Japan Health Research Promotion Bureau

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Registry of information on clinical phenotypes, neuropsychological assessments, and structural brain imaging for pathophysiological elucidation of neurodevelopmental disorders

Abstract

This project aims to establish a registry for elucidating the pathophysiology of neurodevelopmental disorders. Clinical characteristics of individuals with neurodevelopmental disorders, who show abnormal perception and behavior associated with atypical brain functions, vary even among those with the same diagnosis including comorbid psychiatric disorders. We are constructing a registry of the data of clinical phenotypes, neuropsychological assessments, and brain structural imaging. Therefore, we expect this registry will inspire further studies which may elucidate the neuropsychological pathophysiology of neurodevelopmental disorders.

Registries for studies in neurodevelopmental disorders are being constructed in many countries worldwide. Many differences in genetic backgrounds and social structures exist among these countries. Genetic factors and life environment influence individuals' characteristics associated with developmental disorders. We consider all the projects important to understand developmental disorders.

In this study, we conduct psychological-behavioral assessments and structural Magnetic Resonance Imaging (sMRI). As information of a clinical phenotype, we measure peripheral symptoms such as depression and anxiety as well as the core symptoms of developmental disorders. In the neuropsychological assessments, we evaluate multiple cognitive characteristics that may be associated with symptoms and difficulties in daily living. In addition, we also collect white- and gray-matter volume, and characteristics of white matter fiber.

During this research, we expect to explain the symptomatic and clinical diversity of the developmental disorders based on objective and quantifiable measures (indices of the brain structure and/or ability of cognitive function). This may allow us to identify neuropsychological mechanisms that shape the heterogeneity of developmental disorders. In addition, it is expected to lead to the development of biomarkers for diagnostic aids and interventions based on academic evidence.

Perspectives

  • Establishing a registry for elucidating the pathophysiology of neurodevelopmental disorders

  • Contributing to explain the symptomatic and clinical diversity of the developmental disorders based on pathophysiological characteristics

Comments from principal researcher

Over the years, we have learned a great deal about developmental disabilities. However, there are several psychological pathological hypotheses, and I feel that the nature of developmental disorders still have many mysteries. We would like to contribute to clarification of the diversity of developmental disorders, by steadily collecting data to construct an effective registry and develop our research to be beneficial to individuals and society.

Shared Researchers

  • Toshinari Kurokouchi
    Kohnodai Hospital, National Center for Global Health and Medicine