An Approach to the Child with an Autism Spectrum Disorder

1. An Approach to the Child with an Autism Spectrum Disorder A. A. Golombek, MD Attending, Seattle Children’s Hospital Consulting Psychiatrist, PAL Program PAL Conference

2. Disclosures This talk includes the presentation of off-label medications indicated by an asterisk (*) This talk is designed for primary care providers. It does not provide medical advice for individual patients and is not a substitute for care. Financial disclosures: None. PAL Conference

3. Conceptual Foundation Unusual group of children described by Kanner in 1943: They lacked the ability or interest to “relate themselves in the ordinary way to people and situations.” (Frith, 2003) Language was a struggle: they misused pronouns, were excessively literal, limited to mimicry, or mute. PAL Conference

4. Change was a trial: they demonstrated an intense desire and need for sameness, whether in behavior, interests, or events in a day. They struggled to see the forest form the trees, “to experience wholes without full attention to constituent parts.” (Happe, 2005) They reacted unusually to physical sensation, either too little or too much. (Volkmar, Klin, 2005) PAL Conference

5. Theory of Mind Realization that each person has individual thoughts. Typically develops around the mental age of 5. In children with autism, develops later or not at all. Examined through tests of false belief. (Frith, 2003) PAL Conference

6. Theory of Weak Central Coherence Understanding general concepts or principles is impaired. Strength is in focus and memory of specific situations. May be linked to executive functions. Strongly influences learning style. (Frith, 2003) PAL Conference

7. Shared Joint Attention Impairments in ability of coordinating another’s attention with one’s one. Likely one of the foundations necessary for socialization, language formation, and learning. (Mundy, Burnette, 2005) PAL Conference

8. Prevalence Increasing from 4.7/10,000 from 1966 to 1993 to 12.7/10,000 from 1994 to 2000. (Frombonne, 2005) As high as 2.64% in a recent population-based sample. (Kim, et al, 2011) Some of increase likely due to increased awareness and broader phenotype (from which most of increase arises.) (Frombonne, 2005) PAL Conference

9. Causes of Autism Autism is heterogeneous disorder. Thus, it is unlikely that there will be a single cause or a single cure. Possible contributors include genetic factors, neurotransmitters, metabolic disorders, and mitochondrial abnormalities, among others. Evidence for a causal role for MMR vaccines or mercury levels is lacking.(Hussain, 2007) PAL Conference

10. When to Screen • Per the American Academy of Pediatrics: • During well child checkups, especially at 18 or 24 months. • If there is a concern by a parent, care-giver or pediatrician for social development or communication. • If there is a sibling with autism, which greatly increases the risk. (Johnson, 2007) PAL Conference

11. Screening Questions Does child meet the gaze of others? Does her or she mimic expressions or smile socially? Does child engage when parents talk to them or try to play with them? Does he or she orient to his or her name by 1 year? Does he or she point to things or bring things to share? (Zwaigenbaum, 2005) PAL Conference

12. Comprehensive Assessment Autism Communication and Socialization Deficits Cognition, including Executive Function Adaptive Function and Readiness for the Future Sensory and Motor Abnormalities Medical and Neurological Illness Psychiatric Concerns PAL Conference

13. Diagnosing Autism In the primary care system: DSM criteria-IV-TR. May supplement with a screening or assessment tool. 16-18 months: Modified Checklist for Autism in Toddlers (M-CHAT), 5-10 minute parent questionnaire, Sens/Spec: 0.85/0.93, at www.firstsigns.org (Search “M-CHAT” then “Scoring M-CHAT” 4-11 years: The Childhood Autism Spectrum Test (CAST), 10 minute parent questionnaire, Sens/Spec: 0.88/0.97, at www.autismresearchcentre.com/tests 12-15 years: The Adolescent Autism Spectrum Quotient (AQ), 15 minute parent questionnaire, Sens/Spec: 0.89/1.0, at www.autismresearchcentre.com/tests (Johnson, 2007) In Autism centers: Autism Diagnostic Interview-Revised and Observation Scale (ADI-R, ADOS) may be used. Especially helpful for children who are less than 2 years old or have intellectual disabilities. PAL Conference

