Considerable evidence is emerging that Autism Spectrum Disorder (ASD) is most often triggered by a range of different genetic variants that interact with environmental factors such as exposures to toxicants and changes to the food supply. Up to 80% of genetic variations that contribute to ASD found to date are neither extremely rare nor classified as pathogenic. Rather, they are less common single nucleotide polymorphisms (SNPs), found in 1–15% or more of the population, that by themselves are not disease-causing. These genomic variants contribute to ASD by interacting with each other, along with nutritional and environmental factors. Examples of pathways affected or triggered include those related to brain inflammation, mitochondrial dysfunction, neuronal connectivity, synapse formation, impaired detoxification, methylation, and neurotransmitter-related effects. This article presents information on four case study patients that are part of a larger ongoing pilot study. A genomic clinical decision support (CDS) tool that specifically focuses on variants and pathways that have been associated with neurodevelopmental disorders was used in this pilot study to help develop a targeted, personalized prevention and intervention strategy for each child. In addition to an individual’s genetic makeup, each patient’s personal history, diet, and environmental factors were considered. The CDS tool also looked at genomic SNPs associated with secondary comorbid ASD conditions including attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, and pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections/pediatric acute-onset neuropsychiatric syndrome (PANDAS/PANS). The interpreted genomics tool helped the treating clinician identify and develop personalized, genomically targeted treatment plans. Utilization of this treatment approach was associated with significant improvements in socialization and verbal skills, academic milestones and intelligence quotient (IQ), and overall increased ability to function in these children, as measured by autism treatment evaluation checklist (ATEC) scores and parent interviews.


  • Autism spectrum disorders (ASDs) are a group of neurodevelopmental syndromes characterized by deficits in social interaction and communication, as well as repetitive behaviors and restricted interests

  • Deletions and variations within the SHANK3 pathway have been associated with ASD [6], and this particular single nucleotide polymorphisms (SNPs) has been associated with an odds ratio (OR) of 5.5 for ASD and an OR of 12.6 for pervasive developmental disorder [7]

  • In addition to the aforementioned pathways and SNPs, it was discovered that the patient had glutamate receptor SNPs as well as two copies of an alcohol dehydrogenase 5 (ADH5) SNP that has been associated with ASD (OR = 1.54) [38]

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Autism spectrum disorders (ASDs) are a group of neurodevelopmental syndromes characterized by deficits in social interaction and communication, as well as repetitive behaviors and restricted interests. Considerable evidence is emerging that ASD is triggered by the interaction between a variety of single nucleotide polymorphisms (SNPs) and environmental factors such as toxicant exposures, changes to food supplies, and the gut microbiome [3]. In a 2020 study, only 19.7% of individuals with ASD were found to have rare pathogenic variants or copy number variants contributing to or causal of their ASD diagnosis [4].


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