Autismautism spectrum disorder (ASD)Dr. Anne ZbarackiParental presentationApril 9,2014

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

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

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 examThen, direct assessment of social, language, and cognitive developmentParent interviews for concerns and behavior hxStructured 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 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

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

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

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

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 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 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.

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 B6-Mg- inconclusive Dimethyl glycine- no harm, no benefit Probiotics Antifungal agents- yeast overgrowth IvIG Chelation- heavy metals Hyperbaric O2- enhance o2 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 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/

Local Resources The Arc of Cedar Valley

PO Box 4090Waterloo, 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 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 Fam Physician. 2010 Feb 15;81(4):453-460.