Intellectual and Developmental Disabilities Branch (IDDB)

Child reading a bookOverview/Mission

IDDB sponsors research and research training aimed at preventing and ameliorating intellectual and related developmental disabilities. When the institute was created in 1962, one of its primary charges was to encourage investigations of human development throughout the lifespan, with an emphasis on understanding intellectual and developmental disabilities (IDDs).

The mission of IDDB is to support a program of research in IDDs, including common and rare neuromuscular and neurodevelopmental disorders, such as Down, Fragile X, and Rett syndromes; inborn errors of metabolism; autism spectrum disorders; and conditions currently and soon-to-be detectable through newborn screening. IDDB has a long and respected history of providing support for a diverse portfolio of research projects, contracts, training programs, and research centers dedicated to promoting the well-being of individuals with IDDs at all stages of development.

Understand the Etiology of Intellectual and Developmental Disabilities (IDDs)

Gap: At present, the IDD field is hindered by a lack of understanding of the etiology of IDDs, especially regarding genetic and epigenetic causes, and by a lack of knowledge on the interaction between genes and environmental exposures.

Priority: Interdisciplinary studies with an emphasis on the cellular, genetic, epigenetic, and environmental factors that contribute to the cognitive and behavioral manifestations of IDDs, including Down, Fragile X, and Rett syndromes; inborn errors of metabolism; and autism spectrum disorders.

Understand the Complexity of Comorbid Symptoms

Gap: To develop interventions for improving daily functioning and health in children and families with IDDs, more knowledge is needed about the comorbid symptoms of these disabilities.

Priority: Support research on one or more comorbid conditions of IDDs, including disordered sleep, self-injurious behaviors, obesity, gastrointestinal dysfunction, seizures/epilepsy, attention deficit/hyperactivity disorder, anxiety, depression, psychosis, and other mental health disorders.

Improve Screening and Early Diagnosis and Develop Early Interventions and Treatments

Gap: Evidence is needed to demonstrate that early screening and intervention can improve IDD outcomes.

Priority: Encourage research on the development and/or implementation of new screening tests for the prenatal, newborn, and early childhood periods that assess the efficiency and effectiveness of translating these tools into clinical care and the community setting.

Develop Appropriate, Valid Biomarkers, and Preclinical and Clinical Outcome Measures

Gap: The field lacks valid and rigorous biomarkers and outcome measures for use in clinical trials related to IDDs.

Priority: Establish the validity of biomarkers and outcome measures for IDD symptoms, severity assessments, and treatments, especially outcomes targeting cognitive (including language), behavioral (adaptive or maladaptive), social, and medical issues.

Natural History and Neurobiological and Behavioral Transitions

Gap: The natural history of many IDD conditions is poorly understood.

Priority: Support projects that examine transitional time periods of interest for IDDs, including pre-symptomatic, adolescent to adulthood, middle adulthood to aging (e.g., prevalence of dementia in IDD populations), and causes of mortality.

Translational and Implementation Research

Gap: A lack of specific and effective treatments exists for many IDDs.

Priority: Promote the development, dissemination, and implementation of treatments for IDDs that will impact clinical care and improve quality of life, including physiological, cognitive, and behavioral manifestations.

  • Melissa Parisi, Branch Chief
    Main Research Areas: Brain malformations (microcephaly, lissencephaly, hydrocephaly, neural tube defects, cerebral palsy, other brain studies not specified in another category); chromosomal aneusomy disorders; Down syndrome: basic biology; genetic syndromes (in the context of intellectual and developmental disabilities); IDD genetics; EKS IDDRCs; newborn screening; rare diseases; Rett syndrome/MECP2
  • Sujata Bardhan
  • Alice Kau, Health Scientist Administrator
    Main Research Areas:Autism Spectrum Disorders; IDD behavioral studies; rare diseases
  • Tracy King, Medical Officer
    Main Research Areas:Down syndrome: clinical aspects; epilepsy; Fragile X syndrome, excluding FXPOI; IDD-related obesity, sleep, gastrointestinal disorders, and self-injurious behavior; Prader-Willi Syndrome; rare diseases; tuberous sclerosis complex
  • Danuta Krotoski, Health Scientist Administrator
    Main Research Areas: Basic mechanisms and neurobiology of IDDs; ischemic brain injury; metabolic/mitochondrial disorders (lysosomal storage diseases and mucopolysaccharidoses); muscular dystrophies/spinal muscular atrophy; newborn screening; rare diseases
top of pageBACK TO TOP