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

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

Fragile X Genetics 101

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

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

Longitudinal Analyses of Mood and Anxiety Disorders in Mothers with the FMR1 Premutation.

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

TBD

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

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

TBD

Wednesday Afternoon Break

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

Medication Use for Children With Fragile X Syndrome

Ave M. Lachiewicz, MD

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

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

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

TBD

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.

GABA-A, GABA-B, mGluR, MMP – What’s This Mean? Come & See!

Elizabeth Berry-Kravis, MD, PhD ^[8]is a Professor of Pediatrics, Neurology, and Biochemistry at Rush University Medical Center in Chicago and has worked in the fragile X field for the past 20 years. She received a BS (Chemistry) from the University of Notre Dame in 1979, PhD (Biochemistry) in 1983 and MD in 1985 from the University of Chicago, completed Pediatrics Residency in 1987 and Pediatric Neurology fellowship in 1990, also at the University of Chicago, and moved to Rush University Medical Center in 1992. She is Board Certified in Neurology with Special Qualifications in Child Neurology and in Pediatrics. She established the comprehensive Fragile X Clinic and Research Program in 1991, through which she now provides care and support to over 450 patients with fragile X syndrome (FXS) for management of neurological, medical, and behavioral and genetic issues. She established the Fragile X Associated Disorders Program at Rush in 2010, adding clinics for the care of patients with fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI). She is internationally recognized for both research and clinical work on FXS and FXTAS and her clinical research projects have included studies of medical issues, epilepsy and psychopharmacology in FXS, clinical trials of new promising medications in FXS, development of outcome measures and biomarkers for such trials in the FXS population, and characterization of neurological problems in FXTAS and clinico-molecular correlations and markers of disease in fragile X carriers. Her laboratory research involves studies of effects of fragile X mental retardation protein (FMRP) on signal transduction mechanisms in peripheral and neural cells, as well as methods for optimizing genetic testing in fragile X-associated disorders. She has had NIH funding nearly continuously since 1994, including a current NIH-funded grant for newborn screening with UC Davis, and has over 100 peer-reviewed publications. She co-directs the Molecular Diagnostics Laboratory at Rush, which is a CAP and CLIA-certified DNA diagnostic laboratory that runs molecular tests for diagnosis of numerous genetic conditions and has run the FMR1 gene test for diagnosis of FXS for the past 17 years. She is on the Advisory Board for both the FRAXA Research Foundation and the National Fragile X Foundation, is the Chair of the Clinical Committee of the Fragile X Clinical and Research Consortium (FXCRC), and is on the Board of Directors for the National Fragile X Foundation. She received the Jarrett Cole Award for clinical work in fragile X in 2002, the Hagerman Award for FXTAS research in 2004, and the FRAXA Champion Award in 2011 for translational work in targeted treatment of FXS.

9:00 AM – 9:30 AM

You are Never Too Old to Wear a Pink Tutu and Other Lessons Our Son Has Taught Our Family

Please bring your favorite capt with a sports’ team on it.
Jayne Dixon Weber ^[9]is the Support Services Coordinator for the National Fragile X Foundation. She is also the parent of 2 children, one of whom is a 24 year old young man who has fragile X syndrome. She published the book – Transitioning ‘Special’ Children Into Elementary School, not long after her son started kindergarten. She is also the editor of the book – Children with Fragile X Syndrome: A Parents’ Guide. She has developed numerous Fragile X materials that are available on the NFXF website, and she has presented at several international conferences. She is always looking for ways to help families as they learn about Fragile X.

