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871.
872.
Inborn errors of metabolism (IEM) include a broad spectrum of defects of various gene products that affect intermediary metabolism in the body. Studying the molecular and biochemical mechanisms of those inherited disorder, systematically summarizing the disease phenotype and natural history, providing diagnostic rationale and methodology and treatment strategy comprise the context of human biochemical genetics. This session focused on: (1) manifestations of representative metabolic disorders; (2) the emergent technology and application of newborn screening of metabolic disorders using tandem mass spectrometry; (3) principles of managing IEM; (4) the concept of carrier testing aiming prevention. Early detection of patients with IEM allows early intervention and more options for treatment. 相似文献
873.
874.
Doulas, women who primarily provide social support during childbirth, have been associated with a number of positive health outcomes. Because the primary model of practice for doulas is a fee-for-service model in which families privately hire a doula, many expectant women who could benefit from doula support are unable to access the service. The Doulas Care program, located in Ann Arbor, Michigan, represents one model in which doulas provide services without charge. As a result of their extended role in the community, doulas who work with the Doulas Care program have unique educational needs. Through the use of focus groups with the program's volunteer doulas, educational needs related to overcoming barriers to being a doula working in the community were identified. Recommendations for education and training are made to improve the support doulas offer as community health outreach workers. 相似文献
875.
Nine children with severe-profound prelingual hearing loss and single-word reading scores not more than 10 months behind chronological age (Good Readers) were matched with 9 children whose reading lag was at least 15 months (Poor Readers). Good Readers had significantly higher spelling and reading comprehension scores. They produced significantly more phonetic errors (indicating the use of phonological coding) and more often correctly represented the number of syllables in spelling than Poor Readers. They also scored more highly on orthographic awareness and were better at speech reading. Speech intelligibility was the same in the two groups. Cluster analysis revealed that only three Good Readers showed strong evidence of phonetic coding in spelling although seven had good representation of syllables; only four had high orthographic awareness scores. However, all 9 children were good speech readers, suggesting that a phonological code derived through speech reading may underpin reading success for deaf children. 相似文献
876.
The study examined the role of sign language and fingerspelling in the development of the reading and writing skills of deaf children and youth. Twenty-six deaf participants (13 children, 13 adolescents), whose first language was Chilean Sign Language (CHSL), were examined. Their dactylic abilities were evaluated with tasks involving the reading and writing of dactylic and orthographic codes. The study included three experiments: (a) the identification of Chilean signs and fingerspelled words, (b) the matching of fingerspelled words with commercial logos, and (c) the decoding of fingerspelled words and the mapping of these words onto the writing system. The results provide convergent evidence that the use of fingerspelling and sign language is related to orthographic skills. It is concluded that fingerspelling can facilitate the internal representation of words and serve as a supporting mechanism for reading acquisition. 相似文献
877.
Four-month-old infants were habituated with an upright or an upside-down face. Eye-movement recordings showed that the upright and upside-down faces were not explored the same way. Infants spent more time exploring internal features, mainly in the region of the nose and mouth, when the face was upright. They also alternated as frequently between the face's internal features (eyes vs. nose/mouth) as between external and internal features. When the face was upside down, the infants spent half of their time exploring external features, and preferentially alternated between external features and internal features. The main effect of inversion was a decrease of the looking time to the nose/mouth region and of the number of shifts between the eye region and the nose/mouth region. 相似文献
878.
OBJECTIVE: The aim of this study was to examine the impact of childhood sexual abuse (CSA) on clinical characteristics and premature termination of treatment in anorexia nervosa (AN). METHOD: The participants were 77 consecutive patients with AN admitted to an inpatient eating disorders unit. The patients were assessed in terms of eating disorder symptoms, general psychopathology, and CSA history at admission to hospital. RESULTS: Thirty-seven patients (48%) reported a history of CSA before the onset of the eating disorder. Individuals with a history of CSA reported significantly greater psychiatric comorbidity, including higher levels of depression and anxiety, lower self-esteem, more interpersonal problems, and more severe obsessive-compulsive symptoms. Patients with the binge-purge subtype of AN (AN-BP) were significantly more likely to report a history of CSA prior to the onset of the eating disorder as compared with patients with the restricting subtype (AN-R) of the illness (65% of the AN-BP patients vs. 37% of the AN-R patients; p<.02). Contrary to our predictions, abused patients were not significantly more likely to dropout of treatment overall. However, patients of the binge-purge subtype (AN-BP) with a history of CSA were significantly more likely to terminate treatment prematurely as compared with the other patients. CONCLUSIONS: Consistent with previous findings, the present results indicate that the prevalence of CSA is high among individuals seeking inpatient treatment for AN. A history of CSA was associated with greater psychiatric disturbance overall and a higher rate of dropout for patients of the binge-purge subtype. 相似文献
879.
Ginzburg K Arnow B Hart S Gardner W Koopman C Classen CC Giese-Davis J Spiegel D 《Child abuse & neglect》2006,30(8):929-943
OBJECTIVE: To evaluate the psychometric properties of a new measure, the Abuse-Related Beliefs Questionnaire (ARBQ), designed to assess abuse-related beliefs among adult survivors of childhood sexual abuse (CSA). Study 1 examined the structure of the scale, and Study 2 evaluated its reliability and validity. METHOD: One hundred and seventy female CSA survivors recruited into a group psychotherapy intervention study were administered the ARBQ in Study 1. A subsample of 45 women completed the ARBQ again 12 months later. In Study 2, 70 women from a health maintenance organization who identified themselves as survivors of CSA completed the ARBQ along with the Trauma Symptom Checklist-40 (TSC-40) and the Symptom Checklist 90R (SCL-90-R). RESULTS: Three reliable ARBQ subscales emerged in Study 1: Guilt, Shame, and Resilience. Twelve-month test-retest reliability was high (r=.60-.64). The internal consistency of the subscales was further supported in Study 2, and validity was demonstrated by moderate to high correlations with the distress measures. CONCLUSIONS: The results indicate that the ARBQ has good psychometric characteristics, supporting the feasibility of its use in measuring abuse-related beliefs in research on survivors of CSA. A next step for validation of the ARBQ would be to evaluate its sensitivity in measuring changes in studies of interventions for treating CSA survivors. 相似文献
880.