Conference Agenda

The Story Behind the mGluR5 Theory of Fragile X: How Basic Research Led to Clinical Trials

Kimberly M. Huber, PhDearned a PhD in Neurobiology from the University of Texas Graduate School of Biomedical Sciences and completed her postdoctoral training with Dr. Mark Bear at Brown University. She joined the faculty at University of Texas Southwestern Medical School in 2001 where she is currently an associate professor. Dr. Huber’s career has focused on cellular mechanisms of mammalian synaptic plasticity and development in the normal brain and in the fragile X syndrome mouse model (Fmr1 knockout mice). As a postdoc, Dr. Huber studied metabotropic glutamate receptor (mGluR) dependent synaptic plasticity and discovered enhanced mGluR5 function in Fmr1 knockout mice. This discovery led to ongoing clinical trials using mGluR5 antagonists in FXS patients. More recently, Dr. Huber’s research has focused on determining how Fragile X Mental Retardation Protein (FMRP) regulates synapse development, plasticity and circuit function in the mouse brain. Her work has also contributed to the understanding of the cellular and molecular basis of altered mGluR function in FXS which provides novel avenues for therapeutic development.

9:00 AM – 9:30 AM

Positive Exposures

Rick Guidotticompleted his education in photography and film-making at New York’s School of Visual Arts and established a studio in Manhattan, specializing in portraiture and fashion for 15 years. During that period he also worked in Milan, Paris and London for clients such as Yves Saint Laurent, Elle, Harpers Bazaar, Revlon, L’Oreal and Life Magazine.

In 1998, Rick founded Positive Exposure, a non profit organization, that challenges stigma associated with difference by pioneering a new vision of the beauty and richness of genetic diversity. Rick’s photo essay “Redefining Beauty” in Life Magazine won the Genetic Alliance’s “Art of Reporting” award.

The body of work entitled “Positive Exposure, The Spirit of Difference” premiered at the People’s Genome Celebration, June 2001, at the Smithsonian’s National Museum of Natural History in DC. and continues to exhibit in galleries, museums and public arenas internationally.

In addition to the exhibition, Rick has developed a lecture series targeting medical schools, nursing and genetic counseling programs as well as universities, elementary and secondary schools worldwide. The lecture series has recently expanded to include a diversity workshop and was introduced at MTV headquarters. Rick is based in New York City.

Early Morning Break

A Roast to Males with FXS

Michael Cohen, Aaron Heisel, Nick Hertzog

Residential Placement for Your School-Aged Child

Andy Selinger, Tammy Selinger

What Might the Future Hold for My Child with Fragile X Syndrome?: Stories and Lessons Learned Through the Duke Fragile X Clinic

Gail A. Spiridigliozzi, PhD, Ave M. Lachiewicz, MD, Allyn McConkie-Rosell, PhD, CGC, Debra J. Burgess

Forward Focus: Positive Behavioral Momentum in Action

Cindi R. Rogers, Tracy M. Stackhouse, MA, OTR/L, Sarah K. Scharfenaker, MA, CCC-SLP

Starting, Synchronizing and Stopping Actions and Feelings

Tracy M. Stackhouse, MA, OTR/L, Sarah K. Scharfenaker, MA, CCC-SLP

Toilet Training Your Child

Jennifer H. Epstein, PsyD, Karen Riley, PhD

Symposium: Utilizing Technology to Maximize Learning: Part I

Moderator: David Salomon

Now That’s An App!

Dawn Rohlik, OTR/L

Fragile X and Use of Apps

Laurie Yankowitz, Ed.D, Vicki Sudhalter, PhD

Our Fragile X World: Using Survey Research to Understand the Nature and Consequences of Fragile X

Melissa Raspa, PhD, Anne Wheeler, PhD

Late Morning Break

TBD

Living the Fragile X Way

Sarah K. Scharfenaker, MA, CCC-SLP, Tracy M. Stackhouse, MA, OTR/L

Adults in Action: Services and Strategies for Successful Living

Tracy Stackhouse, MA, OTR/L, Sarah Scharfenaker, MA, CCC-SLP

Setting the Stage for Success: Effective Strategies to Support Behavior and Learning in School-Aged Students with Fragile X Syndrome