Early Morning Break

Clinical Trials of New Medicines Targeting Brain Mechanisms in Fragile X Syndrome

Elizabeth Berry-Kravis, MD, PhD, Randi Hagerman, MD

Fragile X Syndrome: The Never-ending Story / Síndrome X Frágil: La Historia Interminable

Feliciano J. Ramos, MD, PhD

Fragile X Síndrome Through Our Experience With Guillem, Our Son

Merce Bellavista Gurri, RN

I Did It In South-Latin America, So You Can Do It Too… Wherever You Live

Daniela Sniadower, IS Engineer

Mrs. Rogers Neighborhood

Cindi R. Rogers

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 on Saturday at 3:45 PM

Theory of Mind, Episode Memory and Meta-Memory Among Adults with Intellectual Disability, Down Syndrome, and Fragile X versus Children with Typical Development

Hefziba Lifshitz-Vahav, PhD

Agreement of Clinical and Research Diagnoses of Autism among Boys and Girls with Fragile X Syndrome

Jessica Klusek, MS

Autistic-like Behavior is Associated with Poorer Outcomes in Daily Living Skills in Adolescents and Young Adults with Fragile X Syndrome

Kristin Hustyi, MA, BCBA, Eve-Marie Quintin, PhD

A Japanese Collaborated Study for Fragile X Syndrome and its Related Disorders

Yuji Nakayama, PhD

Fragile X and the World of Newborn Screening Policy

Alex Kemper, MD, Rodney Howell, MD

The Effect of Cognitive Functioning, Age, and Molecular Variables on Brain Structure Among Carriers of the Fragile X Premutation: Deformation Based Morphometry and Structural Brain Network Study

Naomi J. Goodrich-Hunsaker, PhD, Tony J. Simon, PhD

Differences in Brain Activation During Temporal Working Memory Processing in Fragile X Premutation Carriers

So-Yeon Kim, PhD, Tony J. Simon, PhD, Susan Rivera, PhD

A Multimodal Imaging Study of Subcortical Gray Matter Abnormalities in Fragile X Premutation

Jun Yi Wang, PhD, Susan M. Rivera, PhD

The Insula Sign in Male Fragile X Premutation Carriers, Both With and Without FXTAS

Patrick E. Adams

Late Morning Break

Bridging Gaps- Optimizing the Needs of Minority Families with Fragile X Syndrome

Jeannie Visootsak, MD, Heather Clark, MS, Jean McColl, Lillie Huddleston, EdS

School-Based Interventions and Considerations for IEP Planning

Marcia Braden, PhD, Heather Hughes, PhD

TBD

Visual Wizardry: Best Practice Supports for Individuals with FXS

Jennifer H. Epstein, PsyD, Sarah K. Scharfenaker, MS, CCC-SLP, Tracy M. Stackhouse, MA, OTR/L

Prevalence of CGG Expansions of the FMR1 Gene in a US Population-Based Sample

Marsha Mailick Seltzer, PhD, Matt Maenner, PhD

AGG Analysis of Normal, Intermediate and Premutation FMR1 Alleles

Carl Dobkin, PhD

AGG Analysis of Intermediate and Small Premutation Alleles Reclassifies the Risk for Expansion

Carl Dobkin, PhD

The Importance of AGG Interruptions in Risk Assessment of Maternal FMR1 Premutation

Carolyn M. Yrigollen

Family Perspectives on FX Newborn Screening

Debra Skinner, PhD, Myra Roche, CGC, Anne Wheeler, PhD

Single Molecule Imaging of PSD-95 Mrna Local Translation and its Dysregulation in a Mouse Model of Fragile X Syndrome

Marius Ifrium, MD, PhD (A Conquer Fragile X Young Investigator)

Proapoptotic Mechanism Mediated by Fragile X Mental Retardation Protein

Mika Kinoshita, MD, PhD (A Conquer Fragile X Young Investigator)

Axonal β-catenin mRNA is a circuit-selective cargo of Fragile X granules

Mike Akins, PhD (A Conquer Fragile X Young Investigator)

Lunchtime Workshops for Family Members

• Mothers
• Fathers
• Siblings
• Grandparents and other Relatives
• Parents of Adult Children
• Parents of Children Who are Non-Verbal

Each of these informal workshops will have a facilitator.

Managing Stress and Decreasing Anxiety: For Caregivers of Individuals Affected by FXS

Jennifer Epstein, PsyD

Professional Provider Or Parent: Which Lane Am I In?

