ICL 3.1: Autism

Question 1

what is the DSM-5 definition of autism spectrum disorder?

Answer 1

a neurodevelopment disorder characterized by persistent deficits in:

1. social communication and social interaction (need 3/3)
2. restricted, repetitive patterns of behavior or interests (need 2/4)
3. symptoms must be present in early developmental period but may not become fully manifest until social demands exceed limited capacities, or may be masked by learned stages in later life
4. symptoms cause clinically significant impairment in social, occupational, or other important areas of functioning
5. these disturbances are not better explained by an intellectual disability or global developmental delay

Question 2

what are the 3 criteria of social communication and social interaction deficits that patients with ASD have?

Answer 2

1. deficits in social-emotional reciprocity
   ranging from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions
2. deficits in nonverbal communicative behaviors used for social interaction
   ranging from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body-language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication
3. deficits in developing, maintaining and understanding relationships
   ranging from difficulties adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play orin making friends; toabsence of interest in peers

must have all 3

Question 3

what is the clinical presentation of the social deficits you would see in an ASD patient?

Answer 3

1. does not respond to name by 12 months of age
2. avoids eye-contact
3. prefers to play alone
4. does not share interests with others
5. only interacts to achieve a desired goal
6. has flat or inappropriate facial expressions
7. does not understand personal space boundaries
8. avoids or resists physical contact
9. is not comforted by others during distress
10. has trouble understanding other people’s feelings or talking about own feelings
11. lack of joint attention* = the shared focus of two people on an object

Question 4

what is the clinical presentation of the communication deficits you would see in an ASD patient?

Answer 4

1. delayed speech and language skills
2. repeats words or phrases over and over (echolalia)
3. reverses pronouns (e.g., says “you” instead of “I”)
4. gives unrelated answers to questions
5. does not point or respond to pointing
6. uses few or no gestures (e.g., does not wave goodbye)
7. talks in a flat, robot-like, or sing-song voice
8. does not pretend in play (e.g., does not pretend to “feed” a doll)
9. does not understand jokes, sarcasm, or teasing

Question 5

what are the 4 criteria of restricted, repetitive patterns of behavior or interests that someone with ASD have? (they need 2/4)

Answer 5

1. stereotyped or repetitive motor movements, use of objects or speech
   ex. simple motor stereotypies, echolalia, lining up of toys or flipping objects, idiosyncratic phrases
2. insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior
   ex. extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat same food every day
3. highly restricted, fixated interests that are abnormal in intensity or focus
   ex. strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests
4. hyper-or hypo-reactivity to sensory input or unusual interest in sensory aspects of the environment
   ex. apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement

you only need 2/4 to qualify for ASD

Question 6

what is the clinical presentation of the behavior deficits you would see in an ASD patient?

Answer 6

1. lines up toys or other objects
2. plays with toys the same way every time
3. likes parts of objects (e.g., wheels)
4. gets upset by minor changes
5. has obsessive interests
6. has to follow certain routines
7. claps hands, rocks body, or spins self in circles
8. is very organized

Question 7

what are the red flags that if seen heavily suggest ASD?

Answer 7

1. no babbling by 12 months
2. no single words by 16 months
3. no spontaneous 2 word phrases by 24 months
4. any loss/regression of language or social skills
5. does not orient to name being called
6. lack of pointing and/or not following a point
7. deficits in joint attention

Question 8

what is the prevalence of ASD?

Answer 8

1 in 59 births

4 times more common in boys than girls

affects all racial, ethnic, and socioeconomic groups

chronic with no cure but we can do a lot of rehab

Question 9

what are the medical effects of having ASD?

Answer 9

1. more prone to anxiety and depression
2. higher rates of comorbidity with other disorders
3. higher rates of epilepsy
4. eating issues; picky
5. sleep problems
6. GI complaints

Question 10

what are the behavioral manifestations of ASD?

