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1.  Blood-Based Gene Expression Signatures of Autistic Infants and Toddlers 
Objective
Autism spectrum disorders (ASDs) are highly heritable neurodevelopmental disorders that onset clinically during the first years of life. ASD-risk biomarkers expressed early in life could significantly impact diagnosis and treatment, but no transcriptome-wide biomarker classifiers derived from fresh blood samples from children with autism have yet emerged.
Method
Using a community-based, prospective, longitudinal method, we identified 60 infants and toddlers at-risk for ASDs (autistic disorder and pervasive developmental disorder), 34 at-risk for language delay (LD), 17 at-risk for global developmental delay (DD), and 68 typically developing (TD) comparison children. Diagnoses were confirmed via longitudinal follow-up. Each child's mRNA expression profile in peripheral blood mononuclear cells (PBMCs) was determined by microarray.
Results
Potential ASD biomarkers were discovered in one half of the sample and used to build a classifier with high diagnostic accuracy in the remaining half of the sample.
Conclusions
The mRNA expression abnormalities reliably observed in PBMCs, which are safely and easily assayed in babies, offer the first potential peripheral blood-based early biomarker panel of risk for autism in infants and toddlers. Future work should verify these biomarkers and evaluate if they may also serve as indirect indices of deviant molecular neural mechanisms in autism.
doi:10.1016/j.jaac.2012.07.007
PMCID: PMC3756503  PMID: 22917206
autism; biomarker; classifier; microarray; support vector machine
2.  Detecting, Studying, and Treating Autism Early: The One-Year Well-Baby Check-Up Approach 
The Journal of pediatrics  2011;159(3):458-465.e6.
Objectives
To determine the feasibility of implementing a broadband screen at the 1-year check-up to detect cases of autism spectrum disorders (ASD), language delay (LD), and developmental delay (DD).
Study design
The Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist was distributed at every 1-year pediatric check-up; 137 pediatricians and 225 infants participated. Screens were scored immediately, and failures referred for further evaluation.
Results
Pediatricians screened 10 479 infants at the 1-year check-up; 184 infants who failed the screen were evaluated and tracked. To date, 32 infants received a provisional or final diagnosis of ASD, 56 of LD, nine of DD, and 36 of “other.” Five infants who initially tested positive for ASD no longer met criteria at follow-up. The remainder of the sample was false positive results. Positive predictive value was estimated to be .75.
Conclusions
The 1-Year Well-Baby Check-Up Approach shows promise as a simple mechanism to detect cases of ASD, LD, and DD at 1 year. This procedure offers an alternative to the baby sibling design as a mechanism to study autism prospectively, the results of which will enrich our understanding of autism at an early age.
doi:10.1016/j.jpeds.2011.02.036
PMCID: PMC3157595  PMID: 21524759
3.  Attitudes towards screening for lung cancer among smokers and their non‐smoking counterparts 
Thorax  2006;62(2):126-130.
Background
There has been resurgence of interest in lung cancer screening using low‐dose computed tomography. The implications of directing a screening programme at smokers has been little explored.
Methods
A nationwide telephone survey was conducted. Demographics, certain clinical characteristics and attitudes about screening for lung cancer were ascertained. Responses of current, former and never smokers were compared.
Results
2001 people from the US were interviewed. Smokers were significantly (p<0.05) more likely than never smokers to be male, non‐white, less educated, and to report poor health status or having had cancer, and less likely to be able to identify a usual source of healthcare. Compared with never smokers, current smokers were less likely to believe that early detection would result in a good chance of survival (p<0.05). Smokers were less likely to be willing to consider computed tomography screening for lung cancer (71.2% (current smokers) v 87.6% (never smokers) odds ratio (OR) 0.48; 95% confidence interval (CI) 0.32 to 0.71). More never smokers as opposed to current smokers believed that the risk of disease (88% v 56%) and the accuracy of the test (92% v 71%) were important determinants in deciding whether to be screened (p<0.05). Only half of the current smokers would opt for surgery for a screen‐diagnosed cancer.
Conclusion
The findings suggest that there may be substantial obstacles to the successful implementation of a mass‐screening programme for lung cancer that will target cigarette smokers.
doi:10.1136/thx.2005.056036
PMCID: PMC2111262  PMID: 17101739

Results 1-3 (3)