Tim Geels

FXS and Autism: Clinical Insights into the Similarities and Differences for Diagnosis and Treatment

Tracy Stackhouse, MA, OTR/L, Walter Kaufman, MD, Sarah Scharfenaker, MA, CCC-SLP, Richard Belser, PhD

The Importance of Connecting with Others on Your Fragile X Journey, Part 1: How Social Media and Technology can Foster Relationships that Last a Lifetime

Holly Usrey-Roos, Paula Fasciano, Melissa Welin

The Importance of Connecting with Others on Your Fragile X Journey, Part 2: Putting Ideas into Action, Connecting at the Conference

Holly Usrey-Roos, Paula Fasciano, Melissa Welin

Life Planning 101– Basics on Estate Planning With or Without Children with Special Needs – Wills, Trusts, Guardianship, Medicaid, SSI, & SSDI

Lee F. Hediger, Daniel A. Terner, Esq.

Treating Fragile X Syndrome with STX209 (Arbaclofen): Long-Term Open-Label Experience

Randi J. Hagerman, MD, Elizabeth Berry-Kravis, MD, PhD

Disease Modifying Effects of STX209 in a Mouse Model of Fragile X Syndrome

Friso Postma, PhD

Newborn Screening for Fragile X: Prevalence and Distribution of Expanded Intermediate and Premutation FMR1 Alleles

Flora Tassone, PhD

A New Screening Test for Fragile X Syndrome: Quantitative Measurement of FMRP in Dried Blood Spots

Giuseppe LaFauci, PhD

Newborn Screening for FMR1 Mutations

Louise W. Gane, MS

Family Experiences and Perspectives of Fragile X Newborn Screening and Cascade Testing

Kirin Basuta

Current Symptoms of Autism in Fragile X Syndrome: A Between-Disorder Comparison Using the Autism Diagnostic Interview-Revised

Andrea McDuffie, PhD, CCC-SLP

Repetitive Behaviors in Young Boys with Fragile X Syndrome: A Comparison with Autism Spectrum Disorders Using the Repetitive Behavior Scale – Revised

Ashley C. Oakes, MS

Relationship of Maternal Affect During Play to the Language of Children with Fragile X Syndrome, Autism, or Typical Development

Beth Goodlin-Jones, PhD

Challenging Behaviors and Psychiatric Symptoms in Fragile X Syndrome: A Comparison with Autism Using the Anxiety, Depression, and Mood Scale

Angela E. John, PhD

Afternoon Break

Assistive Technology: Increase Your Savvy (Part 1)

Kerrie Lemons Chitwood, CCC-SLP, Laura Greiss Hess, OTR/L

Assistive Technology: Increase Your Savvy (Part 2)

Kerrie Lemons Chitwood, CCC-SLP, Laura Greiss Hess, OTR/L

The Fragile X Clinical and Research Consortium: Learn about the FXCRC and how it is evolving. Ask questions of the panel members and share your comments and observations.

Robert Miller, Sharon Kidd, PhD, Elizabeth Berry-Kravis, MD, PhD, Jonathan Picker, MD, PhD, Walter Kaufmann, MD, Howard Andrews, PhD

TBD

Hands-On Hyperarousal Workshop: What it Feels like to be Hyperaroused!

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

Visual Processing of Complex Social Scenes in Women with the FMR1 Premutation

Abigail L. Hogan-Brown

Impaired Visuospatial Processing in Young Adult Male Fragile X Premutation Carriers

Ling M. Wong, Tony J. Simon, PhD

Impaired Visuospatial Processing in Young Adult Female Fragile X Premutation Carriers and Emerging Trends in Children

Yingratana McLennan, Tony J. Simon, PhD

Memory Functioning in Male Premutation Carriers without FXTAS

Cindy Johnston, MS, CGC

Neurocognitive Spectrum in Young Males with the Fragile X Premutation

Susan Harris, MS

Antinuclear Antibodies in Fragile X Syndrome Patients Treated with Minocycline

Nuva Rafika,

A Double Blind, Placebo Controlled Crossover Trial of Minocycline in Children with Fragile X Syndrome

Mary Jacena Leigh, MD (A Conquer Fragile X Young Investigator)

Efficacy Measures of Minocycline on Visual Processing and Spatial Reasoning in Children and Adolescents with Fragile X Syndrome.

