Identifying Autism spectrum disorder in a busy office- a pragmatic solution

Dr Srinivasa Raghavan. R
Autism spectrum disorder (ASD) includes a group of neurodevelopmental disorders that
present with delayed social communication skills and restricted repetitive behaviours.
Ø The developmental course of autism spectrum disorder (ASD) involves the onset of
symptoms in the first 3 years of life. Differences between children who will later receive
an ASD diagnosis and those with typical development emerge before the second year of
life with some studies documenting signs in the first year of life
Ø Parents first express concerns at an average age of 14 months

Despite advances in knowledge about the early presentations of ASD, the mean age of
diagnosis has consistently remained over 4 years for the last two decades, resulting in the loss
of years of potential intervention, when the brain is most plastic. Timely screening and
identification of ASD in young children, would promote earlier evaluation, diagnosis, and
access to specialized interventions, which have been shown to improve social, emotional,
cognitive, and behavioral functioning in young children with ASD.
Basis of screening measures: Early social-emotional difficulties may be an important
component of the emerging ASD phenotype. First symptoms often involve language delay
accompanied by social communication delays or deficits, which can be observed as early as 12
months. These form the basis of screening and identification of Autism.
Ø Child would not look at parents during play. The child may not laugh or smile looking at
the parent.
Ø When you call him/ her by the name, he/ she would not acknowledge by turning back and
looking at you, promptly.
Ø Social response abnormalities-
o When parents turn their gaze towards someone or something, the child would not
follow the eye gaze
o Not interested in looking at others or participating in activities happening around
them or engaging others in his/ her play
o Reduced expression of positive affect
Ø Not being able to direct attention of others to what he/ she is interested in by pointing and
looking at them, not interested in looking at what others point at in an intent to share the
joy or surprise

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Ø Restrictive and repetitive behaviours: flapping hands, repetitive spinning, repetitive play
with toys- lining up/ stacking them or pouring things into and out of container repeatedly,
repetitive interests (e.g., watching the same videotape or video clip over and over again),
and repetitive movements (e.g., hand flapping).
Ø Lack of imitation- does not copy actions or sounds of parents
Ø Getting distressed with certain day to day sounds or textures or geeting fascinated by lights,
mirrors or some textures
Ø Unusual way of exploration of toys and other objects including prolonged visual
examination, repetitively spinning the wheel rather than play with toy
The presence of these symptoms discriminates between young children with ASD and those
with language and developmental delays. Approximately one-third of those with ASD
experience a period of developmental regression, whereby acquired skills are lost. Regression
is most often reported in the language domain and most often during the ages of 20–24 months.

Early identification- pragmatic solution for a typical Paediatrician office:

For high-risk infants: children with identified perinatal risk factors or sibling history of
Autism, must be closely monitored for their development periodically
For children with no apparent risk factors

Dedicated well child visits

9 18 24-30
months months months

¨ Dedicated visits for developmental surveillance- at 9 months, 18 months and 24-30

months- each visit is focused to identify impairments in specific developmental domains.
18 months visit is focused on emerging social communication impairments- this visit
should be focused on identifying children with ASD features. Parents given checklists
that can be pre-filled before meeting the doctor (to reduce the time)- information about
red flags of common neurodevelopmental problems, developmental stimulation activities
for various age groups etc

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Language domain-focused screener: We can use broadband screening tools like Ages and
Stages questionnaire (ASQ) or Language focused questionnaire like Language Evaluation
Scale of Trivandrum (LEST)
Simple language development screening to identify red flags
12 month 18 month
¨ Does he respond promptly to his name call ¨ Does he call you "mama" or "dada" or a
and acknowledge by looking at you? similar name to get your attention to show
¨ Does your baby call you "mama" or something to seek help or when he finds
"dada" or similar name to get your something interesting? If yes, does he look
attention? towards you to see if you are looking
¨ Looks around to see and point by looking along?
when you say things like "Where's your ¨ Does he point specifically to what he
ball?" or "Where's light?" and looks back wants?
at you for acknowledge? ¨ Does he nod yes/ no to simple choice-
¨ Does he follow directions like "Come making questions?
here" or "Give me the ball"? ¨ Does he identify 5 body parts when you
ask him?
If answer to 1 of the 4 questions are No- screen for ASD

In children with language delays- ask trigger questions to narrow down possible etiology
further
• Is there only language delay?
• Is there any indication for hearing loss?
• Comprehension level?
• How is his communication and pro-social behaviour?
§ Novelty and imagination in play?

