Autism autism spectrum disorder (ASD)

1. Autismautism spectrum disorder (ASD) Dr. Anne Zbaracki Parental presentation April 9,2014

2. Autism • Definition • Epidemiology • Diagnosis • Screening • Spectrum • Treatment • Local help • Potential causes (or not)

3. http://www.youtube.com/watch?v=YtvP5A5OHpU

4. Definition • From DSM V- biologically based neurodevelopment disorder characterized by impairments in two major domains • 1 deficits in social communication and social interaction • 2 restrictive repetitive patterns of behavior, interests, activities • Must be present in early development • Cause clinically significant impairment in social, occupational, or other important areas of current functioning • Severity 3 levels- requiring support, substantial support , very substantial support

5. Definition • ASD covers • Classic autism • Childhood disintegrative disorder • Pervasive developmental disorder–nos • Asperger

6. Epidemiology • Prevalence • 4 times more in males than females • Increased since 70’s, up to 1:50 • Sibling of ASD child, 7% if affected is female, 4% if male, >30% if 2 or more affected

7. Epidemiology • Associated conditions • Intellectual disability • Seizures • Genetic disorders • Tuberous sclerosis • Fragile X • Smith-Lemli-Opitz

8. Diagnosis • Like anything else need • Complete history • PE • Neurological exam Then, direct assessment of social, language, and cognitive development Parent interviews for concerns and behavior hx Structured observation of social and communicative behavior and play

9. Diagnosis • Hx- • Family hx, 3 generation since can be genetic • milestones, play skills, behavior, regression • Parental concerns, hearing, vision, speech/language • Communication behaviors, pointing, eye contact , response to name • Hx of repetitive, ritualized behaviors- hand flapping • Not tolerating change or transition • Self injury • Seizures • Eating (pica), sleep

10. Diagnosis • Language delay, mental retardation, fragile x, Rett, Angelman, Prader-Willi, Smith-Lemli-Opitz, Tuberous sclerosis, anxiety, OCD, extreme shyness, social phobia, mutism, mood disorders, schizophrenia, seizures, tic disorders

11. Diagnosis • Exam- will need extra time • Growth patterns, esp head circumference, early acceleration then stabilization • Ht/wt- low, high • Skin with Wood’s lamp- hypopigmented, tuberous sclerosis • Dysmorphic as in Fragile X, long face, large ears & testes or Angelman, ataxic gait, broad mouth • Muscle tone and reflexes

12. Diagnosis • PCP responsibility: listen to parents concerns and take them seriously • Refer for comprehensive specialty eval • Early intervention • Dept. of education • But don’t wait for the formal dx before doing something

13. Early diagnosis • Things the PCP can do while waiting for a formal dx • Temperaments, discuss what that is, how it’s a scale and determine where the child is. Resources at The Center for Parenting Education, Carey Temperament Scales • Socialization, supervised community play groups, development services • Language, picture books, ongoing description

14. Screening • CDC and AAP • ALARM • Autism is prevalent • 1:50 • Listen to parents • Early as 18mo, parents are concerned • Act early • Concerns, screen at 18 and 24 mo • Refer • Don’t delay • Monitor • Ongoing support and medical management

15. Screening • Early indicators • Reduced response to name • Reduced frequency looking at faces • Red flags • No babbling by 9 months • No pointing or gestures or lack of orientation to name by 12 months • No single words by 16 months • Lack of pretend or symbolic play by 18 months • No spontaneous or meaningful 2 word phrases by 24 months • Any loss of language or social skills

16. Screening • Indications • Delayed language/ communication, regression of social or language skills, parental concern • 1st stage screening • Id ASD from general population • Ex: CHAT, M-CHAT, social communication questionnaire • 2nd stage screening • ASD from other development disorders • Ex: PDD screening test II , screening tools for autism in 2yr olds

