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National Institute of Child Health and Human Development (NICHD)

Inaugural World Congress on Chromosome Abnormalities
June 27 – June 30, 2004 • San Antonio, TX

Agenda Speakers


Sunday, June 27
10:00 a.m. Individual Board Meeting Time for Host Organizations
6:00 p.m. Slide Presentation
Kris Holliday
Monday, June 28
8:30 a.m. Welcome, Introductions, Meeting Goals
(Room 214 C/D)
9:00 a.m. Positive Exposure
Rick Guidotti (Room 214 C/D)
10:00 a.m. Difficult Behaviors and a Broken Heart
David Pitonyak, PhD (Room 214 C/D)
  What is a Phenotype?
John Opitz, MD (Room 213)
11:00 a.m. A Doctor’s Walk with Death
Martha Morse, MD (Room 205)
  Special Families
Robert Naseef, PhD (Room 206)
  Mobility Choices
Kacey Wernli ( Room 207)
  Consequences of Abnormal Gene Dosage
Charles Epstein, MD (Room 213)
12:00 noon Poster Session
Lay Advocacy Groups (Room 214 A/B)
2:00 p.m. Skyrocket Self Esteem in Kids
Greg Unterberger, MEd (Room 205)
  Neuropsychological Testing
Peg Semrud–Clikeman, PhD. (Room 206)
  Speech, At the Beginning”/Feeding Issues
April Smith (Room 207)
  Mechanisms of Genomic Disease
Beverly Emanuel, PhD (Room 213)
3:00 p.m. Smart Discipline
Greg Unterberger, MEd (Room 205)
Robert Naseef, PhD (Room 206)
  Speech & Language Delays
April Smith (Room 207)
  Dissecting Behavioral Phenotypes
Ursula Bellugi, EdD (Room 213)
4:30 p.m. An Uncertain Future: Exploring the Developmental Consequences of Rare Chromosome Disorders
Linda Gilmore (Room 205)
  IDEA & Your Rights
Paula Roalson, JD (Room 206)
Robert Naseef, PhD (Room 207)
  The Genetic Basis of Human Limb Defects
Michael Bamshad, MD (Room 213)
Tuesday June 29
8:30 a.m. The Power of Advocacy
Jannine Cody, PhD & Daniel Hale, MD (Room 214 C/D)
10:00 a.m. Community Building Through Humor and Song
David Roth (Room 205)
Peg Semrud-Clikeman, PhD (Room 206)
  Teaching Social Skills
Karen Reyes, MS (Room 207)
Tonie Kline, MD (Room 213A)
Carlos Bacino, MD (Room 213B)
11:00 a.m. Sensory Processing & Children with Developmental Disabilities
Karin Barnes, PhD & Allison Beck, PhD (Room 205)
Steven Pliszka, MD (Room 206)
  NIH Perspective
Mary Lou Oster-Granite, PhD (Room 207)
  Chromosome 22
Donna McDonald-McGinn, MS, CGC (Room 213A)
  The Senses
Bronya Keats, PhD (Room 213B)
12:00 noon Poster Session – Scientific Posters
(Room 214 A/B)
2:00 p.m. Starting a Lay Advocacy Group
Sharon Terry, MA ( Room 205)
  Visual Perception & Reading Issues
Jeanette Schwartz (Room 206)
  Financial Planning Can Change Your World
John Trusela (Room 207)
  Trisomy 18 & 13
John Carey, MD (Room 213A)
  The Use of Molecular Cytogenetic Technologies to Unravel the Complexities of Chromosomal Aberrations
Lisa Shaffer, PhD (Room 213B)
3:00 p.m. Fundraising 101
Michael Bacon (Room 205)
  Disgraphia & Writing Issues
Jeanette Schwartz (Room 206)
  Food Allergies & Behavior
Ted Kniker, MD (Room 207)
  Trisomy 21
David Patterson, PhD (Room 213A)
  Endocrinology & Metabolism
Gerry Berry, MD (Room 213B)
4:30 p.m. Treatment Options for Behavioral Aggression
Giancarlo Ferruzzi, MD (Room 205)
  It's All About Gifts: Challenging the Pity Paradigm
Jeff Garrison Tate, MEd (Room 206)
  Exploring Asperger’s
Pat Harkins, MD (Room 207)
  Chromosome 16/ Iso 15/ T10q
Peter Benn PhD, Schanen , and Anderson (Room 213A)
  Using Imaging to Describe, Quantify and Understand Chromosomal Abnormality Phenotypes
Joan Richtsmeier, PhD (Room 213B)
Wednesday, June 30
8:30 a.m. Adults with Chromosome Abnormalities Panel Presentation
Moderator: John Carey, MD (Room 214 C/D)
10:00 a.m. Pottying /Sleep~Solutions for Common Pediatric Problems
G. Scott Cuming, MD (Room 205)
  Developmental Milestones Red Flags For Development: When You Need to Worry
Pat Harkins, MD (Room 206)
  Panel Format: Dental/Cardiology Issues
Charles Hermesch, DDS and Paul Grossfeld, MD (Room 207)
  18q-/18p-/Tetrasomy 18p
Daniel Hale, MD (Room 213A)
  Data Integration & Bioinformatics
Peter Tonellato, PhD (Room 213B)
11:00 a.m. Faith Lifts: Food for Thought
David Roth (Room 214 C/D)
Stuart Schwartz, PhD (Room 213A)
2:00 p.m. Panel Format: Orthopedic/Neurology~Seizure Issues
Sid Atkinson, MD (Room 205)
  “Regular Kids” & Nutrition
Deborah Neigut, MD (Room 206)
  Chromosomes & Molecular Cytogenetics
Lisa Shaffer, PhD (Room 207)
Paul Grossfeld, MD ( Room 213A)
  Quantifying Social Deficits in Developmental Disorders
Catherine Lord, PhD (Room 213B)
3:00 p.m. Panel Format: Ear & Hearing Issues/Eye Care for your Child, What are the Possibilities?
Brian Perry, MD and Steve Cantrell, OD (Room 205)
  Understanding Grief and Loss
Peg Armstrong, MEd, LPC (Room 206)
  Power in Medical Decision Making
Gerri Alston Meggett (Room 207)
Agatino Battaglia, MD (Room 213A)
  Cognitive Neuroscience
Carolyn Mervis, PhD (Room 213B)
4:30 p.m. Wrap up: Talk the Talk and Make a Difference
Mary Rauch (Room 214 C/D)
  Wrap up
Daniel Hale, MD; Jannine Cody, PhD; & John Carey, MD (Room 213A)

