Introduction: Bioethics and intelectual disability- scientific promise, social context and policy

We are living in an extraordinary era of biological discovery involving molecular genetics and developmental neurosciences. Using these powerful tools, we have been able to understand some of the complex biological pathways underlying learning and cognition. Gender, epigenetics, and gene-environment interactions have all been identified as causative factors. These advances have occurred because of our recognition that new scientific information is needed to enhance current prevention and treatment strategies. However, these advances are occurring in times of economic restraint, marked by continual gaps in federal and state funding for basic, clinical, and translational science. The current issue of DDRR is focused on the theme “Bioethics and Intellectual Disability: Scientific Promise, Social Context and Policy.” The co-editors from the University of Chicago represent expertise in neurodevelopmental pediatrics, bioethics, and clinical genetics, and have been involved with developing community systems of care for vulnerable children and adults with intellectual disability.

This issue begins by addressing the current state of genetic testing and screening and brings to mind one of Allen Crocker's maxims for the care of individuals with disabilities: “A thoughtful consideration of etiology for the person's developmental disorder shall have been made or be made, recorded in defensible and available form, shared with the family and the medical providers, and updated as new technology suggests a potential value therefrom.” [Crocker,1987] Bauer and Msall review testing recommendations for Autism spectrum disorders, highlighting how scientific developments, such as chromosomal microarray and molecular probes, have enhanced our recognition of complex phenotypes (Fragile X, TS Complex, 15q^-, PTEN). [Manning et al.,2010] On a policy level, they conclude that the increased recognition of Autism spectrum disorders in early childhood requires improved access to genetic counseling and to quality educational interventions. In their article about the expanded newborn screening for lysosomal storage diseases, Waggoner and Tan echo this call for sustained investment in comprehensive interventions. Over the past 50 years, research advances in lysosomal storage disease have resulted in an array of new biomedical interventions, including enzyme replacement for Fabry, Pompe and Gaucher diseases and stem cell therapies for Krabbe disease, Metachromatic, and Adrenal Leukodystrophies [Beck,2007]. This scientific progress has made newborn screening for these diseases feasible. Moving forward, Waggoner and Tan cite important cautions and provide a framework for newborn screening that emphasizes preventing disability and supporting families, with both compassion and vigorous attention to science.

Moving from identification to treatment, we learn from a second maxim from Crocker: “The person, family members and/or their surrogates shall share in all decision-making with extraordinary attention shown to display options, risks, and benefits.” [Crocker,1987] The next two articles explore the risks and benefits of imperfect treatments for developmental disabilities. Bell et al. discuss the role of complementary and alternate therapies in developmental disabilities. They outline an ethical framework to respond to the parental requests for unproven, nonstandard treatments and describe how new social media will influence the nature of these requests. Lantos examines if expensive treatments with variable outcomes provide sufficient grounds to justify public health screening policy. He argues that this tension, viewed from the complementary perspectives of ethics and research, can be used to advance both science and medical care.

However, despite scientific progress in diagnosis and treatments, the practical implementation of these advances is uneven across the lifespan for individuals with disabilities. Focusing on chromosomal disorders, Acharya examines discrepancies between prenatal and postnatal perspectives of disability and how professional screening guidelines may reinforce these misperceptions. She highlights the potential impact of newer diagnostic techniques (i.e. comparative genomic hybridization) to prenatally detect more subtle genomic abnormalities. Using a biopsychosocial model, Vander Ploeg Booth extends this focus, evaluating disparities in health care across the lifespan for individuals with disabilities. Even though community advances have improved the health outcome of children and adolescents with Down syndrome, Yang and colleagues found that increased life expectancy in Down syndrome did not hold across the diverse US population [Yang et al.,2002]. In particular, individuals with Down syndrome of African–American and Latino descent had shorter life expectancies with most not surviving young adulthood. Whether this reflects poorer access to primary and specialty medical care or to basic community resources is not known. However, the extent of these health disparities in intellectual disability make it a high priority area for critical study and program development.

We conclude with a third principle from Crocker: “Supportive health care services shall be maximally unobtrusive, shall celebrate the presence of wellness and look as well to buttressing the state of personal happiness” [Crocker,1987]. Supportive health services are not limited to medical care, but also encompass comprehensive educational services as well as resources to improve social and economic well-being and community participation. In her article about the impact of pioneering educational laws, Belcher describes the challenges faced when community-based interventions to optimize the developmental functioning of children are implemented. Despite the recognition that early intervention improves developmental trajectories, resources are unequally divided between early and later childhood. It is essential that more resources be available at the most critical periods in development. Pollack reviews social and public policy programs that were the culmination of federal legislation which provided essential supports across the life span to individuals with intellectual disability. In the 50th anniversary year of the JFK inaugural, we are lead to understand how mothers advocating in groups (NARC, now ARCUS) for health, early childhood education, vocational and community supports revolutionized the safety net for children and adults with intellectual disability [Mayo,1962]. Pollack emphasizes the promise of health reform while demonstrating how current state budget restraint will lead to significant gaps in basic community supports, which will adversely affect health outcomes.

As we move forward, it is crucial that individuals with disabilities are both beneficiaries of research advances and play an active role in the scientific process. As a society, we aim to protect the interests of vulnerable populations like children, pregnant women and individuals with intellectual disabilities. Inadvertently, our protection has excluded these populations from research participation. Feudtner and Boscoe examine this tension and explore what if any special protections are needed for individuals with intellectual disabilites. They conclude that a thoughtful application of standard protections would strike the correct balance between risk and benefit.

We hope the readership will find these articles current, balanced, and though provoking. Importantly, we hope we can bridge Crocker's maxims with our quest for informed policies that promote wellness and diversity.