Jessica L. Burris

Electrocortical Changes during a Double Blind, Placebo Controlled Trial of Minocycline in Children with Fragile X Syndrome

Andrea Schneider, PhD

Panel Presentation

Moderator: Steven F. Warren, PhD

The Role of Parents in Enhancing the Language Development of Children with Fragile X Syndrome

Steven F. Warren, PhD, Nancy Brady, PhD

The Family Context of FXS in Adolescence and Adulthood

Marsha Mailick Seltzer, PhD, Leann Smith, PhD
Discussant: Don Bailey, PhD

1) Recombinant Fusion Protein(s) for Absolute FMRP Quantification in Human Tissue by Capture Immunoassay

Tatyana Adayev, PhD (A Conquer Fragile X Young Investigator)

2) Evaluation of Brain Function with 1H Magnetic Resonance Spectroscopy in Patients with Fragile X Syndrome

Mehmet Alikasifoglu, MD, PhD

3) Multidisciplinary Management Of Patients With Fragile X Syndrome And Cascade Screening Of Families – First Experience In Chile

Angelica Alliende, M Sc

4) Clinical Studies with the Metabotropic Glutamate Receptor Antagonist AFQ056/ Mavoglurant in Adults and Adolescents with Fragile X Syndrome

Angel Angelov MD, MBA

5) Evaluation of Cogmed Working Memory Training in Fragile X Syndrome

Jacky Au

6) A Case Report of Fragile X Syndrome Lacking Gene Expansion

Mislen Bauer, MD, Claire Adkins, MS, Katherine Schain, CGC

7) Medication Utilization for Targeted Symptoms in Children and Adults with Fragile X Syndrome: U.S. Survey

Elizabeth Berry-Kravis, MD, PhD

8) Blood Platelets for the Quantitative Measurement of FMRP for Diagnostic or Screening Applications

Artuela S. Caku, MD, Francois Corbin, MD, PhD

9) Side Effects of Minocycline Observed During a Double Blind, Placebo Controlled Trial of Minocycline in Children with Fragile X Syndrome

Tasleem Chechi

10) Social and Behavioral Functioning of Children and Adults with Fragile X Syndrome: Results of National Survey Research

Kristin Cooley, M.Ed, Erin Richard, MA, MS SLP

11) A phase II Randomized Placebo-controlled Double-blind Pilot Clinical Trial to Test the Safety and Effectiveness of Ascorbic Acid and Alpha-tocopherol on Behavioral and Learning Problems in the Fragile X Syndrome

Yolanda de Diego-Otero, PhD

12) Rational Design of Bioactive Small Molecules Targeting r(CGG)exp in FXTAS and FXS

Matthew David Disney, PhD

13) Communication in Families with Fragile X Syndrome

Anne M. Edwards

14) Diabetes Type II in Fragile X Premutation Carriers with and without FXTAS

Jessica L. Famula, MS

15) Surgency and ADHD Features in Young Males with FXS

Marjorie L. Grefer

16) Participation of Hispanic Families in Newborn Screening for FXS Study: Why Do It?

Sonia Guarda, MS

17) Evaluation of a Laboratory Developed Assay Design for Determination of the Methylation Status of the FMR1 Promoter

Aaron T. Hamilton, PhD

18) Sleep Apnea in Fragile X Premutation Carriers with and without FXTAS

Alyssa Ann Hamlin

19) Restless Legs Syndrome in Premutation Carriers with and without FXTAS

Emma B. Hare

20) Current Maternal Depressive Symptoms and Adaptive Behaviors in Young Children with Fragile X Syndrome

Alexandra Marie Ingram

21) Lithium Ameliorates Behavioral and Physiological Phenotypes of Fragile X Syndrome in Fmr1 Knockout Mice

