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The Neurodevelopment of the Posterior Superior Temporal Sulcus As an Neuroendophenotype in Autism
In functional and morphological studies among people with Autism Spectrum Disorder (ASD) and their families (Boddaert et al. 2004; Baron-Cohen et al., 2006, Spencer et al., 2011), one region of the social brain has been constantly disturbed: the posterior part of the Superior Temporal Sulcus (pSTS). Following the definition of the endophenotype (Gottesman & Good, 2003), the pSTS should be a potential neuroendophenotype in autism.
Cortical folding patterns of the pSTS and its three caudal branches (the anterior caudal branch (cSTS1), the intermediate caudal branch (cSTS2) and the posterior caudal branch (cSTS3)) (Segal & Petrides, 2012) have been solely investigated in ASD. Two studies only have demonstrated a longer cSTS1, specifically in the right hemisphere among children and adults with ASD (Levitt et al., 2003; Hotier et al., 2017). In our best knowledge, no study has established that neurodevelopmental abnormalities in pSTS exist among unaffected relatives of individuals with ASD
Objectives:
To compare the length of the three branches of the pSTS between three groups; one with ASD, one with their direct and unaffected relatives, and one healthy control group.
Methods: We included 20 individuals with ASD, 70 of their direct unaffected relatives and 31 controls with no family history of autism [respectively: Mean Total Intellectual Quotient(sd) = 98(19); 115(14); 115(11) (p<0.0004) - Mean age (sd)= 18 (11); 34(16); 29(13); (p<7.73 x10-5)- Males/ Females % = 58/42; 44/56; 36/64; (p<0.22)]. Using the toolbox Morphologist in Brainvisa software, on structural MRI, we manually labeled the branches of the pSTS and extracted their length.
Mixed linear models were used with length of each branch of the pSTS in each hemisphere as dependent variable, group as independent variable and age, sex, Total IQ as control variables. Results: Only a specific effect of the group on the length of the right cSTS1 was present. The cSTS1 was significantly longer in unaffected relatives (52.1 mm) compared with healthy controls (43.3 mm) (p=0.004) and patients with autism (44.1 mm) (0.04). The length of right cSTS1 in the probands with autism did not significantly differ from healthy controls (p=0.8). No effect of the group, age or sex was present on the length of other branches of the STS, in the right or left hemisphere (p<0.05). Conclusions: We show that specific morphological abnormalities in a key region of the social brain are also present among unaffected relatives with autism. The morphology of the pSTS could be a candidate neuroendophenotype for autism.