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Family Speakers

Rick Guidotti

David Pitonyak, Ph.D.

Martha Morse, M.D.

Peg Semrud-Clikeman, Ph.D.

Robert Naseef, Ph.D.

Casey Wernli, P.T.

Greg Unterberger, M.Ed.

April Smith M.A., CCC

Linda Gilmore

Paula Roalson, J.D.

David Roth

Karen Reyes, M.S.

Karin Barnes, Ph.D.

Steve Pliszka, M.D.

Sharon Terry

Jeannette Schwartz, M.S., OTR

John Trusela, M.B.A., ChFC, CCPS

John Carey, M.D.

Ted Knicker, M.D.

Jeff Garrison Tate, M.Ed.

G. Scott Cuming, M.D.

Chris Johnson, M.D.

Mary Lou Oster-Granite, Ph.D.

Pat Harkins, M.D.

Charles Hermesch, D.D.S.

Paul Grossfeld, M.D.

Brian Perry, M.D.

Steve Cantrell, O.D.

Deborah Neigut, M.D.

Lisa Schaffer, Ph.D.

Gerri Alston-Meggett, D.M., M.B.A., B.S.

Mary Rauch, M.A.

Sid Atkinson, M.D.

Scientific Speakers

John Optiz, M.D.
University of Utah Medical School

John C. Carey, M.D.
University of Utah Medical School

Daniel E. Hale, M.D.
UT Health Science Center at San Antonio

Jannine D. Cody, Ph.D.
UT Health Science Center at San Antonio

Antonie D. Kline, M.D.
Sinai Hospital of Baltimore

Paul Grossfeld, M.D.
University of California, San Diego

Peter Benn, Ph.D.
University Connecticut Health Center

Stuart Schwartz, Ph.D.
Case Western Reserve University

Charles J. Epstein, M.D.
University of California, San Francisco

David Patterson, Ph.D.
Eleanor Roosevelt Institute, Denver

Ursula Bellugi, Ed.D.
Salk Institute

Donna McDonald-McGinn, M.S., C.G.C.
Children's Hospital of Philadelphia

Agatino Battaglia, M.D.
University of Pisa, Pisa, Italy

Lisa G. Shaffer, Ph.D.
Baylor College of Medicine

Michael J. Bamshad, M.D.
University of Utah

Beverly S. Emanuel, Ph.D.
Children's Hospital of Philadelphia

Gerard T. Berry, M.D.
Children's National Med Center, George Washington University

Joan T. Richtsmeier, Ph.D.
Pennsylvania State University

Peter J. Tonellato, Ph.D.
Medical College of Wisconsin

Bronya J. Keats, Ph.D.
Louisiana State University Health Science Center

Carolyn B. Mervis, Ph.D.
University of Louisville

Catherine Lord, Ph.D.
University of Michigan

David Patterson, Ph.D.
University of Denver

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Last Reviewed: December 2, 2004
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