Conference Agenda

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Show all days | Wednesday | Thursday | Friday | Saturday | Sunday

2:00 PM – 3:15 PM in Chopin Ballroom


Spanish Translation Provided

Self-Regulation Across the Lifespan in FXS: Calming, Coping and Comforting

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

2:00 PM – 3:15 PM in Concourse II

Fragile X Genetics 101

Liane Abrams, MS, CGC, Brenda Finucane, MS, CGC

2:00 PM – 3:15 PM in Escorial / Alhambra

Adapting the Aberrant Behavior Checklist as an Outcome Measure for FXS Trials

Clinical Practice and/or Research
Validation of the Revised Aberrant Behavior Checklist for Fragile X Syndrome Using Randomized Controlled Data

Angel Angelov MD, MBA, Baltazar Gomez-Mancilla, MD, PhD

Psychometric Evaluation of the Aberrant Behavior Checklist Factor Structure in Fragile X Syndrome: A Multi-Site Collaborative Study

Stephanie Sansone

Prospective Open-Label Trial of Acamprosate in Youth with Fragile X Syndrome: A Pilot Study Incorporating Biomarker Assays

Craig Erickson, MD

2:00 PM – 3:15 PM in Raphael / Michaelangelo

Clinical Practice and/or Research
Longitudinal Analyses of Mood and Anxiety Disorders in Mothers with the FMR1 Premutation.

Jane E Roberts, PhD, Lindsay McCary, PhD, Bridgette Tonnsen, MA


2:00 PM – 3:15 PM in Sandringham / Windsor

Clinical Practice and/or Research
Sleep, Daytime Behaviors, and Functioning- Is There a Link?

Rebecca A Kronk, PhD

Language Production Over Time in Boys with Fragile X Syndrome with and Without Autism

Gary E Martin, PhD

Visual Issues in Fragile X

Rashelle Cohen

2:00 PM – 3:15 PM in Balmoral

Cellular Defects in FXS

Basic Science
Glial Activation in the Cerebellum of Fmr1 Knockout Mice

Laura KK Pacey, PhD

Altered mTOR Signaling and MMP-9 Expression Levels in Subjects with Fragile X Syndrome

Flora Tassone, PhD


3:15 PM – 3:45 PM

Wednesday Afternoon Break

3:45 PM – 5:00 PM in Chopin Ballroom


Spanish Translation Provided

Get to know the National Fragile X Foundation in an informal get-together!

Staff and Board of Directors

Getting the Most Out of the International Fragile X Conference – A get-together for those who want to maximize their learning and minimize their exhaustion

Jayne Dixon Weber, Arlene Cohen

3:45 PM – 5:00 PM in Sandringham / Windsor

Medication Use for Children With Fragile X Syndrome

Ave M. Lachiewicz, MD

3:45 PM – 5:00 PM in Raphael / Michaelangelo

Clinical Practice and/or Research
Effortful Control as a Predictor of Later ADHD Symptoms in Males with Fragile X Syndrome

Marissa L. Mounts

Sensory Processing Profiles and Problem Behaviors in Preschoolers with Fragile X Syndrome

Ashley N Robinson, MA

Quality of Life in Fragile X during the Transition from Adolescence to Adulthood

Zaynah Sadiq

The Role of Executive Functioning in Independent Living Skills in Individuals with Fragile X Syndrome

Arianna Martin, MS, Eve-Marie Quintin, PhD

3:45 PM – 5:00 PM in Concourse II

Panel Presentation

Clinical Practice and/or Research

Moderator: Brenda Finucane, MS, CGC

Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors

Liane Abrams, MS, CGC, Allyn McConkie-Rosell, PhD, CGC, Amy Cronister, MS, CGC

Fragile X Testing in 2012: Case Studies for How New Technologies Improve Detection of Methylation Mosaicism and Risk of Expansion

Jennifer Skeen, PhD

3:45 PM – 5:00 PM in Balmoral

Models for Premutation-Related Disease

Basic Science
An Isogenic, Epi-Isoautosomal Fibroblast Model to Investigate Premutation-Associated Cell Dysfunction.

Katarzyna A Koscielska

IPSC-Derived Neurons Reveal Cellular Phenotypes Directly Linked to the FMR1 Premutation

Jing Liu, PhD (A Conquer Fragile X Young Investigator)

A New Inducible Mouse Model for Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

Rob Berman, PhD

Aberrant Translation Drives Inclusion Formation in FXTAS

Peter K Todd, MD, PhD

3:45 PM – 5:00 PM in Escorial / Alhambra


6:00 PM – 8:00 PM

Welcome Reception

The plan is for this to be outdoors, weather permitting. There will be appetizers served along with a cash bar. We will have several suggestions of nearby dinner location which you can meet up with friends after the reception.

Topics, times and speakers are subject to change.
Updated: July 15, 2012