Autism Flashcards
DSM-5 Diagnostic Criteria
Neurodevelopmental disorder characterized by
persistent deficits in social communication and social interaction
and restricted, repetitive patterns of behavior, interests, or activities
DSM-5 Diagnostic Criteria
Symptoms must be present in
the early developmental period
DSM-5 Diagnostic Criteria
Symptoms cause clinically significant impairments in
social, occupational or other important areas of current functioning
DSM-5 Diagnostic Criteria
Not better explained by
intellectual disability or global developmental delay
“Autism” comes from the Greek word
“autos” meaning “self”
Eugen Bleuler
1911
a Swiss psychiatrist used the term to describe some of the symptoms of schizophrenia
Leo Kanner
1943
a psychiatrist at Johns Hopkins University described 11 children, who happened to come from families of highly educated parents
Bruno Bettleheim
‘40s-’70s
A psychiatrist at U of Chicago
Promoted the idea of the “refrigerator mother”
Compared parents to Nazi guards
AUTISM SPECTRUM DISORDER and the DSM
DSM-I 1952
Childhood schizophrenia
DSM-II 1968
Childhood schizophrenia
DSM-III 1980
Infantile autism with 6 characteristics
DSM-III-R 1987
16 symptoms in 3 categories—two from A, 1 from B, 1 from C
DSM-IV 1994 and TR
Several subtypes, including PPD, NOS and Asperger’s
Social-emotional reciprocity
Abnormal social approach
Failure of normal back and forth conversation
Reduced sharing of interests, emotions or affect
Failure to initiate or respond to social interactions
Nonverbal communication behaviors
Abnormal eye contact
Abnormal body language
Deficits in understanding of or use of gestures
Total lack of facial expressions and nonverbal communication
Developing, maintaining and understanding relationships
Difficulties adjusting behavior to match social expectations
Difficulties in making friends
Deficits in imaginative play
Lack of interest in peers
Stereotyped or repetitive motor movements, use of objects or speech
Simple motor stereotypies (hand flapping, finger flipping)
Lining up toys
Flipping objects
Echolalia (immediate and delayed)
Insistence on sameness
Extreme distress at small changes
Difficulties with transitions
Rigid thinking patterns
Ritual behaviors
Insistence on specific routines (route to school, same menu daily)
Highly restricted, fixated interests that are abnormal in intensity or focus
Strong attachment to specific and unusual items
Excessively circumscribed or perseverative interest
Hyper- or hypo-reactivity to sensory input or unusual interests in sensory aspects of the environment
Indifference to pain or temperature
Excessive interest in smell, taste, feel or sight of objects
Adverse response to specific sounds, textures or other sensory experiences
Modifying Specifiers: DSM-5
With or without accompanying intellectual impairment
With or without accompanying language impairment
Associated with a known medical or genetic condition or environmental factor
What are the known medical or genetic conditions or environmental factors?