Barbara Haas-Givler, MEd, BCBA

Making Fundraising Fun

Holly Usrey-Roos

How to Organize an Educational Seminar

Andy Selinger, Tammy Selinger

Why We Love People with Fragile X Syndrome

Vicki Sudhalter, PhD, Susan Cohen

Symposium: Utilizing Technology to Maximize Learning: Part II

Moderator: Robert M. Miller

We Care: An application for building “care packages” and using private social networks to empower people with special needs

Faheem Ahmed

Panel: An interactive discussion amongst technology proponents

Faheem Ahmed, Dawn Rohlik, OTR/L, Laurie Yankowitz, PhD, Kerrie Lemons Chitwood, CCC-SLP, Laura Greiss Hess, OTR/L

The Influence of Hyperactivity, Impulsivity, and Attention Problems on Social Skills in Adolescents and Young Adults with Fragile X Syndrome

Lindsay C. Chromik, MS, Eve-Marie Quintin, PhD

AD/HD and FXS: Conceptualizing & Diagnosing AD/HD Using the DSM IV TR; and Explore AD/HD in an Australian Clinical Sample

Astra King

Math and Conservation in Children with FXS

Pamela K. Gallego, MA

TBD

Lunch

It’s Not About My Kids; It’s About Me

Facilitated by Arlene Cohen with Randi Hagerman, MD

An informal discussion about symptoms that carrier mothers may be experiencing. In additional, there will be a Q&A session and please bring your own lunch.

iCanChat: Creating Meaningful Language Experiences Through Assistive Technology

Monica Dowling, PhD, Michelle Schladant, PhD

Finding My Voice: Helping Individuals with Fragile X Syndrome Become Better Communicators with LAMP and AAC

Michelle Schladant, PhD, Monica Dowling, PhD

Bringing out the Best in Fragile X through Person-Centered IEP Transition Planning

Laurie Yankowitz, Ed.D.

How to Think like an OT at Home!

Kristin Burgess, MS, OTR/L

Family Issues From the Sibling Perspective

Kristin Burgess, MS, OTR/L, Cassie Weber

Dental Issues in the Fragile X Population

Edward Lee Perlow, DDS, PC

Sex in the City Is Not Just a Miami Vice

Brenda Finucane, MS, CGC, Marcia L. Braden, PhD

Using RtI to Improve and Advance Evidence Based Educational Interventions

Karen Riley, PhD

Behavioral Intervention for Problem Behavior in Children With Fragile X Syndrome

Lauren J. Moskowitz, MA

TBD

Afternoon Break

Bringing You Protected Tomorrows: Your Journey Through an Eight Step Special Needs Planning Program

Mary Anne Ehlert

Hands-On “Make & Take” of Visual Support Tools:  How to Translate Fragile X Clinic Recommendations to the “Real World”*

Deby Burgess, Kristin Burgess, OTR/L, Ave Lachiewicz, MD, Gail Spiridigliozzi, PhD, Allyn McConkie-Rosell, PhD, Dawn Rohlik, OTR/L

* This session is repeated from Thursday at 9:45 AM

Language Development and Intervention in Children with Fragile X Syndrome: Research Findings and Strategies for Parents

Leonard Abbeduto, PhD, Andrea McDuffie, PhD

Talking to Students about Fragile X Syndrome

Holly Usrey-Roos

My Hands Can Write! My Fingers Can Tie!

Jamie McGrew, MS, OTR/L, Tracy M. Stackhouse, MA, OTR/L

Moving Forward with the NFXF: Q&A with Representatives from the Team and Board

Robert Miller

Evidence Based Practice Research for Educational and Therapeutic Interventions in Fragile X Syndrome

Gail Harris-Schmidt, PhD, CCC-SLP, Marcia Braden, PhD

Banquet Reception

Cash Bar and Silent Auction

Banquet

Dinner, Dancing, Silent and Live Auctions.