Combined linkage and linkage disequilibrium analysis of a motor speech phenotype within families ascertained for autism risk loci

Using behavioral and genetic information from the Autism Genetics Resource Exchange (AGRE) data set we developed phenotypes and investigated linkage and association for individuals with and without Autism Spectrum Disorders (ASD) who exhibit expressive language behaviors consistent with a motor speech disorder. Speech and language variables from Autism Diagnostic Interview-Revised (ADI-R) were used to develop a motor speech phenotype associated with non-verbal or unintelligible verbal behaviors (NVMSD:ALL) and a related phenotype restricted to individuals without significant comprehension difficulties (NVMSD:C). Using Affymetrix 5.0 data, the PPL framework was employed to assess the strength of evidence for or against trait-marker linkage and linkage disequilibrium (LD) across the genome. Ingenuity Pathway Analysis (IPA) was then utilized to identify potential genes for further investigation. We identified several linkage peaks based on two related language-speech phenotypes consistent with a potential motor speech disorder: chromosomes 1q24.2, 3q25.31, 4q22.3, 5p12, 5q33.1, 17p12, 17q11.2, and 17q22 for NVMSD:ALL and 4p15.2 and 21q22.2 for NVMSD:C. While no compelling evidence of association was obtained under those peaks, we identified several potential genes of interest using IPA. Conclusion: Several linkage peaks were identified based on two motor speech phenotypes. In the absence of evidence of association under these peaks, we suggest genes for further investigation based on their biological functions. Given that autism spectrum disorders are complex with a wide range of behaviors and a large number of underlying genes, these speech phenotypes may belong to a group of several that should be considered when developing narrow, well-defined, phenotypes in the attempt to reduce genetic heterogeneity

Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders

Verbal trait disorders encompass a wide range of conditions and are marked by deficits in five domains that impair a person’s ability to communicate: speech, language, reading, spelling, and writing. Nonword repetition is a robust endophenotype for verbal trait disorders that is sensitive to cognitive processes critical to verbal development, including auditory processing, phonological working memory, and motor planning and programming. In the present study, we present a six-generation extended pedigree with a history of verbal trait disorders. Using genome-wide multipoint variance component linkage analysis of nonword repetition, we identified a region spanning chromosome 13q14–q21 with LOD = 4.45 between 52 and 55 cM, spanning approximately 5.5 Mb on chromosome 13. This region overlaps with SLI3, a locus implicated in reading disability in families with a history of specific language impairment. Our study of a large multigenerational family with verbal trait disorders further implicates the SLI3 region in verbal trait disorders. Future studies will further refine the specific causal genetic factors in this locus on chromosome 13q that contribute to language traits. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s00439-016-1717-z) contains supplementary material, which is available to authorized users

Cerebellar-dependent delay eyeblink conditioning in adolescents with Specific Language Impairment

Cerebellar impairments have been hypothesized as part of the pathogenesis of Specific Language Impairment (SLI), although direct evidence of cerebellar involvement is sparse. Eyeblink Conditioning (EBC) is a learning task with well documented cerebellar pathways. This is the first study of EBC in affected adolescents and controls. 16 adolescent controls, 15 adolescents with SLI, and 12 adult controls participated in a delay EBC task. Affected children had low general language performance, grammatical deficits but no speech impairments. The affected group did not differ from the control adolescent or control adult group, showing intact cerebellar functioning on the EBC task. This study did not support cerebellar impairment at the level of basic learning pathways as part of the pathogenesis of SLI. Outcomes do not rule out cerebellar influences on speech impairment, or possible other forms of cerebellar functioning as contributing to SLI

Notes for genera: basal clades of Fungi (including Aphelidiomycota, Basidiobolomycota, Blastocladiomycota, Calcarisporiellomycota, Caulochytriomycota, Chytridiomycota, Entomophthoromycota, Glomeromycota, Kickxellomycota, Monoblepharomycota, Mortierellomycota, Mucoromycota, Neocallimastigomycota, Olpidiomycota, Rozellomycota and Zoopagomycota)

