Sumekar, Tanjung Ayu and Winarni, Tri Indah (2012) CORRELATION BETWEEN IQ, AUTISM SPECTRUM DISORDERS, AND FMRP LEVELS IN MALES WITH THE FMR1 PREMUTATION. Masters thesis, Universitas Diponegoro.

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Abstract

Introduction: Clinical manifestation of autism spectrum disorders (ASD) and cognitive deficits have been reported to be associated with fragile X premutation. These may be related to variations in CGG repeat lengths, FMR1 protein (FMRP) levels, background genetics effects and/or environmental toxins. FMRP is an RNA-binding protein that regulates the translation of a number of other genes that are important for synaptic developments and plasticity. Objective: This study was done to identify the correlation between cognitive, social deficits, FMRP levels and CGG repeats in males with the FMR1 premutation utilizing the new enzyme-linked immuno assay (ELISA) assessment of FMRP expression. Methods: This study included 31 males with the FMR1 premutation ranging from age 2.96 to 27.36 (mean 13.7 ± SD 6.32) years old participated in Fragile X Families research project at the UC Davis M.I.N.D. Institute between 2006 and 2011. All subjects were confirmed to carry the FMR1 premutation. They undergone a full medical history and physical examination. Assesment of cognitive ability and specific measures for ASD were completed. ELISA technique was used to measure the level of FMRP. Results: FMRP levels were measured from the lymphocytes with mean level was 1.5 ± 0.55 with mean level of CGG repeats was 101.5 ± 41.10. FMRP levels were not correlated with ADOS communication score (p=0.420), ADOS social interaction score (p=0.641), ADOS total score (p=0.517), nor FSIQ (p=0.125). CGG repeats were also not correlated with ADOS communication score (p=0.454). ADOS social interaction score (p=0.731). ADOS total score (p=0.660), nor FSIQ (p=0.571). Conclusion: There were no correlation between FMRP levels, ADOS scores, and FSIQ nor CGG repeats, ADOS scores, and FSIQ in males with the FMR1 premutation.
Key words : IQ, ASD, FMRP, FMR1 premutation

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