The mission of the Children’s Hospital Boston IDDRC is 1) to focus research on issues of relevance and importance to mental retardation and developmental disabilities, 2) to organize research around clearly defined themes, 3) to accomplish research of the highest scientific merit, 4) to stimulate and facilitate multidisciplinary research with a particular emphasis on combinations of basic and clinical science, and 5) to stimulate and facilitate training in disciplines relevant to mental retardation and particularly to the research themes of this MRRDDC.
Targeted Areas of Research
The National Institute of Child Health and Human Development (NICHD) currently supports 20 mental retardation and developmental disabilities research centers (IDDRCs) throughout the country to advance the diagnosis, prevention, treatment, and amelioration of mental retardation and developmental disabilities. Each of these centers provides core support and facilities for cohesive, interdisciplinary research and research training; funding for the research projects using these core facilities come from independent sources including Federal, State, and private organizations.
IDDRCs are meant to bring together scientists from a variety of disciplines to work on the common problems of MRDD. There is a strong emphasis on the translation of basic research observations into patient-oriented protocols whose ultimate aims are to validate the mechanistic basis of MRDD in humans, and to develop new approaches for the prevention, diagnosis and treatment of MRDD.
Examples of the topics considered particularly relevant to the goals of the Center include the following:
- Developmental and neurobiological studies to define the molecular and cellular bases of MRDD and to facilitate development of specific hypotheses about basic abnormalities that underlie these conditions.
- Studies of cellular and molecular aspects of brain development: differentiation, synapse formation and modification, plasticity, trophic factors, and neurotransmitter function and modulation.
- Applied clinical and experimental studies of inborn errors of metabolism relevant to MRDD that involve pathophysiology of cellular and subcellular organelles.
- Development of novel and innovative technologies for pre- and post-natal diagnosis of common and rare causes of MRDD; investigation and therapy of conditions associated with MRDD.
- Studies of the genetic and epigenetic basis of MRDD by molecular genetic, genomic, and proteomic approaches.
- Studies of the pathways by which genotype affects the development, function, and dysfunction of the nervous system, particularly with respect to cognition and behavior.
- Creation and characterization of animals that, through genetic alteration, model specific important aspects of MRDD by clear neurodevelopmental, pathophysiological, genetic, and/or functional homology, and their use to test existing and to develop new medications that are safe and effective for individuals with MRDD.
- Prenatal therapy of genetic and structural defects using nutritional, pharmacological, surgical, and other techniques.
- Genetic, molecular, behavioral, and biobehavioral research and therapeutic approaches to the MR syndromes, such as Down, Fragile X and Rett.
- Studies of physical environmental factors in the etiology, treatment, and prevention of MRDD, such as heavy metals (e.g., lead and mercury) and toxic wastes (e.g., hydrocarbons and polycarbonates or PCBs) and their effects on morphogenesis and function that contribute to MRDD. Areas of interest include developmental and behavioral teratology, neuroimmunological toxicology, and conditions such as fetal alcohol syndrome.
- Studies of the effects of malnutrition (protein, caloric, micronutrient) on intellectual, behavioral, social, and physical development; intergenerational effects of malnutrition.
- Studies of psychopharmacology, including medication use and development; cellular and molecular mechanisms, pharmacokinetics, behavioral effects; rational drug development (e.g., combinatorial chemistry, pharmacogenomics); medication use and treatment efficacy in different subpopulations of MRDD; dual diagnoses.
- Clinical trials for the treatment, amelioration, and/or prevention of MRDD.
- Studies of infectious diseases in the etiology, treatment, and prevention of MRDD; neuropathological, neurological, behavioral, and intellectual consequences of AIDS in children.
- Studies that develop and test novel methods and measures for screening and diagnosis, and/or identify children and infants at risk; validation of emerging technologies (e.g., microarrays, proteomics, microanalysis of analyates, biomolecule sensing, mass spectrometry, functional imaging) for screening and diagnosis.
- Studies that develop methods to better define clinical phenotypes, including sources of variability, in MRDD, with particular focus on characteristic components of behavior and cognition; measurement tools to assess cognitive and behavioral development; tests that highlight abilities and disabilities, including tests for specific subpopulations (e.g., specific inborn errors of metabolism and syndromes such as Down, Fragile X, Prader-Willi, and Williams).
- Studies involving early interventions (biological, behavioral, educational, environmental) for infants born at risk for MRDD; research into the strategies for early intervention; follow-up of high-risk infants and children whose risk is due to biomedical conditions such as low birth weight and/or conditions of environmental deprivation; studies of intergenerational effects and outcomes for children whose parents have conditions associated with MRDD; effects of teen pregnancy on at-risk infant outcome.
- Predictive and developmental studies of perinatal problems associated with MRDD; developmental studies of low birth weight, including infants who are small for gestational age, preterm, medically fragile, and neonatally sick (such as those who experience hypoxic or ischemic insults).
- Neurodevelopmental and longitudinal studies that characterize the neuropathogenesis and inherent variability in MRDD to develop specific hypotheses about the initial (primary) abnormality, and to address the degree to which phenotypic variation impacts upon postnatal brain development.
- Studies to follow the developmental trajectories of different brain functions and their influence on developing cognitive and motor skills; such studies might use techniques of imaging, electrophysiology, pharmacology, molecular biology, and behavioral science.
- Studies of psychological processes in MRDD, including attention, cognition, information processing, perception, motor development, neuropsychology, and affective, social, motivational, and personality factors.
- Studies of autism and autism spectrum disorders: screening and diagnosis, etiology, neurobiology, genetics, pathophysiology, developmental course, using medical, biological, and pharmacological approaches; behavioral and pharmacological interventions.
- Studies involving manipulations of interaction between behavior and environment of individuals with MRDD throughout the life-span to reduce behavior problems or to facilitate vocational training, social and self-help skills, and learning; use of social support networks; parent-child, sibling, peers, and family interactions over the life-span.
- Studies that examine and evaluate residential, educational, and vocational settings of individuals with MRDD throughout the life span.
- Studies of learning disabilities, dyslexia, and attention deficit hyperactivity disorder.
- Studies of language and communication in MRDD populations.
- Studies of socio-ecological processes: individuals with MRDD from various cultural and ethnic groups in multiple settings (naturalistic observation); ethnographic research, life history reporting, and systematic observation of specific activities.
- Studies of hyperaggressive, destructive, and self-injurious behavior in humans and animal models, including pharmacological and behavioral treatments; stereotypic behaviors; lack of adherence associated with MRDD in family and educational settings.
- Studies of the epidemiology of MRDD: analytic and case-control studies of etiology; incidence and prevalence; follow-up over the life span for outcomes.
- Studies that examine and evaluate behavior, life styles, health needs, and health disparities of affected individuals that could affect mortality and morbidity throughout the life span.
- Studies that develop and utilize assistive devices (e.g., computer software, hand-held devices, and touch screen computers) to help individuals with MRDD to learn and communicate.