Diagnostic Biomarkers for Autism Spectrum Disorder
Diagnostic Biomarkers for Autism Spectrum Disorder
Early Detection of Autism Spectrum Disorder via Gastrointestinal and Genetic Biomarkers. This technology provides methods to detect autism spectrum disorders (ASD) earlier than current methods that rely on behavioral assessments and preclude diagnosis before three years of age. The authors have found elevated levels of a binding protein in the umbilical cord plasma of patients with autism spectrum disorder relative to control patients.
New York, NY, United States
Overview Comments Tagged publications (1)
Background
This technology provides methods to detect autism spectrum disorders (ASD) earlier than current methods that rely on behavioral assessments and preclude diagnosis before three years of age. The authors have found elevated levels of a binding protein in the umbilical cord plasma of patients with autism spectrum disorder relative to control patients. This protein serves as a biomarker for autism spectrum disorder which is detectable at birth. The authors have also identified genetic polymorphisms in the CYP3A family which are associated with ASD, and have the potential to serve as biomarkers. As genetic markers, these single nucleotide polymorphisms could potentially allow in utero diagnosis. Further, the authors have discovered differences in gastrointestinal function of children with ASD. Children with the disorder were found to have deficiencies in both disaccharidases and hexose transporters, and were found to have altered ratios of bacterial flora in the GI tract. These discoveries provide clinicians with new methods of diagnosis of a disorder which has rapidly increased in prevalence in recent years.

Early Detection of Autism Spectrum Disorder and Initiation of Therapy Leads to Vastly Improved Patient Outcomes

Samples from colon and ileum of children with ASD were shown to have decreased levels of mRNA for the CYP3A family of proteins compared to controls. The decreased levels of mRNA were specific to CYP3A types 5 and 7. Single nucleotide polymorphisms (SNPs) in the CYP3A gene were found to be consistently present in samples from children with ASD. These SNPs have potential as biomarkers to assess the risk of development of ASD, or diagnose it. A study examining umbilical cord blood from 23 children, 11 with ASD and 12 controls found an increased abundance of a binding protein in the ASD group, particularly in a specific variant of the protein. The abundance of this specific binding protein variant has the potential to serve as a biomarker for ASD. A study examining intestinal material from children with autism revealed decreased mRNA expression for hexose transporters and altered intestinal flora when compared to controls. The authors also demonstrated the use of PCR to detect members of the genus Sutterella in intestinal samples of children with ASD.

Applications:
– Diagnosis of autism spectrum disorder
– Prenatal genetic risk assessment for likelihood of development of ASD
– Potential for determination of autism ‘carrier’ status in parents

Advantages:
– Allows earlier detection and therefore earlier initiation of therapy in diagnosed cases
– Early initiation of current therapies is associated with improved outcomes
– Earlier relief of parental anxiety 

Related Publications:
B.L. Williams, M. Hornig, T. Parekh, W. Ian Lipkin. Application of Novel PCR-Based Methods for Detection, Quantitation, and Phylogenetic Characterization of Sutterella Species in Intestinal Biopsy Samples from Children with Autism and Gastrointestinal Disturbances. mBio. Vol. 3, Issue 1, Jan. 2012.

B.L. Williams, M. Hornig, T. Buie, M.L. Bauman, M.C. Paik, I. Wick, A. Bennett, O. Jabado, D.L. Hirschberg, W. Ian Lipkin. Impaired Carbohydrate Digestion and Transport and Mucosal Dysbiosis in the Intestines of Children with Autism and Gastrointestinal Disturbances. PLoS One. Vol. 6, Issue 9, Sept. 2011.

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