Cystinosis is a recessive genetic metabolic disorder in which the amino acid cystine accumulates in various organs of the body. Previous studies have demonstrated visuospatial dysfunction in children and adults with this disorder. It is not known whether this is a result of the genetic alteration or an accumulation of cystine in the brain over time. This study investigated patterns of performance in 20 young children with cystinosis (4-7 years) and 20 matched controls on the Wechsler Preschool and Primary Scale of Intelligence-Third Edition (WPPSI-III). The children with cystinosis had a mean Full Scale IQ at the low end of the average range. Their overall cognitive functioning was comprised of average verbal abilities, low average non-verbal abilities, and low average processing speed. Multivariate analyses indicated that the cystinosis and control groups were not significantly different on the verbal subtests. In contrast, the cystinosis group performed significantly more poorly than controls on the performance and processing speed subtests. Although overall intellectual function was in the normal range, young children with cystinosis demonstrated a discrepancy such that non-verbal abilities were poorer relative to verbal abilities. This pattern resembles the cognitive profile found previously in older individuals with cystinosis and indicates that the specific cognitive profile emerges early in development. These findings suggest that the cognitive dysfunction in cystinosis is not merely the result of cystine accumulation over time but may be related to differences in brain development as a consequence of alterations or deletions of the cystinosin gene.
The same pattern of visual spatial deficit is present in young children with cystinosis as has previously been demonstrated in older children and adults, which suggests that there may be an influence of the cystinosis gene on brain development, rather than an adverse effect of prolonged cystine accumulation in the brain during childhood.
This research examines women's narratives regarding the experiences that lead to becoming, sustaining, and challenging active community leaders. Seventeen women neighborhood leaders, age 28 to 73 years, completed in-depth interviews. Qualitative thematic content analyses identified prominent themes in participants' responses that were subsequently linked to a generativity framework. Analyses revealed that leaders reported circuitous rather than linear paths of emerging community participation and growing up among others who demonstrated an ethos of care in informal as well as formal community practices. Women's initial community engagement was most often in response to invitations to address community needs. Both communal and agentic rewards and challenges to community involvement were identified. Based upon the findings, strategies for promoting and sustaining women's community leadership are identified.Although there is broad recognition of women's responsibilities and skills in the private domain, women's roles in the public domain of community, nation, and world are less prominent. For example, women's leadership in managing and promoting the growth and development of family and friends is often acknowledged, yet women are routinely underrepresented in formal civic leadership positions around the world. Essentially, this means that the public fails to benefit from the skills and insights that women might otherwise bring to bear on diverse public issues. Moreover, this situation restricts the opportunities to nurture women's skills, interests, and networks that, in turn, foster women's
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