TY - JOUR
T1 - Correction
T2 - Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
AU - Kaspi, Antony
AU - Hildebrand, Michael S.
AU - Jackson, Victoria E.
AU - Braden, Ruth
AU - van Reyk, Olivia
AU - Howell, Tegan
AU - Debono, Simone
AU - Lauretta, Mariana
AU - Morison, Lottie
AU - Coleman, Matthew J.
AU - Webster, Richard
AU - Coman, David
AU - Goel, Himanshu
AU - Wallis, Mathew
AU - Dabscheck, Gabriel
AU - Downie, Lilian
AU - Baker, Emma K.
AU - Parry-Fielder, Bronwyn
AU - Ballard, Kirrie
AU - Harrold, Eva
AU - Ziegenfusz, Shaun
AU - Bennett, Mark F.
AU - Robertson, Erandee
AU - Wang, Longfei
AU - Boys, Amber
AU - Fisher, Simon E.
AU - Amor, David J.
AU - Scheffer, Ingrid E.
AU - Bahlo, Melanie
AU - Morgan, Angela T.
PY - 2023/4
Y1 - 2023/4
N2 - Wording was altered for the discussion. 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]. See attached files for table and figure changes.
AB - Wording was altered for the discussion. 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]. See attached files for table and figure changes.
KW - Childhood apraxia of speech
KW - genetic aetiologies
KW - genetic factors
KW - childhood speech disorders
UR - http://www.scopus.com/inward/record.url?scp=85146535612&partnerID=8YFLogxK
U2 - 10.1038/s41380-022-01879-y
DO - 10.1038/s41380-022-01879-y
M3 - Comment/debate
C2 - 36658335
AN - SCOPUS:85146535612
SN - 1359-4184
VL - 28
SP - 1664
EP - 1666
JO - MOLECULAR PSYCHIATRY
JF - MOLECULAR PSYCHIATRY
IS - 4
ER -