Early signs of Autism Spectrum Disorder Catherine Swan Developmental Paediatrician CDHB

Early signs of Autism Spectrum Disorder Catherine Swan Developmental Paediatrician CDHB

Early Autism Spectrum Disorder How does social communication develop What do we know about the early signs of ASD? Can ASD be detected in children under 3 in primary care? What is the current best practice for diagnostic assessment in toddlers and pre-schoolers? What interventions can be offered to toddlers with suspected/confirmed ASD? What do toddlers and pre-schoolers with suspected/confirmed ASD look like when they are older

Normal development of social communication

New born social communication 1. Preference for baby talk 2. Recognise mother s voice 3. Prefer to look at happy / socially responsive faces 4. Infants pay attention to gaze 5. Match facial expressions mimicry vs imitation? (focal distance 30cm)

Social communication - 6 weeks 1. Smiles selectively to mother s voice and then to face 2. Human voice leads to quieting of cries 3. Cries vary with cause

Social communication - 3 months 1. Take turns in vocalising (making voice sounds) 2. Coo, grunt and laugh 3. Enjoys being touched or picked up 4. Recognise mother

Social communication - 6 months 1. Make four or more distinct sounds (vowels and consonants) 2. Laugh in response 3. Search for sound by turning head 4. Change behaviour when listening to sound and human conversation 5. Enjoy and respond to play 6. Anticipate touch, being lifted, routines (starting)

Social communication 9 months Skill % 8m % 12m Eye gaze Child looks when you point 78.1 95.5 When playing child checks if you are watching 91.3 98.3 Communication Lets you know when needs help to reach toy 88.5 96.0 Tries to get your attention 54.9 83.4 Try to get you to notice things 24.5 65.6 Gesture Pick up objects and give to you 35.0 92.8 Waves to greet 29.8 82.3 Show objects with giving 46.0 88.4 Point to objects 18.8 78.5

Social communication 9 months Play and object use Skill % 8m % 12m Shows interest playing with a variety of objects 99.3 99.7 Objects used appropriately 81.1 98.9 Child can stack blocks 9.9 53.8 Child pretends to play with toys 1.4 24.9

Social communication 6 months Language Skill % 8m % 12m Sounds Use sounds/words to get help 93.0 97.6 String sounds together 80.4 94.7 Consonant sounds used 95.5 99.7 Words Words used meaningfully that you recognise 33.0 77.1 Put two words together 3.2 11.8 Understanding Child responds to their name 98.9 99.5 Child understands words/phrases without gestures 60 92

What do we know about the early signs of ASD? No biological marker Parents generally register concerns at 12-18 months 20-50% some regression in 2 nd year

What do we know about the early signs of ASD? the prospective high risk studies tell us: At 12-18 months Children who will be diagnosed with ASD at 3 years have differences across ALL developmental domains i.e. social communication, play, language, cognition, vision, motor and regulation (sleeping, eating and attention)

What do we know about the early signs of ASD? Where does the information come from? Retrospective Video studies Following high risk infants: Siblings of children with Autism (20x increase risk) Neonatal graduate follow up Infants failing language screening

What do we know about the early signs of ASD from the high risk studies? (1) visual atypical visual tracking fixation on objects prolonged visual inspection of objects (2) motor decreased activity levels delayed fine and gross motor atypical motor mannerisms

What do we know about the early signs of ASD from the high risk studies? (3) play Delays motor imitation limited toy play Repetitive actions with toys (4) social-communication - atypical eye gaze orienting to name imitation social smiling reactivity social interest and affect, reduced expression of positive emotion

What do we know about the early signs of ASD from the high risk studies? (5) Language - delays in: babbling (especially back-and forth social babbling), verbal comprehension and expression, Gesturing (measured with standardized assessments) (6) General cognitive development At least 2 groups have reported slower acquisition of new skills (associated with declining standard score) in a subset of toddlers subsequently diagnosed with ASDs

What do we know about the early signs of ASD from the high risk studies? Interestingly: Clear slowing (if not always regression) after 12 months Little/no difference between groups at 6 months: Infants who would have ASD at 3 could: Gaze at people Turn toward voices Express interest in communication Time to switch attention may have already been longer

Can ASD be detected in children under 3 in primary care?

