diana Robins, Deborah Fein, & Marianne Barton

M-CHAT 12. Does your child ever seem oversensitive to noise? (e.g., plugging ears) 13. Does your child smile in response to your face or your smile? 14. Does your child imitate you? (e.g., you make a face-will your child imitate it?) 15. Does your child respond to his/her name when you call? 16. If you point at a toy across the room, does your child look at it? 17. Does your child walk? 18. Does your child look at things you are looking at? 19. Does your child make unusual finger movements near his/her face? 20. Does your child try to attract your attention to his/her own activity? 21. Have you ever wondered if your child is deaf? 22. Does your child understand what people say? 23. Does your child sometimes stare at nothing or wander with no purpose? 24. Does your child look at your face to check your reaction when faced with something unfamiliar? ©1999 Diana Robins, Deborah Fein, & Marianne Barton

Diagnostic Evaluation Level 3

The Developmental Web Developmental Profile Behavioral Profile Health Environment Educational & Developmental Environmental Behavioral & Cognitive Medical Academic–Occupational Social Interaction Health IMPAIRMENT

Components of ASD Diagnosis Hearing evaluation Developmental assessment  Levels of performance in developmental domains  ASD specific tools Developmental history  Address core features of ASD  Health history Speech and language  Form, content, and pragmatics

Specialized ASD Tools Caregiver report and observational measures  Autism Diagnostic Observation Schedule (ADOS)  Autism Diagnostic Interview (ADI)  Child Behavior Checklist (CBCL)  Child Autism Rating Scale (CARS)  Gilliam Autism Rating Scale (GARS-2) Caveat: Tools may not be useful for children under age 3 or children with no language

Domains of Development Motor Domain Daily Living Communication Domain Socialization

Motor Control Progression

Movement Patterns Progression AnteroposteriorLateralRotational

Language Communication Speech Language Fluency Voice Articulation Phonology Morphology Syntax Discourse Semantic Pragmatic Metalinguisti c

Language Milestones MUST REFER if these milestones are not reached  1 year – 1 word  2 years – 200 words – 2 word phrases  3 years – 300 words – 3 word phrases

Medical Work-up Audiologic & Speech/Language Evaluations Dysmorphisms  DNA studies for Fragile X Syndrome  High resolution karyotype  Angelman, Prader Willi and VCF Syndromes  Chromosomal microarrays Regression and/or focal neurological signs  EEG (Landau Kleffner Syndrome)  Organic and Aminoacid screen  MRI

Causes of ASD No single, identifiable cause Seems to be related to abnormalities in several areas of brain Environmental factors, e.g. viruses may trigger symptoms Structural (anatomic, cellular) Genetic component  Identical twins 60%  Siblings 10%  Other family members 2%

Management of ASD

MANAGEMENT Developmental Web

The Developmental Web Developmental Profile Behavioral Profile Health Environment Educational & Developmental Environmental Behavioral & Cognitive Medical Academic–Occupational Social – Emotional Health IMPAIRMENT

Educational Management REMEDIATION Weakness CIRCUMVENTION Strengths Volume Rate Technology Educational Therapy Speech/Language Therapy Occupational Therapy Physical Therapy

Psychological Management ADULT FOCUSED Behavioral Therapy CHILD FOCUSED Cognitive Therapy

Medical Management MEDICATION SURGERY

Environmental Management HOME SCHOOL

Evidence-base for ASD Interventions Interventions work best for:  Higher functioning children  Children with less severe behavioral symptoms  Children who begin intervention early (<60 months)  25 hours per week of active engagement  Intervention across natural settings  Multiple methods used

Goals of Management Maximize potential and minimize complications Parental support Improve affected developmental functions Decrease the behavioral symptoms Genetic counseling No single therapeutic intervention can achieve all goals of management

Educational Interventions

Educational Program Requirements Early Diagnosis Early Intervention Highly structured Skill oriented  Problem Behavior  Skill Deficits Address specific needs Individual Motivational System Data based program Environment  Structured  Organized  Distraction Free Consistency = Generalization Full day / Year round Multiple settings Coordinate with home program

Preschool Interventions in ASD Curriculum stresses  Paying attention to others  Imitating others  Verbal and non verbal communication  Ability to play and socially interact Predictable and routine Functional approach to problem behaviors Strategy for transition into regular Kindergarten Family involvement

Preschool interventions in ASD Speech and language therapy  Semantic and pragmatic skills training Positive social relationships including typically developing role models/playmates

School Interventions Curricula  TEACH – most influential  Bright Star  Higashi Alternative Communication  PECS  American Sign Language

Behavioral Interventions

Common Behavioral Interventions Applied Behavior Analysis  ABA leads to IBI  Lovaas

Applied Behavioral Analysis Analysis of :  Antecedent  Behavior  Consequences Leads to the development of a specific - intense behavior intervention program

Habilitative Therapies Speech and Language  Most important Occupational Therapy  Sensory Integration  Coordination Problems Physical Therapy

ERIC TRIDAS, MD Medical Management

Indications for Medical Intervention Severe symptoms of:  Sleep disturbance  Self injurious behavior  Agitation and/or aggression  Hyperactivity  Inattention  Stereotypes and perseveration  Withdrawal  Anxiety

Controversial Therapies

What To Look For If it sounds too good, it probably is Beware of the word NATURAL  It is simply marketing  Hemlock, arsenic, tobacco, marijuana are all natural Difference between safe and dangerous  Dose  Route of administration  Speed of administration

Evidenced Based Formulate a theory Design an experiment with control subjects Analyze the data Publish results Replicate findings Then it becomes the standard of care

Questions?