Characteristic Behavioral Phenotype of Congenital Anomaly Syndrome―understanding of genetics and behavior―

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  • Mizuno Seiji
    Dept. of Pediatrics, Central Hospital, Aichi Human Service Center

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  • 先天異常症候群に見られる行動発達の特徴―遺伝と行動とその理解―

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Abstract

<p>Like hair and eye color or ethnic differences in average height, which are genetically determined characteristics, human behavior has shown to be affected by the genetic background. In the field of genetics, human behavior is included within the phenotype study. Since a congenital anomaly syndrome is naturally caused by a genetic variant, the study of the patients' clinical manifestations sheds light on the genotype-phenotype correlation. Some syndromes cause distinct characteristic behavior such as self-biting in patients with Lesch-Nyhan syndrome or sudden laughter in patients with Angelman syndrome. Behavioral problems observed in Williams and Prader-Willi syndromes may provide characteristic detection of patients with those syndromes, which is now under study. Likewise, the innate behavioral characteristics of non-specific intellectual disabilities and autism spectrum disorders may be caused by specific genes. Understanding the genetic basis of the affected individual's behavior facilitates the administration of appropriate personalized treatment, rehabilitation, and education to those who need special support.</p>

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