14. From the DSM-IV-TR, 2000 6 symptoms in impairments in social interactions, language and repetitive interests or behavior. Hallmark’s of Rett’s Disorder: Apparently normal prenatal, head circumference, psychomotor development until 5 months of age. Deceleration of head growth between 5 and 48 months. Loss of purposeful hand skills and development of stereotyped hand movements (hand-wringing or hand-washing). Poorly coordinated gait and trunk movements. Severely impaired language and severe psychomotor retardation. Loss of social engagement. Hallmark’s of Child Disintegrative Disorder: Apparent normal development until the age of 2 years. Loss of skills (before age 10) in language, social skills or adaptive function, play, bowel or bladder control, or motor skills (2 or more sx.) Impairments in social interactions, language, and repetitive interests or behavior (2 or more sx.) (DSM-IV-TR, 2000) PAL Conference

15. Qualitative Impairment in Social Interaction (at least 2 sx) 1. Marked impairment in nonverbal behaviors (gaze, posture, expression.) 2. Failure to develop peer relationships appropriate to developmental level. 3. Lack of spontaneous seeking to share enjoyment, interests, or achievements with others (by pointing, bringing, showing objects of interest.) 4. Lack of social or emotional reciprocity. (DSM-IV-TR, 2000) PAL Conference

16. Qualitative Impairment in Communication (at least 1 sx) 1. Delay in or lack of development of spoken language without compensation. 2. Marked impairment in the ability to initiate or sustain conversation. 3. Stereotyped, repetitive, or idiosyncratic use of language. 4. Lack of varied, spontaneous make-believe or social imitative play appropriate to level. (DSM-IV-TR, 2000) PAL Conference

17. Restricted, Repetitive, Stereotyped Behavior, Interests, and Activities (at least 1 sx) 1. encompassing preoccupation with stereotyped or restricted patterns of interest abnormal in intensity or focus. 2. Apparently inflexible adherence to specific, non-functioning routines or rituals. 3. Stereotyped and repetitive motor mannerisms (hand flapping.) 4. Persistent preoccupation with parts of objects. (DSM-IV-TR, 2000) PAL Conference

18. Asperger’s Disorder Qualitative impairment in social interaction (at least 2 sx.) Restricted, repetitive behaviors (at least 1 sx.) No delay in language (single words by 2, phrases by 3.) No cognitive delays or delays in adaptive function. Still causes significant impairment in function.(DSM-IV-TR, 2000) PAL Conference

19. Pervasive Developmental Disorder (PDD) NOS Severe and pervasive impairment in the development of reciprocal social interaction associated with impairment in verbal or nonverbal communication skills or the presence of stereotyped behaviors, interests, or activities. (DSM-IV-TR, 2000) PAL Conference

20. Wyoming Resources Wyoming Department of Developmental Disabilities (http://wdh.state.wy.us/DDD/index.html) Wyoming Parent Information Resource (PIRC) for assistance raising children with disabilities: Education Network: http://www.npen.net (307-684-7441) Information Calendar: http://www.wpic.org (307-684-2277) PAL Conference

21. Treatment for Autism No medication to target core deficits. No method of behavioral intervention with success > 50-70%. (Schreibman, Ingersoll, 2005) However, early and intense intervention has been shown to modify the course of autism (Faja, Dawson, 2006) US National Research Council’s Principles for Effective Intervention: early; intense (25 hrs/wk); repeated, planned, brief sessions; 1:1 or small group; parent involvement and training; and mechanisms to evaluate and modify progress. (Myers, 2007) PAL Conference

22. Applied Behavioral Analysis (ABA) Skills learned through Prompting, shaping, reinforcement, and repetition. Emphasis on functional routines taught by breaking tasks down into simple and discrete steps, then “chaining” them together. (Arick et al, 2005) Most successful programs draw from this approach. PAL Conference

23. Communication and Socialization Addressing deficits is key to improving function and prognosis. Always consider when addressing maladaptive behavior. Speech and Language evaluation (including expressive and receptive language, processing speed, and for children with suspected ASD, social or pragmatic language skills.) PAL Conference

24. Speech & Language Interventions For non-verbal children, Picture Exchange Communication System or sign language may help. Simplify language. Use short sentences. Avoid nuance, sarcasm, double-meanings, non-verbal gestures. Pair verbal instructions with visual aides. Don’t confuse the child with affect: be calm and clear. Social stories (cartoons that rehearse social situations.) Role-playing with concrete problem-solving (such as, “When I don’t want to do something, I will tell my teacher.) Social skills groups. PAL Conference

