Developmental disabilities, including mental retardation and other disorders that affect personality, intellectual abilities, social interactions and general cognitive performance affect a large fraction of the population in the United States at some stage of their lives. In addition to these primary disorders of brain function, there are many other disabilities that result from primary disruption of other organ systems including the immune, cardiovascular, respiratory, musculo-skeletal and endocrine systems that may also result in developmental disabilities either through direct actions on those systems and/or through secondary effects on the central nervous system. Taken together, these developmental disabilities account for a substantial health burden in the United States (5-10% of the population at a given stage of life representing up to 25 million people) with similar patterns throughout the world (with even greater portions among developing countries) with affected individuals in the hundreds of millions. In addition to the personal suffering and the emotional impact on individuals and families, the burden of these disorders is staggering in terms of economic impact for provision of continuing health care and support services and contributions to society lost. Over the course of the second half of the twentieth century and into the twenty first century, a number of factors have conspired to increase the urgency of addressing these disabilities including: apparent increases in the frequency of certain disorders (e.g. autism spectrum disorders), the technical advances in medicine that have allowed for the rescue and sustainability of very low birthweight and premature infants, the ability to treat a wide spectrum of disorders associated with developmental disabilities effectively prolonging the lives of people with them, the increasing environmental toxic burden in the nation (and world's) air, water and food supplies, the continuing emergence and re-emergence of infectious diseases, many of which can affect developing fetuses and children, exposure to addictive substances such as nicotine, alcohol and various drugs of abuse, the large fraction of the world's children that survive near or below the poverty level, often without adequate daily nutrition or medical care (including prenatal care for mothers) and the perverse converse situation in affluent societies such as the U.S. with diseases of over abundance and indulgence such as childhood obesity and the large fraction of the nation's children who have either no or inadequate insurance and access to healthcare in the United States (10-20%). It is clear that there is no single solution to the wide range of problems confronting the nation (and world) for dealing with this challenge, particularly since there are several hundred known developmental disorders and even more causes ranging from genetic to environmental to infectious to nutritional to psycho-social to economic to educational and that a consilience of ideas, strategies and cross-discipline research and policy initiatives are required to attack most any one. However, there are a number of programs attempting to accomplish exactly that and the nation's Mental Retardation Developmental Disabilities Research Centers (MRRCs or MRDDRCs) represent a major program that promotes cross- and multi-disciplinary research at a number of sites around the country to provide scientifically based answers to the questions of causes, mechanisms, treatments and ultimately cures for many of these disorders. These MRRCs were early into the game of providing environments for collaborative research that cuts across scientific disciplines including the biological, chemical, medical, behavioral, economic, informational, educational, and sociological research - 40 years ahead of the much heralded """"""""roadmap"""""""" plan of the NIH in the twenty first century for developing discipline-crossing team approaches to biomedical and behavioral research. The MRRCs provided a structure within academic settings where traditional departmental-based boundaries and rules for tracking credit for scholarly productivity and financial support for the research enterprise often hindered the kind of truly collaborative research that could address the entire range of problems associated with MRDDs. In addition to providing scientific resources in the way of shared core facilities, these Centers also provide an intellectual environment for bringing investigators together from a wide range of disciplines to share their work, listen to the work of others in disparate fields and plan novel and multi-level approaches to vexing questions that often impact multiple systems ranging across levels from molecular to cellular to organ systems to whole person to behavioral and societal. This approach is a signature strength of the entire MRRC program nationwide and a model that newer Centers have expanded upon and that universities and federal agencies have used as a model (although not always acknowledged as such) for modern interdisciplinary research programs. At UAB, there is a rich tradition of this type of interdisciplinary research center. Indeed, since its inception as an independent University in the early 1960s (paralleling the time of the establishment of the MRRCs by the Kennedy Administration), UAB has developed as an institution with a focus on interdisciplinary research where Centers play a major role. Currently, there are 20 University Wide Interdisciplinary. Research Centers (UWIRCs) at UAB that receive over $5M in annual internal funding support from the University (in addition to their extramural support), with several having substantial federal funding and successful track records over many years (e.g. the Comprehensive Cancer Center; the Center for Outcomes Research; the Center for AIDS Research; the Center for Aging; the Center for Biodefense and Emerging Infections, etc.). Thus, when the University won the competitive award (see History below) from Civitan International in 1989 to develop an interdisciplinary research center to focus on developmental disabilities including mental retardation, it was a natural extension of the University' well established culture. Moreover, UAB's history of pediatrics research and clinical service with highly recognized programs in infectious disease, obstetrics and gynecology, the Sparks Clinics for treating children with multiple disabilities and a large range of cognitive disorders and the Developmental Psychology program on intellectual development were a naturally accepting environment for the new CIRC.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Center Core Grants (P30)
Project #
3P30HD038985-05S1
Application #
7330237
Study Section
Pediatrics Subcommittee (CHHD)
Program Officer
Vitkovic, Ljubisa
Project Start
2000-08-04
Project End
2008-06-30
Budget Start
2006-07-01
Budget End
2008-06-30
Support Year
5
Fiscal Year
2007
Total Cost
$252,492
Indirect Cost
Name
University of Alabama Birmingham
Department
Pediatrics
Type
Schools of Medicine
DUNS #
063690705
City
Birmingham
State
AL
Country
United States
Zip Code
35294
Wadsworth, Heather M; Maximo, Jose O; Donnelly, Rebecca J et al. (2018) Action simulation and mirroring in children with autism spectrum disorders. Behav Brain Res 341:1-8
Tarquinio, Daniel C; Hou, Wei; Neul, Jeffrey L et al. (2018) The course of awake breathing disturbances across the lifespan in Rett syndrome. Brain Dev 40:515-529
Killian, John T; Lane, Jane B; Lee, Hye-Seung et al. (2017) Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors. Pediatr Neurol 70:20-25
Tarquinio, Daniel C; Hou, Wei; Berg, Anne et al. (2017) Longitudinal course of epilepsy in Rett syndrome and related disorders. Brain 140:306-318
Butler, Anderson A; Webb, William M; Lubin, Farah D (2016) Regulatory RNAs and control of epigenetic mechanisms: expectations for cognition and cognitive dysfunction. Epigenomics 8:135-51
Heaven, Michael R; Flint, Daniel; Randall, Shan M et al. (2016) Composition of Rosenthal Fibers, the Protein Aggregate Hallmark of Alexander Disease. J Proteome Res 15:2265-82
Robert, Stephanie M; Buckingham, Susan C; Campbell, Susan L et al. (2015) SLC7A11 expression is associated with seizures and predicts poor survival in patients with malignant glioma. Sci Transl Med 7:289ra86
Parrish, R Ryley; Buckingham, Susan C; Mascia, Katherine L et al. (2015) Methionine increases BDNF DNA methylation and improves memory in epilepsy. Ann Clin Transl Neurol 2:401-16
Tarquinio, Daniel C; Hou, Wei; Neul, Jeffrey L et al. (2015) The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders. Pediatr Neurol 53:402-11
Tarquinio, Daniel C; Hou, Wei; Neul, Jeffrey L et al. (2015) Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis. Pediatr Neurol 52:585-91.e2

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