Early autism symptoms in infants with tuberous sclerosis complex.
Nicole M McDonald, Kandice J Varcin, Rujuta Bhatt and 4 others
PMID 28801991WHAT IT FOUND
Infants with tuberous sclerosis who later developed autism showed more atypical social communication behavior at 9 and 12 months than infants with tuberous sclerosis without autism and low-risk controls.
The difference remained after controlling for cognitive scores.
Key findings
01At 9 months, infants with TSC who later developed autism had significantly higher AOSI scores than infants with TSC without autism and low-risk controls, after controlling for cognitive scores.
02At 12 months, infants with TSC who later developed autism again had significantly higher AOSI scores than infants with TSC without autism and low-risk controls, after controlling for cognitive scores.
03At both ages, infants with TSC who later developed autism showed higher scores on social referencing, engagement of attention, eye contact, social interest and shared affect, and motor control and behavior; social referencing had the largest effect size at 9 months and the second largest at 12 months.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The sample was small, especially at 9 months: only 27 infants were included in the 9-month analyses, including 6 infants with TSC who later developed autism. The authors describe the study as preliminary and call for replication in a larger sample. Outcome classifications were determined before 36 months for 34% of the sample, and the authors note reduced diagnostic stability before 3 years. Because the sample was small, the authors could not determine which AOSI items were specific to autism beyond group differences in cognitive ability. The sample was predominantly Caucasian and had mothers with high levels of education, and race/ethnicity differed by group. The authors note that deficits were already clear at 9 months, so differences may begin earlier.
The easy way to misread this
Do not conclude that all infants with tuberous sclerosis have early autism symptoms. The elevated AOSI scores were found in infants who later developed autism; infants with tuberous sclerosis who did not develop autism did not differ from low-risk controls at 9 or 12 months.