Margaret K. King

22) Characteristics of Fragile X Syndrome in Two Children with the Gray Zone Allele and One Boy with the Fragile X Premutation

Ave M. Lachiewicz, MD

23) The New Zealand Fragile X Clinical Forum: Using a Video Conferencing Model

Andrea Lee

24) The Role of MSH2, a Mismatch Repair Protein, in Repeat Expansion in a Fragile X Premutation Mouse Model

Rachel Lokanga (A Conquer Fragile X Young Investigator)

25) Signaling Noncomprehension of a Spoken Message in Children with Fragile X Syndrome and Autism

Sara McGrath

26) Cortisol and Stress in Fragile X Premutation Carriers

Ashwini P. Mulgaonkar

27) Hypertension in FMR1 Premutation Males with and without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

Lindsey C. Partington

28) Identification of Novel Noncoding Transcripts Produced from the FMR1 Locus

Chiara Pastori, PhD

29) Eye Tracking as a Potential Screening Tool for FXTAS in Fragile X Premutation Carriers

Jonathan Polussa

30) Disease Modifying Effects of STX209 in a Mouse Model of Fragile X Syndrome

Friso R. Postma, PhD

31) Dendritic Spine Phenotype in FMR1 KO Mice Reversed by Chronic Treatment with a PAK Inhibitor

Christopher S. Rex, PhD

32) Functional Skills in FXS from Childhood to Adolescence

Erin Richard, MA, MS SLP , Kristin Cooley, M.Ed

33) Novelty Detection in Infants with Fragile X Syndrome

Lena C. Rothstein, Pamela Gallego, MA

34) Language Profiles in Adolescents with Fragile X Syndrome using the Children’s Communication Checklist-2

Alex Stewart

35) Exploring Cholesterol Dysfunction in a Mouse Model of Fragile X Syndrome

Maria Victoria Tejada-Simon, PhD, MS

36) Predictors of Maternal Perceived Relationship Quality: Mothers and Adolescents with Fragile X Syndrome

Dianne Thompson, MA

37) Early Development in Carrier Infants

Anne Wheeler, PhD

38) Experiences of Adult Premutation Carriers and Full Mutation Females

Anne Wheeler, PhD, Melissa Raspa, PhD

39) A Video Social Story of the Fragile X Program at Children’s Hospital Boston

Julie Wood

40) What Do We Know About Fragile X Chromosome Fragility?

Dmitry Yudkin, PhD

Mission to Lars

Popcorn and soft drinks will be server.

Because everyone deserves an adventure in their life.

The National Fragile X Foundation is proud to present a very special screening of “Mission to Lars ^[10]“, a wonderful documentary about Tom Spicer: a man with fragile X syndrome on a mission. The movie was shown in limited release in the UK and has only been shown at special screenings here in the United States.

^[11]

Tom and Kate from Mission to Lars

For twenty years all Tom has wanted is to meet Lars Ulrich, drummer for the heavy metal band Metallica. Finally, his siblings promise to make it happen. But what starts out a dream soon becomes a nightmare as Tom’s disabilities; a dysfunctional family and heavy metal’s labyrinthine backstage thwart the mission at every turn.

We believe that it has something everyone will enjoy. Mission to Lars is a powerful movie that strives to define Tom as a person, not a disability. You will laugh and cry along with Tom and his family, whose journey includes many situations familiar to those impacted by Fragile X. It is a heart-warming intercontinental adventure that gives those unfamiliar with Fragile X a new insight into their world. The movie also features a cameo from Dr. Randi Hagerman, a rock star in her own right!

This screening is supported by Novartis.

Hope starts the engine and intervention powers the outcome:

Why evidence based intervention is essential to assure fidelity in treatment

Marcia Braden, PhD ^[12]is a licensed psychologist with a clinical practice specializing in children and adolescents. She is a former teacher with experience teaching general and special education. She has written and published numerous articles related to education and behavior management strategies, techniques, and interventions. She is a contributing author to the book Fragile X Syndrome; Diagnosis, Treatment, and Research, compiled and edited by Randi and Paul Hagerman and Children with Fragile X Syndrome: A Parent’s Guide, edited by Jayne Dixon Weber. She is the author of Fragile – Handle With Care: More About Fragile X Syndrome.

