З історії Білопілля

Наук. кер.: В.Б. Звагельськи

Phonetic and phonological errors in children with high functioning autism and Asperger syndrome

This study involved a qualitative analysis of speech errors in children with autism spectrum disorders (ASDs). Participants were 69 children aged 5-13 years; 30 had high functioning autism and 39 had Asperger syndrome. On a standardized test of articulation, the minority (12%) of participants presented with standard scores below the normal range, indicating a speech delay/disorder. Although all the other children had standard scores within the normal range, a sizeable proportion (33% of those with normal standard scores) presented with a small number of errors. Overall 41% of the group produced at least some speech errors. The speech of children with ASD was characterized by mainly developmental phonological processes (gliding, cluster reduction and final consonant deletion most frequently), but non-developmental error types (such as phoneme specific nasal emission and initial consonant deletion) were found both in children identified as performing below the normal range in the standardized speech test and in those who performed within the normal range. Non-developmental distortions occurred relatively frequently in the children with ASD and previous studies of adolescents and adults with ASDs shows similar errors, suggesting that they do not resolve over time. Whether or not speech disorders are related specifically to ASD, their presence adds an additional communication and social barrier and should be diagnosed and treated as early as possible in individual children

Prosody and its relationship to language in school-aged children with high-functioning autism.

This series consists of unpublished working- papers. They are not final versions and may be superseded by publication in journal or book form, which should be cited in preference. All rights remain with the author(s) at this stage, and circulation of a work in progress in this series does not prejudice its later publication. Comments to authors are welcome. Subsequent publication & presentation details: Dec 2006, in press at International Journal of Language and Communication Disorders.Disordered expressive prosody is a widely reported characteristic of the speech of individuals with autism. Despite this, it has received little attention in the research literature and the few studies that have addressed it have not described its relationship to other aspects of communication. This study investigated the prosody and language skills of 31 children with high functioning autism. The children completed a battery of speech, language and nonverbal assessments and a procedure for assessing receptive and expressive prosody.Language skills varied, but the majority of children had deficits in at least one aspect of language with expressive language most severely impaired. All of the children had difficulty with at least one aspect of prosody and prosodic ability correlated highly with expressive and receptive language.caslunpub141unpu

The prosody-language relationship in children with high-functioning autism

Submitted for publication in Gomez, J., McGregor, E., Nunez, M. and Williams, K. (Eds.). Autism: An Integrated View. Oxford: Blackwell Publishing, due for publication 2007Abstract In Kanner's original description of autism he noted disordered prosody as a common feature. Despite this, the area has received very little attention in the literature and those studies that have addressed prosody in autism have not addressed its relationship to other aspects of communication. This chapter will give an overview of research in this area to date and summarise the findings of a study designed to investigate the prosody and language skills of 31 children with high functioning autism. Two case studies of children with autism will be used to illustrate the relationship between language and prosody and to emphasise the prosodic impairment present in many children with autism.caslunpub148unpu

Novel Associations of Nonstructural Loci with Paraoxonase Activity

The high-density-lipoprotein-(HDL-) associated esterase paraoxonase 1 (PON1) is a likely contributor to the antioxidant and antiatherosclerotic capabilities of HDL. Two nonsynonymous mutations in the structural gene, PON1, have been associated with variation in activity levels, but substantial interindividual differences remain unexplained and are greatest for substrates other than the eponymous paraoxon. PON1 activity levels were measured for three substrates—organophosphate paraoxon, arylester phenyl acetate, and lactone dihydrocoumarin—in 767 Mexican American individuals from San Antonio, Texas. Genetic influences on activity levels for each substrate were evaluated by association with approximately one million single nucleotide polymorphism (SNPs) while conditioning on PON1 genotypes. Significant associations were detected at five loci including regions on chromosomes 4 and 17 known to be associated with atherosclerosis and lipoprotein regulation and loci on chromosome 3 that regulate ubiquitous transcription factors. These loci explain 7.8% of variation in PON1 activity with lactone as a substrate, 5.6% with the arylester, and 3.0% with paraoxon. In light of the potential importance of PON1 in preventing cardiovascular disease/events, these novel loci merit further investigation

