SIGMORPHON 2021 Shared Task on Morphological Reinflection: Generalization Across Languages

This year's iteration of the SIGMORPHON Shared Task on morphological reinflection focuses on typological diversity and cross-lingual variation of morphosyntactic features. In terms of the task, we enrich UniMorph with new data for 32 languages from 13 language families, with most of them being under-resourced: Kunwinjku, Classical Syriac, Arabic (Modern Standard, Egyptian, Gulf), Hebrew, Amharic, Aymara, Magahi, Braj, Kurdish (Central, Northern, Southern), Polish, Karelian, Livvi, Ludic, Veps, Võro, Evenki, Xibe, Tuvan, Sakha, Turkish, Indonesian, Kodi, Seneca, Asháninka, Yanesha, Chukchi, Itelmen, Eibela. We evaluate six systems on the new data and conduct an extensive error analysis of the systems' predictions. Transformer-based models generally demonstrate superior performance on the majority of languages, achieving >90% accuracy on 65% of them. The languages on which systems yielded low accuracy are mainly under-resourced, with a limited amount of data. Most errors made by the systems are due to allomorphy, honorificity, and form variation. In addition, we observe that systems especially struggle to inflect multiword lemmas. The systems also produce misspelled forms or end up in repetitive loops (e.g., RNN-based models). Finally, we report a large drop in systems' performance on previously unseen lemmas.Peer reviewe

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)

Elevated representational similarity of voluntary action and inhibition in Tourette syndrome

Many people with Tourette syndrome (TS) are able to volitionally suppress tics, under certain circumstances. To better understand the neural mechanisms that underlie this ability, we used functional magnetic resonance neuroimaging (fMRI) to track regional brain activity during performance of an intentional inhibition task. On some trials, TS and comparison (non-TS) participants chose to make or withhold a motor action (a button press), while on other trials, they followed ‘Go’ and ‘NoGo’ instructions to make or withhold the same button press action. Using representational similarity analysis, an fMRI multivariate pattern analysis technique, we assessed how TS and comparison participants differed in neural activity when internally choosing to make or to withhold an action, relative to externally-cued responses on Go and NoGo trials. Analyses were pre-registered, and the data and code are publicly available. We considered similarity of action representations within regions implicated as critical to motor action release or inhibition, and to symptom expression in TS, namely the pre-supplementary motor area (preSMA), inferior frontal gyrus (IFG), insula, caudate nucleus, and primary motor cortex (M1). Strikingly, in the TS compared to comparison group, neural activity within preSMA displayed greater representational similarity across all action types. There was lower response-specific differentiation within preSMA of action and inhibition plans, and of internally chosen and externally-cued actions, implicating the region as a functional nexus in the symptomatology of TS. Correspondingly, patients with TS may experience volitional tic suppression as an effortful and tiring process because, at the top of the putative motor decision hierarchy, activity within the population of neurons facilitating action is overly similar to activity within the population of neurons promoting inhibition. Group differences in representational similarity were also present in M1. Here, representations of internally-chosen and externally-cued inhibition were more differentiated in the TS group than in the comparison group, potentially a consequence of a weaker voluntary capacity earlier in the motor hierarchy to proactively suppress action. Tic severity and premonitory sensations correlated with M1 and caudate nucleus representational similarity, but these effects did not survive correction for multiple comparisons. In summary, more rigid preSMA neural coding across action categories may constitute a central feature of TS, which can account for patients’ experience of ‘unvoluntary’ tics, and effortful tic suppression