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Asperger Syndrome: Research Activities and Scientific Advances

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Institute Activities and Advances

The NICHD supports and conducts research on a wide range of topics related to autism spectrum disorders (ASDs), including genetics, neurodevelopment, screening, and interventions.

Asperger syndrome may be a separate disorder from autism, or it may be on the mild end of the autism spectrum. Evidence from studies of language, communication, neuropsychological profiles, motor skills, epidemiological factors, and core symptoms supports both views. A small, preliminary study supported in part by the NICHD's Collaborative Programs of Excellence in Autism/Studies to Advance Autism Research and Treatment Centers used brain imaging to study children and adolescents with Asperger syndrome and high-functioning autism. The results suggest that the brain's cortex folding pattern was distinct in participants with Asperger syndrome, compared to those with high-functioning autism and healthy controls. However, the study's scientists cautioned that more evidence is needed to make definitive conclusions.1

The Intellectual and Developmental Disabilities (IDD) Branch supports extramural research projects that improve the accuracy and utility of screening and diagnostic tools for ASD, particularly for younger children and children from a variety of backgrounds. The IDD Branch supports human and animal studies employing a variety of approaches, including genetic, neuroanatomic, neurophysiologic, immunologic, neurochemical, and neuropsychologic methodologies. Areas of interest include all aspects of ASD symptomatology, including the social communication, motor, linguistic, emotional, cognitive, and behavioral features of the disorder. The Branch's portfolio includes research on:

  • The molecular, anatomical, and functional processes and pathways associated with and causative for ASD, autism symptoms, and common comorbidities, such as Fragile X syndrome
  • Protective factors for ASD
  • The molecular, behavioral, and anatomical heterogeneity inherent in the developmental trajectories and characteristics of autism
  • Environmental risk factors and biomarkers for ASD, including gene-environment interactions
  • Development of therapies and treatments for ASDs and their symptoms and for autism-related disorders such as Fragile X syndrome.
  • Long-term effects of autism interventions. Potential treatment targets include:
    • Reducing self-injurious and other repetitive behavior
    • The development of joint attention (a life skill that involves two people sharing their attention to an object or event)
    • Increasing symbolic understanding
    • Learning language
    • Reducing irritability and anxiety
    • Acquiring practical life skills

Through its intramural Epidemiology Branch of the Division of Intramural Population Health Research, the NICHD is active in the assessment of developmental screening algorithms for ASD and other conditions. The branch also conducts research on epidemiologic methods that can be used in the study of autism and other disorders. In addition, the branch has been involved in evaluating the effects of autism therapies.

The Section on Molecular Dysmorphology in the intramural Program in Developmental Endocrinology and Genetics has an ongoing project examining whether cholesterol levels in children with autism correlate with behavior and whether cholesterol supplementation can improve the behavioral symptoms of this disorder. This project is part of the section's overall research into human and mouse syndromes caused by inborn errors of cholesterol synthesis.

The Laboratory of Clinical and Developmental Genomics has conducted research to better understand the underlying mechanisms of ASDs. These researchers attempted to identify key regulatory genes in ASDs, focusing on DNA copy number variation (CNV). CNVs identify small deletions and duplications of chromosomes. Such genetic alterations could be transmitted through inherited (paternal or maternal) or non-inherited mechanisms.

Other Activities and Advances

To achieve its goals, the NICHD supports a variety of other activities related to autism spectrum disorders (ASDs) and autism. Some of these activities are managed through the components listed earlier; others are part of NIH-wide or collaborative efforts in which the NICHD participates. Some of these are listed below:


  1. Jou, R. J., Minshew, N. J., Keshavan, M. S., & Hardan, A. Y. (2010). Cortical gyrification in autistic and Asperger disorders: A preliminary magnetic resonance imaging study. Journal of Child Neurology, 25, 1462-1467.[top]
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Last Updated Date: 11/30/2012
Last Reviewed Date: 11/30/2012
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