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Autism Indicators in Infant Siblings and Infants with Fragile X

University of South Carolina Neurodevelopmental Disorders Lab, University of South Carolina


Bridgette Tonnsen, M.A. Lindsay M. McCary, Ph.D. Sara Deal, B.A. Jane Roberts, Ph.D.
This work was supported by NIMH-1R01MH090194-01A1 (Roberts) and NIMH-1F31MH095318-01A1 (Tonnsen).

INTRODUCTION
The Autism Observation Scale for Infants (AOSI, Bryson et al., 2008) is an empirically-derived direct observation measure designed to capture autism risk factors in infants. Previous research indicates several AOSI items at 12 months are predictive of later autism diagnoses in infants with older siblings diagnosed with autism (ASIBs), with scores of 9 or greater at age 12 months indicating elevated autism risk (Bryson et al., 2008, Zwaigenbaum et al., 2005). However, no published studies have examined AOSI profiles in other high risk infant samples, including infants with fragile X syndrome. Infant siblings of children with autism (ASIBS) comprise the most commonly studied high-risk prospective sample, as ASIBS face higher rates of autism diagnoses (10-61%; e.g. Landa & Garrett-Mayer, 2006) than the general population (1-2%). Between 25% and 60% of infants with fragile X syndrome (FXS) later meet criteria for autism, and up to 90% display autistic symptoms. Fragile X syndrome is the most common heritable form of intellectual disability and the leading single-gene cause of autism, affecting 1:4000 individuals (Crawford et al., 2001). In light of the elevated risk for autism in both ASIB and FXS samples, the present study aims to inform the generalizability of AOSI indicators by comparing performance across ASIBs, infants with FXS, and typically developing (TD) controls.

PARTICIPANTS
Participants average scores and standard deviations (in parentheses) are as follows:

FXS

12

12.91 (.68) 9.02 (3.22)

11.00 (5.29)

6.33 (3.03)

ASIB
Controls (TD) TOTAL

15
5 32

12
4 25

12.60 (.56) 12.22 (1.82)


11.88(1.01) 13.25 (1.21) 12.58 (.77) 11.18 (2.90)

6.13 (3.96)
6.2 (.44) 7.97 (4.77)

4.07 (2.37)
3.6 (2.19) 4.84 (2.80)

1
0 5

RESULTS
We conducted two analyses of covariance (ANCOVA) to test whether groups differed in overall AOSI scores and total number of endorsed markers. Gender was included as a covariate in each model. Total Score significantly varied across groups, F(3, 28)=4.82, p=.008, partial 2=.34, main effect p=.009, partial 2 =.29. Post hoc pairwise comparisons indicate significant group differences between the FXS group and each ASIB (p=.004) and TD (p=.03) group. The ASIB and TD groups did not statistically differ (p=.98). Findings for Number of Markers were consistent with Total Score outcomes, F(3, 28)=3.14, p=.04, partial 2=.25. Average AOSI Score by Group
2.00 1.50 1.00 0.50 0.00 Score

Attn. Visual Track Disengage ASIB 1.07 1.13 FXS 0.33 1.25 TD 0.4 1.2

Name Orient 0.73 0.92 1

Facial Emotion 1.00 1.83 0.2

Anticipat. 0.07 0.08 0

Imitation 0.27 0.33 0.4

Social Babbling 0.73 1.83 1.6

REFERENCES

n male

Age (SD)

Mental Age

Total Score

n Markers

n 9+ Markers

Bryson, S. E., Zwaigenbaum, L., McDermott, C., Rombough, V., & Brian, J (2008). The Autism Observation Scale for Infants: scale development and reliability data. Journal of Autism and Developmental Disorders, 38, 731-8. Crawford, D. C., Acuna, J. M., & Sherman, S. L. (2001). FMR1 and the fragile X syndrome: human genome epidemiology review. Genetics in Medicine, 3, 359-371. Landa, R., & Garrett-Mayer, E. (2006). Development in infants with autism spectrum disorders: a prospective study. Journal of Child Psychology and Psychiatry, 47, 629638. Zwaigenbaum, L., Bryson, S., Rogers, T., Roberts, W., Brian, J., & Szatmari, P. (2005). Behavioral manifestations of autism in the first year of life. International Journal of Developmental Neuroscience, 23, 143-152.

Eye Contact Social Smile Coordiate 0.53 1.17 0.4 0.73 0.92 0.8 0.00 0.08 0

Reactivity 0.07 0.33 0.2

Shared Affect 0.67 1.17 0.6

Transition 0.07 0.08 0.2

Motor Control 0.13 0.83 0.2

Atypical Motor 0.00 1.17 0

Atypical Sensory 0.00 0.17 0

RESEARCH QUESTIONS
1. Compared with low-risk controls, do high risk ASIBs and infants with FXS present similar levels of autism risk, as measured by the AOSI at 12 m? 2. Which AOSI items discriminate between high-risk groups?

We conducted a Discriminant Function Analysis to differentiate between FXS and ASIB group membership based on AOSI algorithm items. TD controls were not included. The discriminant function revealed significant associations between groups and predictors, accounting for 80.5% of between-group variability. Atypical motor behaviors (structured matrix coefficient=.44) and motor control (.33) contributed the most to group differentiation, with higher scores on these items predicting FXS group membership. Social babbling (.28) also substantially contributed to group differentiation, with more severe scores predicting ASIB group membership.
Structured Matrix Coeff.

Item Discriminant Function across FXS and ASIB groups


0.40 0.20 0.00 -0.20 Attn. Visual Track Disengage -0.11 0.03 Name Orient 0.05 Facial Emotion 0.08 Anticipat. 0.02 Imitation 0.03 Social Eye Contact Social Smile Coordiate Babbling 0.28 0.17 0.05 0.11 Reactivity 0.11 Shared Affect 0.15 Transition 0.02 Motor Control 0.33 Atypical Motor 0.44 Atypical Sensory 0.11

METHODS
The Autism Observation Scale for Infants is a semi-structured, interactive assessment of risk factors. The AOSI was administered as part of a longitudinal study on the emergence of autism in high-risk infants. All assessors were trained to administer and score with research reliability. The AOSI: Is appropriate for infants ages 6-18 months Measures visual attention, social behaviors, sensory-motor systems, temperament and reactivity Includes 18 items to yield total score of 0-50 (continuous) Is administered in approximately 20 minutes Presents acceptable psychometrics: good to excellent interrater reliability (.53-1.0), acceptable test-retest reliability at 12m (.61)

Results may be interpreted using structure matrix coefficients, which indicate the correlation between items and the resultant discriminant function. Coefficients >.30 (blue line) indicate variables with greatest contributions.

DISCUSSION

The present study expands the current literature by comparing the presentation of potential early indicators across multiple high-risk infant groups. Key findings from pilot data suggest: - Infants with FXS exhibit higher mean scores and number of endorsed markers than low risk controls and ASIBs - Low-risk controls and ASIBs exhibit similar overall scores - FXS and ASIB groups are distinguished by more atypical motor control and motor behaviors in the FXS group and more atypical social babbling in the ASIB group.

Future directions will include: - Continuing data collection through our ongoing longitudinal study - Examining the relationship behavioural performance and physiological indicators of autism risk - Examining moderating effects of age, gender and biological markers (e.g. FMRP and CGG Repeats in FXS) - Examining associations between risk factors at 6-12 months and later autism diagnoses using gold-standard diagnostic measures We hope these findings will eventually inform earlier detection, diagnosis and treatment of children affected by autism.