Dr. Braden is a member of the Scientific and Clinical Advisory Board to the National Fragile X Foundation and is a member of the Advisory Committee for the HillSprings Learning Center.

Dr. Braden frequently consults with parents, therapists, educators, and medical staff about effective treatments. Respected for her work internationally, she has presented at numerous conferences and workshops about fragile X syndrome, autism, and other related disorders.

9:00 AM – 9:30 AM

The 70-year Journey of Fragile X Syndrome

Stephen Warren, PhD ^[13]is the William Patterson Timmie Professor and Charles Howard Candler Chair of Human Genetics as well as Professor of Biochemistry and of Pediatrics at Emory University School of Medicine. Dr. Warren received his PhD in Human Genetics from Michigan State University and was a fellow at the University of Illinois College of Medicine. He is a Diplomat of the American Board of Medical Genetics and a founding Fellow of the American College of Medical Genetics. Dr. Warren is the past President of the American Society of Human Genetics and former Editor-in-Chief of The American Journal of Human Genetics. In 1991 he led the international team that discovered the FMR1 gene, responsible for fragile X syndrome. Since that time, his lab has consistently played an important role in deciphering the genetics, biochemistry, cell biology and neurobiology of fragile X syndrome. Dr. Warren’s work has illuminated therapeutic approaches for the treatment of fragile X syndrome, including successful chemical library screens for potential therapeutics. He is a member of the Institute of Medicine and the National Academy of Sciences.

Early Morning Break

Understanding and Treating Behavioral Issues

Marcia Braden, PhD, Karen Riley, PhD

Is your child subject to seclusion or restraint in school due to behavior? Learn about New Federal Guidelines

Jeffrey Cohen, JD

Hyperarousal in Fragile X Syndrome: Teenage and Adult Issues

Richard Belser, PhD, Vicki Sudhalter, PhD

Designing Effective Sensory Diets for Children and Adults with FXS

Jamie McGrew, MS, OTR/L, Tracy Murnan Stackhouse, MA, OTR/L, Sarah K. Scharfenaker, MA, CCC-SLP

Anxiety and Hyperarousal in Fragile X Syndrome

Lisa Cordeiro, MS

Diagnostic Alphabet Soup: Understanding How Fragile X Fits in With Educational and Behavioral Diagnoses

Brenda Finucane, MS, CGC

Evaluating Children with Fragile X Syndrome for Educational Planning and Research: How Is It Done and What Does it all Mean?

Gail A. Spiridigliozzi, PhD

Spontaneous Facial Emotion Discrimination in Individuals with Autism Spectrum Disorders and Fragile X Syndrome

Hayley Rhiannon Mace

Effect of Minocycline on Attention and Social Gaze Processing in Children with Fragile X Syndrome

Stephanie Sansone

A Comparison of Word Learning Assessed with Eye Tracking to Standardized Language Scores

David P. Benjamin

Update on Treatment for FXTAS

Deborah Hall, MD, PhD

Addressing Caregiving Needs for a Loved One with FXTAS

Louise W. Gane, MS

Formation of an RNA/DNA Hybrid R-loop at the FMR1 5′UTR: A New Piece of the FMR1 Molecular Puzzle

Erick Loomis (A Conquer Fragile X Young Investigator)

The Role of Cockayne Syndrome Group B (CSB) in Repeat Expansion in Fragile X Premutation Mice

