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The genetic basis of congenital glaucoma with systemic anomalies is largely unknown. Whole exome sequencing ( WES) in 10 probands with congenital glaucoma and variable systemic anomalies identified pathogenic or likely pathogenic variants in three probands; in two of these, a combination of two Mendelian disorders was found to completely explain the patients' features whereas in the third case only the ocular findings could be explained by the genetic diagnosis. The molecular diagnosis for glaucoma included two cases with compound heterozygous or homozygous pathogenic alleles in CYP1B1 and one family with a dominant pathogenic variant in FOXC1; the second genetic diagnosis for the additional systemic features included compound heterozygous mutations in NPHS1 in one family and a heterozygous 18q23 deletion in another pedigree. These findings show the power of WES in the analysis of complex conditions and emphasize the importance of CYP1B1 screening in patients with congenital glaucoma regardless of the presence/absence of other systemic anomalies. [ABSTRACT FROM AUTHOR]

The partly articulated specimen of the Palaeozoic (Early Carboniferous) chondrichthyan 'Cladodus'neilsoniTraquair from East Kilbride has been known since the late nineteenth century. As such, 'C.'neilsoniTraquair has been cited in numerous publications, but it has become increasingly clear that its anatomy and systematic affinities are obscure. This comprehensive redescription of 'C.'neilsonireveals new details of the neurocranium (including presence of an otico-occipital fissure), dentition, visceral arches (clarifying the condition of the basibranchial pattern plus elongate copula), and pectoral fin. These data refute previously suggested synonymies, such as between 'C'neilsoniand the contemporaneous BearsdenStethacanthus. Attribution of 'C.'neilsonito the taxonomically unsupportable genus 'Cladodus' is rejected, and the species is redesignated asGutturensisneilsonigen. nov. Preliminary cladistic analysis placesGutturensisneilsoniwithin a polytomy includingStethacanthus, the symmoriidCobelodus, and the root of a monophyletic group of neoselachian-like genera. ' Cladodont' as a diagnostic term for early chondrichthyan teeth is found to be insufficiently precise, referring to an ill-defined grade of tooth morphologies present in a wide variety of Palaeozoic genera. [ABSTRACT FROM AUTHOR]

Music and language are two fundamental forms of human communication. Many studies examine the development of music- and language-specific knowledge, but few studies compare how listeners know they are listening to music or language. Although we readily differentiate these domains, how we distinguish music and language-and especially speech and song- is not obvious. In two studies, we asked how listeners categorize speech and song. Study 1 used online survey data to illustrate that 4- to 17-year-olds and adults have verbalizable distinctions for speech and song. At all ages, listeners described speech and song differences based on acoustic features, but compared with older children, 4- to 7-year-olds more often used volume to describe differences, suggesting that they are still learning to identify the features most useful for differentiating speech from song. Study 2 used a perceptual categorization task to demonstrate that 4-8-year-olds and adults readily categorize speech and song, but this ability improves with age especially for identifying song. Despite generally rating song as more speech-like, 4- and 6-year-olds rated ambiguous speech-song stimuli as more song-like than 8-year-olds and adults. Four acoustic features predicted song ratings: F0 instability, utterance duration, harmonicity, and spectral flux. However, 4- and 6-year-olds' song ratings were better predicted by F0 instability than by harmonicity and utterance duration. These studies characterize how children develop conceptual and perceptual understandings of speech and song and suggest that children under age 8 are still learning what features are important for categorizing utterances as speech or song. RESEARCH HIGHLIGHTS: Children and adults conceptually and perceptually categorize speech and song from age 4. Listeners use F0 instability, harmonicity, spectral flux, and utterance duration to determine whether vocal stimuli sound like song. Acoustic cue weighting changes with age, becoming adult-like at age 8 for perceptual categorization and at age 12 for conceptual differentiation. Young children are still learning to categorize speech and song, which leaves open the possibility that music- and language-specific skills are not so domain-specific., (© 2022 John Wiley & Sons Ltd.)