Assessment of Single-Word Production for Children under Three Years of Age: Comparison of Children with and without Cleft Palate

Background. This study reports comparative phonological assessment results for children with cleft lip and/or palate (CLP) to typically developing peers using an evaluation tool for early phonological skills. Methods. Children without clefts (NC = noncleft) and 24 children with CLP, ages of 18–36 months, were evaluated using the Profile of Early Expressive Phonological Skills (PEEPSs) [1]. Children interacted with toy manipulatives to elicit a representative sample of target English consonants and syllable structures that are typically acquired by children between 18 and 27 months of age. Results. Results revealed significant differences between the two groups with regard to measures of consonant inventory, place of articulation, manner of production, accuracy, and error patterns. Syllable structure did not indicate differences, with the exception of initial consonant clusters. Conclusions. findings provide support for PEEPS as a viable option for single-word assessment of children with CLP prior to 3 years of age

SNPs Meet CNVs in Genome-Wide Association Studies: HGV2007 Meeting Report

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SNPs Meet CNVs in Genome-Wide Association Studies: HGV2007 Meeting Report

SNPs meet CNVs in genome-wide association studies: HGV2007 meeting repor

Academic and clinical preparation in speech-language pathology and audiology: a global training consortium

ABSTRACT: Purpose: To describe a research-based global\ud curriculum in speech-language pathology and audiology that\ud is part of a funded cross-linguistic consortium among 2 U.S.\ud and 2 Brazilian universities.\ud Method: The need for a global curriculum in speechlanguage\ud pathology and audiology is outlined, and different\ud funding sources are identified to support development of a\ud global curriculum. The U.S. Department of Education’s Fund\ud for the Improvement of Post-Secondary Education (FIPSE), in\ud conjunction with the Brazilian Ministry of Education (Fundacao\ud Coordenacao de Aperfeicoamento de Pessoal de Nivel\ud Superior; CAPES), funded the establishment of a shared\ud research curriculum project, “Consortium for Promoting\ud Cross-Linguistic Understanding of Communication Disabilities\ud in Children” for East Tennessee State University and the University of Northern Iowa and 2 Brazilian universities\ud (Universidade Federal de Santa Maria and Universidade de\ud São Paulo-Baurú).\ud Results: The goals and objectives of the research-based\ud global curriculum are summarized, and a description of an\ud Internet-based course, “Different Languages, One World,” is\ud provided\ud Conclusion: Partnerships such as the FIPSE–CAPES consortium\ud provide a foundation for training future generations of\ud globally and research-prepared practitioners in speechlanguage\ud pathology and audiology.U.S. Department of Education Fund for the Improvement of Post-Secondary Education P116M100014Brazilian Ministry of Education Fundacao Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior 094/1

Assessment of Single-Word Production for Children under Three Years of Age: Comparison of Children with and without Cleft Palate

Background. This study reports comparative phonological assessment results for children with cleft lip and/or palate (CLP) to typically developing peers using an evaluation tool for early phonological skills. Methods. Children without clefts (NC = noncleft) and 24 children with CLP, ages of 18–36 months, were evaluated using the Profile of Early Expressive Phonological Skills (PEEPSs) [1]. Children interacted with toy manipulatives to elicit a representative sample of target English consonants and syllable structures that are typically acquired by children between 18 and 27 months of age. Results. Results revealed significant differences between the two groups with regard to measures of consonant inventory, place of articulation, manner of production, accuracy, and error patterns. Syllable structure did not indicate differences, with the exception of initial consonant clusters. Conclusions. findings provide support for PEEPS as a viable option for single-word assessment of children with CLP prior to 3 years of age

The L&E of Intellectual Property – Do we get maximum innovation with the current regime?

Innovation is crucial to economic growth – the essential path for lifting much of the world population out of dire poverty and for maintaining the living standard of those who already have. To stimulate innovation, the legal system has to support the means through which innovators seek to get rewarded for their efforts. Amongst these means, some, such as the first mover advantage or 'lead time,' are not directly legal; but secrets and intellectual property rights are legal institutions supported for the specific purpose of stimulating innovation. Whilst the protection of secrets has not changed very much over recent years, intellectual property (or IP) has. IP borrows some features from ordinary property rights, but is also distinct, in that, unlike physical goods, information, the object of IP, is not inherently scarce; indeed as information and communication technologies expand, the creation and distribution of information is becoming ever cheaper and in many circumstances abundant, so that selection is of the essence ('on the internet, point of view is everything'). Where rights on information extend too far, their monopolising effect may hamper innovation. The paper investigates the underlying structure of IP rights and surveys what we know empirically about the incentive effects of IP as about industries that flourish without formal IP

