Module 1: Screening & Diagnosis

Learning Objectives for Module 1:
  1. Introduce specific tools that are foundational to diagnosis and assessment of youth with emotional and behavior problems consistent with autism spectrum, including the Autism Diagnostic Observation Schedule (ADOS), Childhood Autism Rating Scale (CARS), developmental and behavioral pediatrics (DBP) screenings, and additional neuropsychological testing.
  2. Introduce the role of genetics in supporting the assessment and screening for youth diagnosed on the autism spectrum, including genetic disorders that are comorbid with autism spectrum disorder.
  3. Identify key aspects of communicating with youth diagnosed on the autism spectrum and their families regarding assessment and screening.
Module 1 PowerPoint Slides:
Supplementary Video(s):

This module includes:
An overview of Autism Spectrum Disorder for Transitional Age Youth by Dr. Marilyn Augustyn, MD.

An ADOS 3 testing example conducted by Dr. Naomi Steiner, MD.

An overview of the genetics evaluation is presented by Dr. Jodi Hoffman, MD.

Some general tips for trainees:

Bargiela, S., Steward, R., & Mandy, W. (2016). The experiences of late-diagnosed women with autism spectrum conditions: an investigation of the female autism phenotype. Journal of autism and developmental disorders, 46(10), 3281-3294.

Lewis, L. F. (2016). Realizing a diagnosis of autism spectrum disorder as an adult. International Journal of Mental Health Nursing, 25(4), 346-354.

Lord, C., Rutter, M., DiLavore, P. C., Risi, S., Gotham, K., & Bishop, S. (2012). Autism diagnostic observation schedule: ADOS-2. Los Angeles, CA: Western Psychological Services

Lord, C., Rutter, M., & Le Couteur, A. (1994). Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of autism and developmental disorders, 24(5), 659-685.

Mordre, M., Groholt, B., Knudsen, A. K., Sponheim, E., Mykletun, A., & Myhre, A. M. (2012). Is long-term prognosis for pervasive developmental disorder not otherwise specified different from prognosis for autistic disorder? Findings from a 30-year follow-up study. Journal of autism and developmental disorders, 42(6), 920-928.

Robison, J. E. (2013). Social Communication Disorder—is it ‘‘Autism Lite?’’. Psychology Today. April, 25.

van Niekerk, M. E., Groen, W., Vissers, C. T. W., van Driel-de Jong, D., Kan, C. C., & Voshaar, R. C. O. (2011). Diagnosing autism spectrum disorders in elderly people. International Psychogeriatrics, 23(05), 700-710.

Wilkinson, L. A. (2016). A Best Practice Guide to Assessment and Intervention for Autism Spectrum Disorder in Schools. Jessica Kingsley Publishers.

Yates, K., & Le Couteur, A. (2013). Diagnosing autism. Paediatrics and Child Health, 23(1), 5-10.

Articles on Genetics & ASD/ID:

Ch’ng, C., Kwok, W., Rogic, S., & Pavlidis, P. (2015). Meta‐Analysis of Gene Expression in Autism Spectrum Disorder. Autism Research, 8(5), 593-608.

Hens, K., Peeters, H., & Dierickx, K. (2016). The ethics of complexity. Genetics and autism, a literature review. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 171(3), 305-316.

LoParo, D., & Waldman, I. D. (2015). The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis. Molecular psychiatry, 20(5), 640.

Marco, E. J., & Skuse, D. H. (2006). Autism-lessons from the X chromosome. Social Cognitive and Affective Neuroscience, 1(3), 183-193.

Patak, J., Zhang-James, Y., & Faraone, S. V. (2016). Endosomal system genetics and autism spectrum disorders: A literature review. Neuroscience & Biobehavioral Reviews, 65, 95-112.

Richards, C., Jones, C., Groves, L., Moss, J., & Oliver, C. (2015). Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis. The Lancet Psychiatry, 2(10), 909-916.

Schaefer, G. B., Mendelsohn, N. J., & Professional Practice and Guidelines Committee. (2013). Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genetics in Medicine, 15(5), 399-407.