If doubts of Autism spectrum disorder (ASD), focused screening for ASD:

§ Level 1 screeners, which are designed to identify children at risk for developmental
disorders from unselected, generally low-risk populations
§ Level 2 screeners, which are used to differentiate children at risk for autism versus those
at risk for other developmental disorders

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Pragmatic approach to speech delay

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Level 1 screening tools:
§ M CHAT R: most commonly used and researched tool for screening for ASD in the
general population
§ MCHAT Best 7
§ POSI- as a part of SWYC
§ TIDOS- interactive
§ Parents who are well versed with English- ASDetect app

Level 2 screening tools: most commonly used in early intervention centers or evaluation
clinics, to help differentiate children at risk for autism from those at risk for other disorders-
questionnaires or interactive assessments.
§ Modified Checklist for Autism in Toddlers: Revised/Follow-Up (MCHAT R/F)
§ RITA-T- interactive tool- administration and scoring occur within 10 min and
reliable training can be achieved in 3–4 h
Using combinations of Level 1 and Level 2 screening tools when assessing children is
generally more effective than utilizing one single measure at a single point in time.

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Parent’s Observations of Social Interactions (POSI)
§ 16-36 months
§ 7 questions

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Scoring:
1. Score each of the seven questions. Each question is assigned either a “1” or a “0”. If the
parent selects one or more responses that fall in the last three columns, the question is
scored as “1”; otherwise, it is scored as “0.” Missing items count as zero.

2. For items where parents have selected multiple responses for a single question (i.e.,
multiple responses in each row), score the more concerning answer (i.e., lower-functioning
behavior) farthest to the right. If the parent has selected multiple answers in the last three
columns for one item, assign only one point for the item.
3. Since there are seven POSI questions total, there is a maximum score of seven potentially.
A score of three or more points indicates that a child is “at risk” and needs further
evaluation.

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TIDOS (Three-Item Direct Observation Screen test)
§ Age group- 18-60 months
§ Includes the following (a) Joint Attention, (b) Eye Contact, and (c) Responsiveness to
Name. In the TIDOS screen test, having at least one of the three items positive had a
sensitivity of 0.95 and specificity of 0.85. A score 0 indicates low-risk

TIDOS items: Before beginning the observation, place 2–3 toys that can attract the
child

1. Call the name of the child while he or she is interested in something else and not
looking at you. (You can try up to four times if the child is not responding. Call only
the child’s name. Do not say anything else.)
0 If the child looks at you at the first two calls.

1 If the child looks at you at your third or fourth call or the child looks at his or her
parents/caregivers in the first two calls.

2 If the child does not look at you or at his or her parents/caregivers.

2. By using your index finger, point to an object (that must be out of reach for both
you and child), which can interest the child, say “Alex, look …” When doing this,
first look at the child, and then the object and again to the child and observe
whether the child follows your gaze. If the child does not respond repeat once more.
0 If the child follows your gaze and turns to the target object.

1 If the child turns directly to the object without making eye contact with you.

2 No interest.

3. When scoring this item, you must distinguish eye contact, which is clear, flexible,
socially oriented, and repeated several times in different contexts during the
examination and interview from restricted, rare, and inappropriate ones. If the child
seems shy and his or her behaviors change when he or she relaxes, score according
to the later behaviors. However, if the child’s behavior persists, score what you
observe.
0 Clear, flexible, appropriate eye contact accompanying and consistent with other
gestures and mimics.

1 Does not use or rarely uses eye contact to initiate, sustain, or regulate social
interaction.

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MCHAT best 7
§ If the response to the items is “No” score 1 (except for item 2 for which the
response “Yes” gets a score 1)
§ Scores 0-2 indicate low risk, and no follow-up is necessary
§ Score 3 or more indicate at risk for ASD

Question Response

If you point at something across the room, does your child look at it? Yes No
(for example, if you point at a toy or an animal, does your child look
at the toy or animal?)

Have you ever wondered if your child might be deaf? Yes No

Does your child play pretend or make-believe? (for example, pretend Yes No
to drink from an empty cup, pretend to talk on a phone, or pretend
to feed a doll or stuffed animal?)