17. Differential Diagnosis • Global development delay/intellectual disability • Social communication disorder • no restrictive repetitive behaviors • Developmental language disorder • Normal socialization • Language-based learning disability • Normal socialization, intent to communicate • Hearing impairment • Normal reciprocal social interactions • Landau-Kleffner syndrome • Normal until 3-6 • Rett • Females, >18months • Severe early deprivation/ reactive attachment • Caregiver neglect, improve with appropriate care • Anxiety • Symptoms distressing • OCD • Symptoms distressing

18. spectrum • Classic autism • Childhood disintegrative disorder • Pervasive developmental disorder • Asperger

19. Spectrum • Impaired social communication and interaction • Social reciprocity • Unaware of other children, lack empathy, lack imitation • Joint attention • Seeking to share enjoyment, undemanding of attention • Nonverbal • Baby resists cuddling, avoid eye contact • Social relationships • Lack of friendships

20. Spectrum • Restricted and repetitive behaviors, interests , and activities • Stereotyped • Hand flapping, swaying, toe walking, self injurious • Sameness • Daily routines, routes • Restricted interests • Preoccupations, sensory

21. Treatment • Management • Behavioral and education interventions • Medications • Complementary and alternative therapies

22. Treatment • Management • Chronic condition, no cure, need to be individualized • Goals • Improve social functioning and play skills • Improve communication, functional and spontaneous • Improve adaptive skills • Decrease negative, nonfunctional behaviors • Promote academic function and cognition

23. Treatment • Treatment team • You • Developmental pediatrician, child neurologist, child psychiatrist • neuropsychologist • Geneticist, genetic counselor • Speech language pathologist • Occupational therapist • Audiologist • Social worker

24. Treatment • Proven aspects of education programs • High staff to student ration 1:1 or 1:2 • Individualized • Special expertise teachers • 25 hours a week of services • Fluid treatment • Curriculum based on attention, imitation, communication, play, social interaction • Predictable, structured • Transition planning • Family involvement

25. Treatment • Early intervention program • School based special education • IDEA, individuals w/ disabilities education act, guarantees free and appropriate public education • Private Practice therapists

26. Treatment • Your job • Longer time for appointments • Routine care, preventative and screening • Assess nutrition, physical activity, screen time, alternative therapies • Safety • Surveillance for comorbidities • Seizures, lead poisoning, anxiety, depression, hyperactivity, sleep problems, GI • Support the family, educate on proven treatments

27. Treatment • Prognosis • Factors that have better outcomes • Presence of joint attention, functional play skills, cognitive, decreased severity, early ID, involvement, move to inclusion • Factors with worse outcomes • Lack of joint attention by 4, lack of functional speech by 5, IQ<70, seizures and other comorbid medical and neurodevelopment conditions, severe symptoms

28. Treatment • Behavioral and educational interventions • Maximize functioning, move child toward independence, improve quality of life for child and family • Questions to assess • How many days a week, how much time • Number of students and providers • Therapy, time, individual or group • Home therapy • Providers, oversight of program, qualifications

29. Treatment • Intervention models • Behavioral • Structured teaching • Development/relationship • Integrative

30. Treatment • Behavioral interventions • Applied Behavior Analysis • Reinforce good behavior, decrease undesirable thru repeated reward • Teach new skills, break learned skills into basic elements

31. Treatment • Structured teaching, TEACCH, University of North Carolina • TEACHING. We share our knowledge of Autism Spectrum Disorder and increase the skill level of others through innovative education, teaching, and demonstration models. • EXPANDING. We are committed to expanding our own knowledge and that of others to ensure that we offer the highest quality, evidence-based services for individuals with Autism Spectrum Disorder and for their families across the lifespan. • APPRECIATING. We understand and appreciate the unique strengths of people with Autism Spectrum Disorder and their families. • COLLABORATING AND COOPERATING. We embody a spirit of collaboration and cooperation in our interactions with colleagues, individuals with Autism Spectrum Disorder and their families, and members of the larger community. • HOLISTIC. We stress the importance of looking at the whole person, their families and their communities throughout the lifespan.

