Screening for Metabolic Problems in Mothers of Children With Autism and Typically Developing Children

Screening for Metabolic Problems in Mothers of Children With Autism and Typically Developing Children

The purpose of this research study is to screen for metabolic abnormalities that are maternal risk factors for having a child with autism.

The study will involve recruitment of 30 mothers of young children with ASD (ages 3-5 years) and 30 mothers of non-ASD children of similar age, respectively labelled ASD-moms and non-ASD-moms. In Phase 1, the levels of certain folate-related and oxidative stress biomarkers (folate, vitamin B12, vitamin E, homocysteine, methylmalonic acid, urinary isoprostanes) and MTHFR mutation analysis will be measured in all the mothers. The investigators expect that approximately 40-50% of the ASD-mothers and approximately 5-10% of the non-ASD-mothers will have abnormal homocysteine levels. In Phase 2, for those mothers with abnormal homocysteine levels, the investigators will treat them with a standard prenatal supplement for 4 weeks, and re-measure their biomarkers. The investigators expect 75-100% of the non-ASD mothers to respond, but only 25-50% of the ASD-mothers to respond. In Phase 3, for those mothers who did not respond to the standard prenatal supplement, the investigators will treat them with an optimized prenatal supplement for 4 weeks and remeasure their biomarkers. The investigators expect that 75-100% of the mothers of both groups will respond to this improved prenatal supplement.

Initial treatment with standard prenatal supplement in mothers with abnormal homocysteine levels; additional treatment with optimized prenatal supplement in mothers not responding adequately to initial treatment.

Initial treatment with standard prenatal supplement in mothers with abnormal homocysteine levels; additional treatment with optimized prenatal supplement in mothers not responding adequately to initial treatment.

Treatment with a standard and optimized prenatal supplement, dependent on laboratory evaluations of participants.

Serial homocysteine level determination to assess response to supplementation with standard and optimized prenatal supplement in mothers exhibiting abnormal baseline homocysteine levels

Mothers of children with autism (age 3-5) or typically-developing children (age 3-5) who are not currently taking prenatal vitamins/multivitamins.

James SJ, Melnyk S, Jernigan S, Pavliv O, Trusty T, Lehman S, Seidel L, Gaylor DW, Cleves MA. A functional polymorphism in the reduced folate carrier gene and DNA hypomethylation in mothers of children with autism. Am J Med Genet B Neuropsychiatr Genet. 2010 Sep;153B(6):1209-20. doi: 10.1002/ajmg.b.31094.

James SJ, Melnyk S, Jernigan S, Hubanks A, Rose S, Gaylor DW. Abnormal Transmethylation/transsulfuration Metabolism and DNA Hypomethylation Among Parents of Children with Autism. J Autism Dev Disord. 2008 Nov;38(10):1976. doi: 10.1007/s10803-008-0614-2. No abstract available.