PCPID Quarterly Meeting: April 24–25, 2008

Minutes: Summary of Proceedings

Proceedings of April 24, 2008

The April 24–25, 2008 meeting of the President’s Committee for People with Intellectual Disabilities (PCPID) was called to order by Designated Federal Official Representative and PCPID Executive Director, Sally Atwater, who welcomed meeting participants and asked Committee members and guests to identify themselves. Ms. Atwater stated that she would turn the agenda over to PCPID Chairman, Dallas (Rob) Sweezy, who would provide an update regarding activities since the last quarterly Committee meeting (February 15, 2008); and that the film, Life in the Shadows,would be viewed following Mr. Sweezy’s brief update.

Mr. Sweezy reviewed the evolution of plans for preparing the 2008 PCPID Report to the President, starting with the original plan to organize into three work groups, each tasked to address one of three topics (Investing in People, Removing Barriers to Employment, and Promoting Employment of People with Intellectual Disabilities). He noted his receipt of information from two group leaders that there would not be enough time to do justice to the issues by the May 11th, 2008 deadline and the Committee’s decision to move forward with the single issue of research as it relates to the topic, “Investing in People” with intellectual disabilities.

The Chair noted that a series of work group meetings had been convened, via conference call, since the last Committee meeting, and restated his commitment to group leaders that the Committee would continue to move on any work that had been done on the other two issues (removing barriers to employment and promoting employment) and that they would be a foundation for the 2009 Report. He expressed desire to have language toward the end of the 2008 Report that points to the 2009 Report, stressing that these issues have been identified by the current Committee as important, and expressing hope that the next Committee will continue work on these issues. He also speculated that although there will be some new members, the preponderance of the Committee will be the same, and that the employment issues being addressed by current groups are significant, and “a good road bed to set” for the 2009 Report to the President.

Mr. Sweezy presented a brief overview of the Committee’s charge for the two day meeting, noting a couple of minor rearrangements of agenda items. He asked if there were questions. Hearing none, he invited staff to proceed with showing Life in the Shadows, a film that documents the history of the establishment and evolution of the National Institute of Child Health and Human Development (NICHD). Sally Atwater informed members that the film was shown at the ceremony renaming the NICHD, the Eunice Kennedy Shriver National Institute of Child Health and Human Development.

Immediately following the film viewing, Stephen Hollingshead introduced panelists for the Panel Discussion on Research Translation Through the Continuum Model: Nicole Tartaglia, M.D., Assistant Professor of Pediatrics, Children’s Hospital—Denver, Fragile X Treatment and Research Center, University of Colorado and Ahmed Calvo, M.D., M.P.H., Acting Deputy Director, U.S. Department of Health and Human Services, Health Resources and Services Administration, Center for Quality, Office of the Administrator. 

Distinguishing between the topics that would be discussed by the speakers, Mr. Hollingshead pointed out that there are two kinds of translational research: T1 and T2. T1, Dr. Tartaglia’s topic, is essentially from the research bench to the bedside. T2, Dr. Calvo’s topic, is related to the dissemination of research.

Dr. Tartaglia stated that she was invited to the meeting by Harris Hollin to speak as a representative of the Fragile X Clinic and Research Consortium to talk about the consortium and how it is a model for clinical care and translational research for individuals with intellectual disabilities. She started with a slide presentation showing pictures of children and families served by the consortium in terms of doing translational research and treatments for individuals with Fragile X. Regarding Fragile X, Dr. Tartaglia presented much data including, but not limited to, the following:

