Autism autism spectrum disorder ASD Dr Anne Zbaracki

Autism autism spectrum disorder (ASD) Dr. Anne Zbaracki Parental presentation April 9, 2014

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

http: //www. youtube. com/watch? v=Ytv. P 5 A 5 O Hp. U

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

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

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

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

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

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

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

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

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

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

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

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

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

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

spectrum Classic autism Childhood disintegrative disorder Pervasive developmental disorder Asperger

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

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

Treatment Management Behavioral and education interventions Medications Complementary and alternative therapies

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

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

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

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

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

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

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

Treatment Intervention models Behavioral Structured teaching Development/relationship Integrative

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

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 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.

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

Treatment Integrative Combining models Specific behaviors OT

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

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

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

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

Treatment Repetitive behaviors SSRI-fluoxetine clomipramine Atypical antipsychotics valproate

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 B 6 -Mg- inconclusive Dimethyl glycine- no harm, no benefit Probiotics Antifungal agents- yeast overgrowth Iv. IG Chelation- heavy metals Hyperbaric O 2 - enhance o 2 delivery

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

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 Black Hawk County Department of Human Services http: //www. aea 267. k 12. ia. us/sped/resource-teams/autism/aboutus/www. earlyaccessiowa. org/Iowa. Programs. pdf 1 st Five, http: //www. idph. state. ia. us/1 stfive/

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

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

Take away Id Refer Treat, reassess

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

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