Enrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings.

Homo sapiens and Neanderthals underwent hybridization during the Middle/Upper Paleolithic age, culminating in retention of small amounts of Neanderthal-derived DNA in the modern human genome. In the current study, we address the potential roles Neanderthal single nucleotide polymorphisms (SNP) may be playing in autism susceptibility in samples of black non-Hispanic, white Hispanic, and white non-Hispanic people using data from the Simons Foundation Powering Autism Research (SPARK), Genotype-Tissue Expression (GTEx), and 1000 Genomes (1000G) databases. We have discovered that rare variants are significantly enriched in autistic probands compared to race-matched controls. In addition, we have identified 25 rare and common SNPs that are significantly enriched in autism on different ethnic backgrounds, some of which show significant clinical associations. We have also identified other SNPs that share more specific genotype-phenotype correlations but which are not necessarily enriched in autism and yet may nevertheless play roles in comorbid phenotype expression (e.g., intellectual disability, epilepsy, and language regression). These results strongly suggest Neanderthal-derived DNA is playing a significant role in autism susceptibility across major populations in the United States.

Evaluation of strategies to recruit and retain older people with dementia and their informal carers into a Tai Chi Trial to improve balance and prevent falls.

Objectives: Randomised control trials (trials) involving people with dementia lack detailed analysis of recruitment and retention strategies. To address this, we examined the effectiveness of strategies in "The TACIT Trial: TAi ChI for people with demenTia". Methods: We recruited dyads (people with dementia and carers) from 3 South of England sites utilising different strategies. Recruitment strategy effectiveness was measured by percent yield (number randomised of total referrals) and cost per randomised participant. Our retention strategy (maintaining contact with participants during weekly telephone calls) was measured by percent yield (number retained by six-month follow-up). Results: Of 359 dyads, 24% were randomised into the study (n=85). The most resource-intensive strategy (research nurses spending 30 minutes explaining the study) had the highest referral to randomisation rate. An incremental cost-effectiveness ratio suggested an alternative approach (nurses and doctors spending 5 minutes explaining the study) was most cost-effective. Retention rates were 86% (n=36/42; intervention group) and 81% (35/43; control group); main reasons for attrition were worsening health and lack of study interest. Conclusions: The results demonstrate person-centred strategies enabling staff to spend time with participants were effective in supporting recruitment and retention. Those designing future trials must consider such strategies and the associated costs.

A review of participant recruitment transparency for sound validation of hip surgery simulators: a novel umbrella approach.

Malposition of implants is associated with complications, higher wear and increased revision rates in total hip replacement (THR) along with surgeon inexperience. Training THR residents to reach expert proficiency is affected by the high cost and resource limitations of traditional training techniques. Research in extended reality (XR) technologies can overcome such barriers. These offer a platform for learning, objective skill-monitoring and, potentially, for automated certification. Prior to their incorporation into curricula however, thorough validation must be undertaken. As validity is heavily dependent on the participants recruited, there is a need to review, scrutinise and define recruitment criteria in the absence of pre-defined standards, for sound simulator validation. A systematic review on PubMed and IEEE databases was conducted. Training simulator validation research in fracture, arthroscopy and arthroplasty relating to the hip was included. 46 validation studies were reviewed. It was observed that there was no uniformity in reporting or recruitment criteria, rendering cross-comparison challenging. This work developed Umbrella categories to help prioritise recruitment, and has formulated a detailed template of fields and guidelines for reporting criteria so that, in future, research may come to a consensus as to recruitment criteria for a hip "expert" or "novice".