Compared to the higher fungi (Dikarya), taxonomic and evolutionary studies on the basal clades of fungi are fewer in number. Thus, the generic boundaries and higher ranks in the basal clades of fungi are poorly known. Recent DNA based taxonomic studies have provided reliable and accurate information. It is therefore necessary to compile all available information since basal clades genera lack updated checklists or outlines. Recently, Tedersoo et al. (MycoKeys 13:1--20, 2016) accepted Aphelidiomycota and Rozellomycota in Fungal clade. Thus, we regard both these phyla as members in Kingdom Fungi. We accept 16 phyla in basal clades viz. Aphelidiomycota, Basidiobolomycota, Blastocladiomycota, Calcarisporiellomycota, Caulochytriomycota, Chytridiomycota, Entomophthoromycota, Glomeromycota, Kickxellomycota, Monoblepharomycota, Mortierellomycota, Mucoromycota, Neocallimastigomycota, Olpidiomycota, Rozellomycota and Zoopagomycota. Thus, 611 genera in 153 families, 43 orders and 18 classes are provided with details of classification, synonyms, life modes, distribution, recent literature and genomic data. Moreover, Catenariaceae Couch is proposed to be conserved, Cladochytriales Mozl.-Standr. is emended and the family Nephridiophagaceae is introduced

Os efeitos do método Ai Chi em pacientes portadoras da síndrome fibromiálgica The effect of Ai Chi method in fybromialgic patients

O objetivo do estudo é demonstrar os efeitos do método Ai Chi como forma alternativa de abordagem hidroterapêutica em pacientes portadoras da síndrome fibromiálgica. Foram estudados dez pacientes; quatro fizeram parte do grupo experimento e cinco, do grupo controle, com uma desistência. As pacientes foram avaliadas através do Questionário de Impacto da Fibromialgia (QIF) e da Escala de Intensidade e Índice de dor nos Pontos Sensíveis. Foram realizadas duas avaliações, uma antes e outra após o tratamento. As pacientes foram submetidas a dez sessões do método Ai Chi, com duração de quarenta minutos. Houve melhora na intensidade da dor, de acordo com a escala da intensidade de dor nos pontos sensíveis, após a intervenção; já a qualidade de vida manteve-se sem alteração. Na qualidade de vida, observou-se que os grupos obtiveram resultados semelhantes; isso se deve ao fato que as pacientes não apresentaram melhora no seu estado depressivo. No índice dos pontos sensíveis, verificou-se diferença entre os grupos. A explicação para essa diferença deve-se possivelmente aos benefícios da imersão em água aquecida e aos efeitos do método Ai Chi. Não houve diferença significativa entre os grupos, o que pode ser atribuído às limitações do estudo. Desta forma, torna-se relevante a realização de novos estudos referentes à aplicação do método Ai Chi em pacientes portadoras da síndrome fibromiálgica.<br>The objective of this article is to show the effect of the Ai Chi method, as an alternative form of hydrotherapeutic approach in fibromyalgia syndrome patients. Ten patients were studied, four were part of the experiment group and five of the control group, with one desistance. The patients were evaluated through the Fibromyalgia Impact Questionnaire (QIF) and Scale of Intensity and Index of pain in Sensible Points. Two evaluations were performed, before and after the treatment. The patients were submitted to ten sessions of the Ai Chi method during 40 minutes. The scale of intensity of pain in sensible points presented an improvement in the intensity of pain after the intervention, while quality of life remained without alteration. Regarding the quality of life, it was observed that the groups had similar results, because of the fact that patients had not presented improvement at depressive state. It was also verified a difference in the index of the sensible points between the groups; the explanation for this difference might be because of the benefits of the immersion in warm water and the effect of the Ai Chi method. There was no significant difference between the groups, which can be attributed to its limitations. In this way, new studies referring to the application of the Ai Chi method in patients carrying fibromyalgia syndrome become relevant