Search

Children’s initial syntactic acquisition tasks include finding clausal and phrasal units from continuous speech stream and assigning words to grammatical categories. This study inquires if prosodic cues exist in adult speech and mark syntactic units. Participants were Quebec-French speakers. In Experiment 1 participants read Determiner+Noun and Pronoun+Verb utterances. Determiners and pronouns were French words. Nouns and verbs were pseudo-words (e.g., mige, krale, vare) counterbalanced in their occurrences in the utterances. Their prosodic properties (duration, pitch, intensity) were measured. Results showed that the two categories did not differ in prosody: noun versus verb productions ofthese pseudo-words were equivalent. Experiment 2 tested whether larger utterances were produced with prosodic cues supporting different grammatical categories and phrasal groupings. The same pseudo-words were the final words (counterbalanced) in 1) [Determiner+Adjective+Noun] and 2)[[Determiner+Noun]+[Verb]] structures. The second word in both structures was felli. Results showed that the last word as nouns versus verbs differed significantly in duration, pitch and intensity. Moreover, the initial consonant of verb productions was longer, with a distinct preceding pause. The second word in (2) exhibited categorical and boundary cues, differing from the second word in (1) in duration, pitch and intensity. We suggest that these acoustic cues may help infants first parse larger utterances and then acquire the syntactic properties of phrases and words based on their distribution.DOI: 10.17074/2238-975X.2015v11n1p85

Background Neural tube defects (NTDs) are very common and severe birth defects that are caused by failure of neural tube closure and that have a complex aetiology. Anencephaly and spina bifida are severe NTDs that affect reproductive fitness and suggest a role for de novo mutations (DNMs) in their aetiology. Methods We used whole-exome sequencing in 43 sporadic cases affected with myelomeningocele or anencephaly and their unaffected parents to identify DNMs in their exomes. Results We identified 42 coding DNMs in 25 cases, of which 6 were loss of function (LoF) showing a higher rate of LoF DNM in our cohort compared with control cohorts. Notably, we identified two protein-truncating DNMs in two independent cases in SHROOM3, previously associated with NTDs only in animal models. We have demonstrated a significant enrichment of LoF DNMs in this gene in NTDs compared with the gene specific DNM rate and to the DNM rate estimated from control cohorts. We also identified one nonsense DNM in PAX3 and two potentially causative missense DNMs in GRHL3 and PTPRS. Conclusions Our study demonstrates an important role of LoF DNMs in the development of NTDs and strongly implicates SHROOM3 in its aetiology. [ABSTRACT FROM AUTHOR]