Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

作者：Antony Kaspi, Michael S. Hildebrand, Victoria E. Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie D. Morison, Matthew Coleman, Richard D. Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K. Baker, Bronwyn Parry‐Fielder, Kirrie J. Ballard, Eva Harrold, Shaun Ziegenfusz, Mark F. Bennett, Erandee Robertson, Longfei Wang, Amber Boys, Simon E. Fisher, David J. Amor, Ingrid E. Scheffer, Melanie Bahlo, Angela Morgan · 发表于：Molecular Psychiatry · 年份：2023 · DOI：10.1038/s41380-022-01879-y · 被引用次数：30 · 研究领域：Language Development and Disorders

Only two probands (11%) with genetic diagnoses ( SETD1B (ID10), ERF (ID18)) had CAS without co-occurring neurodevelopmental disorder diagnoses. One was aged 10;8 years, had average IQ and was attending a school for children with specific speech and language impairment. The other child was only 4;7 years and had not yet had IQ testing because no concerns had been raised by his treating physician, family or preschool teacher regarding his general learning ability; however, it is possible that other neurodevelopmental diagnoses could still be made into the future. These findings expand the spectrum of phenotypes associated with these conditions. SETD1B has been previously associated with epilepsy, intellectual disability and language delay, and ERF-related craniosynostosis syndrome often includes speech and language delay, learning difficulties or behavioural problems; however variable expressivity and incomplete penetrance have previously been observed [40].