TY - JOUR
T1 - Early development and epilepsy in tuberous sclerosis complex
T2 - A prospective longitudinal study
AU - Lindsay, Natasha
AU - Runicles, Abigail
AU - Johnson, Mark H.
AU - Jones, Emily J.H.
AU - Bolton, Patrick F.
AU - Charman, Tony
AU - Tye, Charlotte
N1 - Funding Information:
This work was funded by the Tuberous Sclerosis Association and represents independent research part funded by the NIHR Maudsley Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London. The views expressed are those of the authors and not necessarily those of the NHS, the National Institute for Health and Care Research, or the Department of Health and Social Care. This work was also supported by the EU AIMS and AIMS2TRIALS programmes funded by the Innovative Medicines Initiative (IMI) Joint Undertaking (Grant Numbers 115300 and 777394). This Joint Undertaking receives support from the European Unions Horizon 2020 research and innovation programme with in kind contribution from the European Federation of Pharmaceutical Industries and Associations (EFPIA) companies and funding from Autism Speaks, Autistica and Simons Foundation Autism Research Initiative. Any views expressed are those of the authors and are not necessarily those of the funders.
Funding Information:
TC has served as a paid consultant to F.Hoffmann‐La Roche Ltd. and Servier; and has received royalties from Sage Publications and Guilford Publications. MHJ, EJHJ and TC received funding from the UK Medical Research Council (grants MRC/K021389/1 and PGMR/T003057/1). The other authors have no relevant conflicts to disclose.
Publisher Copyright:
© 2023 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.
PY - 2023
Y1 - 2023
N2 - Aim: To characterize early changes in developmental ability, language, and adaptive behaviour in infants diagnosed with tuberous sclerosis complex (TSC), and determine whether clinical features of epilepsy influence this pathway. Method: Prospective, longitudinal data were collected within the Early Development in Tuberous Sclerosis (EDiTS) Study to track development of infants with TSC (n = 32) and typically developing infants (n = 33) between 3 and 24 months of age. Questionnaire and observational measures were used at up to seven timepoints to assess infants' adaptive behaviour, developmental ability, language, and epilepsy. Results: A significant group by age interaction effect showed that infants with TSC had lower adaptive functioning at 18 to 24 months old (intercept = 88.12, slope estimate = −0.82, p < 0.001) and lower developmental ability scores from 10 months old (intercept = 83.33, slope estimate = −1.44, p < 0.001) compared to typically developing infants. Early epilepsy severity was a significant predictor of these emerging developmental (R2 = 0.35, p = 0.004, 95% confidence interval [CI] –0.08 to −0.01) and adaptive behaviour delays (R2 = 0.34, p = 0.004, 95% CI –0.05 to −0.01]). Lower vocabulary production (intercept = −1.25, slope = −0.12, p < 0.001) and comprehension scores (intercept = 2.39, slope estimate = −0.05, p < 0.001) in infants with TSC at 24 months old were not associated with epilepsy severity. Interpretation: Divergence of developmental ability and adaptive functioning skills occur in infants with TSC from 10 and 18 months, respectively. Associations between early epilepsy severity and impaired development supports the importance of early intervention to reduce seizure severity.
AB - Aim: To characterize early changes in developmental ability, language, and adaptive behaviour in infants diagnosed with tuberous sclerosis complex (TSC), and determine whether clinical features of epilepsy influence this pathway. Method: Prospective, longitudinal data were collected within the Early Development in Tuberous Sclerosis (EDiTS) Study to track development of infants with TSC (n = 32) and typically developing infants (n = 33) between 3 and 24 months of age. Questionnaire and observational measures were used at up to seven timepoints to assess infants' adaptive behaviour, developmental ability, language, and epilepsy. Results: A significant group by age interaction effect showed that infants with TSC had lower adaptive functioning at 18 to 24 months old (intercept = 88.12, slope estimate = −0.82, p < 0.001) and lower developmental ability scores from 10 months old (intercept = 83.33, slope estimate = −1.44, p < 0.001) compared to typically developing infants. Early epilepsy severity was a significant predictor of these emerging developmental (R2 = 0.35, p = 0.004, 95% confidence interval [CI] –0.08 to −0.01) and adaptive behaviour delays (R2 = 0.34, p = 0.004, 95% CI –0.05 to −0.01]). Lower vocabulary production (intercept = −1.25, slope = −0.12, p < 0.001) and comprehension scores (intercept = 2.39, slope estimate = −0.05, p < 0.001) in infants with TSC at 24 months old were not associated with epilepsy severity. Interpretation: Divergence of developmental ability and adaptive functioning skills occur in infants with TSC from 10 and 18 months, respectively. Associations between early epilepsy severity and impaired development supports the importance of early intervention to reduce seizure severity.
UR - http://www.scopus.com/inward/record.url?scp=85174909389&partnerID=8YFLogxK
U2 - 10.1111/dmcn.15765
DO - 10.1111/dmcn.15765
M3 - Article
AN - SCOPUS:85174909389
SN - 0012-1622
JO - Developmental Medicine and Child Neurology
JF - Developmental Medicine and Child Neurology
ER -