Transcript Autism

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=YtvP5
A5OHpU
Definition
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From DSM V- biologically based
neurodevelopment disorder characterized by
impairments in two major domains
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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
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covers
Classic autism
Childhood disintegrative disorder
Pervasive developmental disorder–nos
Asperger
Epidemiology
 Prevalence
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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
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conditions
Intellectual disability
Seizures
Genetic disorders
 Tuberous
 Fragile
sclerosis
X
 Smith-Lemli-Opitz
Diagnosis
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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
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Diagnosis
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Hx
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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
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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
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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
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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
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CDC and AAP
ALARM
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Autism is prevalent
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Listen to parents
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Concerns, screen at 18 and 24 mo
Refer
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Early as 18mo, parents are concerned
Act early
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1:50
Don’t delay
Monitor
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Ongoing support and medical management
Screening
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Early indicators
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Reduced response to name
Reduced frequency looking at faces
Red flags
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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
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Indications
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Delayed language/ communication, regression
of social or language skills, parental concern
1st stage screening
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Id ASD from general population
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Ex: CHAT, M-CHAT, social communication
questionnaire
2nd stage screening
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ASD from other development disorders
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Ex: PDD screening test II , screening tools for
autism in 2yr olds
Differential Diagnosis
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Global development delay/intellectual disability
Social communication disorder
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Developmental language disorder
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Language-based learning disability
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Hearing impairment
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no restrictive repetitive behaviors
Normal socialization
Normal socialization, intent to communicate
Normal reciprocal social interactions
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Landau-Kleffner syndrome
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Rett
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Severe early deprivation/ reactive attachment
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Normal until 3-6
Females, >18months
Caregiver neglect, improve with appropriate care
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Anxiety
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OCD
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Symptoms distressing
Symptoms distressing
spectrum
 Classic
autism
 Childhood disintegrative disorder
 Pervasive developmental disorder
 Asperger
Spectrum
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Impaired social communication and
interaction
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Social reciprocity
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Joint attention
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Seeking to share enjoyment, undemanding of
attention
Nonverbal
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Unaware of other children, lack empathy, lack
imitation
Baby resists cuddling, avoid eye contact
Social relationships
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Lack of friendships
Spectrum
 Restricted
and repetitive behaviors,
interests , and activities
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Stereotyped
 Hand
flapping, swaying, toe walking, self
injurious
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Sameness
 Daily
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routines, routes
Restricted interests
 Preoccupations,
sensory
Treatment
 Management
 Behavioral
and education interventions
 Medications
 Complementary and alternative
therapies
Treatment
 Management
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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
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Treatment team
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You
Developmental pediatrician, child neurologist,
child psychiatrist
neuropsychologist
Geneticist, genetic counselor
Speech language pathologist
Occupational therapist
Audiologist
Social worker
Treatment
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Proven aspects of education programs
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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
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IDEA, individuals w/ disabilities education
act, guarantees free and appropriate
public education
 Private
Practice therapists
Treatment
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Your job
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Longer time for appointments
Routine care, preventative and screening
Assess nutrition, physical activity, screen time,
alternative therapies
Safety
Surveillance for comorbidities
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Seizures, lead poisoning, anxiety, depression,
hyperactivity, sleep problems, GI
Support the family, educate on proven
treatments
Treatment
 Prognosis
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Factors that have better outcomes
 Presence
of joint attention, functional play
skills, cognitive, decreased severity, early ID,
involvement, move to inclusion
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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
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Behavioral and educational interventions
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Maximize functioning, move child toward
independence, improve quality of life for child
and family
Questions to assess
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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
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models
Behavioral
Structured teaching
Development/relationship
Integrative
Treatment
 Behavioral
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interventions
Applied Behavior Analysis
 Reinforce
good behavior, decrease
undesirable thru repeated reward
 Teach new skills, break learned skills into basic
elements
Treatment
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Structured teaching, TEACCH, University of North Carolina
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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
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and relationship
Teaching essential skills that were not
adequately learned at the expected age
 Several
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types of models
Denver, Early start Denver, Floortime, Milieu, More
than Words, Relationship development
intervention, Responsive teaching
Treatment
 Integrative
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Combining models
 Specific
 OT
behaviors
Treatment
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Pharmacotherapy for medical and
psychiatric comorbidities
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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
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Symptoms
 Hyperactivity,
impulsivity, inattention
 Aggression, self injury
 Repetitive behaviors, rigidity
 Anxiety, depression, labile mood
Treatment
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Hyperactivity, impulsivity, inattention
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Can be comorbid ADHD
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Stimulants- methyphenidate, dextroamphetamine
Alpha 2 agonists- guanfacine, atomoxetine, clonidine
Atypical antipsychotics- risperidone
Anticonvulsant- valproic acid
Treatment
 Aggression
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Atypical antipsychotic- risperidone,
aripiprazole, olanzapine, clozapine,
quetiapine, ziprasidone, haloperidol
 Wt,ht,
EKG, CBC, THS, prolactin, LFT, lipids,
glucose
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Lithium
SSRI
Beta blockers
Treatment
 Repetitive
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behaviors
SSRI-fluoxetine
clomipramine
Atypical antipsychotics
valproate
Treatment
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CAM- complementary and alternative medicine
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Biologic based
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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
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Nonbiologic based
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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
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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
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Black Hawk County Department of Human Services
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http://www.aea267.k12.ia.us/sped/resourceteams/autism/aboutus/www.earlyaccessiowa.org/IowaPrograms.pdf
 1st
Five,
http://www.idph.state.ia.us/1stfive/
Local Resources
 The
Arc of Cedar Valley
PO Box 4090
Waterloo, IA 50704-4090
[email protected]
(319) 232-0437
Potential causes
 Not
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causes
Vaccines- MMR
Thimerosal- stopped in 1992 , still increased
 Might
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be causes
Parental age- mom and dad
Environment, perinatal- teratogens, low
birth wt
Genetic
Take away
 Id
 Refer
 Treat,
reassess
Online resources
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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.