MEDICAL RESEARCH UPDATE 1999.

We contacted members of our Editorial Advisory Board as well as other professionals who have contributed their knowledge to articles in Exceptional Parent, and asked them to share their perspectives on the most important current research in their respective fields or in general and its relevance to children and young adults who have special needs. These professionals, representing a range of disciplines, have responded with a thought-provoking body of information indicating some exciting possibilities for the future. We present their commits here.--The Editors

GENE THERAPY

It is estimated that by the end of the year 2000, the entire human genome will have been "cloned." This means that scientists will have identified the 80,000 or so genes that serve as the blueprint for the production and function of a human being. This is but the first step of what we are hopeful will lead to the determination of which specific genes, when defective, cause various developmental disabilities. Once we can assess the linkage between these genetic defects and a developmental disorder, it may allow us to develop more specific and earlier approaches to the treatment of children with special needs. It is estimated that over half of all developmental disabilities in childhood are genetically determined or influenced. Thus these advances are likely to have a significant impact on the care of our exceptional children.

One such innovative approach is gene therapy. The idea here is to correct a disorder by giving copies of a new gene that will serve in place of the defective gene. This idea is currently being tested in certain inborn errors of metabolism of childhood. In these disorders, the gene "mutation," or error results in the deficient production of an enzyme that normally breaks down a toxic material produced by the body. A common example of an inborn error is PKU or phenylketonuria (a metabolic disorder caused by an enzyme deficiency. It involves accumulation of certain amino acids in body fluids, resulting in mental retardation). In PKU, specific dietary restriction has been found to have enormous benefit by preventing the buildup of toxins, but in many inborn errors, there remains no effective treatment. Gene therapy studies are now going on using viruses to act as "taxis" to move copies of the new gene into the body. These studies are being done first in animal models of human disease, to determine if gene therapy is feasible and safe. It is likely that gene therapy trials in children will become common over the next five years, with the goal that some of these will be successful, adding a new approach to our armamentarium for treatment of children with disabilities.

Mark L. Batshaw, MI).
Chairman and Academic
Children's National Medical Center
Fight For Children Chair
The George Washington University
Washington D.C.

DEVELOPMENTAL DISABILITIES

What is the most important research going on currently in the field of developmental disabilities? That is a tough call, but I would like to offer the following list of a dozen topics that are of a crucial nature, in terms of the goals they seek to reach:

SCIENTIFIC

(1) Use of improved genetic technology from the Human Genome Project for clarification of the "nosology" or classification of certain disorders, analysis of complex inheritance patterns, and the presence of relevant host factors.

(2) A greater understanding of the foundations of autism, acknowledging its apparent "heterogeneity," partial genetic elements, and increased incidence.

(3) Insight on the special relationship of the thyroid gland to the genesis of Trisomy 21 (Down syndrome) and to the optimal long-term course of involved persons.

(4) Identification of the basic cause of Rett syndrome (a degenerative disease behaviorally somewhat similar to autism) where a biologic origin seems probable but has been elusive.

THERAPEUTICS

(1) Further development of the capacity for enzyme replacement therapy, noting the current promise in Hurler syndrome, one of the mucopolysaccharidoses (MPS)disorders.

(2) A broadly-based study and collaboration in the area of alternative therapies including items from secretin to acupuncture.

(3) Support of continuing research in gene transfer therapy, including trials for important disorders.

(4) Further development of the inventory of pediatric psychopharmacologic agents for serious behavioral aberrations.

(5) Gains in the medical treatment of spasticity-involving drugs and bacterial products, by varying routes of administration.

SYSTEMIC ISSUES

(1) Further analysis of the magic of good prenatal care, with particular reference to its influence on preterm birth and infant mortality.

(2) Thoughtful evaluative studies on the effects of "inclusion" (integrated environments) for persons with exceptionality in classroom, workplace, and community.

(3) Sampling of public opinion about disabilities, the consequences of this force, and way of influencing it favorably.

Allen C. Crocker, MD
Director, Developmental Evaluation Center Children's Hospital,
Boston, MA

GREAT STRIDES IN GENETIC INFORMATION

The most remarkable changes which have impacted pediatric neurology over the last decade have resulted from the explosion of genetic information. As a consequence, it has become apparent that diseases which appear to be clinically similar are genetically distinct. Conversely, diseases which have different clinical presentations can be closely related from a genetic viewpoint. The accretion of genetic information has already facilitated the diagnostic process for a large number of neurologic diseases, notably the hereditary forms of cerebral palsy, the various disorders of posture and movement that affect children and adults, and the various forms of hereditary dementias. With progress continuing at the same rate, or more likely at an accelerating rate, most scientists expect that the genetic information will soon be translated into disease-specific treatment.

John H. Menkes, MD
Professor Emeritus of Neurology and Pediatrics, University of
California, Los Angeles
Director of Pediatric Neurology, Cedars-Sinai Medical Center,
Los Angeles, CA

EFFECTIVENESS OF EARLY INTERVENTION 

This research has been ongoing since at least the 1960's when we became concerned about how to develop and document the preventative and ameliorative programs to help children at risk for developmental problems and health issues. The central question remains, how successful have these programs been? The newer generation of research needs to focus on the relationship between the characteristics of a child and his or her family, and particular program (treatments) and specific outcome goals. This tailoring, (e.g., child/family to specific outcomes) is the needed direction for intervention research to be both effective and meet family-designated expectations for a "quality of life" in the long term. Both health researchers and research design need to incorporate families into the agenda.

