Effectiveness of a Metacognitive Shopping Intervention for Adults with Intellectual Disability Secondary to Down Syndrome

Background: The purpose of this study was to examine the effects of a metacognitive strategy-training intervention on the shopping performance of adults with intellectual disability secondary to Down syndrome. Method: A single subject ABA design across six participants was employed and included a 2-week baseline data collection period, followed by an 8-week intervention phase, and a 2-week follow-up data collection period 1 month after intervention end. Time, frequency, and level of assistance required by the participants to demonstrate targeted shopping skills were measured during baseline, intervention, and follow-up probe phases. Results: As a group, the participants experienced statistically significant improvements in time (x2 = 144.25, px2 = 38.00, px2 = 207.08, pZ = -8.50, pd = 0.92), frequency (Z = -4.07, pd = -2.60), and level of assistance (Z = -9.39, pd = -2.44). Results calculated for individual participant performance mirrored group results. Conclusion: The findings of this study suggest that the intervention effectively improved the participants’ shopping performance. Further research is warranted

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

The complete sequence of a human Y chromosome.

The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications1-3. As a result, more than half of the Y chromosome is missing from the GRCh38 reference sequence and it remains the last human chromosome to be finished4,5. Here, the Telomere-to-Telomere (T2T) consortium presents the complete 62,460,029-base-pair sequence of a human Y chromosome from the HG002 genome (T2T-Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of sequence to the reference, showing the complete ampliconic structures of gene families TSPY, DAZ and RBMY; 41 additional protein-coding genes, mostly from the TSPY family; and an alternating pattern of human satellite 1 and 3 blocks in the heterochromatic Yq12 region. We have combined T2T-Y with a previous assembly of the CHM13 genome4 and mapped available population variation, clinical variants and functional genomics data to produce a complete and comprehensive reference sequence for all 24 human chromosomes