RESUMO
Genetic testing for non-specific intellectual disability (ID) presents challenges in daily clinical practice. Historically, the focus of the genetic elucidation of non-specific ID has been on genes on the X chromosome, and recent research has brought attention to the growing contribution of autosomal genes. In addition, next-generation sequencing (NGS) has greatly improved the ability to simultaneously analyze multiple genetic loci, making large panel testing a practical approach to testing for non-specific ID. We performed NGS analysis of a total of 90 genes implicated in non-specific ID. The 90 genes included 56 X-linked genes and 34 autosomal genes. Pathogenic variants were identified in 11 of 52 (21%) patient samples. Nine of the eleven cases harbored mutations in autosomal genes including AP4B1, STXB1, SYNGAP1, TCF4 and UBE3A. Our mutation-positive cases provide further evidence supporting the prevalence of autosomal mutations in patients referred for non-specific ID testing and the utility of their inclusion in multi-gene panel analysis.
RESUMO
Whilst the use of information technology is increasing in importance as an aid to speech and language therapy, its introduction has so far been unsystematic. Systems analysis methodologies for assessing how information technology can best be employed have been developed for use in the business world. The present study used one such methodology--Checkland's soft systems--to investigate which aspects of the activities of one language unit were most likely to be improved or helped by the introduction of new technology. Such an approach was found to yield useful insights and several opportunities for increased computer use were revealed. However, it was also concluded that, to take maximum advantage of new technology, changes would need to be introduced and resources made available at a higher organisational level than that of the individual unit or department.