Pubmed (TSA) du 30/03/26
1. Chusak C, Pongpankhae P, Sukcharoen C, Suklaew PO, Adisakwattana S. Dietary behaviors, energy intake, and assessment of school lunch consumption in Thai children with autism. Sci Rep;2026 (Mar 29)
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2. Kowalczyk Z, Fadzil AHA, Ward I, Happé F, Stewart GR. ‘A New Pace of Life’: A Mixed-Methods Exploration of Retirement Plans, Preparations and Experiences in Middle-Aged and Older Autistic and Non-Autistic Adults. Autism;2026 (Mar 29):13623613261431925.
Retirement is a major life change affecting routines, finances and wellbeing. Autistic adults may face extra challenges during this transition due to employment barriers, limited support and planning difficulties. However, little is known about their retirement experiences compared to non-autistic adults. This mixed-methods study surveyed 517 adults from the United Kingdom (autistic n = 395), aged 40-90 years, about their retirement status, plans, experiences, employment history, income and financial security. Actual or expected retirement ages were similar across groups, but autistic adults were less likely to have made plans and more likely to have plans disrupted by financial, health or personal factors. They also reported lower rates of full-time work, reduced pensions and lower pre-retirement income. Many highlighted a lack of information about pensions and lifestyle planning. Concerns included isolation, loss of routine and financial worries, but some looked forward to more autonomy and time for self-care, leisure activities and interests. While there were many similarities between the autistic and non-autistic groups, our study found that autistic adults may reach retirement differently due to unique work histories, health needs and planning barriers. Tailored, accessible support is needed to help autistic adults plan for financial stability and meaningful post-retirement lives.Lay abstractRetirement is a major life change, but very little is known about how autistic adults experience this transition. This study explored retirement experiences/expectations of both autistic and non-autistic adults, finding that retirement happened or was expected to happen at similar ages across groups. However, autistic adults were less likely to plan for retirement and often had more difficulties with jobs, money, pensions and their health. Many felt unsure how to prepare for retirement and wanted clearer information. While some had concerns about isolation and changes to routine, others looked forward to more freedom and time for hobbies. The findings highlight the need for better support to help autistic people plan for retirement.
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3. Martin KE, Sábato F, Lynch J, Ferreira-Gonzalez A, Barrie ES. Performance evaluation of a PCR/Nanopore assay for carrier screening for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. J Mol Diagn;2026 (Mar 27)
Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome are among the most common inherited genetic disorders making carrier screening essential for identifying at-risk couples. Traditional screening often involves multiple workflows and may miss rare variants. Comprehensive sequencing offers broader variant detection across diverse populations. We validated a PCR/Nanopore-based assay for comprehensive assessment of CFTR, SMN1/2, and FMR1. Samples included anonymized DNA from: whole blood (archival clinical samples, n = 53), cell lines (n = 19), and residual CAP proficiency testing material (n = 3). Using the AmplideX Nanopore Carrier Plus reagents, gene specific PCR was performed, followed by barcoding and sequencing on MinION flow cells. Data were analyzed using the AmplideX One Reporter software. Results for SMN1/2 and FMR1 showed 100% concordance with orthogonal methods (PCR/fragment analysis lab-developed tests) and 97% for CFTR. These results were reproducible between inter- and intra- run repeats. Here, we show that the PCR/Nanopore-based assay is accurate and reproducible for identifying pathogenic variants and poly-T size in CFTR; SMN1/2 copy number and SNP detection; and FMR1 CGG repeat sizes and AGG interruptions. The assay was also able to detect mosaicism as low as 10% for FMR1. This single workflow enables accurate, reproducible screening for multiple disorders, with the ability to identify more CFTR variants than traditional genotyping panels.
