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 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
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 2
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. 3
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 4
NEUROLOGICAL ASPECTS CURRENT THEORIES Courchesne Brain overgrowth Casanova Mini Columns Rizolatti - Mirror Neurons Cerebellar dysfunction Amygdala 5
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 7
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, nonspectrum Follow-up at 2.5 and 9 years Lord, Risi, DiLavore et al, 2006 8
Outcome: At 9 years: Autism diagnosed at 2 years Nearly all retained diagnosis Small minority now PDD-NOS 1 child now non-spectrum Autism diagnosed at 9 years At 2 years: ± 75% autism ± 25% PDD-NOS 2 children non-spectrum 9
Outcome: At 9 years: PDD-NOS diagnosed at age 2 >50% autism ± 25% PDD-NOS Small minority nonspectrum PDD-NOS diagnosed at 9 years At 2 years: ± 50% autism ± 30% PDD-NOS ± 25% non-spectrum 10
Lord & Luyster, 2006
Best predictors at 2 years: 1. Repetitive behaviors e.g.: -hand mannerisms -repetitive object play 2. Social communication 12
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Gilles Tréhin: Urville Stephen Wiltshire: Bath 14
Conclusion: Autism and ASD can be diagnosed reliably at age 2 (84%) Only 1% diagnosed at 2 years ended with non-spectrum diagnosis 15
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 16
Best discriminators at 3 years As above plus Hand and finger mannerisms Using another person s body as a tool 17
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 18
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 19
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 21
This has been replicated in other studies Baranek, 1999 Osterling, Dawson 1994 Diagnostic criteria: Pointing Showing objects Looking at others Orienting to name 22
DIAGNOSIS 23
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 24
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 27
Important: Thorough individual assessment of strengths and needs to establish an early intervention programme 28
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? 30
MEDICATION Mostly for related symptoms/comorbidity Inability to focus Anxiety Seizures Depression 31
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 32
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 33
Conclusions: 3. Early red flag signs (12-24 months) a b c d e f g Repetitive behaviours Inattentive to voice Absence of shared attention Using another person s body as tool Decreased response to name Decreased imitation Delays in verbal and non-verbal communication h Atypical visuo-motor exploration of objects 34
Conclusions: 4. Red flag signs before 12 months a b c d e f Absence of pointing Showing objects (lack of shared attention) Orienting to name Gaze at faces absent Absence of social smiles Absence of directed vocalizations 35
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 36