First Annual Symposium on Pediatric Neurotransmitter
Diseases May 18 to 19, 2002 Annals of Neurology Vol 54 Supplement 6 2003 For a free copy of the Journal
[email protected]


The National Institute of Neurological Disease and Stroke,
The Office of Rare Diseases,*
The Johns Hopkins School of Medicine
 The PND Association Present

   Medical Management of Pediatric Neurotransmitter Disease:
A Multidisciplinary Approach

Hyatt Dulles at Washington Dulles International Airport
Herndon, VA
Friday, July 18th - Saturday, July 19th 2008

Please click here for registration information.

Program Description & Objectives:
Although much progress has been made in the field of Pediatric Neurotransmitter Diseases (PND’s) much remains to be achieved in terms of diagnosis, understanding and treatment of these disorders. The conference will bring together scientists and clinicians to discuss current and potential treatments for PND’s and to arrive at practical guidelines for multidisciplinary treatment of the various PND’s.

The conference format features formal presentations by outstanding clinicians and researchers in the field, question and answer sessions, panel discussions and open dialogue. The conference format is designed to encourage interaction and collaboration between speakers and attendees concerning the best directions for clinical practice and research of PND’s. Families will have an opportunity to meet "face to face" with others dealing with the same disorders and the associated challenges.

After attending this conference participants will be able to:

  • Apply the latest scientific information toward the diagnosis and clinical management of PND’s as measured by earlier diagnosis, increased incidence and improved patient outcomes.
  • Recognize the rationale to consider and adopt a multidisciplinary treatment approach to PND’s as measured by enhanced patient outcomes after diagnosis.
  • Relate information gained to generate new research, new approaches and/or new collaborations on behalf of PND’s, as measured by increased research, new treatments and increased awareness.

Credit Designation Statement:
The Johns Hopkins University School of Medicine designates this educational activity for a maximum of 10.75 AMA PRA Category 1 Credit(s)™. Physicians should only claim credit commensurate with the extent of their participation in the activity.

Accreditation Statement:
This activity has been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education through the joint sponsorship of The Johns Hopkins University School of Medicine and The National Institutes of Health. The Johns Hopkins University School of Medicine is accredited by the ACCME to provide continuing medical education for physicians.

Who Should Attend:
This activity is intended for :

  • Child Neurologists
  • Metabolic Specialists
  • Geneticists
  • Health Care Professionals involved with neurological diseases
  • Scientists
  • Families and Caregivers

Event Sponsors:


 Program Schedule

Thursday July 17, 2008

7:00-8:30PM      Welcome Reception

8:30-10:00PM    PND Board of Direct and Medical & Scientific Advisory
                       Board Meeting 

Friday July 18, 2008: Day 1

7:00-8:00AM      Continental Breakfast/Registration

Morning Theme:  Phenotypes and Therapy
                               Chair: Darryl De Vivo MD, Columbia, NY

8:00-8:15AM      Welcome and Opening Remarks
                        Dan Tagle PhD, Program Director NIH/Neuroscience Center, Bethesda MD
                        Darryl DeVivo MD, Columbia, NY

8:15-9:00AM      The Phenotypic Spectrum of Pediatric Neurotransmitter
                        Diseases and Infantile Parkinsomism
                        Roser Pons MD, Mitera, Greece

9:00-9:45PM      Tetrahydrobiopterin dificiency in Pedatric 
                       Neurotransmitter Disorders/Sepiaperin Reductase Deficiency
                       Nicola Longo MD, Primary Childrens Medical Center, UT 

9:45-10:00AM    Questions and Discussion

10:00-10:30AM  Coffee/Break

10:30-11:15AM  Treatment Approaches in - Hydroxybutyric Acidura: 
                       Lessons from Mice and Men and the NIH protocols
                       Phillip Pearl MD, Children's National Wahsington, DC

11:15-12:00 AM Treatment Modalities for L-Aromatic Amino Acid
                       Decarboxylase Deficiency-The German Experience
Friederike Hoerster MD, University of Heidelberg, Germany 

12:00-12:15PM  Questions and Discussion

12:15-1:00PM   Box Lunch

Afternoon Theme: Non-Pharmacological Intervention and Alternatives 
                         Chair: K. Michael Gibson PhD FACMG, 
                         Children's Hospital of Pittsburgh, PA

1:00-1:45PM     Novel Treatment Approaches for Disorders of 
                      Neurotransmission - Umbilical Stem Cells, Gene Therapy Update
                      Joanne Kurtzberg MD, Duke University, NC 
                      Un Jung Kang MD, University of Chicago, IL

1:45-2:30PM     Sensory Integration Intervention in PNDs
Sue Kratz OTR, CST, Special Therapies, WI

2:30-3:00PM    Coffee/Break

3:00-3:45PM   Physical and Occupational Intervention for Pediatric 
                    Neurotransmitter Disorders-Goals and Objectives
                    Sally Evans MD, Children's National Washington, DC

3:45-4:30PM   Deep Brain Stimulation as Adjuvant Therapy in 
                    Neurotransmitter Disorders
                    Jerrold Vitek, MD PhD, Cleveland Clinic, OH

4:30-5:00PM   Roundtable Discussion-Summary of Day
                    Darryl De Vivo MD, Columbia NY