Dennis C. Harper, Ph.D., ABPP
President, American Academy for Cerebral
Palsy and Developmental Medicine
Rosemont, IL

IMMUNOLOGY, GENETICS, AND METABOLISM

As a primary care pediatrician, I tend to be most interested in advancements and research in medicine that are now or soon will be of direct benefit to my patients who have special needs. The areas that will have a direct, long term, impact on the majority are primarily in immunology, genetics, and metabolism. Since these broad areas have overlapping features, advances will also prove useful in diagnosis and in treatment of many diverse disorders. For instance, coupled with advances in the areas of genetics is gene therapy. This in turn is particularly advantageous in the treatment of certain metabolic diseases for which there are presently no known treatment or cure. Gains in scientific knowledge in immunology, genetics, and metabolism will facilitate improved diagnoses which is the first step in treatment for many conditions.

Research in all areas of medicine are critical whether there is a special health care need present or not and should be supported by all of us, especially our government.

David Hirsch, MD
Pediatrician
Phoenix Pediatrics
Phoenix, AZ

REHABILITATION RESEARCH

According to Dr. Marcel Dijkers, Manager of Research at Rehabilitation Institute of Michigan, there are three areas in rehabilitation research that are very exciting. First is the research on universal design and special technologies. Providing access is crucial in order to allow people who have sensory or motor impairments to participate on an equal level in social and economic life of the 21st century. Research on access to telecommunications and other technologies will allow people to use computers and the Internet to perform all types of daily activities: from working to shopping, from learning to playing, and from communicating with healthcare providers to dating.

Second, virtual technology research offers people with disabilities the opportunity to inexpensively try out the benefits of environmental changes, or practice using a wheelchair or other assistive equipment. Many parents of children with disabilities know the frustration of purchasing a piece of equipment that is not as functional as expected.

Third, new research defines disability as resulting from the "lack of fit" between the environment and certain impairments in the person (according to the National Institute on Disability and Rehabilitation Research's "new paradigm"). This definition has the potential to dramatically change our approaches to how people who have a disability are accommodated in schools, places of employment, and other public places. This will go beyond what is required by the Americans with Disabilities Act (ADA), and may provide the means to truly improve social, educational, and workforce participation levels.

Marilyn Wayland, Ph.D.
Assistant Professor
Physical Medicine and Rehabilitation
Manager, Education Department and
Learning Resource Center, Rehabilitation
Institute of Michigan
Wayne State University School of Medicine,
Detroit, MI

CREATION OF NATIONAL CENTER FOR OUTCOMES RESEARCH (NCOR)

The importance of evaluating the effectiveness of habilitation programs for children with special healthcare needs has become a pivotal issue. "Outcomes" and evidence-based practices are an offshoot of the managed care revolution. Outcomes are used to qualify and maintain funding pipelines, but what is more important, is that they are used to identify and redesign new program opportunities that truly reflect the needs of individuals. The Administration of Developmental Disabilities in the United States Department of Health and Human Services awarded a multi-year grant to The Council on Quality and Leadership in Supports for People with Disabilities to create the next generation of applicable outcomes measurements. These new outcomes are a departure from the historical program evaluations and are emerging as "personal outcomes." The Seven "personal outcome" domains, or points of reference for human potential, include: Identity, Autonomy (ability to make choices and develop self reliance), Affirmation (positive interaction with care providers as a person not a case), Attainment (reaching goals), Safeguards (supports in place to ensure that the environment provides protection to achieve all the above), Rights, and Health and Wellness. The Center will develop flexible, adaptable, and cost-effective methodologies, outcome surveys, and training and technical assistance that can be replicated and used throughout the human service system.

Rick Rader, MD
Director, Morton J. Kent Habilitation Center
Orange Grove Center,
Chattanooga, TN

RESOURCES

Dr. Rader recommends the following for further information:

The Council on Quality and Leadership in Supports for People with Disabilities 100 West Road, Ste. 406, Towson, MD 21204; telephone: [phone].

DYNAMIC INTERACTIVE LEARNING

I am most impressed with how much children with different processing problems, including language and cognitive differences can grow and develop intellectually and socially when they have opportunities to be very interactive with their parents, siblings, peers, educators, and therapists.

The key to this is dynamic interactive learning where the child is mobilized at six fundamental levels including: sharing attention, engaging, interacting with gestures, solving long problems with interactive sequences, and to a degree, using ideas, and building bridges between ideas. To be successful, however, these learning interactions also need to be geared toward the child's individualized processing challenges (eg. stronger in visual, spacial, but weaker in auditory processing). Furthermore, we are observing more and more that these types of learning interactions can cause individuals to make significant progress in adolescence and adulthood, as well as in the early childhood.

Stanley I. Greenspan, M.D.
Clinical Professor of Psychiatry and Behavioral Pediatrics,
The George Washington University Medical School, Washington, D.C.

RESOURCES

For more information on this topic, Dr. Greenspan suggests these books:

The Child With Special Needs: Encouraging Intellectual and Emotional Growth by Stanley I. Greenspan, Serena Weider, Ph.D. Robin Simon (Contributor) Addison Wesley Publishing, 1998.

The Growth of the Mind: And the Endangered Origins of Intelligence by Stanley L Greenspan, Beryl Lieff Benderly (Contributor) Addison Wesley Publishing, 1998.