2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Deep phenotyping of Kabuki syndrome to create meaningful and specific biomarkers and outcome measures for clinical trials

Pdf Summary

Kabuki syndrome (KS) is a genetic disorder characterized by distinctive facial features, skeletal anomalies, and intellectual disability. This study aimed to assess the neurodevelopmental and neurobehavioral profiles of individuals with KS in order to design outcome measures for targeted treatment and clinical care. Behavior, sleep, and adaptive function assessments were completed by individuals with KS and their unaffected siblings. <br /><br />The results showed that anxiety is prominent in individuals with KS, which may be linked to decreased neurogenesis. Therefore, improved anxiety could serve as a proxy for increased neurogenesis in clinical trials. Sleep dysfunction was also common in individuals with KS, as well as ADHD in children. Improved anxiety, improved sleep, and decreased ADHD symptoms were identified as outcome measures specific to KS in future trials.<br /><br />Furthermore, the study found that 71% of individuals with KS show signs of sleep dysfunction, with higher dysfunction scores correlating with higher behavior problem scores. Additionally, 22.2% of children and 60% of adults with KS had clinically significant anxiety. Attention problems were the only clinically significant issue identified on behavioral assessments, with nearly 50% of children with KS scoring clinically significant.<br /><br />Overall, children with KS exhibited significantly higher anxiety and behavioral scores compared to their unaffected siblings. These findings provide insights into the neurobehavioral aspects of KS and suggest potential biomarkers and outcome measures for clinical trials. By understanding the specific profiles of KS, researchers can develop targeted treatments and improve clinical care for individuals with this disorder.

Asset Subtitle

Presenting Author - Allison Kalinousky, BS; Co-Author - Tyler Rapp, BS; Co-Author - Jacqueline R. Harris, MD; Co-Author - Hans Bjornsson, MD PhD; Co-Author - Jennifer Johnson, MA;

Meta Tag

Cognitive Disorders

Epigenetics

Intellectual disability

Phenotype

Co-Author Tyler Rapp, BS

Co-Author Jacqueline R. Harris, MD

Co-Author Hans Bjornsson, MD PhD

Co-Author Jennifer Johnson, MA

Presenting Author Allison Kalinousky, BS

Keywords

Kabuki syndrome

genetic disorder

facial features

skeletal anomalies

intellectual disability

neurodevelopmental profiles

neurobehavioral profiles

anxiety

sleep dysfunction

ADHD symptoms