5:00PM          Adjourn

6:30PM          Dinner 

Saturday, July 19, 2008: Day 2

7:00-8:00AM      Continental Breakfast

Morning Theme: Treatment Updates and Future Directions -
                       Short Presentations          
                       Chair: Kathryn Swoboda MD FACMG, University of Utah

8:00-10:10AM  Short presentations (20 min)
                     Topic Updates on Disorders of Neurotransmitter

8:00-8:20AM   Sepiapterin Reductase Deficiency and the PND Database
                     Nicola Longo MD Salt Lake City, UT

8:20-8:40 AM Mouse Model Tyrosine Hydroxylase: 
                   Clinical Variability in TH Deficiency as a Direct Consequence
                   of the Influence of the Genetic Mutation on the 
                   Functions of the TH Enzyme
                   Ellen J. Hess PhD, Johns Hopkins Medicine, MD 

8:40-9:00AM  Questions and Discussion

9:00-9:30 AM  Coffee/Break

9:30-9:50 AM Comprehensive Metabolite, 
                    Enzyme and Molecular Diagnostics for PND’s
                    Keith Hyland PhD, Medical Neurogenetics LLC, GA

9:50-10:10AM  Hepatocyte Repopulation in Gamma-Hydroxybutyric Aciduria 
                     K. Michael Gibson PhD FACMG, 
                     Children’s Hosptial of Pittsburgh, PA

10:10-10:30AM  Combined Research/Clinical Fellowship for PND's
                       Michael Rotstein MD, Columbia, NY

10:30-10:45 AM  Break

10:45-11:15 PM   The Five Year Roadmap for the PND Association
                         PND Board of Directors

11:15AM-12:15PM   Roundtable-questions and answers with all speakers
                           from both days.
12:15-12:30PM       Closing Remarks
                            Darryl DeVivo MD/Dan Tagle PhD

Family Program Schedule

12:30 - 1:15PM     Bag Lunch for families sponsored by PND Association

1:15-1:30PM        Welcome/ Board Introductions, Nancy Speller President
                          Brad Hoffman Vice President/Treasurer

1:30-1:45PM        Hope for Tomorrow Begins Today
                         PND Fundraising Committee

1:45-3:00PM        Round Table Discussions Dopamine Related Diseases
                         and GABA Related Diseases 

3:00-3:15PM        Break

3:15-4:30PM        Continued Round Table Discussions Dopamine 
                         Related Diseases and GABA Related  Diseases

4:30-4:45PM        Closing Remarks/ Adjourn

*Funding for this conference was made possible (in part) by NS60363 from the National Institute of Neurological Disorders and Stroke (NINDS) and the Office of Rare Disorders (ORD). The views expressed in written conference materials or publications and by the speakers and moderators do not necessarily reflect the official policies of the Department of Health and Human Services: nor does mention ofrade names, commercial practices or organizations imply endorsement bythe U.S. Government.   

The Johns Hopkins University School of Medicine takes responsibility for the content, quality and scientific integrity of the CME activity.

**This agenda was prepared in October 2007 and is subject to change.

Session Chairs
Darryl C. De Vivo MD, Sidney Carter Professor of Neurology, Professor of Pediatrics, Director Pediatric Neurology Emeritus Columbia University Medical Center, New York NY
K. Michael Gibson PhD FACMG, Professor Pediatrics, Pathology & Human Genetics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine PA
Katherine Swoboda MD, FACMG, Associate Professor Neurology University of Utah School of Medicine, Salt Lake City UT
Dan Tagle PhD, Program Director NIH/Neuroscience Center, Bethesda MD

Sally Evans MD, Division Chief Physical Medicine and Rehabilitation, Medical Director Rehabilitation, Children's National Medical Center
K. Michael Gibson PhD FACMG, Professor Pediatrics, Pathology & Human Genetics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, PA
Ellen J. Hess PhD, Associate Professor Neurology and Neuroscience, Johns Hopkins Medicine, MD
Friederike Hoerster MD, Department Child & Youth Medicine, University of Heidelberg, Germany
Keith Hyland PhD, Director, Department of Neurochemistry, Medical Neurogenetics LLC, GA 
Un Jung Kang MD, Associate Professor of Neurology and Pharmacological and Physiological Sciences, Co Director Parkinson's Disease and Movement Disorders Center  University of Chicago IL
Sue Kratz, OTR
, CST, Director, Special Therapies, Milwaukee  WI
Nicola Longo MD, PhD, Medical Genetics/Pediatric, Primary Childrens Medical Center, Salt Lake City UT
Joanne Kurtzburg MD, Chief Department Pediatrics Division of Blood and Marrow Transplantation, Duke University, Durham NC
Phillip Pearl MD, Associate Professor of Pediatrics and Neurology, Children's National Medical Center, Washington DC
Roser Pons MD, Pediatric Neurologist/Subspecialty in Movement Disorder, Hospital Agia Sofia, First Department of Pediatrics, University of Athens, Greece
Michael Rotstein MD, Clinical Fellowship, Columbia Presbyterian, NY
Jerrold Vitek, MD, PhD, Director Neuromodulation Research Center, Cleveland Clinic, OH

For further conference information please email
PND Operations Assistant, Stephanie Martin at [email protected]
Or call the PND Association at (516) 249-4948.