Speech Intelligibility in Persian Children with Down Syndrome

Objectives: One of the most effective methods to describe speech disorders is the measurement of speech intelligibility. The speech intelligibility indicates the extent of acoustic signals that correctly speaker produces and hearer receives. The purpose of this study was to investigate the speech intelligibility in the Persian children with Down syndrome; age range was 3 to 5 years, who had spoken Persian.

Methods: This cross- sectional study investigates 12 children [6 girls and 6 boys] with Down syndrome who had referred to speech therapy clinic in Hamadan city and 12 normal children [6 girls and 6 boys] who went to the kindergarten in Hamadan city .The pictures of speech intelligibility test [in Persian language] were used to collect speech samples of participants. The participant's voice was recorded by voice recorder and was investigated in two age groups.

Results: The results of this study indicated the means of speech intelligibility was 92.25 for normal children and 35.08 for children with Down syndrome. The correlation between age and speech intelligibility for normal children was 0.866 and for children with Down syndrome was 0.352. The mean of speech intelligibility 2 for normal boys was 93 and for normal girls 91.5 and for boys with Down syndrome 34.66 and for girls with Down syndrome 35.5.

Discussion: The difference between normal children and children with Down syndrome was Significant. One of the factors that affect speech intelligibility for children with Down syndrome is difficulty with voluntarily programming, combining, organizing, and sequencing the movements necessary for speech.

Use of D11S2179 and D11S1343 markers as informative markers for prenatal diagnosis in Iranian ataxia-telangiectasia patients

Ataxia-telangiectasia is an autosomal recessive disorder affecting 1/40000 to 1/100000 of reported populations. There is 25% possibility for having an affected child when parents are carriers for ATM gene mutation. There is no cure available for this disease and prenatal testing is strongly recommended to prevent this disease. Although preferred method is the direct mutation analysis of ATM gene, but large size of the ATM gene with 63 exons and the large number of possible mutations in patients considerably limit efficiency of mutation analysis as a choice in diagnosis. Indirect method is a better tool when parents are not carriers of founder mutation and pass different mutations to their children. Indirect molecular diagnosis using ATM related molecular markers facilitates prenatal diagnosis of AT children. In this study, four molecular markers: D11S2179, D11S1787, D11S535, D11S1343 are genotypes in 12 unrelated families [19 patients] from different regions of Iran. Those markers are amplified using extracted sequence primers from Gene Bank with their described PCR conditions. The amplified products were separated using denaturing PAGE gels, and the data were analyzed to detect their pattern of inheritance in each family. In all families, segregation of alleles were according to mandelian inheritance and affected chromosomes were distinguishable from unaffected ones. All carriers and affected patients were diagnosed accurately. Thus, this method is effectively usable in prenatal diagnosis of ataxia telangiectasia

ATM gene mutations detection in Iranian Ataxia-Telangiectasia patients

Ataxia-Telangiectasia [AT] is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, radiation sensitivity and cancer predisposition. The ATM gene on human chromosome 11q22.3 has recently been identified as the gene responsible for ataxia-telangiectasia [AT]. The gene mutated in AT, which has been designated as the ATM gene, encodes a large protein kinase with a PI-3 kinase-related domain. More than 100 mutations are broadly distributed throughout the ATM gene. The large size of the ATM gene [66 exons spanning approximate 150kb of genomic DNA] together with the diversity and broad distribution of mutations in AT patients, greatly limits the utility of direct mutation screening as a diagnostic tool. In this study, 20 families with at least one affected child clinically suspected to have ataxia-telagiectasia were examined and their DNA was extracted and amplified with standard methods. Sequencing methods were used to detect the new point mutation. Four exons which were hot spots for point mutations in ATM gene were detected by PCR-SSCP or PCR-RFLP