Developmental Trajectories of Adaptive Functioning and Behavior Problems in Children With Co-Occurring Tuberous Sclerosis Complex and Autism Spectrum Disorder, With and Without Seizures.

Background: Tuberous sclerosis complex (TSC) is associated with higher risk of adaptive problems, behavior/emotional problems, and autism spectrum disorder (ASD). This study evaluated the adaptive and behavioral developmental trajectories of children with TSC with and without a diagnosis of ASD at 36 months.

Methods: The Tuberous Sclerosis Complex Autism Center of Excellence Research Network study longitudinally assessed infants with TSC. Developmental (Mullen Scales of Early Learning), adaptive (Vineland Adaptive Behavior Scales, 2nd Edition, Survey Interview), and behavior/emotional (Child Behavior Checklist) functioning at 18, 24, and 36 months were examined in relationship to an ASD clinical diagnosis at 36 months.

Results: Deficits in all adaptive functioning domains were observed starting at age 18 months among those ultimately diagnosed with ASD but were largely explained after adjustment for developmental functioning except for lower social functioning at 36 months among individuals with ASD. Behavior/emotional problems did not consistently differ at 18 or 24 months, but nearly all emotional/behavioral problem domains were more severe in the children with ASD, relative to their peers without ASD at 36 months, even after adjusting for developmental functioning. These findings were not attributable to seizure burden.

Conclusions: Although children with TSC and ASD did not differ in their adaptive functioning compared with children with TSC without ASD before 36 months, by 36 months, their social adjustment and emotional/behavioral functioning was significantly poorer than their peers without ASD, underscoring the importance of early detection of developmental concerns and targeted treatments.