Circular economy inspired imaginaries for sustainable innovations

In this chapter, Narayan and Tidström draw on the concept of imaginaries to show how Circular Economy (CE) can facilitate values that enable sustainable innovation. Innovation is key for sustainability, however, understanding and implementing sustainable innovation is challenging, and identifying the kind of actions that could direct sustainable innovations is important. The findings of this study indicate that CE-inspired imaginaries enable collaboration and by relating such imaginaries to common and shared social and cultural values, intermediaries could motivate actors into taking actions that contribute to sustainable innovation.fi=vertaisarvioitu|en=peerReviewed

Comparison of Antibody Repertoires Produced by HIV-1 Infection, Other Chronic and Acute Infections, and Systemic Autoimmune Disease

Background Antibodies (Abs) produced during HIV-1 infection rarely neutralize a broad range of viral isolates; only eight broadly-neutralizing (bNt) monoclonal (M)Abs have been isolated. Yet, to be effective, an HIV-1 vaccine may have to elicit the essential features of these MAbs. The V genes of all of these bNt MAbs are highly somatically mutated, and the VH genes of five of them encode a long (≥20 aa) third complementarity-determining region (CDR-H3). This led us to question whether long CDR-H3s and high levels of somatic mutation (SM) are a preferred feature of anti-HIV bNt MAbs, or if other adaptive immune responses elicit them in general. Methodology and Principal Findings We assembled a VH-gene sequence database from over 700 human MAbs of known antigen specificity isolated from chronic (viral) infections (ChI), acute (bacterial and viral) infections (AcI), and systemic autoimmune diseases (SAD), and compared their CDR-H3 length, number of SMs and germline VH-gene usage. We found that anti-HIV Abs, regardless of their neutralization breadth, tended to have long CDR-H3s and high numbers of SMs. However, these features were also common among Abs associated with other chronic viral infections. In contrast, Abs from acute viral infections (but not bacterial infections) tended to have relatively short CDR-H3s and a low number of SMs, whereas SAD Abs were generally intermediate in CDR-H3 length and number of SMs. Analysis of VH gene usage showed that ChI Abs also tended to favor distal germline VH-genes (particularly VH1-69), especially in Abs bearing long CDR-H3s. Conclusions and Significance The striking difference between the Abs produced during chronic vs. acute viral infection suggests that Abs bearing long CDR-H3s, high levels of SM and VH1-69 gene usage may be preferentially selected during persistent infection

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (OR=1.11, P=5.7×10−15), which persisted after excluding loci implicated in previous studies (OR=1.07, P=1.7 ×10−6). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 ×10−11) and neurobehavioral phenotypes in mouse (OR = 1.18, P= 7.3 ×10−5). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by non-allelic homologous recombination

Common Genetic Variation And Age at Onset Of Anorexia Nervosa

Background Genetics and biology may influence the age at onset of anorexia nervosa (AN). The aims of this study were to determine whether common genetic variation contributes to AN age at onset and to investigate the genetic associations between age at onset of AN and age at menarche. Methods A secondary analysis of the Psychiatric Genomics Consortium genome-wide association study (GWAS) of AN was performed which included 9,335 cases and 31,981 screened controls, all from European ancestries. We conducted GWASs of age at onset, early-onset AN (< 13 years), and typical-onset AN, and genetic correlation, genetic risk score, and Mendelian randomization analyses. Results Two loci were genome-wide significant in the typical-onset AN GWAS. Heritability estimates (SNP-h2) were 0.01-0.04 for age at onset, 0.16-0.25 for early-onset AN, and 0.17-0.25 for typical-onset AN. Early- and typical-onset AN showed distinct genetic correlation patterns with putative risk factors for AN. Specifically, early-onset AN was significantly genetically correlated with younger age at menarche, and typical-onset AN was significantly negatively genetically correlated with anthropometric traits. Genetic risk scores for age at onset and early-onset AN estimated from independent GWASs significantly predicted age at onset. Mendelian randomization analysis suggested a causal link between younger age at menarche and early-onset AN. Conclusions Our results provide evidence consistent with a common variant genetic basis for age at onset and implicate biological pathways regulating menarche and reproduction.Peer reviewe