IADR Abstract Archives
SCN9A Genetic Polymorphisms and Dental Pain Sensitivity in Autistic Children
Objectives: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is diagnosed in 1 out of 68 children in the United States. Mutations in sodium channel gene, SCN9A, cause a variety of genetic pain disorders. In this pilot study, we tested the hypothesis that children with ASD may contain mutations in the SCN9A gene, and that the severity of dental pain may be associated with specific SCN9A single nucleotide polymorphisms (SNPs).
Methods: Swab specimens were collected from children with medical diagnosis of ASD (N=10) and from typically-developing individuals (N=9) (ages 6-14). Genomic DNA was extracted and subjected to TaqMan - SNP identification. Eight SCN9A SNPs were tested, six associated with hypersensitivity to pain and two with insensitivity to pain. Standardized questionnaires were provided to primary caregivers - linking pain due to major and minor injury, as well as dental pain, with demonstrated behaviors in children.
Results: The rare A allele in SNP rs6746030 – associated with increased general pain – was identified in two out of ten children with ASD, and none within the typically-developing control group. These two individuals were found to demonstrate behaviors indicative of pronounced pain following major and minor injury, but when queried for dental pain, demonstrated little behavior indicative of any pain. For the remaining SNPs tested, there were no differences in allelic frequencies exhibited between the ASD and control groups.
Conclusions: This pilot study is significant due to its potential in identifying genetic risk factors for dental pain sensitivity in children with ASD, and indicates that there may be other factors than the SCN9A gene that dictate sensitivity to dental pain. With new genetic information, atypical dental pain sensitivity may be assessed at the point-of-care, allowing dentists to formulate personalized treatment and improving oral health care for patients with ASD. Supported by OHSU Foundation Award (CM).
Methods: Swab specimens were collected from children with medical diagnosis of ASD (N=10) and from typically-developing individuals (N=9) (ages 6-14). Genomic DNA was extracted and subjected to TaqMan - SNP identification. Eight SCN9A SNPs were tested, six associated with hypersensitivity to pain and two with insensitivity to pain. Standardized questionnaires were provided to primary caregivers - linking pain due to major and minor injury, as well as dental pain, with demonstrated behaviors in children.
Results: The rare A allele in SNP rs6746030 – associated with increased general pain – was identified in two out of ten children with ASD, and none within the typically-developing control group. These two individuals were found to demonstrate behaviors indicative of pronounced pain following major and minor injury, but when queried for dental pain, demonstrated little behavior indicative of any pain. For the remaining SNPs tested, there were no differences in allelic frequencies exhibited between the ASD and control groups.
Conclusions: This pilot study is significant due to its potential in identifying genetic risk factors for dental pain sensitivity in children with ASD, and indicates that there may be other factors than the SCN9A gene that dictate sensitivity to dental pain. With new genetic information, atypical dental pain sensitivity may be assessed at the point-of-care, allowing dentists to formulate personalized treatment and improving oral health care for patients with ASD. Supported by OHSU Foundation Award (CM).