Does your child point with one finger to show you something Yes No
interesting? (for example, pointing to an airplane in the sky or a big
truck in the road)

Is your child interested in other children? (for example, does your Yes No
child watch other children, smile at them, or go to them?)

Does your child show you things by bringing them to you or holding Yes No
them up for you to see – not to get help, but just to share? (for
example, showing you a flower, a stuffed animal, or a toy truck)

Does your child respond when you call his or her name? (for Yes No
example, does he or she look up, talk or babble, or stop what he or
she is doing when you call his or her name?)

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M-CHAT-R- Modified Checklist for Autism in Toddlers- Revised
• Parent-report screening tool
• Assess risk for Autism Spectrum Disorder- NOT a diagnostic tool

What is the age group screened? 16-30 months

Number of items screened? 20

Scoring:
For all items except 2, 5, and 12- Response “NO” indicates ASD risk
For items 2, 5, and 12, “YES” indicates ASD risk
• Assign a score of 1, Else- score 0

ASDetect app: https://asdetect.org/

Interactive app-based tool based on Social Attention and Communication Surveillance–
Revised (SACS-R) and SACS-Preschool (SACS-PR).

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Case study 1:
Aravind- 24 months old- comes to the clinic with his mother. Concerned with his speech and interaction.
Although he had attained sitting, standing and walking at a usual pace, he still has not started speaking
well. He does not turn towards members of his family when they come into the room and despite them
calling his name. He does not seem to look at the face of anyone who speaks to him and does not seem
to be interested in other kids. He does not look at things that others point to him to get his attention. At
times, the family has wondered if he is deaf but he has had a hearing test and all appears to be normal.
While Aravind is sitting on his mother’s lap during the consultation he seems to be hearing the whir of
the computer fan on your desk and occasionally turns towards the ticking of the clock on the wall.
Aravind does not respond to his mother’s voice and does not show any particular reaction when you
call him by name. He does not regard or copy when you wave to him. You wind up a toy in front of him
and he immediately pays attention to the winding noise and the subsequent actions of the toy. He picks
up the toy, but does not seem to share the joy with his mother. After the toy stops playing, he shakes it
and shouts.

If we use POSI as first tier screening:

Aravind
2 years

Scoring: All the 7 items- response in the last 3 columns- despite more than one option being
correct- score is one only. This child’s score is 7- at risk for ASD
Note: In a child who brings objects to parents to seek help, may mark the first response in
the first 2 columns- explain to them that the child must bring objects to show to them to
share joy and not only for help. Even if the parent marks this item in the first 2 columns, if
the child scores 3 or more in other items, the child is at risk.

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 If we were to use MCHAT- R/F for scoring:

For all questions except 2, 5 and 12- score 1 if response is No

For questions 2, 5 and 12- score 1 if response is Yes

Above example- in the section given and with the information given the score would be:
1, 7, 8, 9, 10- responses are No- score 5
2- response is Yes- score 1
Total score- 6- High risk for ASD

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If you were to use TIDOS:

Call the name of the child By using your index finger, When scoring this item,
while he or she is point to an object (that you must distinguish eye
interested in something must be out of reach for contact, which is clear,
else and not looking at you. both you and child), which flexible, socially oriented,
(You can try up to four can interest the child, say and repeated several times
times if the child is not “Alex, look …” When in different contexts
responding. Call only the doing this, first look at the during the examination
child’s name. Do not say child, and then the object and interview from
anything else.) and again to the child and restricted, rare, and
observe whether the child inappropriate ones. If the
0 If the child looks at you at follows your gaze. If the child seems shy and his or
the first two calls. child does not respond her behaviors change
repeat once more. when he or she relaxes,
1 If the child looks at you at score according to the later
your third or fourth call or 0 If the child follows your behaviors. However, if the
the child looks at his or her gaze and turns to the target child’s behavior persists,
parents/caregivers in the object. score what you observe.
first two calls.
1 If the child turns directly 0 Clear, flexible, appropriate
2 If the child does not look to the object without making eye contact accompanying
at you or at his or her eye contact with you. and consistent with other
parents/caregivers. gestures and mimics.
2 No interest
1 Does not use or rarely uses
eye contact to initiate,
sustain, or regulate social
interaction.

Score 5- High risk for ASD

Next step:
• Aravind must be suggested for early intervention.
• On MCHAT-R/F items where the response was at risk behaviour, administer M-
CHAT Follow up questionnaire which has further description.
• Level 2 interactive screener can be applied.

