ASD The Scope AUTISM REVIEW Features, Diagnosis, Treatment
Prevalence 1/150 For every 1000 children in primary care expect 6 with ASD 2004: 44% of PCP care for > 10 children with ASD Mean age of first ASD evaluation 48 months Mean age of first ASD diagnosis 61 months
Michael Reiff, MD Director Autism Spectrum Disorders Program Department of Pediatrics University of Minnesota reiff001@umn.edu
Risk Factors for ASD
Males (4:1) Monozygotic twins
– 60% for DSM-IV autistic disorder – 71% for Autism spectrum disorder – 92% broader phenotype of social and communication deficits Siblings 6-25%
Increasing maternal age Neurotoxin exposure during pregnancy including alcohol (FAS/ARND)
DSM DX Strictly behavioral
– Some signs by 3 y.o. – 3 Domains
Social understanding Communication/Language/Play Restrictive
Autistic disorder DSM
Social Understanding (must meet 2 or more criteria)
– Diminished eye contact, gestures – No appropriate friendships at child’s developmental level – Unable to share enjoyment – Lack of social and emotional exchange (reciprocity)
– No better explanation for symptoms
repetitive interests/routines/behaviors
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Autistic disorder DSM
Impaired Communication (must meet at least 1 criterion)
– – – – Language delays Unable to hold conversation Unusual use of language (atypical/stereotyped) Diminished imaginary play
Autistic disorder DSM - 3
Restrictive repetitive interests (must meet at least one criterion)
– – – – Narrow interests Insistence on sameness Motor mannerisms (hand flapping) Interest in parts of objects (spinning wheels instead of playing with the car)
Autistic Syndrome DSM
Total of at least 6 criteria including • At least 2 social criteria • At least 1 communication and 1 restricted/repetitive behavior criteria
Asperger Syndrome
Significant impairments in social, occupational, or other important areas of functioning. Restrictive repetitive interests present No significant general delay in communication Normal IQ, normal self help skills, and curiosity about the environment in childhood.
PDD NOS
‘Subthreshold' condition – some - but not all - features of autism – no specific guidelines for diagnosis – social skills less impaired than in classical autism
Autism Coexisting Conditions
50-75% with Mental Retardation
– IQ best predicator of outcome
5-10% with Rare disorders 10-30% with Epilepsy ?% with ADHD and other mental health diagnoses
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Autism/ PDD NOS/Asperger
The Many Pathways to Autism
NOS
Which of these children has autism?
Minor Physical Anomalies Essential vs Complex Autism
Miles et al Am J Med Genetics .135A :171:2005
260 children meeting criteria for autism
Essential 80% (206/260) lack physical findings
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Complex 20% 5% (13/260) microcephalic 16 % (41/260) with≥ 6 minor anomalies, measurement abnormalities, descriptive traits
<20%
>80%
Essential vs Complex Autism
Essential group More heritable
Higher sib recurrence More relatives with autism (20% vs 9%) Higher male to female ratio (6.5:1 vs 3.2:1)
Genetic Disorders 15q11-13 Deletions
– Prader-Willi (1/10,000) paternal contribution is lost or mutated – Angelman (1/15,000) maternal contribution is lost or mutated
Better outcome
Higher IQs Fewer seizures More prone to regressive onset (43% vs 23%)
Complex group Lower IQs More seizures More abnormal EEGs More brain anomalies by MRI All identifiable syndromes in this group
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Tuberous Sclerosis
Fragile X
Autism Mental Retardation Seizures
cortical tubers and periventricular calcification
Acne-like lesions Of adenoma sebaceum
Physical Characteristics: Behaviors:
Cognitive disability Autism Language delays/disorders ADHD
Ash leaf spot
What are the Medical Diagnostic Tools? Autistic Child or Child with Autism?
Direct Autism Evaluation • • • • • History Physical Examination Parent interview around autism - ADI Structured child observation - ADOS Any better explanation for findings than ASD?
