Conference Agenda

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

Elizabeth Berry-Kravis, MD, PhDis 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 Weberis 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“, 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.

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.