Can ASD be detected in children under 3 in primary care? M-CHAT low sensitivity Australian Maternal Child Nurse study - promising Milestone check lists (e.g. ASD guidelines or CDC) PEDS for general developmental cocnerns

M-CHAT-RTM Please answer these questions about your child. Keep in mind how your child usually behaves. If you have seen your child do the behavior a few times, but he or she does not usually do it, then please answer no. Please circle yes or no for every question. Thank you very much. 1. 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?) 2. Have you ever wondered if your child might be deaf? Yes No 3. Does your child play pretend or make-believe? (FOR EXAMPLE, pretend to drink Yes No from an empty cup, pretend to talk on a phone, or pretend to feed a doll or stuffed animal?) 4. Does your child like climbing on things? (FOR EXAMPLE, furniture, playground Yes No equipment, or stairs) 5. Does your child make unusual finger movements near his or her eyes? Yes No (FOR EXAMPLE, does your child wiggle his or her fingers close to his or her eyes?) 6. Does your child point with one finger to ask for something or to get help? Yes No (FOR EXAMPLE, pointing to a snack or toy that is out of reach) 7. Does your child point with one finger to show you something interesting? Yes No (FOR EXAMPLE, pointing to an airplane in the sky or a big truck in the road) 8. Is your child interested in other children? (FOR EXAMPLE, does your child watch Yes No other children, smile at them, or go to them?) 9. Does your child show you things by bringing them to you or holding them up for you to Yes No see not to get help, but just to share? (FOR EXAMPLE, showing you a flower, a stuffed animal, or a toy truck)

10. Does your child respond when you call his or her name? (FOR EXAMPLE, does he or she Yes No look up, talk or babble, or stop what he or she is doing when you call his or her name?) 11. When you smile at your child, does he or she smile back at you? Yes No 12. Does your child get upset by everyday noises? (FOR EXAMPLE, does your Yes No child scream or cry to noise such as a vacuum cleaner or loud music?) 13. Does your child walk? Yes No 14. Does your child look you in the eye when you are talking to him or her, playing with him Yes No or her, or dressing him or her? 15. Does your child try to copy what you do? (FOR EXAMPLE, wave bye-bye, clap, or Yes No make a funny noise when you do) 16. If you turn your head to look at something, does your child look around to see what you Yes No are looking at? 17. Does your child try to get you to watch him or her? (FOR EXAMPLE, does your child Yes No look at you for praise, or say look or watch me?) 18. Does your child understand when you tell him or her to do something? Yes No (FOR EXAMPLE, if you don t point, can your child understand put the book on the chair or bring me the blanket?) 19. If something new happens, does your child look at your face to see how you feel about it? Yes No (FOR EXAMPLE, if he or she hears a strange or funny noise, or sees a new toy, will he or she look at your face?) 20. Does your child like movement activities? Yes No (FOR EXAMPLE, being swung or bounced on your knee) Score is 0-2: LOW RISK: No further action, rescreen if < 24 month old Score is 3-7: MEDIUM RISK: Administer Follow Up interview and rescore. Refer if 2 after Follow Up interview Score is 8-20: HIGH RISK: Refer immediately

Red flags (NZ ASD Guidelines)

Referral pathways

Assessment Referral pathways Discuss with local DHB ASD Coordinator 2-3 main routes in 0-8 year olds: 1. Preschool refers to MOE 2. GP refers to Paediatrics 3. GP/Other professional refers to Child development service Older primary and/or adolescents 1. CAMHS 2. May also be through paediatrics to 15 years in some areas

What is the current best practice for diagnostic assessment in toddlers and preschoolers?

Components of ASD Assessment in under 3 s Birth, Developmental and family history Observations across more than one setting Generally home visit and 1+ other setting Developmental assessment Communication assessment Needs and strengths of all family members Physical examination

Bare minimum? Good history Information from across settings and preferably over time Consistent with observations of child Meets DSM 5 criteria Not better explained by another diagnosis* Best-fit diagnosis for now and willingness to review Working diagnosis ASD or GDD with features seen in younger children with ASD

Differential Diagnosis of ASD in toddlers Normal population Unifying genetic diagnosis e.g. Fragile X, Global developmental delay Other neurodevelopmental disorders Severe language delay Dyspraxia Early adverse experiences - e.g. neglect Maternal depression

When diagnosis is not clear Additional Assessments ASD specific ADOS generally defer til over 3 Etc Cognitive assessment Bayleys in this age group SLT Assessment OT assessment

