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

This study followed children with tuberous sclerosis (a genetic condition) from 18 to 36 months to see how those who developed autism differed from those who didn't. Children who were later diagnosed with autism showed more problems with daily living skills from 18 months onward, but most of these were related to their overall developmental delays. By 36 months, children with autism had significantly more social difficulties and behavioral problems compared to other children with tuberous sclerosis, regardless of their seizure activity.

This longitudinal study examined developmental trajectories in children with tuberous sclerosis complex (TSC), comparing those with and without autism spectrum disorder (ASD) diagnosis at 36 months. Researchers assessed 67 infants with TSC at 18, 24, and 36 months using standardized measures of development, adaptive functioning, and behavioral/emotional problems. Children ultimately diagnosed with ASD showed adaptive functioning deficits from 18 months, but these were largely explained by developmental delays except for persistent social difficulties at 36 months. Behavioral and emotional problems became significantly more severe in the ASD group by 36 months, even after accounting for developmental functioning.

Seizure burden did not explain these differences, highlighting the independent impact of ASD on functioning outcomes.

Early screening for ASD in TSC populations should begin by 18 months. Social skills interventions may be particularly beneficial. Behavioral support strategies should be implemented by 36 months for children with TSC and ASD. Clinical management should address ASD symptoms independently of seizure management.

Sample size not reported. Study limited to 36 months follow-up period. Unknown study design details limit assessment of methodology. Potential selection bias not addressed. Long-term outcomes beyond 36 months unknown.

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. 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.

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. 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.