32. Treatment • Development and relationship • Teaching essential skills that were not adequately learned at the expected age • Several types of models • Denver, Early start Denver, Floortime, Milieu, More than Words, Relationship development intervention, Responsive teaching

33. Treatment • Integrative • Combining models • Specific behaviors • OT

34. Treatment • Pharmacotherapy for medical and psychiatric comorbidities • Should be prescribed by a specialist • Does not treat autism, started after interventions • Only FDA approved drugs are rispridone and ariprazole, all others are off label • Used for clearly defined symptoms and tracked • Benefits outweigh risks • Can be difficult to assess side effects, poor communication, more sensitive

35. Treatment • Pharmacotherapy • Symptoms • Hyperactivity, impulsivity, inattention • Aggression, self injury • Repetitive behaviors, rigidity • Anxiety, depression, labile mood

36. Treatment • Hyperactivity, impulsivity, inattention • Can be comorbid ADHD • Stimulants- methyphenidate, dextroamphetamine • Alpha 2 agonists- guanfacine, atomoxetine, clonidine • Atypical antipsychotics- risperidone • Anticonvulsant- valproic acid

37. Treatment • Aggression • Atypical antipsychotic- risperidone, aripiprazole, olanzapine, clozapine, quetiapine, ziprasidone, haloperidol • Wt,ht, EKG, CBC, THS, prolactin, LFT, lipids, glucose • Lithium • SSRI • Beta blockers

38. Treatment • Repetitive behaviors • SSRI-fluoxetine • clomipramine • Atypical antipsychotics • valproate

39. Treatment • CAM- complementary and alternative medicine • Biologic based • Melatonin- sleep • Secretin- GI abnormalities • Omega 3- CV health • Gluten free casein free- leaky gut, no hard evidence • B6-Mg- inconclusive • Dimethyl glycine- no harm, no benefit • Probiotics • Antifungal agents- yeast overgrowth • IvIG • Chelation- heavy metals • Hyperbaric O2- enhance o2 delivery

40. Treatments • Nonbiologic based • Music therapy • Horseback riding- improved attention, distractibility, social motivation • Transcranial magnetic stimulation- decreased repetitive ritualistic behavior • Facilitative communication • Auditory integration • Yoga • Massage, touch • Acupuncture • Chiropractic • reiki

41. Local resources • EDI • Champions of Autism and ADHD at 3025 Kimball Ave, 319-233-0380 • Cedar Valley Community Support Services 3121 Brockway Rd, (319) 233-1288 • AEA 267 Autism Resource Team http://www.aea267.k12.ia.us/sped/resource-teams/autism/about-us/www.earlyaccessiowa.org/IowaPrograms.pdf • Black Hawk County Department of Human Services • 1st Five, http://www.idph.state.ia.us/1stfive/

42. Local Resources • The Arc of Cedar ValleyPO Box 4090Waterloo, IA 50704-4090 arccv@episervice.org(319) 232-0437

43. Potential causes • Not causes • Vaccines- MMR • Thimerosal- stopped in 1992 , still increased • Might be causes • Parental age- mom and dad • Environment, perinatal- teratogens, low birth wt • Genetic

44. Take away • Id • Refer • Treat, reassess

45. Online resources • American Academy of Pediatrics National Center for Medical Home Implementation www.medicalhomeinfo.org/health/autism.html • Autism Society of America www.autism-society.org • Autism Speaks Family Services Tool Kits www.autismspeaks.org/docs/family services docs/100 day kit.pdf • The CDC www.cdc.gov/ncbddd/autism/treatment.html • First Signs www.firstsigns.org • The UK National Autistic Society www.nas.org.uk

46. Resources • Up-to-date • Dsm v • YouTube • Primary Care for Children with Autism, PAUL S. CARBONE, MD, and MEGAN FARLEY, PhD, University of Utah, Salt Lake City, Utah, TOBY DAVIS, DO, St. Luke's Family Medicine, Meridian, Idaho, Am FamPhysician. 2010 Feb 15;81(4):453-460.