What are the Medical Diagnostic Tools? Autistic Child or Child with Autism?
Direct Autism Evaluation History Physical Examination Parent interview around autism - ADI Structured child observation - ADOS Any better explanation for findings than ASD? Other Essentials
Assessment of • Daily functioning (adaptive behavior )- Vineland • Developmental level (DQ/IQ) • Behavioral / parenting concerns • Language and communication skills • Medical areas - neurologic, GI, rare disorders, nutritional status • Emotional psychological concerns - ADHD, depression, anxiety, OCD…
Autism outcome related to
• • • • • Age at diagnosis Ability to imitate Language and cognitive skills at 2 years old Cognitive and social interaction level at diagnosis Presence of significant developmental delays/mental retardation and atypical features at diagnosis
Clues to Outcome
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What is being treated?
Core Deficits Social understanding Communication Restrictive behaviors Associated Symptoms or Conditions Hyperactivity Aggression Medical problems Other
Autism treatment
Treatments
For Core Deficits Educational recommendations Behavioral/Naturalistic treatments Medical management Complementary and Alternative Medicine (CAM) Family support
Core Deficits
Joint attention Motor imitation Communication/Language Social Play
Joint Attention
Joint Attention
Shared attention between social partners related to objects or events Develops 9-12 months Infants link words with these objects or events Critical to age-appropriate language development Most treatment programs address this unless already present
Initiating attention with alternating gaze Spontaneous
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Imitation
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Communication Training
PECS – Picture Exchange Communication
Speech and Language Therapy
Should be considered in all children with ASD Language is just a part of communication Pointing is one of the best indicators that a child understands communication Some children will not learn spoken language because of apraxia or low cognitive functioning
Provides a way to communicate teaches how to spontaneously initiate a functional communicative exchange Does not interfere with oral language development
Developing Imaginative Play
Related to language abilities Requires awareness of others and theory of mind Treatment strategies – Educational strategies stress
pretend play interactional play with peers reciprocal social communication
Treatments For Core Deficits
For Core Deficits Educational recommendations Behavioral treatments Medical management Complementary and Alternative Medicine (CAM) Family support
– Play scaffolding with an adult
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Educational Approaches
Educating Children with Autism 2001: Catherine Lord and James P. McGee
Educational Approaches
Characteristics of Effective School Interventions Enter system as soon as ASD is seriously considered Intensive instruction for a minimum of 25 hours/week, with full year programming – Individual therapies – Developmentally appropriate small group instruction Sufficient amounts of 1:1 and very small group instruction to meet individual goals Inclusion of family including parent training No more than 2 ASD students per teacher Some instruction with typically developing peers
At request of U.S. Office of Special Education programs. Early intervention, preschool and school programs Children with any ASD, regardless of level of severity or functioning should be eligible for special education services within the category of autistic spectrum disorders
Treatments
For Core Deficits Educational recommendations Behavioral/Naturalistic treatments Medical management Complementary and Alternative Medicine (CAM) Family support
APPROACHES TO AUTISM TREATMENT
Continuum from Discrete Trial to Developmental Model to Totally Naturalistic Instruction / Therapy
Lovaas UCLA Model Carbonne’s Verbal Behavior Schoepler’s TEACCH Greenspan and Wieder’s Developmental Individual Difference Gutstein’s RDI
Koegel & Schriebman’s Rogers’ Pivotal Response Denver Model Training
Prizant and Whetherby’s SCERTS
Discrete Trial
Strict Behaviorists
Hybrid Approaches
Naturalistic
Traditional Developmental Cognitivists
Behavioral Therapies What is Applied Behavior Analysis (ABA)?
Interventions based on operant conditioning. Seeks to
– improve social and language skills – minimize outbursts of unwanted behavior
What are Naturalistic therapies?
