Professional Program

Combined Family and Professional Program

“Detection, Care, Cure”

(Updated 06/23/2012)

Accreditation Information for this program

Friday, July 6th

8:00 AM           Registration Opens, Disney’s Yacht and Beach Club Resorts, Asbury Rotunda and Lobby

4:00 PM           Welcome Reception – Light Refreshments, Disney’s Yacht and Beach Club Resorts, Asbury Rotunda and Lobby

Disney’s Yacht and Beach Club Resorts   Grand Harbor Ballroom – 5:00 to 7:50 PM – Session I to II

5:00 PM           Opening Remarks – Disney’s Yacht and Beach Club Resorts, Grand Harbor Ballroom South, Anne Bassett, Carol Cavana, Donna McDonald-McGinn, Wendy Rose

          • Welcome and Opening Remarks  - Program Chair and Organizing Committee
          •  Parade of Nations
          • Setting the Programmatic Stage

5:15 PM                                   Angelo DiGeorge Memorial Award Presentation – Peter Scambler and Anne Bassett                                           

Session 1: Pulling Together for the Long Haul 

Disney’s Yacht and Beach Club Resorts, Grand Harbor Ballroom South

Moderators: Carol Cavana and Wendy Rose – 5:30 to 6:30 PM

5:30 PM           Carol Cavana

          • Making Newborn Screening a Reality – Why Families Care

5:35 PM           Wendy Rose

          • Detection – Care – Cure: A Common Goal

5:40 PM           Jill Stein

          • Supporting Regional Clinical Centers of Excellence – Why and How

5:45 PM           Michelle Breedlove-Sells

          • Benefits of Summer Camp – Priceless!

5:50 PM           Maria Kamper

          • It’s a Small World – International Collaborations

5:55 PM           Sheila Kambin

          • The Miracle of Social Media – “22q at the Zoo” Worldwide Awareness Day

6:00 PM           Brenda Finucane

          • The Same Name Campaign – Practice Makes Perfect

6:05 PM           Karen Ruckman-Lindsay

          • Living with 22q – One Journey
          • Instrumental Performance

6:20 PM           Discussion

Session 2: Newborn Screening, Prevalence and Why It Matters

Disney’s Yacht and Beach Club Resorts, Grand Harbor Ballroom South

Moderators: Anne Bassett and Peter Scambler – 6:30 to 8:00 PM

6:30 PM           Donna McDonald-McGinn

          • Where Have We Been?  Where Are We Going?  How Can Newborn Screening Help Us Along This Journey?

6:40 PM           Anne Bassett

          • Where Have We Been? Practical Guidelines for Managing Patients – A Document for Change

6:45 PM           Michael E. Mitchell

          • Impact of Early Detection of 22q11.2DS Related Congenital Heart Disease: Implications for Newborn Screening

6:50 PM           Julie Wootton

          • Remembering Max: In Hopes of Making a Difference Beyond the United Kingdom

6:55 PM           Sheila Kambin

          • The Odd Man Out!  When the Patient Does Not Fit the Profile – One Family’s Diagnostic Odyssey

7:00 PM           Aoy Mitchell

          • Newborn Screening – How, Why and When?

7:10 PM           Laird Jackson

          • 22q11.2DS Array Results in Consecutive Prenatal Diagnostic Screenings – A Window Into Prevalence

7:20 PM           Melissa K. Maisenbacher

          • Prevalence of 22q11.2DS in Products of Conception Lend Insight Into Non-Invasive Prenatal Diagnostic Testing

7:30 PM           Thomas Werge

          • Estimating Incidence Rates and Clinical Profiles Using Danish Health Registers and Biobanks

7:40 PM           Peter Scambler

          • Summing It Up

7:45 PM           Discussion

8:00 PM           Adjourn – Dinner on Your Own

Saturday, July 7th 

7:00 AM           Registration Open, Disney’s Yacht and Beach Club Resorts, Asbury Rotunda and Lobby

Session III – Of Mice and Men

Grand Harbor Ballroom South

Moderators: Bernice Morrow and Peter Scambler

8:00 AM           Peter Scambler

          • Craniofacial Development

8:20 AM           Silvia E. Racedo*

          • Mouse Model Approach for Studying Human Congenital Heart Disease (CHD)

