Research on Autism/Autism Spectrum Disorders

Environmental Health Perspectives, June 2001 | Go to article overview

Research on Autism/Autism Spectrum Disorders

The purpose of this program announcement is to encourage grant applications for research to elucidate the diagnosis, epidemiology, etiology, genetics, treatment, and optimal means of service delivery in relation to autistic disorder ("autism") and autism spectrum disorders. These complex disorders are usually of lifelong duration and affect multiple aspects of development, learning, and adaptation in the community, and thus represent a pressing public health need. The etiologies of these disorders are poorly understood but are thought to include genetic, metabolic, immunologic, and infectious or other environmental influences.

Etiology research involving these disorders requires well-integrated, multidisciplinary, methodologically rigorous scientific approaches and access to a sufficient number of well-characterized patients with these disorders. Basic research into the pathophysiology of autism and autism spectrum disorders, including research on brain mechanisms and genetics, is of special interest. Also of interest are clinical and applied investigations that may lead to the development of diagnostic research instruments, treatments, and intervention strategies.

Areas of interest include but are not limited to 1) epidemiology: development of new screening tools; research on the expression of the full range of autism spectrum disorders; studies on their developmental course; studies that characterize the range of expression within families; research on co-occurring features; and studies to determine risk factors in the etiology of autism, including environmental exposures during pregnancy and early childhood; 2) early identification and diagnosis: key diagnostic features associated with various stages of development; assessment of comorbid features including hyperactivity, attentional dysfunctions, epilepsy, and obsessive-compulsive symptoms; assessment and further differentiation of subtypes of autism spectrum disorders including autism, Asperger disorder, Rett disorder, and childhood disintegrative disorder; and developmental factors relevant to reliable and valid diagnosis; 3) genetic studies: large-scale linkage studies of affected relative pairs or extended pedigrees to identify chromosomal regions harboring disease susceptibility genes; family-based association analysis and other linkage disequilibrium approaches to identify a specific susceptibility gene; high-resolution mapping and positional cloning studies; resolution of locus heterogeneity; analysis of the interaction of autism susceptibility gene(s) with environmental exposures and/or genes responsive to environmental insult; and testing for potential candidate genes; 4) studies of brain mechanisms: studies of brain mechanisms underlying development, regulation, and modulation of behaviors characteristic of autism and autism spectrum disorders, particularly mechanisms involving communication and social interaction; studies of brain mechanisms and biologic factors underlying autistic regression or the loss of previously acquired skills; studies of brain mechanisms involved in the development of abnormal electroencephalograms and epilepsy and studies to clarify the subtypes of seizures and seizure disorders in autism; studies to define the neurobiologic basis of neurologic abnormalities and neuropsychiatric symptoms, including motor stereotypes, gait abnormalities, akinesias, dyskinesias, obsessive-compulsive traits, and the exacerbation of these symptoms, including the role of neuroimmune/autoimmune factors; studies that seek to define basic processing deficits using neuropsychologic and cognitive neuroscience techniques; and studies to develop animal models of brain dysfunction in autism and autism spectrum disorders based on genetic or environmental factors or their interaction.

Also: 5) communication skills: longitudinal developmental studies of behaviors that are precursors to later communication and their emergence in children with autism and autism spectrum disorders; sensory, motor, and social-cognitive impairments that affect interaction and communication; predictors of loss of or regression in expressive language abilities; the nature of severe spoken language deficits when other areas of function (e. …

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