Not all are discrete trial (DTT)
– DTT skills taught by massed trials – Conducted outside of natural context – Artificial reinforcers used
– Incorporate natural situations in which the child is already interacting – rewards the child through natural rewards and creating opportunities to do more of what the child already enjoys doing
Builds on skills – hello when greeted
conversation skills
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Treatment Programs
Which is the most appropriate ? Consider ABA when: A child is severely cognitively limited When child lacks basic joint attention and imitation and basic communication skills When the natural environment is too distracting When it is essential to concentrate on some aspects of a complex task and not others
Treatment Programs
Which is the most appropriate ? Consider a Naturalistic Behavior Therapy when:
• Components of a skill can be taught in the course of normal daily routines (e.g. meals, toy play, bathing, recreational activities) •If initial components of a difficult-to-learn skill have already been acquired (e.g. using a discrete trial approach) •Only if the therapist is sufficiently skilled to recognize teachable opportunities in the context of on-going activities
Choosing an Approach
Overlap among different approaches Most treatment programs are community based and eclectic ABA programs (25-30 hrs/wk) compared with equally intensive eclectic programs ABA programs significantly more effective Additional studies needed
What does behavior therapy do?
Finding: Between birth and 14 months 59% of children with autism (6% of typically developing children) have brain overgrowth (>2 SD)
Courchesne et al JAMA 290:337.2003
Too Many Connections? Neurologic Pruning
Complex Functions Vulnerable to Impaired Connectivity
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Social engagement and Salience
Treatments
For Core Deficits Educational recommendations Behavioral treatments Medical management Complementary and Alternative Medicine (CAM) Family support
Accepted coexisting (comorbid) conditions
(rough estimates)
Areas of active medical interest and research
Behavioral Exacerbations? Think Medical First
Seizures Tic Disorders ADHD Affective disorders
Depression/anxiety
Up to 25% ~ 9% 30-75% 25-40%
Dental Sleep GI GERDS Headaches/Pain
Medication Approach by Target Behaviors
Symptom removal – Not cure
Target symptom Aggression, agitation, irritability Medication Alpha-adrenergic agonists, Neuroleptics Mood stabilizers SSRIs, Alpha-adrenergic agonists Stimulants, Alpha-adrenergic agonists Neuroleptics SSRIs, Mood stabilizers Neuroleptics, ?SSRIs SSRIs, Alpha-adrenergic agonists ,Buspirone Melatonin,Antihistamines,Trazadone Tricyclic antidepressants
The Essential Ingredients
Coordinated Interventions and Family Support
Repetitive/impulsive behavior Hyperactivity/Disruptive behavior
Affective instability Social withdrawal Anxiety, hyperarousal
Insomnia
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ASD Special Needs Dental concerns
Autism Core Features Impacting on Dental Visits Social
– Deficit giving or reading social cues – Discomfort/anxiety in new social situations – Difficulty establishing intrapersonal comfort levels
Elements of ASD complicating routine dental care Lack of understanding
– Adult in a white coat, looks in mouth and uses strange equipment – Being expected to lie on a chair with a large light positioned on their face – Not understanding the importance of dental procedures or hygiene
Communication
– May need visuals for understanding visit and expressing discomfort/distress
Restrictive Repetitive Behaviors Narrow Interests/ Need for sameness
– – – – Predictability of routines Habituating routines (practice visits) May need to establish rituals – chair routines, counting etc Sensory sensitivities – cold, heat, noise
Sensory
– someone putting cold instruments into their mouth can be alarming and painful. – noise of the drills – taste of the mouthwash or the paste used.
Invasion of personal space
Possible life skills predictors for uncooperative behavior in children with autism
Possible medical history predictors for uncooperative behavior in children with autism
Pediatric Dentistry 29:5; Sept Oct 2007
Pediatric Dentistry 29:5; Sept Oct 2007
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Preparation tips for parents Discuss visit as early as possible. Pre-visit tour and/or picture story Suggest dental team adaptations Book a double time slot Use social stories/ story books Help in understanding time limit of visits. Bring comforters and distracters Does child have light and noise sensitivities?