25. Cognition and Executive Function In ASD prevalence of Intellectual Disability (ID) ranges from 70-80% to 22-52%. Intellectual ability is a strong predictor of prognosis. (Shea, Mesibov, 2005) Executive function skills are often impaired. PAL Conference

26. Strategies to Improve Executive Function Simplify tasks into discrete, concrete steps. Usual visual aids (pictures, schedules, check-off lists.) Use hand’s on learning (see one, do one, repeat as necessary) Prepare for transitions and new experiences. Decrease distractions. Decrease stressors. Coordinate assignments. Consider assessment for ADHD symptoms and treatment if warranted. Challenges should be a good match for abilities. PAL Conference

27. Adaptive Function Often lags behind cognitive function. May facilitate additional services, especially if cognitive deficits are insufficient. Need to incorporate adaptive functions as goals of education. (Lord, Corsello, 2005) PAL Conference

28. Adaptive Issues in Life Most individuals with autism do not live independently as adults, but live with family or in supportive environments. (Howlin, 2005) Up to 75% of adults with any disability are unemployed despite wanting to work, despite programs that demonstrate even very low functioning individuals can work. (Gerhardt, 2005) Consider sheltered facilities, work coaches. Educational Mandates: Federal law mandates assistance with transition planning. May start at as early as 14 year old, but no later than 16. (Gerhardt, 2005) PAL Conference

29. Sensory or Motor Problems Sensory sensitivities (or lack thereof) may provoke maladaptive behaviors. Unfortunately, there is a paucity of evidence for methods that attempt to address primary deficit. (Baranek et al, 2005) Consultation with an Occupational Therapist can help. Practical Solutions: Sensitive to noise? Consider ear muffs or access to a quiet room. Scratchy tag? Remove it Problematic behaviors (chewing, scratching self)? Consider a substitute activity and try to determine what triggers and reinforces the behavior. PAL Conference

30. Medical Evaluation Guided by clinical presentation & symptoms including loss of skills, focal neurological findings, family history, etc. Check vision and hearing. Consider lead and Fragile X if Intellectual Disability is suspected. Ensure child receives normal medical care including dental care. Always assess for pain (ear aches, dental pain, stomach aches,etc) especially when there is a change in behavior. Gastrointestinal and sleep issues are common. Not routinely recommend: Celiac antibodies, allergies to gluten, casein, molds; vitamin and trace element analysis, and intestinal permeability studies or stool analysis. (Filipek, 2005) PAL Conference

31. Neurological Evaluation Always consider if there is a loss of previously acquired skills. Consider EEG if seizures. Seizures are present in 1/3 of individuals with autism. Peak onset is before 5 years old and between 10 and 12 years old. Function in ASD may improve significantly with treatment of seizures. (Minshew et al, 2005) PAL Conference

32. Psychiatric Disorders in Children with ASD Paucity of systematic studies of incidence, but estimates range from 4-58% Anxiety & Depression most common (up to 1/3) Similarly, deficits in executive function and attention common. No difference in prevalence of schizophrenia. (Howlin, 2005) PAL Conference

33. Diagnostic Difficulties Under-reporting of symptoms in children whose abilities to identify or communicate emotions, or understand abstract concepts are compromised. Some symptoms of psychiatric disorders can also be seen with ASD including poor eye-contact, flat affect, social withdrawal, impoverished or concrete thought, unusual movements, and repetitive behavior. (Howlin, 2005) PAL Conference

34. Assessment: Rule out medical causes, especially if new-onset Pain. Medication side-effects: Disinhibition, akathisia, agitation, confusion, dystonias or dyskinesias, new-onset or increased seizures (remember that many psychotropic medications lower the seizure threshold.) Drug-drug interactions. Seizures. PAL Conference

35. Assessment: Consider Stressors Changes in care-givers, home, school, routines, and transitions. Lack of support, teasing, bullying, neglect, and abuse. Environmental conditions: too noisy, too chaotic, too crowded, etc. Inappropriate task demands: too demanding vs. boring. Inadequate communication. Inadequate coping skills. PAL Conference

36. Functional Analysis of Behavior Causes of behavior: If random, consider medical or neurological cause. If not random, it is likely an attempt to communicate or is somehow functional. Is the behavior an attempt to communicate? “I’m scared, mad, frustrated, irritated, sad, or overwhelmed!” Does the behavior result in a gain? Getting something one wants? Attention, a toy, or a treat? Getting out of a situation one finds unpleasant or overwhelming? Identify nature, timing, frequency, and duration of behavior. Establish baseline. Identify triggers and reinforcements. PAL Conference