8:30 AM           Anthony LaMantia

          • Brain and Behavior

8:50 AM           Noboru Hiroi

          • Alterations of Social Behavior Through Genetic and Environmental Manipulation of the 22q11.2 Gene SEPT5 in the Mouse Brain

9:00 AM           Laurie R. Earls*

          • Age-Dependent MicroRNA Modulation of Ca2+ Dynamics and Synaptic Plasticity in Mouse Models of 22q11.2DS

9:10 AM           Christian Marshall

          • CNV’s in Autism, Intellectual Disability, and Neuro-Psychiatric Disease – Lessons for 22q11.2DS

9:30 AM           Discussion

9:45 AM           Coffee Break, Salons 5-8

Session IV – Advances in Molecular Genetics

Grand Harbor Ballroom South

Moderators: Anthony LaMantia and Christian Marshall

10:00 AM         Bernice Morrow

          • Human and Model Organism Approaches to Find Genetic Modifiers for 22q11.2DS

10:10 AM         Anne Chun-Hui Tsai

          • Chromosomal Microarray Analysis (CMA) in Patients with 22q11.2DS

10:20 AM         Beata A. Nowakowska*

          • Targeted Re-sequencing of the Remaining 22q11.2 Region in Atypical Patients with 22q11.2DS

10:30 AM         Beverly S. Emanuel

          • 22q11.2DS: Second Hit CNVs and Conotruncal Heart Defects

10:40 AM         Estefania Pinero Martos*

          • Additional CNVs in 22q11.2: Meiotic Instability in the Parent of Origin?

10:50 AM         Flora Tassone

          • Decreased DGCR8 Levels Lead to Altered MicroRNA Processing in Children with 22q11DS

11:00 AM        Discussion

Session V – Two Sides of the Same Coin? Dups and Atypicals

Grand Harbor Ballroom South

Moderators: Damien Heine Suner and Hiroshi Kawame

11:15 AM         Damien Heine Suner  

          • Mutations in TBX1 & Clinical Characterization of Two Patients with Mental Retardation and a Rare Variant in the 5’UTR of the TBX1 Gene

11:25 AM         Donna McDonald-McGinn

          • Phenotypic Findings in the Atypical Nested 22q11.2 “B-D” Deletion
          • A Report on 50 Individuals with 22q11.2 Duplication – A Genetic Counseling Conundrum

11:35 AM         Sulagna Saitta

          • Molecular Analysis of Patients whose Clinical Features Overlap 22q11.2DS

11:45 AM         Ann Swillen

          • Neuro-Behavioural Deficits in Children (2-12 years) with 22q11.2 Duplication

11:55 AM         Cynthia Solot

          • Description of Speech and Language in Eight Children with 22q11.2 Duplication Syndrome

12:00 PM         Discussion

12:15 PM         Lunch – Salons 5-6

Session VI – Healthcare Guidelines: There’s an App for That!

Grand Harbor Ballroom South

Moderators: Elizabeth Goldmuntz and Kathleen Sullivan

1:00 PM           Elizabeth Goldmuntz

          • Current Trends in Cardiology

1:10 PM           Julia Kozlova*

          • 22q11.2DS Study on the Group of Patients of the First Year of Life within the Perinatal Cardiological Centre at MCH No67, Moscow, Russian Federation

