Early detection ASD in young children

Question 1

What is ASD?

Answer 1

• A neurodevelopmental disorder with onset in early childhood that is associated with a wide range of symptoms and ability levels
• Encompassing diagnostic category that includes two symptom domains:
  1. Social communication impairments
  2. Restricted, repetitive patterns of behaviours and interests

Question 2

First domain DSM criteria for ASD?

Answer 2

1. Impairment in social interaction and communication (all three subcriteria required)

• Social and emotional reciprocity
• -Difficulty initiating or responding to social interactions
• -Reduced spontaneous sharing of interests, achievements, or emotions (e.g., enjoyment)
• Impairment of nonverbal behaviours
• -Reduced eye contact to communicate
• -Reduced use of gestures (e.g. pointing, waving)
• -Reduced facial expressiveness, appears disconnected
• -May use someone’s hand to get a desired object without making eye contact
• Failure to develop and maintain relationships:
• -Reduced or atypical interest in peers
• -Difficulty engaging in imaginative play with peers

Question 3

Second domain DSM Criteria for ASD?

Answer 3

2. Abnormal and restricted repetitive behaviours, interests and activities (two of four subcriteria required)

• Stereotyped speech and behaviours:
• -Repeats words, phrases (e.g. from television shows or movies)
• -Repetitive activities with objects (e.g., lining up pencils, toy figures)
• -Repetitive body, arm, hand, or finger movements (e.g. spinning around, hand, flapping, finger-flicking)
• -Transient stiff posturing of hands or whole body
• Insistence on sameness/resistance to change
• -Wearing the same clothes (or only one colour) every day; eating the same food daily
• -Distress if route to preschool is changed
• Restricted, fixated interests:
• -Topics and/or objects that are unusually intense or narrowly-focused
• Hyper- or hypo-sensitivity to sensory input
• -Unusual reactions (e.g., distress or fascination with smells, sounds, textures, sights, and tastes)

Question 4

DSM criteria 3-6 for ASD?

Answer 4

3. Signs or symptoms must be present during early development but they may not be fully evident until later, when social demands exceed limited capacities, or they may be masked by learned strategies
4. Symptoms interfere with everyday functioning
5. Symptoms are not better explained by intellectual disability or global developmental delay
6. ASD may occur with or without medical, genetic, neurodevelopmental, mental or behavioural disorders, or an intellectual or language impairment

Question 5

DSM Criteria 7 (level of severity) ?

Answer 5

7. Level of severity for each of the two domains may be used to refine diagnosis
   - Level 1: Requiring support
   - Level 2: Requiring substantial support
   - Level 3: Requiring very substantial support

These levels may be difficult to determine at the initial time of diagnosis with very young children

Question 6

M:F in ASD?

Answer 6

Males diagnosed four times more frequently than females

Question 7

Etiology of ASD?

Answer 7

Not completely understood, likely interplay of genetic, epigenetic and environmental factors

Question 8

Strong risk factors for ASD?

Answer 8

• Male sex
• Positive family history
• Sibling with ASD

Question 9

What is a possible emerging ASD prodrome in the latter half of the first year of life?

Answer 9

May include delayed motor control (e.g. persistent head lag), feeding and sleeping difficulties, and/or excessive reactivity or passivity

Question 10

Genetic/familial risk factors for ASD?

Answer 10

• Specific genetic syndromes/risk variants
• Male sex
• First-degree relative or other family history of ASD

Question 11

Prenatal risk factors for ASD?

Answer 11

• Older parental age (>/=35 years)
• Maternal obesity, diabetes, or hypertension
• In utero exposure to valproate, pesticide, or traffic-related air pollution
• Maternal infections (e.g. rubella)
• Close spacing of pregnancies (<12 months)

Question 12

Postnatal risk factors for ASD?

Answer 12

• Low birth weight

- Extreme prematurity

Question 13

Early warning signs in children age 6-12 months at risk for ASD?

Answer 13

• Reduced or limited smiles or other joyful expressions directed at people
• Limited or no eye contact
• Limited reciprocal sharing of sounds, smiles, or facial expressions
• Diminished, atypical, or no babbling or gesturing (e.g., pointing, reaching, waving ‘bye-bye’)
• Limited response to name when called

Question 14

Early warning signs in children age 9-12 months at risk for ASD?

Answer 14

• Emerging repetitive behaviours (e.g., spinning or lining up objects)
• Unusual play (e.g., intense visual or tactile exploration of toys)

Question 15

Early warning signs in children age 12-18 months at risk for ASD?

Answer 15

• No single words
• Absence of compensatory gestures (such as pointing)
• Lack of pretend play
• Limited joint attention (initiating, responding, sharing of interests)

Question 16

Early warning signs in children age 15-24 months at risk for ASD?

Answer 16

-Diminished, atypical, or no spontaneous or meaningful two-word phrases

Question 17

Warning signs at any age in children at risk for ASD?

Answer 17

• Parental and other caregiver concerns about the possibility of ASD
• Developmental regression (loss of skills): reduced frequency or loss of social behaviours (e.g., directing eye gaze to others) and communication (words and gestures) relative to earlier age

Question 18

All Canadian children should be monitored for _____________ as part of general developmental surveillance.

Answer 18

Early behavioural signs of ASD

Question 19

Children identified as being at increased risk for ASD should receive ______________.

Answer 19

An early, focused evaluation to determine need for further diagnostic assessment.

• Include a standardized measure of ASD symptoms (eg. M-CHAT)
• If positive, proceed to a diagnostic assessment, either by a community pediatrician or a specialized team
• At-risk children should also be referred immediately for local early intervention services.

Question 20

When a child’s presentation is complicated by co-existing concerns, or a complex medical or psychosocial history, the community practitioner may ___________.

Answer 20

Refer the child to an expert team

Question 21

When referring a child for an ASD diagnostic assessment, what to include in the referral letter?

Answer 21

• Parental or health care professional reports of signs or symptoms of ASD, developmental delays or concerns, missed developmental milestones, abnormal behaviours, plus any general development or ASD screening results
• Clinical observations of signs or symptoms of ASD
• Antenatal and perinatal histories
• Developmental milestones achieved
• Any specific risk factors for ASD
• Relevant medical history and investigations
• Information from previous assessments

Question 22

When ASD-focused surveillance does not indicate need for further diagnostic assessment, but other developmental concerns remain?

Answer 22

• Address these concerns directly with parents and continue ongoing developmental surveillance.
• Refer the child and parents for early, development supportive services or interventions, as appropriate.
• Revisit the need for ASD-focused monitoring if needed, and for surveillance of other developmental assessments, as concerns evolve.

Question 23

How to prepare for the first office visit with a child suspected of having ASD?

Answer 23

• Consider scheduling a telephone call with a parent in advance of the first visit, to discuss the child’s:
• -Medical and developmental history, with related family factors
• -Strengths and challenges
• -Sensory sensitivities that might influence behaviour within the office environment; and
• -Strategies to optimize compliance during the clinical visit.
• Consider inviting both patient and parent for a ‘practice visit’ to familiarize the child with the care setting.
• Consider scheduling the child for the first (or last) appointment of the day, when there are fewer people in the waiting room, to minimize wait time.
• Schedule a longer appointment than for a typically developing child.
• Advise parent(s) to bring a couple of favourite toys or foods to offer as a distraction or reward, if needed.
• Consider re-arranging the examination room to accommodate sensory sensitivities (i.e., quiet, with dim lights).