– Sunglasses for bright lights – Earphones with +/- music for sounds
Preparation tips dentists
Schedule visit when the office is the quietest Let the parent be the child’s advocate
– Ask parent for stressors and motivators – Let parent end the visit if its too much for child
Sensory integration approach
– Weighted x-ray blanket
Upright dental chair
– If children become anxious when reclining
Preparation tips dentists Ask parent how child will likely react in a new situation Suggest parents prepare their child in advance
– Schedule a practice visit – Prepare a social story
Tools
Tolerance rating scales
Child points to the number representing current discomfort level
Ask parents about
– sights, sounds, and smells that might cause problem behaviors – behavioral techniques to help their child remain calm and cooperate
Allow parents to stay with child Encourage parents to bring comfort items from home
Tools
Break Boards
Communication books and social strips
Helps children express the need to take a break during visit can be a single card or a board with several visual symbols can reduce anxiety and negative behavior.
These help children to communicate without words. In book or strip format, they include picture cards with a variety of emotions and objects
Stop !!
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Preparation tips office staff Are there appropriate toys and activities? Minimize waiting time Remove unnecessary equipment from treatment rooms. Keep needed equipment out of view during the initial calming down stage Eliminate or reduce noises, smells, and sensations that trigger problem behaviors Avoid problem textures – paper gowns, etc. If child is known to spit, wear gowns, gloves, and goggles. Extra time and/or extra staff for difficult procedures Prepare for unexpected biting, hitting, kicking, screaming.
Use Behavioral Techniques to Improve Cooperation
Give clear instructions and use visual cues. Offer rewards or positive feedback for good behavior Implement desensitization - practice visit, pictures of tools, etc Model the desired behavior – eg demonstrate on doll Offer distractions – music, a favorite video…
– most effective when contingent on cooperative behavior.
During procedures
Prevent Escape With Restraints When Necessary
Child may be very sensitive to drill noise or cleaner – use extra distractions Use dental mouth props for protection and fostering cooperation Be careful when inspecting teeth - the child may bite. General anesthesia
– Opportunity for a thorough examination and preventive interventions. – Coordinate with other surgical procedures
A child might try to escape by hitting, biting, spitting, throwing equipment, or running away Allowing escape reinforces it increased frequency, intensity, or duration. Parents/dentists teach the child to request breaks or to indicate pain, discomfort, restlessness, or anxiety
– Raise hand – Break board
Reinforce appropriate behaviors with breaks Use restraints as a last resort
– some children find pressure comforting – Experienced parents may prefer to restrain the child themselves
For ongoing care, keep in mind
Carries and/or infections – may present only as a change in behavior – may go unnoticed because of child’s high pain threshold. Food over-selectivity usually more behavioral or sensory than an indication of dental pathology GER may cause increased tooth erosion. Consider tooth sealants on baby teeth to prevent decay and avoid the resulting fillings
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To promote good dental hygiene, advise parents to
Model brushing with favorite action figures Ask the child’s OT to target brushing and flossing as a goal.
– Floss picks with silky or glide floss are easiest to use.
Is There an Autism Epidemic? Is Autism on the Rise?
Place pictures with tooth brushing steps in the bathroom. Use a positive reward system to promote brushing and flossing. Use daily topical fluoride gels or rinses. Schedule frequent preventive recall appointments
From Vaccines?
New Diagnostic Criteria?
New DSM criteria for Autism/PDD 1994
MMR licensed and introduced in US 1971
From Thimerisol (ethyl mercury)?
Is there an epidemic? Incidence per 10,000 persons
5 4.5 4 3.5 3 2.5 2 1.5 1 0.5 0 1970 1975 1980 1985 1990 1995 2000
More cases than in the past? YES Is the increase attributable to change in real risk?
ages 2-4 ages 5-6 ages 7-9
– Can’t rule out changes in diagnosis or that we are diagnosing “better” – Can’t rule in increases in real risk because etiology and all the risk factors are not known
•Removal of thimerosal-containing vaccines in 1992 in Denmark
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