Cheering the soul: Ibn Qāḍī Baʿlabakk’s Mufarriḥ an-Nafs. Arabic edition, english translation, study and glossaries

The Mufarriḥ an-nafs (Soul-Cheerer), attributed to Badr ad-Dīn Muẓaffar Ibn Qāḍī Baʿlabakk, who served under the Ayyubids as the Chief Medical Officer of Damascus in the mid-13th century, was written as a comprehensive guide for physicians outlining different approaches to cheering the soul. The tractate is divided into ten chapters, which explore the nature of the soul, its distinction to the body as well as their connection through sensorial perception. Ibn Qāḍī Baʿlabakk distinguishes the bodily senses – hearing, vision, smell, taste, touch – and the inner senses, which he sees as stimulated through activities such as hunting and engagement in poetry and the sciences. The seventh chapter of the Mufarriḥ an-nafs includes an extended encyclopedia on materia medica as well as dispensatory of simple and compound drugs, which is devoted to treating the soul and remains unparalleled in the history of Islamicate medicine. My doctoral dissertation offers a complete recension and translation of the Mufarriḥ an-nafs based on a stemma codicum drawn from the seventeen extant text witnesses. The dissertation contextualizes the work, its author as well as sources, and features a text commentary that seeks to enable the reader to easily place and understand the Mufarriḥ an-nafs within the tradition of Galenic medicine. The glossaries on materia medica found at the end of the dissertation are aimed at facilitating access to the pharmacological dispensatory included in the seventh chapter.

Investigating the role of Copy Number Variants in Specific Language Impairment and identification of new candidate genes

Specific language impairment (SLI) is a complex neurodevelopmental disorder defined as an unexpected failure to develop normal language abilities for no obvious reason. Copy number variants (CNVs) are an important source of variation in the susceptibility to neuropsychiatric disorders. Therefore, a CNV study within SLI families was performed to investigate the role of structural variants in SLI. Among the identified CNVs, we focused on CNVs on chromosome 15q11-q13, recurrently observed in neuropsychiatric conditions, and a homozygous exonic microdeletion in ZNF277. Since this microdeletion falls within the AUTS1 locus, a region linked to autism spectrum disorders (ASD), we investigated a potential role of ZNF277 in SLI and ASD. Frequency data and expression analysis of the ZNF277 microdeletion suggested that this variant may contribute to the risk of language impairments in a complex manner, that is independent of the autism risk previously described in this region. Moreover, we identified an affected individual with a dihydropyrimidine dehydrogenase (DPD) deficiency, caused by compound heterozygosity of two deleterious variants in the gene DPYD. Since DPYD represents a good candidate gene for both SLI and ASD, we investigated its involvement in the susceptibility to these two disorders, focusing on the splicing variant rs3918290, the most common mutation in the DPD deficiency. We observed a higher frequency of rs3918290 in SLI cases (1.2%), compared to controls (~0.6%), while no difference was observed in a large ASD cohort. DPYD mutation screening in 4 SLI and 7 ASD families carrying the splicing variant identified six known missense changes and a novel variant in the promoter region. These data suggest that the combined effect of the mutations identified in affected individuals may lead to an altered DPD activity and that rare variants in DPYD might contribute to a minority of cases, in conjunction with other genetic or non-genetic factors.

Language, action, and sensoriality: a multimodal analysis of interactions in inclusive sport climbing with visually impaired athletes

In sport climbing, athletes with vision impairments are constantly accompanied by their guides – usually trainers – both during the preparatory inspection of the routes and whilst climbing. Trainers are, so to speak, the climbers’ eyes, in the sense that they systematically put their vision in the service of the climbers’ mobility and sporting performance. The synergy between trainers and athletes is based on peculiar, strictly multimodal interactive practices that are focused on the body and on its constantly evolving sensory engagement with the materiality of routes. In this context, sensory perception and embodied actions required to plan and execute the climb are configured as genuinely interactive accomplishments. Drawing on the theoretical framework of Embodied and Situated Cognition and on the methodology of Conversation Analysis, this thesis engages in the multimodal analysis of trainer-athlete interactions in paraclimbing. The analysis is based on a corpus of video recorded climbing sessions. The major findings of the study can be summarized as follows. 1) Intercorporeality is key to interactions between trainers and athletes with visual impairments. The participants orient to perceiving the climbing space and acting in it as a ‘We’. 2) The grammar, lexicon, prosody, and timing of the trainers’ instructions are finely tuned to the ongoing corporeal experience of the climbers. 3) Climbers with visual impairments build their actions by using sensory resources that are provided by their trainers. This result is of particular importance as it shows that resources and constraints for action are in a fundamental way constituted in interaction with Others and with specific socio-material ecologies, rather than being defined a priori by the organs and functions of individuals’ body and mind. Individual capabilities are thus enhanced and extended in interaction, which encourages a more ecological view of (dis)ability.