Genetic variation in serotonin transporter modulates tactile hyperresponsiveness in ASD. (February 2015)

• Record Type: Journal Article
• Authors: Schauder, Kimberly B.; Muller, Christopher L.; Veenstra-VanderWeele, Jeremy; Cascio, Carissa J.
• Is Part Of: Research in autism spectrum disorders. Volume 10(2015:Feb.)
• Page Start: 93
• Page End: 100
• Publication Date: 2015-02
• Subjects: 5-HT serotonin -- ASD autism spectrum disorders -- SERT serotonin transporter -- SEQ Sensory Experience Questionnaire -- SP Sensory Profile -- TD typically developing -- SNP single nucleotide polymorphism -- ADOS Autism Diagnostic Observation Schedule -- ADI-R Autism Diagnostic Interview-Revised -- SCQ Social Communication Questionnaire -- WASI Weschler Abbreviated Scale of Intelligence -- KBIT-2 Kaufman Brief Intelligence Test, 2nd edition -- MSEL Mullen Scales of Early Learning -- RBS-R Repetitive Behavior Scale – Revised -- FSIQ full scale IQ; SERT -- Tactile hyperresponsiveness -- Sensory processing -- Autism spectrum disorder; Autism spectrum disorders -- Periodicals; 616.85882005
• DOI: 10.1016/j.rasd.2014.11.008
• Languages: English
• ISSNs: 1750-9467

Abstract

Highlights: Genotypic variation in SERT was associated with tactile hyperresponsiveness in ASD. Age was negatively correlated with hyporesponsive sensory behaviors. Repetitive behaviors were related to hyperresponsive sensory behaviors. Abstract: Several lines of evidence implicate dysfunction of the serotonin (5-HT) system in autism spectrum disorder (ASD). Specifically, the serotonin transporter (5-HTT, SERT) has been scrutinized as an ASD candidate risk gene. SERT plays key roles in the development of circuits that underlie sensory function, particularly in the somatosensory system. One previous study in ASD found association of a rare, hyperfunctional SERT variant with sensory aversion, but studies of common SERT variants have never examined sensory symptoms in ASD. Using standardized caregiver assessments of sensory function in children, we evaluated patterns of sensory responsiveness in 47 children with ASD and 38 typically developing (TD) children. Study participants were genotyped for the functional SERT promoter polymorphisms, 5-HTTLPR and rs25531, to test the hypothesis that the higher expressing genotypes would be associated with hyperresponsiveness to touch, a common sensory aversion in ASD. All measures of sensory hypo- and hyperresponsiveness were increased in children with ASD, with hyporesponsive sensory patterns negatively correlated to age and hyperresponsive sensory patterns positively correlated to repetitive behavior. Strikingly, high-expressing SERT genotypes were associated with increased tactile hyperresponsiveness in the ASD group. Our findings indicate genetic variation that increases SERT function may specifically impact somatosensory processing in ASD.