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Case study 2:
Pooja, a 2 year old girl was brought with concerns of not talking yet. Parents say that she calls
them by shouting and points to what she wants, but not saying words yet. She also has poor
response to name calls especially when called from out of her sight. When in front of her, she
responds to simple commands if instructed by gestures. She goes to a balwadi where she enjoys
playing with other children- but at times she has anger outbursts hitting and pulling hair of
other children. She waves bye, has a warm smile and enjoys sharing interests with parents by
pointing and bringing objects to show to them. She likes to play with doll and kitchen set. She
had attained milestones in other domains at appropriate ages. Her head circumference was
normal. Neurologically, her gait, tone and deep tendon reflexes were normal. She had no
dysmorphic facial features.

If we use POSI as first tier screening:

Pooja

2 years

Scoring: For 6 items- response in the first 2 columns- For 1 item the response is in the last
column- score is 1- The child is not at risk for ASD as per POSI.
Note: In a child who has hearing loss the parents may mark response in the last 3 columns
for the question of child looking back when name is called. If the child has good, prosocial
behaviours, the child may score less than 3 totally.

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 If we were to use MCHAT- R/F for scoring:

For all questions except 2, 5 and 12- score 1 if response is No

For questions 2, 5 and 12- score 1 if response is Yes

Above example- in the section given and with the information given the score would be:
10, 18- responses are No- score 2
2- response is Yes- score 1
Total score- 3- Next step is to administer these items on MCHAT R/F

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MCHAT R/F

Q.no 2:

16
Q.no: 10

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Q.no 18:

The score continues to be 3 and this child needs evaluation- however we have got an
indication towards a hearing problem and hearing needs to be checked.

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If you were to use TIDOS:

Call the name of the child By using your index finger, When scoring this item,
while he or she is point to an object (that you must distinguish eye
interested in something must be out of reach for contact, which is clear,
else and not looking at you. both you and child), which flexible, socially oriented,
(You can try up to four can interest the child, say and repeated several times
times if the child is not “Alex, look …” When in different contexts
responding. Call only the doing this, first look at the during the examination
child’s name. Do not say child, and then the object and interview from
anything else.) and again to the child and restricted, rare, and
observe whether the child inappropriate ones. If the
0 If the child looks at you at follows your gaze. If the child seems shy and his or
the first two calls. child does not respond her behaviors change
repeat once more. when he or she relaxes,
1 If the child looks at you at score according to the later
your third or fourth call or 0 If the child follows your behaviors. However, if the
the child looks at his or her gaze and turns to the target child’s behavior persists,
parents/caregivers in the object. score what you observe.
first two calls.
1 If the child turns directly 0 Clear, flexible, appropriate
2 If the child does not look to the object without making eye contact accompanying
at you or at his or her eye contact with you. and consistent with other
parents/caregivers. gestures and mimics.
2 No interest
1 Does not use or rarely uses
eye contact to initiate,
sustain, or regulate social
interaction.
Score 2- At risk for ASD

As you can see from this example that POSI was able to correctly categorize the child
with hearing impairment as being not at risk for ASD when compared to MCHAT-R/F
or TIDOS. As already discussed in the chapter on practical approach to speech delay, we
need evaluate step wise.

• Step 1- Is there a language delay? Yes- child is not yet calling out to parents by saying
kinship words. By 2 years she should be using 2 word phrases
• Step 2- Is the delay only in speech language domain or is it a global developmental delay?
Reportedly she has no delay in motor domains- Delay mainly in speech language domain
• Step 3- Is there any indication for hearing loss? Yes- child has intention to
communicate- but she calls them by shouting and tries to point to what she wants.
She has poor response to name calls especially when called from out of her sight. When
in front of her, she responds to simple commands if instructed by gestures.
• Step 4: How is her communication intent and prosocial behaviours? She displays good
intent to communicate, She gets attention of the people and gets them to look at what she
wants or what she likes by pointing specifically. She goes to a balwadi where she enjoys
playing with other children. She waves bye, has a warm smile and enjoys sharing interests
with parents by pointing.