Xiaonan Zhao, PhD, Karen Usdin, PhD

Sequencing the Unsequenceable: Expanded CGG Repeats in the Human FMR1 Gene

Paul J. Hagerman, MD, PhD

Late Morning Break

Psychopharmacology (Medication Treatment) for Behavior in Fragile X Syndrome

Elizabeth M. Berry-Kravis, MD, PhD, Ave Lachiewicz, MD

From Wonder Years to Golden Years: Making the Transition to Adult Services

Brenda Finucane, MS, CGC, Jayne Dixon Weber

A Home of One’s Own: Meeting the Challenges of Independent Living

Anita Abraham-Inz, MS

Personal & Professional Experiences: Reproductive Options for FMR1 Carriers

Amy Cronister, MS, CGC, Vanessa Chartouni, Michele Kaplan

Brain Development in Fragile X Syndrome from Infancy Through Adolescence: Relevance to Learning and Behavior

Allan L. Reiss, MD

Differences in Cortical Hyperexcitability in Fragile X Syndrome

Andrea Schneider, PhD

Cognitive and Behavioral Correlates of Caudate Subregion Shape in Fragile X Syndrome

Daniel Peng

Brain Development in Fragile X Syndrome from Infancy Through Adolescence: Relevance to Learning and Behavior

Allan L. Reiss, MD

Differences in Cortical Hyperexcitability in Fragile X Syndrome

Andrea Schneider, PhD

Repeated Assessment of Neuromotor Skills: Effect on Outcome Measures and Implications for Intervention Studies in Fragile X Syndrome

Lisa Cordeiro, MS

Neuromotor Outcome Measures for Clinical Trials in FXS:  Strategies and Supports for Success

Jamie McGrew, MS, OTR/L

Profile of Neuromotor Skills in Fragile X Syndrome

Nicole Tartaglia, MD, Tracy Murnan Stackhouse, MA, OTR/L

Neuromotor Outcome Measures For Clinical Trials in Fragile X Syndrome

Nicole Tartaglia, MD, Tracy Murnan Stackhouse, MA, OTR/L

Ovarian Abnormalities in a Fragile X Premutation Mouse Model

Karen Usdin, PhD

Longitudinal Brain Volume and Shape Changes in the CGG KI Mouse Model of the Fragile X Premutation and FXTAS

Qiang Wang, PhD

Toward the Development of a Behavioral Endophenotype of the CGG KI Mouse Model of the Fragile X Premutation

Michael Ryan Hunsaker, PhD, Robert F. Berman, PhD

Reduced Activity Dependent Increases in Fmrp and Arc Proteins in the Motor Cortex of CGG KI Mice after Training in a Skilled Forelimb Reaching Task

Ramona E. Von Leden, Lindsey C Curley, Michael Ryan Hunsaker, PhD, Robert F. Berman, PhD

TBD

Award Luncheon

Hosted by the NFXF to recognize those who have a significant impact in the Fragile X community.

Everyone Needs to Play: Promoting Play Across the Lifespan

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

Practical Ideas for Play for your Child with Fragile X Syndrome

Dawn Rohlik, OTR/L

Genetic Counseling: Not a One Time Event

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

Genetic Counseling: The Importance of Facilitating Family Communication

Allyn McConkie-Rosell, PhD

Tough Cases:  A Case for Prescriptive Intervention Using Best Practice

Marcia Braden, PhD, Anne Marie Gjestson, MS

Fragile X, Intermediate, and Premutation Alleles in the Autism Genetic Resource Exchange (AGRE)

W. Ted Brown, MD, PhD

Fragile X Syndrome in British Columbia: Past, Present, Future

Gudrun Aubertin, MD

Population Carrier Screening for Fragile X Syndrome – Attitudes and Experiences of Women Undergoing Screening

Jonathan Cohen, MD

Motor Stereotypies in Fragile X Syndrome

Victor Kaytser, Deborah Hall, MD, PhD, Elizabeth Berry-Kravis, MD, PhD

Expressive Language Sampling as an Outcome Measure for Interventions in Fragile X Syndrome

Elizabeth Berry-Kravis, MD, PhD

Feasibility, Reproducibility, and Clinical Validity of the Pediatric Anxiety Rating Scale, Revised (PARS-R) in Fragile X Syndrome

Nicole M. Russo-Ponsaran, PhD (A Conquer Fragile X Young Investigator) , Elizabeth M. Berry-Kravis, MD, PhD