What interventions can be offered to toddlers with suspected/confirmed ASD? Few studies have measured the long-term value and effectiveness of early intervention treatments No articles published on effects into adulthood of such treatments. (Tonge 2014) Interventions aimed at improving joint attention skills in young children with ASD showed a positive effect on both joint attention and language development

Early intervention Some variation around country Ministry of Education/ Child Development Services plus some private providers Funded through MOH and MOE Typically SLT and/ or EIT Education support worker May have OT or Psychologist

Other interventions Parent education programmes ASD plus (IDEA funded MOE/H; anyone can refer) Hanen Programme (MOE or Autism NZ in some areas) Early bird programme(autism NZ in some areas) Way to play (Autism NZ all areas) ABA Studies show good outcomes in selected groups Forms part of some mainstream programmes Parents sometimes self fund more intensive programmes ($$$)

Other interventions - support Parent support groups can contact without confirmed dx Autism NZ Altogether Autism Financial Child disability allowance Disability allowance Home based Needs assessment

Post diagnosis Social Stories Books about George I can go to the hairdresser to get my haircut George gets a haircut

Other visual aids

What do toddlers and pre-schoolers with suspected/confirmed ASD look like when they are older? Of children diagnosed with under 3 years 80-90 % will still meet diagnostic criteria at follow-up 10-20% will not Studies of older children suggest 30-50% have intellectual disability

Outcomes Non Verbal at School Entry Language at SE predictors: Ability to imitate sounds and simple movements - Predicts expressive language Response to joint attention - Predicts receptive language Nonverbal cognitive abilities - Predicts both expressive and receptive language Is complete absence of any social motivation associated with no spoken language? Tager-Flusberg and Kasari, Autism Res 2013, 6: 468 478.

Red flags (NZ ASD Guidelines)

Extra slides

What do we know about the early signs of ASD from the high risk studies? 1. Social communication Atypical/lack of Eye gaze /joint attention Affect Less +, More negative Social smiling Social interest/ shared enjoyment (unless physical) Orienting to name Gesture especially pointing Combining communication e.g gaze/sound/expression/gesture

What do we know about the early signs of ASD from the high risk studies? Play Reduced imitation of actions with objects Excessive manipulation/visual exploration of toys and other objects Repetitive actions with toys and other objects Language and cognition, notably a lack /delay/atypical Cognitive development Babbling, particularly back-and-forth social babbling Language comprehension and production (eg, odd first words or unusually repetitive) Unusual prosody/tone of voice Regression/loss of early words and/or social-emotional connectedness

What do we know about the early signs of ASD from the high risk studies? Visual/other sensory and motor Atypical visual tracking, visual fixation (eg, on lights) and unusual inspection of objects Underreactive and/or overreactive to sounds or other forms of sensory stimulation Decreased activity levels and delayed fine and gross motor skills Repetitive motor behaviors and atypical posturing/motor mannerisms Atypical sleeping, eating, and attention

Social communication trajectories the data suggest that the children with ASD who pointed the most frequently in preschool years had higher levels of expressive language at follow-up

young children begin to acquire increasingly sophisticated ways to communicate (i.e. spoken language), their need for explicit gesturing decreases [e.g. Werner & Kaplan, 1963]. The same developmental reprioritization in typical development also appears true in this sample of children with ASD and may explain the decreased use of the gesture over time

At birth, head growth rate has been frequently found to follow a peculiar pattern in some patients. Head circumference is typically normal or slightly below the normal range.56-59 However, by 1-2 years of age, it becomes abnormally large and by 2-4 years, brain volume is about 10% larger compared with typically developing controls.56,59,60 Early overgrowth is not evenly distributed across the brain.60,61 Magnetic resonance imaging (MRI) in 2- to

Why the increase? Changes in diagnostic criteria over time Differences in methods used in studies Increasing awareness amongst professionals and the wider community Recognition that ASD: occurs in association with other conditions (eg. ID, physical disability, syndromes, psychiatric conditions) can occur in people with high IQ presentation can be subtle. The question as to whether there has been a genuine increase remains open

Post diagnosis DHB ASD Coordinator Early intervention (preschool) School based support? RTLB, Possibly SLT, Tips for Autism Parent Education ASD plus Tips for Autism Growing up with Autism CDA Behaviour Support services Explore or IDEA ASD services Advocacy organisations (Autism NZ, Altogether Autism) OT referral through Child development service