Children\u27s Voices: Perspectives on Using Assistive Technology

Rarely are the views of children with learning disabilities elicited. In this study, we used focus groups involving eight students with learning disabilities to explore their self-perceptions as learners and writers using assistive technology (AT). Three groups of two to three Grade 4–8 students and their parents participated in the qualitative study. Both student and parent responses provided data for thematic analysis that resulted in three themes: (a) changes in students’ self-perceptions as learners; (b) student and parental self-reported benefits of using assistive technology; and (c) inconsistencies in approaches to using assistive technology in schools. The implications for education are greater attention to the views of elementary school children; greater focus on the use of AT in the classroom; and greater AT training for teachers in order to better support the use of AT by students with LD

Children's Voices: Perspectives on Using Assistive Technology

Rarely are the views of children with learning disabilities elicited. In this study, we used focus groups involving eight students with learning disabilities to explore their self-perceptions as learners and writers using assistive technology (AT). Three groups of two to three Grade 4–8 students and their parents participated in the qualitative study. Both student and parent responses provided data for thematic analysis that resulted in three themes: (a) changes in students’ self-perceptions as learners; (b) student and parental self-reported benefits of using assistive technology; and (c) inconsistencies in approaches to using assistive technology in schools. The implications for education are greater attention to the views of elementary school children; greater focus on the use of AT in the classroom; and greater AT training for teachers in order to better support the use of AT by students with LD

CIAO1 and MMS19 de fi ciency : A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

Purpose: The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority of Mendelian diseases. Here, we describe the first 2 inherited disorders of the cytosolic iron-sulfur protein assembly system. Methods: Genetic testing via genome sequencing was applied to identify the underlying disease cause in 3 patients with microcephaly, congenital brain malformations, progressive developmental and neurologic impairments, recurrent infections, and a fatal outcome. Studies in patient-derived skin fibroblasts and zebrafish models were performed to investigate the biochemical and cellular consequences. Results: Metabolic analysis showed elevated uracil and thymine levels in body fluids but no pathogenic variants in DPYD, encoding dihydropyrimidine dehydrogenase. Genome sequencing identified compound heterozygosity in 2 patients for missense variants in CIAO1, encoding cytosolic iron-sulfur assembly component 1, and homozygosity for an in-frame 3-nucleotide deletion in MMS19, encoding the MMS19 homolog, cytosolic iron-sulfur assembly component, in the third patient. Profound alterations in the proteome, metabolome, and lipidome were observed in patient-derived fibroblasts. We confirmed the detrimental effect of deficiencies in CIAO1 and MMS19 in zebrafish models. Conclusion: A general failure of cytosolic and nuclear iron-sulfur protein maturation caused pleiotropic effects. The critical function of the cytosolic iron-sulfur protein assembly machinery for antiviral host defense may well explain the recurrent severe infections occurring in our patients. (c) 2024 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/)