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Summary of some screening tools for autism spectrum disorder:
Tool Age Description Comment
LEVEL 1/ TIER 1
M-CHAT-R/F 16 to 30 20 caregiver-report items Validated as first-tier
Modified months Takes approximately 5 minutes screen.
Checklist for to administer and 2 minutes to Assesses risk of ASD as
Autism- score low, medium, or high.
Revised/
Follow-up interview takes
Follow-up
approximately 5 to 10 minutes
TIDOS Three 18- 60 months Direct observation of Joint Observational checklist for
Item Direct attention, eye contact and professionals
Observation response to name. Only one validation study
Score Time: 15 min
POSI Parent's 18 to 35 7-item caregiver-report items, a Additional studies in
Observations of months component of the Survey of community samples are
Social Wellbeing of Young Children necessary before the POSI
Interactions (SWYC) can be recommended as a

Takes ≤5 minutes to complete first-tier screen.

CSBS-DP 6 to 24 24-item questionnaire, a The CSBS-DP is a

Infant Toddler months component of the broadband screen for
checklist Communication and Symbolic communication delays but
Behavior Scales-Developmental has not been validated as a
Profile (CSBS-DP) screen for ASD.

SCQ Social 4 to 40 years 40 caregiver-report items Screener for children

Communication (yes/no) beyond toddler age group
Questionnaire Takes <10 minutes to administer Additional studies are

and <5 minutes to score necessary before the SCQ

can be used as a first-tier
screen
ASSQ Autism 7 to 16 years 27-item checklist to be Validated as first-tier
Spectrum completed by caregivers or screen for older children
Screening teachers with high-functioning ASD
Questionnaire Takes approximately 10 minutes
to complete
AQ-Child 4 to 11 years Caregiver-report measure Additional studies are
Autism necessary before the AQ-
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 Spectrum Child can be recommended
Quotient- as a first-tier screening*
Children's tool.
Version
LEVEL 2/ TIER 2
STAT 24 to 36 12 observed activities during 20- Tier 2 screen interactive
Screening Tool months minute play session screen
for Autism in Requires training for
Toddlers and administration and scoring Language comprehension
Young is not required.
Children
RITA-T 18 to 36 9 semi-structured play based Tier 2 interactive screen
Rapid months items
Interactive Takes 10 min to complete
Screening Test
for Autism in
Toddlers

Suggested reading:
1. Zwaigenbaum L, Brian JA, Ip A (2019). Early detection for autism spectrum disorder in young children.
Paediatrics & Child Health, 424–432
2. Stewart LA, Lee LC (2017). Screening for autism spectrum disorder in low- and middle-income countries: A
systematic review. Autism. 21(5):527-539.
3. Gammer, I., Bedford, R., Elsabbagh, M., Garwood, H., Pasco, G., Tucker, L., ... & Team, B.A.S.I.S. (2015).
Behavioral markers for autism in infancy: Scores on the Autism Observational Scale for Infants in a
prospective study of at-risk siblings. Infant Behavior and Development, 38, 107– 115
4. Ozonoff, S., Iosif, A.M., Baguio, F., Cook, I.C., Hill, M.M., Hutman, T., ... & Young, G.S. (2010). A
prospective study of the emergence of early behavioral signs of autism. Journal of the American Academy of
Child and Adolescent Psychiatry, 49, 256–266.
5. Chawarska, K., Paul, R., Klin, A., Hannigen, S., Dichtel, L.E., & Volkmar, F. (2007). Parental recognition of
developmental problems in toddlers with autism spectrum disorders. Journal of Autism and Developmental
Disorders, 37, 62–72
6. Zwaigenbaum, L., Bryson, S., Rogers, T., Roberts, W., Brian, Szatmari, P. (2005). Behavioral manifestations
of autism in the first year of life. International Journal of Developmental Neuroscience, 23, 143–152
7. Brian J, Bryson SE, Garon N, et al. Clinical assessment of autism in high-risk 18-month-olds. Autism.
2008;12:433-456.
8. Ozonoff S, Macari S, Young GS, et al. Atypical object exploration at 12 months of age is associated with
autism in a prospective sample. Autism. 2008;12:457-472.
9. Choueiri R, Garrison WT, Tokatli V. Early Identification of Autism Spectrum Disorder (ASD): Strategies for
Use in Local Communities. Indian J Pediatr. 2023 Apr;90(4):377-386.
10. Stewart LA, Lee LC. Screening for autism spectrum disorder in low- and middle-income countries: A
systematic review. Autism. 2017 Jul;21(5):527-539.

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