30699
Clinical & Genetic Subtypes of Sensory Processing Sensitivities in Autism
Sensory processing sensitivities are critical cornerstone for characterising and understanding Autism Spectrum Disorder (ASD). These prevalent symptoms correlate with symptoms severity and cognitive impairments, suggesting shared biological mechanisms. Understanding these mechanisms may shed light not only on sensory processing deficits but also on ASD.
Objectives:
This study characterises extreme cases of high and low sensory sensitivity among subjects and investigate their correlation with mutations in pathways related to ASD.
Methods:
The analysis was done on 420 subjects of the C0733 cohort including 165 with ASD, 210 first-degree relatives & 97 controls. Low- and high-sensitive participants were selected based on the Short Sensory Profile [SSP; Dunn, 1999]. We used GRAVITY (http://gravity.pasteur.fr) for the analysis of all exonic variants.
Results:
Preliminary analysis showed a normal distribution of scores in all groups but with statistically significant differences in variance. The exploration of the GABA and GLUT pathways suggests that likely gene disruptive mutations in GABA have stronger impact on Perceptual Sensibility than GLUT. For Missense mutations, there was no difference between groups.
Conclusions:
These results show how hypo/hyper-sensitivity in ASD may be caused by the higher clinical heterogeneity, with deleterious genetic mutations as one underlying cause.