• Fragile X Syndrome is the most common genetic disorder that is known to be associated with autism; 30 percent of individuals who have Fragile X syndrome have autism, and up to 60 percent actually can fall on the autism spectrum. Three to six percent of all individuals with autism have Fragile X syndrome.
• Fragile X is caused by a mutation on the X chromosome in the FMR1 gene responsible for producing a protein that’s important in neurodevelopment and in synaptic formation and connection. So in Fragile X that gene is turned off, that protein is not there, neurodevelopment occurs in an incorrect way, and synaptic development does not occur properly. When that gene expands, when you observe it under a microscope, the end of the chromosome actually breaks off, and that’s how it was named Fragile X syndrome. This leads to intellectual disability of varying degrees in almost 100 percent of patients. The average age of diagnosis of Fragile X is two and a half to three years old. Interventions are usually begun at that time. Physical features include a long face, prominent ears, and some cupping of the ears. You also see hyper-extensibility of the joints and behavioral features that may include many autistic behaviors such as hand flapping, eye avoidance and social anxiety. Seizures are experienced by about 25 percent of the population.
• Mild Fragile X can be learning disabilities. Cognitive scores that are not in the intellectual disabilities range, but more in the borderline range, are affected with neurodevelopmental disorders like attention deficit hyperactivity disorder (ADHD) or social anxiety types of problems.
• The Fragile X gene is something that impacts generations of a single family (a son or daughter, one of the parents and one of the grandparents, evidenced by: learning disabilities, speech delays, motor delays, premature ovarian failure, neuropathy and muscle pain, tremor of the hands, and/or Fragile X Tremor Ataxia Syndrome (FXTAS).
• One in 129 females and one in 800 males in the general population is a carrier of the Fragile X gene or has the permutation. Of the one in 800 about 30 to 60 percent go on to develop FXTAS. Current research is basically on those people who are carriers; what predicts whether they’re going to develop FXTAS.

The “model” described by Dr. Tartaglia is for the Fragile X Treatment and Research Center at the University of Colorado and the other 18 clinics that are part of the consortium, although they’re all a bit different. Regarding the Fragile X Clinic and Research Consortium as a model for advancing translational research to the benefit of people with intellectual disabilities, Dr. Tartaglia noted the following:

• In a Fragile X clinic, there is the Director (usually a physician, but may be a developmental pediatrician, child neurologist, geneticist, or child psychiatrist) and a multidisciplinary team of individuals (psychologist, speech and occupational therapist, genetic counselor, neurologist) trained and experienced in assessing, evaluating, and treating individuals with Fragile X syndrome. In most clinics, a big part of the clinic activity is research in terms of clinical trials of treatments and basic research, collecting blood samples and conducting basic science research.
• The clinic provides: treatment recommendations (including psychopharmacological treatments in terms of treating a lot of anxiety or mood instability); behavioral strategies; intervention therapy; speech, occupational, and physical therapy; psychological treatments; medical evaluations for seizures, sleep disorders, or other problems that are associated; medical treatment and referrals for the permutation associated conditions; follow-up for some medications; teaching and coordinating care with primary care providers. Clinic representatives also participate in IP meetings, go to staffings, and help facilitate problem solving behaviors in the schools.
• The consortium was established in 2006 by the National Fragile X Foundation in response to parents expressing need for clinical services. The Foundation raises the money to fund the clinics. The consortium became a forum for professional collaborations and research collaborations, as well. In 2008, the Foundation developed the Clinics and Research Consortium. All of the clinics are tied to big university medical centers and hospitals. Dr. Tartaglia will provide a list of the centers.
• There are similar consortium models in terms of autism, but there are no similar models that are driven by the national foundations and are true collaborative efforts of all the clinics. There are Down syndrome clinics almost in every state, but it’s questionable whether there is that consortium that is actually pulling all the clinics together to use it as a centralized database as extensively as it can be. The same is true for fetal alcohol syndrome. There are scattered clinics and research centers that collaborate, but it’s not as strong and comprehensive as the Fragile X model.
• Goals of the consortium are to: improve clinical care for Fragile X patients and families by specialized evaluations and treatments using experienced providers who are able to help families; expand the knowledge base for effective interventions; use consortium collaborations to increase and improve interventions for Fragile X families; improve care for difficult cases; and use clinics in specific geographical areas to provide outreach and education so that schools and other providers and community agencies in each state have access to exchange of information with the clinics.
• There’s a lot of new basic science research occurring where there are new pharmaceutical agents that actually interfere in that pathway where the Fragile X protein works. The consortium can help boost the action of the Fragile X protein that is there and help with neurodevelopment. Consortium members want the consortium to be big so that when new agents and medications come out, there will be many different sites studying the medications and helping to use them to cure Fragile X, which is the goal of the consortium. The goal to cure Fragile X is to be able to work on replacing that protein or stimulating that same pathway and the places where that protein works in neurodevelopment.
• The consortium is working on developing standards of comprehensive service to be provided by all the clinic members.
• Some of the challenges to the clinic are: some of the staff positions and services (such as assessment and treatment for intellectual disabilities) that “really tie the clinic together” are not billable to insurance, and must be funded by the institution or funded by research grants or other types of grants to sustain the clinic