Departement Sentrum • Department Centre

UNIVERSITEIT VAN DIE VRYSTAAT • UNIVERSITY OF THE FREE STATE • YUNIVESITHI YA FREISTATA

Tel (051) 401 3000 • E-mail: info@ufs.ac.za • www.ufs.ac.za

Red flag signs for Autism

Paediatric Refresher Course

2011

Vinyard Hotel

Prof. A. Venter

Department of Paediatrics and Child

Health

University of the Free state

In a nutshell

Autism is a behaviourally defined disorder, characterised by qualitative impairments in:

• social communication

• social interaction

• social imagination

• with a restricted range of interests

• often stereotyped repetitive behaviours and mannerisms.

• sensory hyposensitivities or hypersensitivities to the environment are common features

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How Common are ASDs?

• Estimates suggest that there are 1 in 100 people with an ASD and many of these having a learning disability (LD)

• About four times as many boys as girls have an ASD in the group with LD and there may be ten times as many boys as girls in the high–ability group

Source: Baird, G., Simonoff, E., Pickles, A., et al (2006) ‘Prevalence of disorders of the autistic spectrum in a population cohort of children in South Thames: The Special Needs and Autism Project (SNAP)’, Lancet. 368: 210 –215.

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ASD DEFIES GENERALIZATION

Measured Intelligence:

Severely Impaired _______________________________________ Gifted

Social Interaction:

Aloof ______________________ Passive ____________________ Active but odd

Communication:

Nonverbal ______________________________________________Verbal

Behaviors:

Intense ________________________________________________ Mild

Sensory:

Hyposensitive ___________________________________________Hypersensitive

Motor:

Uncoordinated ___________________________________________Coordinated

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NEUROLOGICAL ASPECTS

• CURRENT THEORIES

• Courchesne – Brain overgrowth

• Casanova – Mini Columns

• Rizolatti - Mirror Neurons

• Cerebellar dysfunction

• Amygdala

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PSYCHOLOGICAL THEORIES

• Theory of mind

• Hyper-systemizing, assortive mating

• Central coherence problem

• Executive dysfunction 6

Introduction

1. In the past the diagnosis of autism could take several years

2. Parents of children with autism spectrum disorders (ASD) are often aware of differences in their child’s development, long before diagnosis is made

3. The notion of early intervention changing the trajectory of development, makes early diagnosis an imperative

Lord & Luyster, 2006

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Stability of diagnosis at 2 years

(±300 subjects)

• Diagnosis made using versions of ADI and ADOS as well as a clinical impression (last most reliable)

• A non-spectrum comparison group was also recruited.

• 3 Diagnoses made: Autism, PDD-NOS, non-spectrum

• Follow-up at 2.5 and 9 years

Lord, Risi, DiLavore et al, 2006

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Outcome:

At 9 years:

Nearly all retained diagnosis

Autism diagnosed Small minority now PDD-NOS

at 2 years 1 child now non-spectrum

At 2 years:

± 75% autism

Autism diagnosed ± 25% PDD-NOS

at 9 years 2 children non-spectrum 9

Outcome: At 9 years:

>50% autism

PDD-NOS diagnosed ± 25% PDD-NOS

at age 2 Small minority non-

spectrum

At 2 years:

± 50% autism

PDD-NOS diagnosed ± 30% PDD-NOS

at 9 years ± 25% non-spectrum

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Lord & Luyster, 2006

Best predictors at 2 years:

1. Repetitive behaviors e.g.:

-hand mannerisms

-repetitive object play

2. Social communication

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Gilles Tréhin: Urville

Stephen Wiltshire: Bath

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Conclusion:

Autism and ASD can be diagnosed

reliably at age 2 (84%)

Only 1% diagnosed at 2 years ended

with non-spectrum diagnosis

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Best discriminators at 2 years

[N=30]

• Child’s attention to voice

• Spontaneous direction of other’s

attention

• Understanding words out of context

Lord, 1995

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Best discriminators at 3 years

• As above plus

• Hand and finger mannerisms

• Using another person’s body as a

tool

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Characteristics of ASD emerging

between 12-24 months:

• Deficits and delays in emerging joint attention

• Decreased response to name.

• Decreased imitation

• Delays in verbal and non-verbal communication

• Motor-delay

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Characteristics of ASD emerging

between 12-24 months:

• Elevated frequency of repetitive behaviours

• A typical visuo-motor exploration of objects

• Extremes of temperament

• Decreased flexibility in disengaging visual

attention

Elsabbagh & Johnson, 2009

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Are ASD symptoms present at birth?

