Objective: To determine whether entry into the canonical stage, canonical babbling ratios (CBR) and the level of volubility (vocal measures) are delayed in infants with Tuberous Sclerosis Complex (TSC), we completed human coding of their vocalizations at 12 months and compared the results to typically developing infants with no clinical features (TD/NCF).
Methods: We randomly selected videos from 40 infants with TSC from the TACERN database. All 78 videos were coded in real-time in AACT (Action Analysis, Coding and Training).
Results: Entry into the canonical stage was delayed in the great majority of the infants with TSC. The CBR for the TD/NCF infants was significantly higher than for the infants with TSC (TD/NCF mean = .346, SE = .19; TSC mean = .117, SE = .023). Volubility level in infants with TSC was less than half that of TD/NCF infants (TD/NCF mean = 9.82, SE = 5.78; TSC mean = 3.99, SE = 2.16). CBR and volubility were also lower in TSC infants than in TD/NCF infants recorded all-day at home.
Conclusions: Entry into the canonical stage was delayed, while canonical babbling ratios and volubility were low in infants with TSC. Assessing prediction of neurodevelopmental outcome using these vocal measures in combination with non-vocal measures will be the focus of planned studies in this high-risk population.
Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors and seizures. TSC can manifests in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.
Early Vocal Development in Tuberous Sclerosis Complex