Answer 10

1. hyperactivity
2. aggression
3. impulsivity
4. self-injurious behavior

Question 11

what are the etiological causes of ASD?

Answer 11

1. environmental factors and their interaction with genetics can increase risk for autism
2. researchers have identified a few hundred genes associated with autism
3. known irregularities in several regions of the brain like amygdala and cerebellum
4. studies have also found abnormalities related to levels of serotonin or other neurotransmitters in the brain like glutamate and dopamine

Question 12

what is the genetic significance associated with ASD?

Answer 12

1. among identical twins - if one child has ASD, then the other will be affected about 36-95% of the time
2. non-identical twins - if one child has ASD, then the other is affected about 0-31% of the time
3. parents who have a child with ASD have a 2%–18% chance of having a second child who is also affected
4. ASD tends to occur more often in people who have certain genetic or chromosomal conditions

about 10% of children with autism are also identified as having Down syndrome, fragile X syndrome, tuberous sclerosis, or other genetic and chromosomal disorders

Question 13

what are the risk factors for having ASD?

Answer 13

1. advanced parental age; bother mothers and fathers
2. close or prolonged spacing of pregnancies
3. low birth weight or premature births
4. prenatal factors
   ex. medication use in pregnancy, exposure to viral infections, exposure to chemicals/toxins, vitamin deficiencies like folate

Question 14

at what age is autism usually diagnosed?

Answer 14

autism can be reliably diagnosed by age 2

however, the average age of diagnosis is approximately 4 ½ yrs….yikes

Question 15

what is the importance of early diagnosis of autism?

Answer 15

significant improvements in speech, behavioral deficits, academic skills, cognitive abilities, and social skills with 2+ years of intensive early intervention

early diagnosis is a critical time period for maximal outcomes

Question 16

how should physicians be screening for autism?

Answer 16

AAP mandates that developmental surveillance be incorporated at every well-child preventive care visit –> any concerns raised during surveillance should be addressed promptly with standardized developmental screening tests

ALL children must be screened for autism by their physician at the 18 mos. and 24 mos. well visits!!!!

AAP also recommends that treatment be started upon suspected diagnosis rather than waiting for a formal diagnosis

Question 17

what is the modified checklist for autism in toddlers?

Answer 17

M-CHAT-R was developed as a screening tool for autism for children 16-30 months at their pediatric well visit in U.S.

parent report measure on current skills and behaviors

then the pediatricians should recommend further evaluation when either two of the six critical items or any of three total items are failed

once a child screens positive, refer them for complete diagnostic evaluation by a clinician that is experienced in the the diagnosis of autism

slide 24

Question 18

what is done during the evidence based assessment of a child that has screened positive for autism?

Answer 18

1. medical/developmental/pregnancy history
2. physical exam/lab testing/neuro exam
3. speech and language evaluation
4. psychological evaluation

DSM5 diagnostic interview with parents and the ADOS-2 observational assessment

5. occupational therapy evaluation

Question 19

what does ADOS-2 stand for?

Answer 19

autism diagnostic observation schedule

Question 20

what is ADOS?

Answer 20

semi-structured standardized observation for the assessment of communication, social interaction, and play or imaginative use of materials

investigator directs activities to elicit behaviors that assess communication, reciprocal social interaction, play, creative play, use of gestures, stereotypic behavior, restricted interest, etc.

there are 5 modules depending on language abilities

it doesn’t give a DSM diagnosis but rather a classification –> it is the gold standard for assessing ASD!!

it’s used for nonverbal toddlers all the way up to verbal adults

Question 21

how do you treat ASD?

Answer 21

1. Applied Behavior Analysis (ABA)/Early Intensive Behavioral Intervention = gold standard
2. behavior modification
3. pharmacotherapy
4. occupational therapy to fix motor and sensory problems
5. speech and language services
6. physical therapy

all of these help improve outcome but there’s no cure

Question 22

what are the pharmacologic interventions that can be used to treat ASD?

