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Phenotypic divergence between individuals with self-reported autistic traits and clinically ascertained autism
While allowing for rapid recruitment of large samples, online research relies heavily on participants’ self-reports of neuropsychiatric traits, foregoing the clinical characterizations available in laboratory settings. Autism spectrum disorder (ASD) research is one example for which the clinical validity of such an approach remains elusive. Here we compared 56 adults with ASD recruited in person and evaluated by clinicians to matched samples of adults recruited through an online platform (Prolific; 56 with high autistic traits and 56 with low autistic traits) and evaluated via self-reported surveys. Despite having comparable self-reported autistic traits, the online high-trait group reported significantly more social anxiety and avoidant symptoms than in-person ASD participants. Within the in-person sample, there was no relationship between self-rated and clinician-rated autistic traits, suggesting they may capture different aspects of ASD. The groups also differed in their social tendencies during two decision-making tasks; the in-person ASD group was less perceptive of opportunities for social influence and acted less affiliative toward virtual characters. These findings highlight the need for a differentiation between clinically ascertained and trait-defined samples in autism research.
Polygenic scores for autism are associated with reduced neurite density in adults and children from the general population
Genetic variants linked to autism are thought to change cognition and behaviour by altering the structure and function of the brain. Although a substantial body of literature has identified structural brain differences in autism, it is unknown whether autism-associated common genetic variants are linked to changes in cortical macro- and micro-structure. We investigated this using neuroimaging and genetic data from adults (UK Biobank, N = 31,748) and children (ABCD, N = 4928). Using polygenic scores and genetic correlations we observe a robust negative association between common variants for autism and a magnetic resonance imaging derived phenotype for neurite density (intracellular volume fraction) in the general population. This result is consistent across both children and adults, in both the cortex and in white matter tracts, and confirmed using polygenic scores and genetic correlations. There were no sex differences in this association. Mendelian randomisation analyses provide no evidence for a causal relationship between autism and intracellular volume fraction, although this should be revisited using better powered instruments. Overall, this study provides evidence for shared common variant genetics between autism and cortical neurite density.
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by increased synthesis of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23), which results in renal phosphate wasting with consecutive hypophosphataemia, rickets, osteomalacia, disproportionate short stature, oral manifestations, pseudofractures, craniosynostosis, enthesopathies and osteoarthritis. Patients with XLH should be provided with multidisciplinary care organized by a metabolic bone expert. Historically, these patients were treated with frequent doses of oral phosphate supplements and active vitamin D, which was of limited efficiency and associated with adverse effects. However, the management of XLH has evolved in the past few years owing to the availability of burosumab, a fully humanized monoclonal antibody that neutralizes circulating FGF23. Here, we provide updated clinical practice recommendations for the diagnosis and management of XLH to improve outcomes and quality of life in these patients.
Efficacy of oral irrigators compared to other interdental aids for managing peri-implant diseases: a systematic review
Peri-implant diseases (peri-implant mucositis and peri-implantitis) are inflammatory conditions that affect the peri-implant tissues and are induced by microbial biofilms (dental plaque) formed around the implant. Removal of biofilm is the fundamental step in managing peri-implant diseases. Interdental cleaning aids such as interdental brush, unitufted brush, or oral irrigation along with regular toothbrushing are recommended for effective plaque control around implants. The present systematic review aims to evaluate the efficacy of home use of oral irrigators compared to other plaque control methods for managing peri-implant diseases.
Comparative study of the oral hygiene status of users of mefakia (traditional tooth cleaning method) and modern toothbrushes among patients at the Holy Bethel Dental Clinic in Addis Ababa, Ethiopia
Mefakia is a well-known traditional chewing wood used in Ethiopia to cleanse the mouth. Although mefakia is used in parallel with modern toothbrushes to improve oral hygiene, there is a gap in the literature regarding its comparative performance in removing plaque and maintaining good oral hygiene.
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