Autism

Question 1

DSM-5 Diagnostic Criteria

Neurodevelopmental disorder characterized by

Answer 1

persistent deficits in social communication and social interaction

and restricted, repetitive patterns of behavior, interests, or activities

Question 2

DSM-5 Diagnostic Criteria

Symptoms must be present in

Answer 2

the early developmental period

Question 3

DSM-5 Diagnostic Criteria

Symptoms cause clinically significant impairments in

Answer 3

social, occupational or other important areas of current functioning

Question 4

DSM-5 Diagnostic Criteria

Not better explained by

Answer 4

intellectual disability or global developmental delay

Question 5

“Autism” comes from the Greek word

Answer 5

“autos” meaning “self”

Question 6

Eugen Bleuler

Answer 6

1911

a Swiss psychiatrist used the term to describe some of the symptoms of schizophrenia

Question 7

Leo Kanner

Answer 7

1943
a psychiatrist at Johns Hopkins University described 11 children, who happened to come from families of highly educated parents

Question 8

Bruno Bettleheim

Answer 8

‘40s-’70s
A psychiatrist at U of Chicago
Promoted the idea of the “refrigerator mother”
Compared parents to Nazi guards

Question 9

AUTISM SPECTRUM DISORDER and the DSM

Answer 9

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

Question 10

Social-emotional reciprocity

Answer 10

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

Question 11

Nonverbal communication behaviors

Answer 11

Abnormal eye contact

Abnormal body language

Deficits in understanding of or use of gestures

Total lack of facial expressions and nonverbal communication

Question 12

Developing, maintaining and understanding relationships

Answer 12

Difficulties adjusting behavior to match social expectations

Difficulties in making friends

Deficits in imaginative play
Lack of interest in peers

Question 13

Stereotyped or repetitive motor movements, use of objects or speech

Answer 13

Simple motor stereotypies (hand flapping, finger flipping)

Lining up toys

Flipping objects

Echolalia (immediate and delayed)

Question 14

Insistence on sameness

Answer 14

Extreme distress at small changes

Difficulties with transitions

Rigid thinking patterns

Ritual behaviors

Insistence on specific routines (route to school, same menu daily)

Question 15

Highly restricted, fixated interests that are abnormal in intensity or focus

Answer 15

Strong attachment to specific and unusual items

Excessively circumscribed or perseverative interest

Question 16

Hyper- or hypo-reactivity to sensory input or unusual interests in sensory aspects of the environment

Answer 16

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

Question 17

Modifying Specifiers: DSM-5

Answer 17

With or without accompanying intellectual impairment

With or without accompanying language impairment

Associated with a known medical or genetic condition or environmental factor

Question 18

What are the known medical or genetic conditions or environmental factors?

Answer 18

Rett syndrome, Fragile X syndrome, Down syndrome, Epilepsy, fetal alcohol syndrome, very low birth weight, in utero exposure to tobacco

Question 19

More Modifying Specifiers: DSM-5

Answer 19

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

Question 20

Even More Modifying Specifiers: DSM-5

Answer 20

With catatonia

Dominated by three or more of the following: stupor, catalepsy, waxy flexibility, mutism, negativism, posturing, mannerisms stereotypy, agitation, grimacing, echolalia and echopraxia

Question 21

Severity Level 3

Answer 21

Requiring very substantial support

Question 22

Severity Level 2

Answer 22

Requiring substantial support

Question 23

Severity Level 1

Answer 23

Requiring support

Question 24

Prevalence

Answer 24

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

Question 25

Prevalence by race

Answer 25

1 in 63 Whites 1 in 81 Blacks 1 in 81 Asians/Pacific Islanders 1 in 93 Hispanics

Question 26

Prevalence over time (aka the Autism Epidemic) in the US

Answer 26

``` 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 ```

Question 27

Clinical Diagnosis

Answer 27

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

Question 28

Red Flags

Answer 28

``` 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 ```

Question 29

Typical infants

Answer 29

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

Question 30

Joint Attention

Answer 30

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

Question 31

In the primary care clinician’s office

Answer 31

Developmental surveillance Developmental screening Autism-specific screening

Question 32

Developmental surveillance

Answer 32

At every visit Process of recognizing who is at risk for delay

Question 33

Developmental screening

Answer 33

Use of a standardized tool to aid in identifying a developmental disorder Routinely at 9, 18 and 30 months (AAP guideline)

Question 34

Autism-specific screening

Answer 34

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)

Question 35

Diagnostic Tools

Answer 35

Gold Standard Rating Scales

Question 36

Gold Standard

Answer 36

ADI and ADOS Direct, semi-structured observation/interaction with the child, focusing on the core symptoms of the disorder

Question 37

Rating Scales

Answer 37

CARS, GARS, SCQ Completed by parents and teachers Screening vs diagnosis

Question 38

Additional Developmental Assessments

Answer 38

Speech, Language and Communication Intellectual Functioning Adaptive Behavior Fine Motor Sensory Sensitivity

Question 39

Medical Assessment

Answer 39

Formal audiologic evaluation Lead screening (pica) Wood’s lamp examination (tuberous sclerosis) Dysmorphology evaluation Genetic testing Metabolic testing EEG/MRI

Question 40

Treatment

Answer 40

Educational Intervention Behavioral Therapies Medications

Question 41

Educational Intervention

Answer 41

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

Question 42

What is the IDEA?

Answer 42

A federal law that guarantees a “free and appropriate public education” to all children with disabilities from 3-21 years old.

Question 43

Behavioral Therapies

Answer 43

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)

Question 44

Medication

Answer 44

Target symptom oriented No agents address core features Associated conditions

Question 45

What are the associated conditions?

Answer 45

ADHD Disruptive behavior Anxiety

Question 46

Risk Factors | Genetic

Answer 46

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 %

Question 47

Risk Factors

Answer 47

Older parents Either mother and father Premature or VLBW babies are at a slightly increased risk