A comparison of two studies and the prevalence and sex ratio of Neurodevelopmental conditions in Tuberous Sclerosis Complex

TY - JOUR

T1 - A comparison of two studies and the prevalence and sex ratio of Neurodevelopmental conditions in Tuberous Sclerosis Complex

AU - Runicles, Abigail K.

AU - Tye, Charlotte

AU - Bolton, Patrick F.

N1 - Funding Information: The TS 2000 Study was supported by grants awarded to Patrick Bolton from the Baily Thomas Charitable Trust, Action Medical Research, UK Tuberous Sclerosis Association and Autism Speaks. Copyright: Copyright 2021 Elsevier B.V., All rights reserved.

PY - 2021/12

Y1 - 2021/12

N2 - Various forms of psychopathology have been associated with Tuberous sclerosis complex (TSC) including autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD) and intellectual disability (ID) [1, 2], but prevalence estimates have varied widely in studies. The TOSCA (TuberOus SClerosis registry to increase disease Awareness) international disease registry study first described rates of TSC Associated Neuropsychiatric Disorders (TAND) in a large sample size of 2216 participants in 2018 [3]. More recently the TOSCA team [3] have reported further results on TAND data from the TOSCA study [4]. They report prevalence rates, as well as sex (male preponderance of ASD and ADHD) and age differences (higher rates of ADHD in children) in the prevalence of ASD and ADHD. The authors acknowledge various methodological limitations (ascertainment bias, reliance on clinical diagnosis rather than systematic standardised evaluation and very high (60%) rates of missing data), but they suggest that these methodological limitations are partly offset by the large-scale “real world” nature of their study. In our view, the nature and extent of the methodological limitations in the study may not be fully appreciated by readers. We highlight the potential impact of these methodological shortcomings by contrasting the TOSCA TAND results with findings from a high quality, methodologically rigorous prospective longitudinal study of a general population representative sample of individuals with TSC—the Tuberous Sclerosis 2000 (TS 2000) study (1,3,4,6,8, 12–14). In the first phase of the TS 2000 study, 125 children with TSC (63 females, 62 males; median age = 39mo) were recruited. In the second phase of the study, at an average of 8 years later, neurodevelopmental outcomes were assessed with 88 participants (median age = 148 mo) (1,3,4,6,8, 12–14).First, we discuss significant methodological considerations for s

AB - Various forms of psychopathology have been associated with Tuberous sclerosis complex (TSC) including autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD) and intellectual disability (ID) [1, 2], but prevalence estimates have varied widely in studies. The TOSCA (TuberOus SClerosis registry to increase disease Awareness) international disease registry study first described rates of TSC Associated Neuropsychiatric Disorders (TAND) in a large sample size of 2216 participants in 2018 [3]. More recently the TOSCA team [3] have reported further results on TAND data from the TOSCA study [4]. They report prevalence rates, as well as sex (male preponderance of ASD and ADHD) and age differences (higher rates of ADHD in children) in the prevalence of ASD and ADHD. The authors acknowledge various methodological limitations (ascertainment bias, reliance on clinical diagnosis rather than systematic standardised evaluation and very high (60%) rates of missing data), but they suggest that these methodological limitations are partly offset by the large-scale “real world” nature of their study. In our view, the nature and extent of the methodological limitations in the study may not be fully appreciated by readers. We highlight the potential impact of these methodological shortcomings by contrasting the TOSCA TAND results with findings from a high quality, methodologically rigorous prospective longitudinal study of a general population representative sample of individuals with TSC—the Tuberous Sclerosis 2000 (TS 2000) study (1,3,4,6,8, 12–14). In the first phase of the TS 2000 study, 125 children with TSC (63 females, 62 males; median age = 39mo) were recruited. In the second phase of the study, at an average of 8 years later, neurodevelopmental outcomes were assessed with 88 participants (median age = 148 mo) (1,3,4,6,8, 12–14).First, we discuss significant methodological considerations for s

UR - http://www.scopus.com/inward/record.url?scp=85112736189&partnerID=8YFLogxK

U2 - 10.1186/s13023-021-01984-1

DO - 10.1186/s13023-021-01984-1

M3 - Letter

AN - SCOPUS:85112736189

SN - 1750-1172

VL - 16

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

IS - 1

M1 - 366

ER -