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Language problems can be associated with specific genetic syndromes, such as Klinefelter syndrome and fragile X syndrome, even in the absence of intellectual and developmental disabilities. Turner syndrome, a relatively common genetic disorder, is caused by the complete or partial absence of 1 of the 2 X chromosomes typically present in women. The syndrome is characterized by a distinct profile of physical and neuropsychological characteristics. The language characteristics of Turner syndrome have received considerably less attention than other cognitive domains, such as executive function and visual spatial ability. The present article focuses on describing the language and literacy characteristics associated with Turner syndrome, which are generally considered to be areas of relative strength. Related cognitive skills, such as executive function, and clinical implications are also discussed. [ABSTRACT FROM AUTHOR]

Mental retardation is typically associated with substantial delays in language. Researchers have been interested in the possible differences in the extent or nature of these delays across genetic syndromes, such as fragile X, Down, and Williams syndromes. This article addresses how genetic factors and environmental characteristics interact to produce specific language outcomes. We suggest that episodes of joint attention provide a means by which genetic anomalies can have indirect effects on some facets of language development. In doing so, we explain the nature of indirect effects and their influence on development; illustrate the link between joint attention and later language ability; discuss how joint attention may account for the characteristics associated with genetic syndromes, with special attention on fragile X syndrome; and consider implications for intervention. [ABSTRACT FROM AUTHOR]

Objective: The goal of this study was to evaluate symptoms of pediatric feeding disorder in a sample of individuals with 3q29 deletion syndrome (3q29Del). Previous research has found that individuals with 3q29Del may experience elevated feeding concerns in early childhood; however, the specificity of these feeding concerns is not well understood., Methods: We compared individuals with 3q29Del (N = 83) with controls (N = 59) using an 11-item survey that assessed commonly reported symptoms associated with pediatric feeding disorders. An exploratory analysis also examined individuals with 3q29Del with and without a comorbid global developmental delay (GDD) or an autism spectrum disorder diagnosis., Results: Caregivers of 3q29Del cases reported higher incidences of feeding concerns on 10 of the 11 items included in the survey. This included statistically significant differences in food refusal behaviors, rejection of 1 or more food groups, and a history of failure to thrive. Parents of children with comorbid GDD were more likely to report concerns regarding food selectivity and problem behaviors during mealtime., Conclusion: The results suggest individuals with 3q29Del experience increased symptoms of pediatric feeding disorder that may require targeted evaluation and intervention for optimal outcomes. Future research should include a more thorough multidisciplinary evaluation to further elucidate symptom severity and optimal treatment strategies., Competing Interests: Disclosure: The authors declare no conflict of interest., (Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc.)

Objective: Genetic diagnoses are increasingly common in cases of intellectual disability and developmental delay. Although ascertainment of a relatively common, well-studied variant may provide guidance related to treatments and developmental expectations, it is less clear how the diagnosis of a rare variant affects caregivers, especially when the phenotype may include later-onset manifestations such as psychosis. In this study, we sought to identify caregiver concerns in the first qualitative study to assess the psychosocial impact of diagnosis on caregivers of individuals with 3q29 deletion syndrome (3q29Del), which is associated with a 40-fold increase in risk for psychosis., Methods: Participants were recruited from the national 3q29Del registry housed at Emory University (3q29deletion.org). Fifteen participants completed a semistructured phone interview during which they were asked about their experiences before, during, and after their child received a diagnosis of 3q29Del. Interview responses were analyzed using the general inductive approach, and overarching themes were identified., Results: We identified the following overarching themes: difficult "diagnostic odyssey," mixed feelings about diagnosis, frustration with degree of uncertainty, and importance of resources. Importantly, our data suggest that future risk for psychosis is often not disclosed by medical professionals, consistent with the experience of individuals with 22q11.2 deletion syndrome., Conclusions: These results highlight potential gaps in how caregivers are informed of risk for adult-onset conditions and indicate key caregiver concerns for consideration in the diagnosis of 3q29Del., Competing Interests: Disclosure: The authors declare no conflict of interest., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Children with developmental delay are often unable to verbalize pain or advocate for themselves owing to cognitive, motor, or verbal limitations, which puts them at increased risk for poor pain assessment and management. Although patient-controlled analgesia has been shown to be safe, effective, and superior to intermittent opioid dosing, not all children can operate patient-controlled analgesia independently. Parent/nurse-controlled analgesia (PNCA) may be an option for these children. However, the safety and efficacy of PNCA have not been thoroughly evaluated and many practitioners are reluctant to use it., Objectives: The purpose of this study was to evaluate the outcomes associated with PNCA in pediatric patients with identified developmental delay., Methods: A retrospective review of treatment with PNCA was conducted from a convenience sample of charts for 71 children with developmental delay. Data were collected for 72 hours or until the PNCA was discontinued, whichever came first., Results: Mean pain scores were low, as was the amount of opioid required to keep patients comfortable. Side effects, with the exception of oxygen therapy, were similar to previous studies regarding PNCA. Somnolence and respiratory depression leading to the administration of naloxone occurred in 2.8% of patients, and potential causes were identified., Discussion: Pain scores, side effects, and adverse events suggest that PNCA may be an effective method of pain control for children with developmental delay. Diligent monitoring and education are crucial to ensure safety.

The Global Nursing Exchange is a unique, annual opportunity for a select group of nurses to confer with each other and learn in an unstructured, nonrestrictive forum for free uncensored exchange of ideas. It is an unusual "conference" in that both the structure and process have been designed to encourage spontaneity, creativity, and group sharing. Relaxation and work comingle. Networking, dialog, and inclusiveness are operating themes at all times. Started in 1988 by 9 nurses with a mix of backgrounds and experience, the Global Nursing Exchange has expanded to include international participants. In 2003, over 60 nurses joined in celebrating the 15th year of this group gathering. Examples of outcomes that have resulted from this unique "conferencing" experience are described.

Background: Previous studies indicate that a minimal prosthetic valve area index (VAI) of > or = 0.9 cm2/m2 for aortic and > or = 1.3 cm2/m2 for mitral valves minimizes postoperative pressure gradients., Methods and Results: To determine VAI as an independent risk factor for postoperative events, 607 isolated aortic valve replacement (AVR) and 482 isolated mitral valve replacement (MVR) operations with the St Jude Medical valve were studied. End points included hospital deaths, NYHA functional class, late death and late valve-related death, major thromboembolism, anticoagulant-related hemorrhage, and reoperation. VAI was calculated from the ratio of prosthetic valve area to body surface area for each patient, and a range and mean were obtained for each valve size. Follow-up ranged from 1 to 120 months, totaled 2964 patient-years, and was 98% complete. Mean and range of VAI (cm2/m2) were 1.31 (0.74 to 2.86) in the aortic and 2.5 (1.4 to 6.32) in the mitral group. There were 33 AVR (5.4%) and 38 MVR (7.9%) hospital deaths. VAI was not a risk factor for NYHA class, early death, late death, or other postoperative events. The actuarial survival rates, 84% for AVR and 80% for MVR at 5 years, were not affected by VAI., Conclusions: Within the ranges measured, VAI did not influence the end points of the study.