Answer 22

1. risperdal
2. SSRI’s to treat comorbid anxiety and depression
3. stimulants to treat comorbid ADHD

Question 23

what is risperdal?

Answer 23

it’s an atypical antipsychotic that’s approved for the treatment of irritability associated with ASD in children and adolescents (5-16yr)

it treats symptoms of aggression, self-injuring behavior, temper tantrums, and quickly changing moods

Question 24

what referrals can you give to families with autistic kids?

Answer 24

1. Help Me Grow in Ohio = early intervention program for 0-3 year olds
2. local school district special education services for 3+ years old
3. autism treatment centers
4. autism society of northwest ohio
5. Autism Speaks
6. CDC
7. board of developmental disabilities

Question 25

what is the summary of ASD?

Answer 25

1. deficits in social communication and social interaction across multiple contexts
2. restricted , repetitive patterns of behavior, interests, or activities
3. symptoms present in early developmental period
4. symptoms cause clinically significant impairment
5. early identification and treatment is so important and leads to better outcomes

Question 26

sarah is a 10 year old girl with an above average IQ of 120. she gets all A’s in school and is highly verbal. she has 2 friends whose she eats lunch with at school. she loves science and loves to tell people about various science facts and makes eye contact when doing so. her favorite topics are volcano development and global warming. based on the scenario above, sarah is not likely to have ASD. T/F?

Answer 26

false

we don’t have enough info to rule out ASD

making eye contact and having friends doesn’t rule out ASD – there’s lots of people that are on the spectrum but highly functioning with verbal and social skills

also girls are harder to diagnose because they tend to blend in better than boys in some areas – they have extra ability to imitate while boys don’t so they try hard to blend in and fit in and they also come across as anxious when infant it’s actually autism

also some people with ASD have normal things that they’re obsessed with

it’s also possible the people she sits with aren’t actually her friends or they’re other people on the spectrum so they blend together since they have similar interests – you can also have a friend or two and still have ASD

also just because she had eye contact now doesn’t mean that in the past she didn’t used to

so we definitely need more information

Question 27

jack is a 5 year old boy who displayed moderate levels of symptoms of ASD on the ADOS. what other information is required to make a diagnosis of ASD?

Answer 27

DSM-5 criteria for ASD

Question 28

a mother takes her 14 month old son Billy to the pediatrician due to concerns about development. mother reports that billy only has 3 words “ma, da and ball”. he is very quiet when he plays and prefers to play alone with his trains for hours at a time. he gets very upset when his trains are put away. she stated that he is able to wave bye. mother stated that billy has a tendency to look past her when she calls his name and that he stares off into space. mother also stated that when she smiles at him he doesn’t smile back like her two older children and does not look happy. mother reported that figuring out what he wants is very difficult. for example when he wants something to drink he will stand in the kitchen and cry and flap his hands. when his mother asks show me what you want while pointing inside the fridge, billy cries even more and just stares at the fridge. mother then points to favorite items on the top shelf of fridge while billy holds it up in front of her. when mother pulls out OJ, billy stops crying. mother says that she will then smile at him and say do you want orange juice and billy just stares at juice. mother reported that she has to take the chill off the juice because he doesn’t like cold beverages. what are the red flags?

Answer 28

1. hand flapping
2. only using 3 words = language delay
3. no gestures
4. unresponsive to name
5. sensory problems with the cold
6. doesn’t respond to pointing
7. solitary play; prefers to be alone for hours at a time so lots of focus for a long time
8. gets upset with transitions like trains being put away
9. doesn’t smile back at his mother
10. flat affect; not looking happy or smiling at his mom when he got what he wanted

Question 29

if you were billy’s pediatrician, what would be the best response to the mother’s concerns?

Answer 29

ask more questions about developmental milestones and social and behavioral functioning and observe social behaviors in office and refer for additional testing

you want to address it in THAT session, don’t let them leave without talking about it and trying to do some screening