1:15 PM           Kathleen Sullivan

          • Immunologic Update and Related Issues

1:30 PM           NancyUnanue

          • Thyroid Disease and Growth Hormone Deficiency

1:40 PM           Lorraine Katz

          • Calcium and Parathyroid Hormone Levels in Youth

1:50 PM           Anne Bassett

          • Potential Effects on Cognitive Development of Neonatal Hypocalcemia

1:55 PM           Discussion

2:10 PM           Michele Lambert

          • Hematologic Manifestations

2:20 PM           Peggy Eicher

          • Feeding and Swallowing Issues

2:30 PM           James Kelly*

          • Gut Inflammation

2:40 PM           Dino Colo*

          • Scoliosis in 22q11.2DS
          • Orthopaedic Manifestations in 22q11.2DS

2:50 PM           Discussion

3:05 PM           Afternoon Tea – Salons 5-6

Session VII – Structural and Functional Brain Anomalies

Grand Harbor Ballroom South

Moderators: Solveig Oskarsdottir and Peggy Eicher 

3:25 PM           David Lynch

          • Structural Brain Findings in 129 Individuals with 22q11.2DS

3:35 PM           Stephan Eliez

          • Abnormal Course of Cortical Maturation

3:45 PM           Elliott Beaton

          • Reduced Amygdala Volume and Elevated Anxiety in Children

3:55 PM           Carrie Bearden

          • MRI Resting State Functional Connectivity

4:05 PM           Yi Deng*

          • Altered Hippocampal Connectivity and Midline Brain Anomalies in Children with 22q11.2DS

4:15 PM           Discussion 

Session VIII – The Topic of Reproduction

Moderators: Natalie Blagowidow and Sheila Kambin –  4:30 to 5:30 PM

Grand Harbor Ballroom South

Moderators: Natalie Blagowidow and Sheila Kambin

4:30 PM           Natalie Blagowidow

          • Prenatal Clues to the Diagnosis, Testing, Preimplantation Genetic Diagnosis, and Reproductive Issues in 22q11.2DS

4:50 PM           Gregory Costain*

          • Reproductive Issues in Adults with 22q11.2 Deletion Syndrome

5:00 AM          Louise Amlie – Wolf*

          • Renal Anomalies, Polyhydramnios and Single Umbilical Artery as Prenatal Clues to the Diagnosis of 22q11.2DS

5:10 PM           Dana Faux*

          • Assessment of Parental Disclosure of a 22q11.2DS Diagnosis and Implications for Clinicians

5:15 PM           Discussion

5:30 PM           Adjourn

6:30 PM       “22Q Hullabaloo” Speaker Reception – Atlantic Dance Hall at Disney’s Boardwalk

7:00 PM        2012 Professional Group Photo – Atlantic Dance Hall at Disney’s Boardwalk

Sunday, July 8th 

7:00 AM          Registration Open, Disney’s Yacht and Beach Club Resorts, Asbury Rotunda and Lobby

Session IX – The Significance of Case Reports

Grand Harbor Ballroom South

Moderators: Karlene Coleman and Elaine Zackai

8:00 AM          Elaine Zackai

          • The Unique Challenge of Dual Diagnoses in 22q11.2DS

8:05 AM           Karlene Coleman

          • 22q11.2DS with Concomitant Diagnoses of Neurofibromatosis and Waardenburg Syndrome in Two Families

8:10 AM           Paula Goldenberg

          • Left Ventricular Non-Compaction Cardiomyopathy (LVNC) and 22q11.2DS:  Two Rare Diseases in One Individual or Syndromic Association?

8:15 AM           Helena Ly*

          • Evaluation of Possible Association Between Leg Pain, Hypocalcemia and Muscle Weakness in Children with 22q11DS

8:20 AM           Meredith Workman*

          • Cryptotia in 22q11.2DS:  Case Report and Review of Common External Ear Anomalies

8:25 AM           Ariela Nachmany

          • Platybasia in 22q11.2DS

8:30 AM           Adriane Baylis

          • Hypernasal Speech in the Presence of “Adequate” VP Closure in 22q11.2DS:  A Case Report

8:35 AM           Eva Chow

          • Familial 22q11.2 Duplications in a Father and Son Pair with Variable Phenotype but with Features Commonly Associated with 22q11.2DS

8:40 AM           Hiroshi Kawame

          • Differential Diagnosis of 22q11.2DS: 2q33.1 Microdeletion Syndrome

8:45 AM          Discussion

Session X – ENT, Speech and Language

Grand Harbor Ballroom South

Moderators: Brian Sommerlad and Christina Persson

9:00 AM           Brian Sommerlad

          • What a  Difference a Palate Makes – Evaluation, Surgery, Timing and Recovery

9:15 AM           Nicole Spruijt*

          • In Search for the Optimal Surgical Treatment for Velopharyngeal Dysfunction in 22q11.2DS:  A Systematic Review