• Probably not

Ozonoff, Iosif, Baguio et al, 2010

• Compared 25 infants later diagnosed with ASD with

25 gender matched low-risk children

• Video at 6, 12,18, 24 and 36 months

• Checked frequencies of

-gaze to faces

-social smiles

-directed vocalizations 20

Outcome:

• No differences at 6 months

• Significant declining trajectories by 12 months

• Refutes the theory of 2 types of autism:

- Stable since birth

- Regressive

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This has been replicated in other studies Baranek, 1999

Osterling, Dawson 1994

Diagnostic criteria:

Pointing

Showing objects

Looking at others

Orienting to name

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DIAGNOSIS

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Dilemma:

1. Unavailability of reliable diagnostic tools

2. Used in literature

i Autism Diagnostic Interview – Revised (ADI-R)

Lord, Rutter, Le Couteur et al,1994

ii Childhood Autism Rating Scale (CARS)

Schopler, Reichler, De Vellis et al, 1980

iii Autism Diagnostic Observation Schedule (ADOS)

Gotham, Risi, Pickles et al, 2006

IV Checklist for Autism in Toddlers (M-CHAT)

Baron-Cohen, Cox, Baird et al, 1996

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M-CHAT - Scoring sheet – Clinician to complete

1. Does your child enjoy being swung, bounced on your knee, etc.? No

2. Does your child take an interest in other children? No 3. Does your child like climbing on things, such as up stairs? No

4. Does your child enjoy playing peek-a-boo/hide-and-seek? No

5. Does your child ever pretend, for example, to talk on the phone No

or take care of a doll or pretend other things?

6. Does your child ever use his/her index finger to pint, to ask for No

something?

7. Does your child ever use his/her index finger to point, to indicate No

in something?

8. Can your child play properly with small toys (e.g. cars or blocks) No

without just mouthing, fiddling, or dropping them?

9. Does your child ever bring objects to you (parent) to show you something? No 10.Does you child look you in the eye for more than a second or two? No

11. Does your child ever seem oversensitive to noise? (e.g., plugging ears) Yes

12. Does your child smile in response to your face or smile? No

M-CHAT - Scoring sheet – Clinician to complete

13. Does your child imitate you? (e.g., you make a face-will your child No imitate you?

14. Does your child respond to his/her name when you call? No

15. If you point at a toy across the room. Does your child look at it? No 16. Does your child walk? No

17. Does your child look at things you are looking at? No

18. Does your child make unusual finger movements near his/her face? Yes

19. Does your child try to attract your attention to his/her own activity? No

20. Have you ever wondered if your child is deaf? Yes

21. Does your child understand what people say? No

22. Does your child sometimes stare at nothing or wander with no Yes

purpose?

23. Does your child look at your face to check your reaction when No

faced with something unfamiliar?

Tick if parent gives answer indicated above.

Child fails screening test if two or more critical (in bold) items are ticked or if

three or more items ticked in total.

@1999 Diana Robins, Deborah Fein, & Marianne Barton

MANAGEMENT

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Important:

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Thorough individual assessment of

strengths and needs to establish an

early intervention programme

INTERVENTION OR EDUCATIONAL

PROGRAMS

• ABA: Applied Behaviour Analysis

• Floortime

• TeacCh: Training and Education of Autistic and Related

Communication Handicapped Children

• Scerts: Social Communication

Emotional Regulation

Transactional Support

• PECS

• Social structures 29

Antecedent, Behavior, Consequence

• The ABC can aid in answering questions such

as

–Are there common patterns?

–Can some stimuli be changed?

–Were there times the behavior did not occur?

–Why?

–Where and with whom did the behavior occur?

–Was the purpose of the behavior

accomplished?

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MEDICATION

• Mostly for related symptoms/comorbidity

• Inability to focus

• Anxiety

• Seizures

• Depression

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AFTER THE DIAGNOSIS

• Organize

• Start a video record

• Get support + services: Build a team

• Play with your child

• Sibling time

• Plan something for yourself

• Learn & read

• Internet resources e.g. Autism Speaks

Polyxo.com

Autism Treatment Network

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Conclusions:

1. Early diagnosis of ASD is possible,

certainly by 12 months of age, definitely

by 2 years

2. The M-CHAT is a good screening tool, the

ADOS perhaps ideal for diagnosis

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Conclusions:

3. Early red flag signs (12-24 months)

a Repetitive behaviours

b Inattentive to voice

c Absence of shared attention

d Using another person’s body as tool

e Decreased response to name

f Decreased imitation

g Delays in verbal and non-verbal

communication

h Atypical visuo-motor exploration of objects

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Conclusions:

4. Red flag signs before 12 months

a Absence of pointing

b Showing objects (lack of shared attention)

c Orienting to name

d Gaze at faces absent

e Absence of social smiles

f Absence of directed vocalizations

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Conclusions:

5. Management should be broad,

multimodal and include the parents

6. The effect of medical interventions on

long term outcome not well researched

yet

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