Shwachman-Diamond syndrome (SDS) is

Two studies examined whether the number of errors made in learning a motor skill, golf putting, differentially influences the adoption of a selective (explicit) or unselective (implicit) learning mode. Errorful learners were expected to adopt an explicit, hypothesis-testing strategy to correct errors during learning, thereby accruing a pool of verbalizable rules and exhibiting performance breakdown under dual-task conditions, characteristic of a selective mode of learning. Reducing errors during learning was predicted to minimize the involvement of explicit hypothesis testing leading to the adoption of an unselective mode of learning, distinguished by few verbalizable rules and robust performance under secondary task loading. Both studies supported these predictions. The golf putting performance of errorless learners in both studies was unaffected by the imposition of a secondary task load, whereas the performance of errorful learners deteriorated. Reducing errors during learning limited the number of error-correcting hypotheses tested by the learner, thereby reducing the contribution of explicit processing to skill acquisition. It was concluded that the reduction of errors during learning encourages the use of implicit, unselective learning processes, which confer insusceptibility to performance breakdown under distraction.

Two studies examined whether the number of errors made in learning a motor skill, golf putting, differentially influences the adoption of a selective (explicit) or unselective (implicit) learning mode. Errorful learners were expected to adopt an explicit, hypothesis-testing strategy to correct errors during learning, thereby accruing a pool of verbalizable rules and exhibiting performance breakdown under dual-task conditions, characteristic of a selective mode of learning. Reducing errors during learning was predicted to minimize the involvement of explicit hypothesis testing leading to the adoption of an unselective mode of learning, distinguished by few verbalizable rules and robust performance under secondary task loading. Both studies supported these predictions. The golf putting performance of errorless learners in both studies was unaffected by the imposition of a secondary task load, whereas the performance of errorful learners deteriorated. Reducing errors during learning limited the number of error-correcting hypotheses tested by the learner, thereby reducing the contribution of explicit processing to skill acquisition. It was concluded that the reduction of errors during learning encourages the use of implicit, unselective learning processes, which confer insusceptibility to performance breakdown under distraction.

AIM Our aims were to (1) describe the conceptual basis of popular generic instruments according to World Health Organization (WHO) definitions of functioning, disability, and health (FDH), and quality of life (QOL) with health-related quality of life (HRQOL) as a subcomponent of QOL; (2) map the instruments to the International Classification of Functioning, Disability and Health (ICF); and (3) provide information on how the analyzed instruments were used in the literature. This should enable users to make valid choices about which instruments have the desired content for a specific context or purpose.METHOD Child health-based literature over a 5-year period was reviewed to find research employing health status and QOL ⁄ HRQOL instruments. WHO definitions of FDH and QOL were applied to each item of the 15 most used instruments to differentiate measures of FDH and QOL ⁄ HRQOL. The ICF was used to describe the health and health-related content (if any) in those instruments. Additional aspects of instrument use were extracted from these articles. RESULTSMany instruments that were used to measure QOL ⁄ HRQOL did not reflect WHO definitions of QOL. The ICF domains within instruments were highly variable with respect to whether body functions, activities and participation, or environment were emphasized.INTERPRETATION There is inconsistency among researchers about how to measure HRQOL and QOL. Moreover, when an ICF content analysis is applied, there is variability among instruments in the health components included and emphasized. Reviewing content is important for matching instruments to their intended purpose.The effectiveness of health programmes and interventions has traditionally been decided by clinicians, administrators, researchers, and policy makers with little input from patients. [1][2][3][4] With more children living with chronic, episodic, or progressive health conditions, 5,6 health professionals need to assess the impact of care on day-to-day life, rather than restrict measurement to biomedical issues, such as morbidities, that might not resolve. 7 In parallel, health care resources are becoming an increasingly precious commodity around the world and difficult decisions need to be made about the focus and allocation of health services. 8 The impact of these services as reported by children and their families can provide insight that can help with these difficult decisions.Scaled questionnaires that assess health, health-related quality of life (HRQOL), and quality of life (QOL) are valuable tools for capturing child and parent experiences. When these validated questionnaires are administered directly to children or their families without clinicians, they are called patientreported outcomes (PROs). 9 Patient-reported outcome instruments are essential patient appraisal tools, but they are often developed and implemented without a firm conceptual basis or a clear definition of what they are intended to measure. Many PROs were developed before there was clarity in the literature on what constituted function...

