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ARRA Investments in Intellectual and Developmental Disabilities

Public Health Burden
Millions of American children and adults suffer from intellectual and developmental disabilities (IDDs), including autism, spina bifida, Down syndrome, Fragile X syndrome, and other neurodevelopmental disorders. For people with IDDs, the impact is lifelong and pervasive -- affecting health, education, family life, employment opportunities, and overall well-being. Research into the underlying causes and detection of IDDs, as well as developing new approaches to prevention and treatment, are thus paramount to improving the lives and health of people from infancy through adulthood.

Basic Science
Understanding both normal and atypical development is crucial for determining the causes of IDDs and, in turn, developing prevention and treatment strategies.  ARRA-funded grants are helping to advance our knowledge of the mechanisms underlying IDDs.
  • Scientists are characterizing early brain development abnormalities in a mouse model to understand atypical brain development in Down syndrome.1
  • Abnormal formation of the space between nerve cells, called synapses, has been associated with intellectual disability and autism.  Researchers are studying glial cells’ role in synapse formation.2
  • Dysfunction in a protein (FMRP) can cause Fragile X syndrome, the most common inherited form of intellectual disability.  To better understand how this protein triggers Fragile X syndrome, scientists are investigating how FMRP affects mRNA translation and local protein synthesis.3
Early Detection
Early detection and diagnosis of IDDs are critical for employing interventions as soon as possible, when they can be most effective.  Several ARRA-funded grants are using cutting-edge technologies to improve early IDD detection.  A few include:
  • Investigating whether electroencephalogram (EEG) data from at-risk infants can predict brain abnormalities and later developmental delays.4
  • Determining whether diffusion tensor brain imaging (DTI) can be used to distinguish children with intellectual disabilities from developmentally-delayed children who will later catch up with their typically developing peers.5
  • Providing the equipment required for developing more cost-effective screening methods for DiGeorge syndrome, a common and serious congenital disorder that often goes undiagnosed.6
Environmental Risk Factors
The causes of many IDDs are not clear, but some factors have been linked to IDDs in children, including iron deficiency and lead exposure.  ARRA-funded grants are speeding research into such links to open new avenues for preventing the occurrence of these conditions.
  • One grant is facilitating research on the impact of iron supplementation on brain function in iron-deficient infants. Additionally, a second grant is providing a better understanding of how iron affects brain development using an animal model.8
  • Researchers are investigating the minimal level of lead in the blood that can be associated with impaired cognitive function.9
  • ARRA funding is advancing research on the impact of prenatal influenza virus infection on subsequent brain structure and behavior abnormalities in the infected mother’s offspring.10
Developing Treatments
Many IDDs lack effective treatments.  ARRA-funded grants are using preclinical models as a platform for developing and testing new treatment strategies.
  • One grant is speeding the pace of research testing new treatment strategies for rare inherited metabolic disorders using an animal model and patient cell cultures.11
  • Researchers are using a mouse model of Fragile X syndrome to identify drug targets for treatments.12
  • Scientists are inducing Down syndrome-specific pluripotent stem cells and differentiating them into brain cells (neurons), providing a human-specific model for examining brain development in Down syndrome and for designing and testing intervention strategies.13
  • ARRA funded grants are providing the cutting-edge equipment, technologies, and staff necessary to speed progress in IDD research at the NIH’s long-standing centers for IDD research.  Resources are being enhanced to test drugs and develop screening tests in rodent models at one Center,14 and  additional equipment will help researchers at another Center collect and analyze electrophysiological data from children and  examine pharmacological intervention strategies in animal models.15

  1. 1R01HD057580-01A2 -- Forebrain Development in Down Syndrome and in Ts65Dn model mice -- Haydar, Tarik F (DC)
  2. 1R15HD061831-01 -- Glia as a source of signals for neuron development -- Withers, Ginger (WA)
  3. 1R01HD061344-01A1 -- FMRP-mediated translation regulation in neuronal development -- Feng, Yue (GA)
  4. 1R03HD060671-01 -- EEG Synchrony, perinatal risk and outcome: analysis of CHIME data -- Grieve, Philip George (NY)
  5. 1R01HD059817-01A1 -- Diffusion tensor imaging biomarker in developmental delay -- Sundaram, Senthil (MI)
  6. 3R21HD060309-02W1 -- Development of Population-Based Screening for DiGeorge Syndrome Type 1 -- Mitchell, Aoy Tomita (WI)
  7. 3R01HD029421-15W1 -- Newborn Iron Deficiency -- Georgieff, Michael K (MN)
  8. 3R21HD054490-02W1 -- A Genetic Model of Perinatal Hippocampal Iron Deficiency -- Georgieff, Michael K (MN)
  9. 3R21HD060120-01W1 -- Lead, Genes, and Cognition in Underserved Children -- Sobin, Christina (TX)
  10. 3R01HD046589-04W1 -- Prenatal Virally Induced Brain Disorder in Mouse -- Fatemi, Seyyed Hossein (MN)
  11. 1RC1HD064159-01 -- Testing Substrate-Flux Therapies for Glycosylation Disorders using Zebrafish -- Freeze, Hudson H (CA)
  12. 3R01HD056370-01A2W1 -- Cortical circuit changes and mechanisms in a mouse model of Fragile X Syndrome -- Gibson, Jay Robert (TX)
  13. 1R21HD060134-01A1 -- Generation of trisomy 21 induced pluripotent stem cells -- Bhattacharyya, Anita (WI)
  14. 3P30HD024064-21W1 -- Baylor Intellectual and Developmental Disabilities Research Center -- Zoghbi, Huday (TX)
  15. 3P30HD003110-42W1 -- UNC Developmental Disabilities Research Center -- Piven, Joseph (NC)

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Page Last Updated on June 30, 2018 NIH...Turning Discovery Into Health®