Mapping of a blood pressure QTL on chromosome 17 in American Indians of the strong heart family study

Abstract Background Blood pressure (BP) is a complex trait, with a heritability of 30 to 40%. Several genome wide associated BP loci explain only a small fraction of the phenotypic variation. Family studies can provide an important tool for gene discovery by utilizing trait and genetic transmission information among relative-pairs. We have previously described a quantitative trait locus at chromosome 17q25.3 influencing systolic BP in American Indians of the Strong Heart Family Study (SHFS). This locus has been reported to associate with variation in BP traits in family studies of Europeans, African Americans and Hispanics. Methods To follow-up persuasive linkage findings at this locus, we performed comprehensive genotyping in the 1-LOD unit support interval region surrounding this QTL using a multi-step strategy. We first genotyped 1,334 single nucleotide polymorphisms (SNPs) in 928 individuals from families that showed evidence of linkage for BP. We then genotyped a second panel of 306 SNPs in all SHFS participants (N = 3,807) for genes that displayed the strongest evidence of association in the region, and, in a third step, included additional genotyping to better cover the genes of interest and to interrogate plausible candidate genes in the region. Results Three genes had multiple SNPs marginally associated with systolic BP (TBC1D16, HRNBP3 and AZI1). In BQTN analysis, used to estimate the posterior probability that any variant in each gene had an effect on the phenotype, AZI1 showed the most prominent findings (posterior probability of 0.66). Importantly, upon correction for multiple testing, none of our study findings could be distinguished from chance. Conclusion Our findings demonstrate the difficulty of follow-up studies of linkage studies for complex traits, particularly in the context of low powered studies and rare variants underlying linkage peaks

Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study

<p>Abstract</p> <p>Background</p> <p>Systemic blood pressure, influenced by both genetic and environmental factors, is regulated via sympathetic nerve activity. We assessed the role of genetic variation in three subunits of the neuromuscular nicotinic acetylcholine receptor positioned on chromosome 2q, a region showing replicated evidence of linkage to blood pressure.</p> <p>Methods</p> <p>We sequenced <it>CHRNA1</it>, <it>CHRND </it>and <it>CHRNG </it>in 24 Amish subjects from the Amish Family Diabetes Study (AFDS) and identified 20 variants. We then performed association analysis of non-redundant variants (n = 12) in the complete AFDS cohort of 1,189 individuals, and followed by genotyping blood pressure-associated variants (n = 5) in a replication sample of 1,759 individuals from the Framingham Heart Study (FHS).</p> <p>Results</p> <p>The minor allele of a synonymous coding SNP, rs2099489 in <it>CHRNG</it>, was associated with higher systolic blood pressure in both the Amish (p = 0.0009) and FHS populations (p = 0.009) (minor allele frequency = 0.20 in both populations).</p> <p>Conclusion</p> <p><it>CHRNG </it>is currently thought to be expressed only during fetal development. These findings support the Barker hypothesis, that fetal genotype and intra-uterine environment influence susceptibility to chronic diseases later in life. Additional studies of this variant in other populations, as well as the effect of this variant on acetylcholine receptor expression and function, are needed to further elucidate its potential role in the regulation of blood pressure. This study suggests for the first time in humans, a possible role for genetic variation in the neuromuscular nicotinic acetylcholine receptor, particularly the gamma subunit, in systolic blood pressure regulation.</p

Genome-wide Linkage Analysis of Pulse Pressure in American Indians: The Strong Heart Study

Pulse pressure, a measure of central arterial stiffness and a predictor of cardiovascular mortality, has known genetic components

Social- and Behavioral-Specific Genetic Effects on Blood Pressure Traits: The Strong Heart Family Study

Population studies have demonstrated an important role of social, behavioral, and environmental factors in blood pressure levels. Accounting for the genetic interaction of these factors may help to identify common blood pressure susceptibility alleles