37. Recommended Approach to Treatment When possible, identify a specific psychiatric diagnosis. When not possible, identify specific target symptoms. Obtained informed consent from the patient if they have capacity. If not, still provide developmentally appropriate explanations of risks, benefits, and alternatives. PAL Conference

38. Interventions • Educate individuals and care-givers. • Address stressors. • Increase communication skills. • Increase coping skills. • Behavior Therapy (modifying triggers and reinforcements) • Consider other evidence-based therapies as appropriate to disorder, symptom, and developmental abilities. • Consider medications in the context of the above interventions, but not as an isolated intervention. PAL Conference

39. Medication No medication to target core deficits of autism. Limited data. Differences in response: Expect decreased efficacy. Expect increased adverse effects (agitation, irritability, aggression, disinhibition, dystonias, dyskinesias, etc.) Start low and go slow, tracking response. Maximum doses less than or equal to for the typically developing. PAL Conference

40. Avoid pitfalls Track responses to intervention. Distinguish between a partial positive response and tolerance to adverse effects. If a given intervention isn’t working or seems to be making things worse, taper off and re-think the problem. Avoid unnecessary polypharmacy. Remember that problems are rarely solved by medications alone. PAL Conference

41. Treatment of Psychiatric Disorders Anxiety and Depression. Hyperactivity, Impulsivity, & Inattention. Repetitive behaviors. Aggression, self-injurious behavior and “irritability.” Sleep. PAL Conference

42. Anxiety Disorders Higher rates than typically developing children. May be provoked by changes in routine, new social situations, too difficult task demands, etc. May present as fearfulness, agitation, irritability, tantrums, self-injurious behavior, aggression or unusual fears, obsessive questioning, insistence on sameness, stereotypical movements. (Loveland, 2005) PAL Conference

43. In the higher-functioning adolescent, may be provoked by realization that he doesn’t fit in and present with exhaustion as he struggles to do so. Others may be in a constant state of physiological arousal. (Arick, 2005) PAL Conference

44. “was like a constant feeling of stage fright….Just imagine how you felt when you did something really anxiety provoking, such as your first public speaking engagement. Now imagine if you felt that way most of the time for no reason….It was like my brain was running at 200 miles an hour instead of 60 miles an hour.” (Grandin, 1992) PAL Conference

45. Depression Especially common in adolescence and among higher functioning. Provoked by being different, increasing academic and social demands. May present as decreased desire for social interaction, irritability, increased insistence on routines, disorganization, and inattention, and exhaustion trying to fit in. (Loveland, 2005) PAL Conference

46. Treatment: Therapy • Little research on therapy for anxiety or depression in children with ASD. • Always consider evidence-based therapy for typically children, but modified to a child’s developmental level. • For anxiety and depression, Cognitive Behavior Therapy has the best support. PAL Conference

47. Treatment: Medications SSRI’s: limited studies to date, and not targeted to mood disorders. May have increased rates of SSRI-activation: hyperactivity, restlessness, agitation, elation, irritability, and insomnia, especially in the young and at higher doses. (Scahill, Martin, 2005) Thus, start very low, go slowly, and monitor response carefully. PAL Conference

48. Hyperactivity, Impulsivity, and Inattention May be present in 1/3 or more of children with autism: Screening of 487 non-clinical children @ 50% had difficulty concentrating, short attention span. @ 40% were squirmy/wiggly/fidgety. @ 30-40% were overactive or had too much energy. (Lecavalier, 2006) PAL Conference

49. Strategies to Improve Executive Function • Simplify tasks into discrete, concrete steps. • Usual visual aids (pictures, schedules, check-off lists.) • Use hand’s on learning (see one, do one, repeat as necessary.) • Prepare for transitions and new experiences. • Decrease distractions. • Decrease stressors. • Coordinate assignments. • Make sure challenges are a good match for abilities. PAL Conference

50. Medication Options: RUPP Study on Methylphenidate Autism Network Research Units of Pediatric Psychopharmacology (RUPP) 2005: randomized, double-blind, placebo-controlled crossover trial of methylphenidate with 72 children with Autism and ADHD symptoms. Methylphenidate doses of 0.125, 0.250, and 0.500 mg/kg, given three times a day. (RUPP, 2005) PAL Conference