9:25 AM           Cynthia Solot

          • Timing for Pharyngoplasty in Children with 22q11.2DS and Velopharyngeal Dysfunction – Why Should we Wait

9:35 AM           Christina Persson

          • Acoustic and Perceptual Characteristics of Speech in 22q11.2DS:  Measures of Voice Onset Time and Syllable Durations Related to Articulation and Prosody

9:45 AM           Carrie Stransky*

          • Critical Phenotypic Manifestations of 22q11.2 DS in Patients Requiring Surgery for Velopharyngeal Insufficiency

9:55 AM           Adriane Baylis

          • Motor speech Deficits in the 22q11.2DS

10:00 AM         Meredith Workman*

          • Quantitative Nasopharyngoscopic Assessment of Velopharyngeal Closure in 22q11.2DS

10:05 AM         Solveig Oskarsdottir

          • Important ENT considerations

10:15 AM         Discussion

10:30 AM         Coffee Break – Salons 5-6

Session XI – Cognition, Behavior, Development and Functioning

Grand Harbor Ballroom South

Moderators: Ann Swillen and Paul Wang  –  10:45 to 12:30 PM

Grand Harbor Ballroom South

Moderators: Ann Swillen and Paul Wang 

10:45 AM        Ann Swillen

          • Cognitive Profile Associated with the 22q11.2DS

10:55 AM        Sasja Duijff*

          • Cognitive and Behavioural Trajectories in 22q11.2DS from Childhood into Adolescence: Preliminary Results of a Prospective 6-year Follow-up Study

11:05 AM        Maria Niarchou*

          • Cognitive Function and Psychopathology in Children with 22q11.2DS

11:15 AM       Stephen Hooper

          • Longitudinal Neuropsychological Outcomes in Preadolescent Children with 22q11.2DS

11:25 AM        Kathleen Angkustsiri*

          • Autism in 22q11.2DS:  Diagnostic Dilemmas of Dual Diagnoses

11:30 AM           Sasja Duijff*

          • Developmental Aspects of Psychiatric Symptoms in Youngsters with 22q11.2DS; A Focus on Psychosis

11:40 AM        Nancy Butcher

          • Adult Functioning in 22q11.2DS: Characterization and Predictors of Adaptive Functioning in 100 Adults

11:50 AM          Therese Van Amelsvoort

          • 22q11.2DS in Moderate and Severe Learning Disabled Adults – Relation between Psychosis and Cognitive Deterioration

11:55AM          Ren Evers

          • COMT val/met Polymorphism and Startle Reactivity in Adults with 22q11.2DS

12:00 PM         Linda Campbell

          • The Relationship Between Antisaccade, Prepulse Inhibition, and Executive Dysfunction in 22q11.2DS

12:05 PM         Heather Shapiro

          • Impaired Cognitive Control and its Relationship to Anxiety, Adaptive Functioning, and Risk for Psychopathology

12:10 PM         Doron Gothelf

          • S-Adenosyl-L-Methionine (SAMe) for the Treatment of Neuropsychiatric Symptoms in 22q11.2DS:  A Double-Blind Placebo Controlled Trial

12:15 PM         Discussion

12:30 PM         Lunch – Salons 5-6

Session XII – Psychiatric Illness, Possible Predictors and Amelioration

Grand Harbor Ballroom South

Moderators: Anne Bassett and Therese Van Amelsvoort

1:15 PM           Paul Wang

          • Drug Discovery: Genes to Pathways to Therapeutics – Translational Research Lessons from Fragile X

1:35 PM           Anne Bassett

          • Psychosis and Related Neuropsychiatric Expression Across the Lifespan

1:45 PM           Joseph Cubells

          • Simultaneous Assessment of Schizophrenia-Spectrum, Autism-Spectrum and Other Axis I Diagnoses in Adolescents and Young Adults with 22q11.2DS

1:55 PM           Maude Schneider*

          • Patterns of Psychotic Symptoms in 22q11.2DS and Their Association with Cognitive Functioning -  A Cluster Analysis

