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Background: Developmental dyslexia (DD) and attention deficit/hyperactivity disorder (ADHD) are highly comorbid neurodevelopmental disorders. Individuals with DD or ADHD have both been shown to have deficits in white matter tracts associated with reading and attentional control networks. However, white matter diffusivity in individuals comorbid with both DD and ADHD (DD + ADHD) has not been specifically explored. Methods: Participants were 3rd and 4th graders (age range = 7 to 11 years; SD = 0.69) from three diagnostic groups ((DD (n = 40), DD + ADHD (n = 22), and typical developing (TD) (n = 20)). Behavioral measures of reading and attention alongside measures of white matter diffusivity were collected for all participants. Results: DD + ADHD and TD groups differed in mean fractional anisotropy (FA) for the left and right Superior Longitudinal Fasciculus (SLF)-Parietal Terminations and SLF-Temporal Terminations. Mean FA for the DD group across these SLF tracts fell between the lower DD + ADHD and higher TD averages. No differences in mean diffusivity nor significant brain-behavior relations were found. Conclusions: Findings suggest that WM diffusivity in the SLF increases along a continuum across DD + ADHD, DD, and TD.

Objective: To develop a cryptoglandular Anal Fistula Core Outcome Set: a minimum set of outcomes that should be measured in all studies of cryptoglandular anal fistula treatment. Background: Variability in the outcomes that are reported in studies of cryptoglandular anal fistula treatment hampers systematic evidence synthesis to identify the best treatment. Methods: This study followed guidance from the Core Outcome Measures in Effectiveness Trials initiative and consisted of three stages: (1) generation of candidate outcomes through systematic review of the literature and qualitative patient interviews; (2) prioritization of outcomes by key stakeholders, including patients, surgeons, gastroenterologists, and radiologists in an online Delphi consensus process; and (3) determination of the final Core Outcome Set (COS) in a consensus meeting attended by patients and clinicians. Results: Sixty-four outcomes were presented in the first Delphi survey round. A total of 191 participants from over 30 countries ranked these outcomes according to their importance in defining treatment success (57.6% surgeons and gastroenterologists, 8.9% radiologists, and 33.5% patients). After two rounds, 53 outcomes were identified as important and discussed in the consensus meeting attended by 10 patients and 12 clinicians. A final 10 outcomes were voted into the COS: clinical fistula healing, radiological healing, recurrence, development of additional fistulas, fistula symptoms, incontinence, psychological impact of treatment, complications and reinterventions, patient satisfaction, and quality of life. Conclusion: The final COS represents an international, multidisciplinary, patient-centered attempt to establish consistency in fistula research, with a substantial focus on patient priorities for treatment.

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This chapter assesses the acquisition of academic knowledge and skills in domains including literacy, numeracy, sciences, arts and physical education. It examines how learning trajectories arise from complex interactions between individual brain development and sociocultural environments. Teaching literacy and numeracy to all students is a goal of most school systems. While there are some fundamental skills children should grasp to succeed in these domains, the best way to support each student’s learning varies depending on their individual development, language, culture and prior knowledge. Here we explore considerations for instruction and assessment in diferent academic domains. To accommodate the fourishing of all children, fexibility must be built into education systems, which need to acknowledge the diverse ways in which children can progress through learning trajectories and demonstrate their knowledge.

Contains fulltext : 220671.pdf (Publisher’s version ) (Closed access), RYR1 encodes the type 1 ryanodine receptor, an intracellular calcium release channel (RyR1) on the skeletal muscle sarcoplasmic reticulum (SR). Pathogenic RYR1 variations can destabilize RyR1 leading to calcium leak causing oxidative overload and myopathy. However, the effect of RyR1 leak has not been established in individuals with RYR1-related myopathies (RYR1-RM), a broad spectrum of rare neuromuscular disorders. We sought to determine whether RYR1-RM affected individuals exhibit pathologic, leaky RyR1 and whether variant location in the channel structure can predict pathogenicity. Skeletal muscle biopsies were obtained from 17 individuals with RYR1-RM. Mutant RyR1 from these individuals exhibited pathologic SR calcium leak and increased activity of calcium-activated proteases. The increased calcium leak and protease activity were normalized by ex-vivo treatment with S107, a RyR stabilizing Rycal molecule. Using the cryo-EM structure of RyR1 and a new dataset of > 2200 suspected RYR1-RM affected individuals we developed a method for assigning pathogenicity probabilities to RYR1 variants based on 3D co-localization of known pathogenic variants. This study provides the rationale for a clinical trial testing Rycals in RYR1-RM affected individuals and introduces a predictive tool for investigating the pathogenicity of RYR1 variants of uncertain significance.

Item does not contain fulltext, In this final chapter, we provide our view on some of the main conclusions that can be drawn from the research on developmental dyslexia across languages. The overarching questions concern how our understanding of reading disability benefits from considering a broad array of languages. If there is a universal biological basis of developmental dyslexia, there should be shared observations on reading disability across languages and writing systems. Or, so one might expect. It is possible, however, that observations of differences in the manifestations of dyslexia - whether subtyping within a language (e.g., phonological vs surface dyslexia) or comparisons across languages (e.g., alphabetic vs morphosyllabic) - reflect some unitary cause or combinations of multiple causes.

Item does not contain fulltext, Although Dutch can be considered a transparent orthography, a substantial number of children in the Netherlands suffer from severe reading and spelling problems. Over the past decades, research has focused on the question of how problems with learning to read and spell in Dutch can best be understood. Importantly, policymakers have recognized the results of ongoing research efforts and protocols are now being followed nationwide for the diagnosis of developmental dyslexia and conduct of interventions.In this chapter, we start with a short introduction to the Dutch language and its orthography. We then review what is known about the processes of learning to read and spell in Dutch as evidenced by research with typical children (see also Verhoeven, 2017). Next, we sketch the historical and cultural context leading up to the identification of problems with learning to read in Dutch and the diagnosis of developmental dyslexia in the Netherlands.

Item does not contain fulltext, Reading involves decoding written language in order to understand it. In learning to read, children implicitly learn how their writing system encodes their spoken language and how they can decode printed words into spoken words to derive meaning (see Verhoeven & Perfetti, 2017). However, many children around the world encounter problems learning to read, fail to develop fluent decoding, and are thus diagnosed as dyslexic. A large body of research supports the conclusion that a phonological deficit underlies most developmental dyslexia. Much of the existing evidence, however, is based on studies of children learning to read in English. It is important to note that English has an opaque orthography that creates challenges beyond those facing children who read more transparent orthographies. In recent years, the research base for developmental dyslexia has broadened across languages, allowing the question of differences and similarities across languages and writing systems to receive attention.

Contains fulltext : 90633.pdf (publisher's version ) (Closed access), This chapter explores the highly contrastive cases of English and Chinese to examine how the neural basis of reading accommodates variability in the structure of languages. The notion of accommodation, in fact, is central to the analysis. It argues that the reading network must accommodate variation in writing systems by organizing in a way that reflects the properties of each particular writing system. The prior state of the network-the organization of the network when there is a previously learned language-influences how the network adapts to those properties specific to a second language. In particular, to some extent, the prior network may assimilate the second language, using its first-language procedures to the extent possible.