Course Title: CE Workshop 06 - Cognitive and Behavioral Phenotypes Associated with Neurogenetic Syndromes (Lee)


Credit Hours: 1.5


Instructor(s) Nancy Raitano Lee


Nancy Raitano Lee, PhD
Assistant Professor
Department of Psychology
Drexel University

CE Workshop # 6:


Cognitive and Behavioral Phenotypes Associated with Neurogenetic Syndromes

Abstract & Learning Objectives:

The past 30 years have witnessed an increase in research on ’behavioral phenotypes’ associated with different neurogenetic disorders. Rather than describe youth with intellectual and learning disabilities with regard to their degree of impairment, an etiology-driven approach has been increasingly used to characterize the cognitive and behavioral challenges associated with specific neurogenetic syndromes. This talk will provide an overview of the cognitive and behavioral phenotypes associated with neurogenetic syndromes (e.g., Williams, fragile X, and Smith-Magenis syndromes) that may be encountered in neuropsychological practice. Then an in depth review of Down syndrome and sex chromosome disorders (e.g., Klinefelter and Trisomy X syndromes) will be provided. In particular, research on their neuroanatomical and neuropsychological phenotypes will be reviewed, with an emphasis on language, social, and executive function and the use of measures to describe everyday behavior in these domains. A review of common psychiatric (e.g., autism and ADHD) and medical (e.g., sleep, heart abnormalities) comorbidities and their relations to cognition and behavior in these groups will also be provided in order to draw attention to the need to screen for these conditions when evaluating youth with these disorders.


Upon conclusion of this course, learners will be able to:

  • Describe the major cognitive-behavioral features of Williams, fragile X, and Smith-Magenis syndromes
  • List the major features of the Down syndrome neuroanatomical phenotype and its relevance to the syndrome’s cognitive profile
  • Discuss the language and executive function profiles associated with Down syndrome and two sex chromosome disorders (Klinefelter and Trisomy X syndrome)
  • Explain the importance of screening for different medical and psychiatric comorbidities when evaluating individuals with Down syndrome and sex chromosome disorders

Speaker Biography:

Dr. Nancy Raitano Lee is a licensed psychologist who specializes in developmental neuropsychology. She received her Bachelor of Science Degree with Honors and Distinction in Human Development and Family Studies from Cornell University and her doctorate in Child Clinical Psychology from the University of Denver. Her clinical training includes the completion of a pre-doctoral internship at the Children’s Hospital of Colorado and a post-doctoral fellowship at the University of Colorado School of Medicine’s Center for Excellence in Developmental Disabilities. Following her training in psychology, Lee completed a fellowship at the National Institute of Mental Health focused on the use of structural neuroimaging to study the developing brain in youth with neurogenetic disorders.
As a child psychologist working within a developmental cognitive neuroscience framework, Lee’s research program aims to augment knowledge about the causes and correlates of developmental learning disorders through the use of innovative neuropsychological and neuroimaging technologies. Much of her research over the past several years has focused on two interrelated areas of investigation: (a) dissecting the cognitive underpinnings of neurodevelopmental disorders and (b) characterizing the biological correlates of chromosomal disorders, including Down syndrome and sex chromosome aneuoploidies.
Dr. Lee’s research has been supported by both private foundations and federal agencies. She is very involved in the intellectual and developmental disabilities as well as neuropsychology scientific communities. She served for five years as an associate editor for the American Journal on Intellectual and Developmental Disabilities, is a member of the executive board of the Gatlinburg conference on Intellectual and Developmental Disabilities, and serves on the International Neuropsychological Society Continuing Education committee.