Rett syndrome, Fragile X syndrome, Down syndrome, Epilepsy, fetal alcohol syndrome, very low birth weight, in utero exposure to tobacco
More Modifying Specifiers: DSM-5
Associated with another neurodevelopmental, mental, or behavioral disorder such as:
ADHD, developmental coordination disorder; disruptive behavior, impulse-control or conduct disorders; anxiety, depression, bipolar disorder; tics or Tourette’s disorder; self-injury, feeding disorder, elimination disorder or sleep disorder
Even More Modifying Specifiers: DSM-5
With catatonia
Dominated by three or more of the following: stupor, catalepsy, waxy flexibility, mutism, negativism, posturing, mannerisms stereotypy, agitation, grimacing, echolalia and echopraxia
Severity Level 3
Requiring very substantial support
Severity Level 2
Requiring substantial support
Severity Level 1
Requiring support
Prevalence
Data was collected from health and special education records of 8-year-old children in 11 locations in the US during 2010
1 in 68 children were identified as having ASD
1 in 42 boys; 5 X more common in boys
1 in 189 girls
Prevalence by race
1 in 63 Whites
1 in 81 Blacks
1 in 81 Asians/Pacific Islanders
1 in 93 Hispanics
Prevalence over time (aka the Autism Epidemic) in the US
2000 1 in 150 2004 1 in 125 2006 1 in 110 2008 1 in 88 2010 1 in 68 Studies in Asia, Europe, North America 1 in 100 Study in South Korea 1 in 38
Clinical Diagnosis
Sometimes may be detected as early as 18 months or younger, BUT USUALLY, can be detected by 24 months by an experienced clinician
1/3 to ½ of parents recognize a problem by 12 months
80-90 % recognize a problem by 24 months
Some children appear to develop normally until 18-24 months, and then regress
Red Flags
No response to name by 12 mo. No pointing for interest by 14 mo. No pretend play by 18 mo. Avoiding eye contact Preferring to be alone Difficulty understanding feelings Delayed speech and language Echolalia Getting upset by minor changes Obsessive interests Flapping, rocking, spinning…. Unusual reactions to sound, smell, taste, feel or look
Typical infants
Make good eye contact
Imitate words and actions
Use simple gestures
Show interest in social games, such as peek-a-boo and pat-a-cake
Joint Attention
Demonstrated at 9-12 months by typical children
First, catch the child’s attention by calling the child’s name
Then, draw the child’s attention to a distant object
The child should turn his/her head, following your gaze
In the primary care clinician’s office
Developmental surveillance
Developmental screening
Autism-specific screening
Developmental surveillance
At every visit
Process of recognizing who is at risk for delay
Developmental screening
Use of a standardized tool to aid in identifying a developmental disorder
Routinely at 9, 18 and 30 months (AAP guideline)
Autism-specific screening
Routinely at 18 and 24 months
Evidence-based process supports the use of the M-CHAT, now available in a revised form: M-CHAT-R/F (Modified Checklist for Autism in Toddlers-Revised with Follow-up)
Diagnostic Tools
Gold Standard
Rating Scales
Gold Standard
ADI and ADOS
Direct, semi-structured observation/interaction with the child, focusing on the core symptoms of the disorder
Rating Scales
CARS, GARS, SCQ
Completed by parents and teachers
Screening vs diagnosis
Additional Developmental Assessments
Speech, Language and Communication
Intellectual Functioning
Adaptive Behavior
Fine Motor
Sensory Sensitivity
Medical Assessment
Formal audiologic evaluation
Lead screening (pica)
Wood’s lamp examination (tuberous sclerosis)
Dysmorphology evaluation
Genetic testing
Metabolic testing
EEG/MRI
Treatment
Educational Intervention
Behavioral Therapies
Medications
Educational Intervention
ASD is a qualifying condition under the Individuals with Disabilities Education Act (IDEA)
Public Law 99-457 (IDEA, 2007) covers early intervention programs from birth through two.
Section 504 of the Rehabilitation Act of 1973 (Rehabilitation Act, 2007) prohibits discrimination against students with disabilities in their education, vocational education, post-secondary education, employment, etc.
Physician role—advocate and support
What is the IDEA?
A federal law that guarantees a “free and appropriate public education” to all children with disabilities from 3-21 years old.
Behavioral Therapies
Applied Behavior Analysis (ABA)
The Early Start Denver Model (ESDM)
Pivotal Response Therapy (PRT)
Verbal Behavior Therapy
Floortime
Relationship Development Intervention (RDI)
Training and Education of Autistic and Related Communication Handicapped Children (TEACCH)
Social Communication/
Emotional Regulation/ Transactional Support (SCERTS)
Medication
Target symptom oriented
No agents address core features
Associated conditions
What are the associated conditions?
ADHD
Disruptive behavior
Anxiety
Risk Factors
Genetic
36-95 % of identical twins are concordant for an ASD
Up to 31 % of fraternal twins are concordant for an ASD
Risk to subsequent child is 2-18 %
If two siblings have ASD, subsequent risk is 35-50 %
10 % of people with ASD have specific genetic or chromosomal conditions, such as Fragile X, tuberous sclerosis
Calculated heritability of ASD = 90 %
Risk Factors
Older parents
Either mother and father
Premature or VLBW babies are at a slightly increased risk
