Screening for Neurodevelopmental and Behavioral Concerns in Infants and Toddlers with Tuberous Sclerosis Complex (TSC)

Abstract:

Tuberous Sclerosis Complex (TSC) is a multi-system autosomal dominant genetic disorder characterized by mutations to the TSC1 and TSC2 genes. Those with TSC are affected by a range of behavioural, psychiatric, intellectual, academic, neurophysiological, and psychosocial difficulties. Up to 60% of children with TSC will be diagnosed with Autism Spectrum Disorder (ASD), and up to 90% will experience Global Developmental Delay. Due to a significant treatment gap for those affected a TSC-Associated Neuropsychiatric Disorders (TAND), the TAND Checklist was developed to screen individuals with TSC for neuropsychiatric disorders and provide a tool which describes and evaluates the different levels of TAND. While the TAND checklist has been used in many studies for children and adults, there are limited data on TAND in infants and toddlers with TSC. Within the context of an early intervention trial in infants with TSC called JASPER Early Intervention for TSC (JETS), we evaluated neurodevelopmental and neuropsychiatric symptoms using the TAND checklist, focusing on infants ages 12-42 months. TAND checklist responses were collected from the parents of 39 infants and toddlers aged 13 – 41 months (m = 23.4 months), that were recruited at the UCLA Center for Autism Research and Treatment or the Boston Children’s Hospital Laboratories of Cognitive Neuroscience. Participants included 21 females and 18 males, with 26 participants in between 12-24 months, and 13 participants 25 months or older. Responses to the TAND-Checklist were populated into an Excel spreadsheet to allow for analysis. Response options were primarily ‘Yes’ or ‘No’ and open-ended questions. Across all surveys a running count was performed for each item, and absolute counts and frequencies were used for qualitative variables. We concluded that the TAND Checklist can be a useful screening tool for infants and toddlers with TSC by assessing and reporting TAND-related concerns, with the nature of the concerns evolving with age.