ASD

Question 1

What is the prevalence rate in US & Europe of ASD?

Answer 1

6/1,000

Question 2

Why should you know about ASD as a family physician?

Answer 2

• 44% of PCP care for ≥ 10 ASD patients
• Only 8% of PCP screen for ASD

Question 3

The gender {{BLANK}} is more affected by ASD

Answer 3

M:F = 2:1 to 6.5:1

Question 4

Why has there been a 10-fold increase in ASD?

Answer 4

• Better definitions
• Better screening tools
• Increased parental & professional awareness

Question 5

In the DSM-V there are (2) categories of ASD which includes?

Answer 5

• Social communication/interaction
• Restricted & repetitive behaviors

Question 6

What are the (3) categories of social communication/interaction deficits seen in ASD?

Subtype

Answer 6

• Problems reciprocating social or emotional interaction incl. conversation & interactions
• Problems maintaining relationships
• Nonverbal communication problems

All (3) must be present

Question 7

What are the restricted & repetitive behaviors seen in ASD?

Subtype

Answer 7

• Stereotyped or repetitive speech, motor, and use of objects
• Excessive adherence to routines & resistance to change
• Restricted interests w/ abnormal intensity or focus
• Hyper- or hypo-reactivity to sensory input or unusual interest in sensory aspects of the environment

2 out of 4 should be present

Question 8

T/F: ASD displays low heritability with minimal gene engagement for disease occurrence

Answer 8

False, high heritability, complex neuro-developmental disorder w/ multiple genes involved

Question 9

Roughly {{BLANK}} of patients with FXS display ASD

Answer 9

30-50%

Question 10

What neuroanatomical changes are seen in ASD?

Answer 10

• Macrocephaly: 20-30%
• Increased brain vol.: 90%

Question 11

What are some clinical features of ASD?

Answer 11

• Severe social skills
• Restricted, repetitive, and stereotypic patterns of behavior, interests, and activities

Question 12

What are some clinical features of AD and PDD?

Autistic disorder & pervasive developmental disorder

Answer 12

Language developmental delay

Question 13

A normal pediatric patient should be able to follow the gaze at what age?

Social Interaction

Answer 13

8 mo

Question 14

A normal pediatric patient should be able to follow the point at what age?

Social Interaction

Answer 14

12 mo

Question 15

A normal pediatric patient should be able to protoimperative point at what age?

Social interaction; Desire for an object

Answer 15

12-14 mo

E.g., pointing at a cookie they want

Question 16

A normal pediatric patient should be able to protodeclartive point at what age?

Social interaction; Desire to share social experience

Answer 16

14-16 mo

E.g., pointing at a dog in the park to show their dad

Question 17

Regression of speech is a hallmark of what disorder?

Answer 17

ASD

Question 18

What are RED FLAGS of ASD?

SPEECH DEFICITS

Answer 18

• No blabbling, pointing, or gesturing by 12 mo
• No single words by 16 mo
• No 2 word phrases by 24 mo

Loss of language/skills at any age

Question 19

2-word phrases should be used by what age?

Answer 19

2 yo (24 mo)

Question 20

Single words should be used by what age?

Answer 20

16 mo

Question 21

Babbling, pointing, and gesturing should be performed by what age?

Answer 21

12 mo

Question 22

What is the AAP recommended screening interval for ASD?

Answer 22

• All children at 18 mo well-child visit
• F/U/repeat at 24 mo

F/U for possible regression at 24 mo

Question 23

For screening tools to work for ASD the patient must be at least {{BLANK}} old

Answer 23

18 mo

No screening tools exist for < 18 mo

Question 24

In ASD you should identify {{BLANK}} refer {{BLANK}} and work up {{BLANK}}

Answer 24

• Identify early
• Refer ASAP
• Work up PRN

Minimizes impact of dx on life