2:05 PM           Raquel Gur

          • Brain and Behavior in 22q11.2DS

2:15 PM           Vandana Shashi

          • Predictors of Anxiety Symptoms and Disorders in Children with 22q11.2 Deletion Syndrome: Further Understanding of the Underlying Pathophysiology

2:20 PM           Tony Simon

          • Reduced Resolution of Spatial and Temporal Processing in Children with Chromosome 22q11.2DS and Implications for Functioning

2:30 PM           Petra Klaassen*

          • Behavioral Problems in Children with 22q11DS – Comparing the Teachers’ and Parents’ Perspectives

2:40 PM           Discussion

Session XIII – Remediation

Grand Harbor Ballroom South

Moderators: Eva Chow and Tony Simon 

2:55 PM           Wendy Kates

          • Computerized Cognitive Remediation in Adolescents:  A Preliminary Report

3:05 PM           Stephan Eliez

          • Vis-à-vis: Socio-Emotional Remediation

3:15 PM           Eva Chow

          • Transition to Psychosis in a Clinical Sample of Adolescents with 22q11.2DS
          • Aripiprazole in Patients with 22q11.2DS and Schizophrenia

3:25 PM           Margaret Souders

          • Sleep Behaviors and Solutions

3:30 PM           Betsy Leech

          • Fostering Resilience in Families

3:35 PM           Eileen Marrinam

          • Social Communication Correlates of Psychiatric Disorders in 22q11.2DS

3:40 PM           Donna Cutler-Landsman

          • Changes Over Time – Educational Implications

3:45 PM           Discussion

4:00 PM           Afternoon Tea – Salons 5-6

Session XIV – Multidisciplinary Matters

Grand Harbor Ballroom South

Moderators: Sixto Garcia-Minaur and Alex Habel 

4:15 PM           Alice Bailey*

          • 22q11.2DS Centers of Excellence – How and Why

4:20 PM           Joan Atkin

          • An Interdisciplinary Team Approach for a 22q11.2DS Center

4:25 PM           Alan Fung

          • Strategic Planning for a Multidisciplinary Adult 22q11.2 Deletion Syndrome Clinic in a Canadian General Hospital Setting
          • Coordinating and Managing a Clinic for Adults with 22q11.2 Deletion Syndrome

4:30 PM           Clodagh Murphy

          • Transition of Care from Child to Adult Mental Health Services

4:35 PM           Annique Hogan

          • Caring for the Pediatric Patient with 22q11.2DS: The Role of the Primary Care Physician and the Medical Home

4:40 PM           Meg Maguire

          • Navigating the Electronic Record and Developing Perioperative Order Sets

4:45 PM           Robert Hopkin

          • Need for Hospitalization Analysis from Birth to Age 10

4:50 PM           Maria Mascarenhas

          •  Feeding and Gastrointestinal Manifestations are the Most Difficult Issues for Families to Navigate

4:55 PM           Brian Forbes

          • Why an Eye Exam is Included in the Guidelines – Ophthalmologic Findings in Children

5:00 PM           Rosario Mayro

          • Demystifying Dental Issues

5:05 PM           Alex Habel

          • Specific Growth Curves for 22q11.2DS

5:15 PM           Discussion

Session XV – Moving Ahead

Moderators: Anne Bassett and Donna McDonald-McGinn 

5:30 PM           Bernice Morrow

          • International Phenotypic Modifier Consortium Outcomes Update

5:35 PM           Ann Swillen

          • International Brain-Behavior Consortium Update

5:40 PM           Sixto Garcia-Minaur

          • Developing Registries

5:45 PM           Anne Bassett and Donna McDonald-McGinn

          • Challenges for the Future
          • Clinical Guidelines – Keeping Them Current and Available for All!
          • Opportunities for Cross-Fertilization
          • Developing a Professional Society
          • Establishing Criteria for Clinical Centers of Excellence

6:00 PM           Discussion

6:15 PM           Anne Bassett, Damien Heine Suner, and Sixto Garcia-Minaur

          • Junior Investigator Award
          • Closing Remarks

6:30 PM           Professional Program Concludes – See you In Mallorca, Spain in 2014!

7:30 PM          “22q Barbeque” Character Dinner for All – Disney’s Yacht and Beach Club Resorts Marina/Boardwalk