Publications by authors named "Karen Jaqueline Low"
Article Synopsis
- - The study focuses on KBG syndrome (KBGS), a rare neurodevelopmental disorder caused by mutations in the ANKRD11 gene, exploring its clinical features in adults, which are less documented compared to children.
- - Researchers collected data on 36 adults with confirmed KBGS from various families and found symptoms such as mild intellectual disabilities, motor difficulties, psychiatric issues, and other health concerns like seizures and vision problems.
- - The findings reveal a diverse range of adult experiences and abilities related to education and employment, contributing to the understanding of long-term outcomes for individuals with KBGS.
Article Synopsis
- The study aims to understand growth patterns, developmental profiles, and medical outcomes for children in the UK born with neurodevelopmental genetic syndromes, addressing gaps in existing clinical knowledge.
- It involves a multicenter cohort study running from 2023 to 2026, recruiting children aged 6 months to 16 years with specific genetic variants, using questionnaires and clinical assessments to gather data.
- Results will be shared at conferences and submitted for publication, contributing valuable insights for clinicians regarding monitoring and treatment of affected children.