Development of a Markerless Motion Analysis System to Quantify Hyperkinesis and Stereotypies in Males with Fragile X Syndrome

Joan Ann O’Keefe, PT, PhD (A Conquer Fragile X Young Investigator)

International Fragile X Clinics and Parent Support Group Meeting

Robert Miller

Bidirectional Transcription and CTCF Binding at the Human FMR1 Locus: Implications for the Fragile X-Associated Disorders

Galina N. Filippova, PhD

Targets of FMR4 – A Functional Non-coding RNA at the FMR1 Locus

Veronica Peschansky

Mechanisms of CGG-Repeat Mediated Changes in the FMR1 Expression

Daman Kumari, PhD

TBD

Afternoon Break

Hyperarousal in Fragile X Syndrome: Transitions, IEPs and Childhood Issues

Vicki Sudhalter, PhD, Richard Belser, PhD

Advances in our Understanding of Basic Disease Mechanisms, Clinical Involvement and Treatment of Premutation Carriers

Randi Hagerman, MD, Paul Hagerman, MD, PhD

Building Fragile X Awareness in Your Community

Theodore G. Coutilish, MA, Holly Usrey-Roos

How to Increase Advocacy Efforts in Your State

Tammy Selinger, Andy Selinger

Finding the Adult Services in Your State

Karen Riley, PhD, Jayne Dixon Weber

Females with FXS

Ali Cohen, Anna Cohen, Chelsea Heisel, Lara Bailey, Bethany Collins

Prevalence of Fragile X Gene Expansions in Alzheimer Disease and Memory Disorders

Deborah Hall, MD, PhD

Characterization of Balance Deficits in FMR1 Premutation Carriers With and Without FXTAS Reveals a Unique Profile of Impaired Vestibular Control and Postural Instability.

Joan Ann O’Keefe, PT, PhD (A Conquer Fragile X Young Investigator)

Dystonia in FMR1 Premutation Carriers

Deborah Hall, MD, PhD

Symposia: Visual and Early Development of Infants and Toddlers with Fragile X Syndrome

Co-chairs: Susan M. Rivera, Ph.D. and Jane E. Roberts, Ph.D.

Attention Shifting in Infants with Fragile X Syndrome; Investigating the Brain’s Orienting Network

Emily R. Owen, MA, RN

Five Years of Studying the Visual and Early Cognitive Development of Infants and Toddlers with Fragile X Syndrome: What Have We Learned?

Susan M. Rivera, PhD

Developmental Trajectories in Infants with Fragile X Syndrome: Comparing Fragile X, Autism Siblings, and Typical Controls

Lindsay McCary, PhD, Svetlana V. Shinkareva, PhD, Jane Roberts, PhD

Visual Attention in Infants at High Risk for Autism: Comparing Fragile X to Autism Siblings

Bridgette Tonnsen, MA, Jane E. Roberts, PhD

Miami Marlins vs. San Diego Padres

Transportation is included and it’s a 10 minute bus ride.

• Bus Loading begins at 5:30 p.m. Hyatt Lobby Entrance
• Bus Loading begins at 5:45 p.m. Intercontinental Lobby Entrance

Join us in our own section just off the 3rd base line for the Marlins game. With our own section this will allow everyone to talk, move around and socialize. Included is a voucher for the concession stands for use on souvenirs or food.

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

Kimberly M. Huber, PhD ^[14]earned 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 Guidotti ^[15]completed 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.

Reality & Hope: Three Couples on the Fragile X Journey

• Arlene & Jeffrey Cohen
• Lisa & Michael Kelley
• Sherri & Brad Whitus

Mix & Match: Combining Medicine and Consensus-Based Therapy

• Elizabeth Berry-Kravis, MD, PhD
• Randi Hagerman, MD
• Sarah “Mouse” Scharfenaker, MA, CCC-SLP
• Tracy Stackhouse, MA, OTR
• Marcia Braden, PhD
• Karen Riley, PhD