The development of a set of everyday, nonverbal, digitized sounds for use in auditory confrontation naming applications is described. Normative data are reported for 120 sounds of varying lengths representing a wide variety of acoustic events such as sounds produced by animals, people, musical instruments, tools, signals, and liquids. In Study 1, criteria for scoring naming accuracy were developed and rating data were gathered on degree of confidence in sound identification and the perceived familiarity, complexity, and pleasantness of the sounds. In Study 2, the previously developed criteria for scoring naming accuracy were applied to the naming responses of a new sample of subjects, and oral naming times were measured. In Study 3 data were gathered on how subjects categorized the sounds: In the first categorization task - free classification - subjects generated category descriptions for the sounds; in the second task - constrained classification - a different sample of subjects selected the most appropriate category label for each sound from a list of 27 labels generated in the first task. Tables are provided in which the 120 stimuli are sorted by familiarity, complexity, pleasantness, duration, naming accuracy, speed of identification, and category placement. The. WAV sound files are freely available to researchers and clinicians via a sound archive on the World Wide Web; the URL is http://www.cofc.edu/~marcellm/confront.htm.

The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present a multicohort genome-wide association study (GWAS) of five traits assessed individually using psychometric measures (word reading, nonword reading, spelling, phoneme awareness, and nonword repetition) in samples of 13,633 to 33,959 participants aged 5 to 26 y. We identified genome-wide significant association with word reading (rs11208009, P = 1.098 × 10 −8 ) at a locus that has not been associated with intelligence or educational attainment. All five reading-/language-related traits showed robust SNP heritability, accounting for 13 to 26% of trait variability. Genomic structural equation modeling revealed a shared genetic factor explaining most of the variation in word/nonword reading, spelling, and phoneme awareness, which only partially overlapped with genetic variation contributing to nonword repetition, intelligence, and educational attainment. A multivariate GWAS of word/nonword reading, spelling, and phoneme awareness maximized power for follow-up investigation. Genetic correlation analysis with neuroimaging traits identified an association with the surface area of the banks of the left superior temporal sulcus, a brain region linked to the processing of spoken and written language. Heritability was enriched for genomic elements regulating gene expression in the fetal brain and in chromosomal regions that are depleted of Neanderthal variants. Together, these results provide avenues for deciphering the biological underpinnings of uniquely human traits.

The PeNAT is a new instrument that can be used by children to assess nausea intensity.

Reading disabilities (RDs) have been associated with chromosome 6p with recent studies pointing to two genes, DCDC2 and KIAA0319. In this study, markers across the 6p region were tested for association with RD. Our strongest findings were for association with markers in KIAA0319, although with the opposite alleles compared with a previous study. We also found association with markers in VMP, but not with DCDC2. Current evidence indicates that differential regulation of KIAA0319 and DCDC2 contributes to RD, thus we used chromatin immunoprecipitation coupled with genomic tiling arrays (ChIP‐chip) to map acetylated histones, a molecular marker for regulatory elements, across a 500 kb genomic region covering the RD locus on 6p. This approach identified several regions marked by acetylated histones that mapped near associated markers, including intron 7 of DCDC2 and the 5′ region of KIAA0319. The latter is located within the 70 kb region previously associated with differential expression of KIAA0319. Interestingly, five markers associated with RD in independent studies were also located within the 2.7 kb acetylated region, and six additional associated markers, including the most significant one in this study, were located within a 22 kb haplotype block that encompassed this region. Our data indicates that this putative regulatory region is a likely site of genetic variation contributing to RD in our sample, further narrowing the candidate region. © 2009 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc.