6 research outputs found
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An Exploratory Study of Physical Phenotype, Biomarkers and Psychosocial Health Parameters in Boys with Klinefelter Syndrome
Klinefelter Syndrome (KS) is a genetic condition that occurs only in males. In adult men, KS is associated with reproductive, cardiometabolic, bone and psychosocial health problems that are believed to emerge during peri-puberty. In children, the condition is under-diagnosed and not well understood due to the wide-ranging spectrum of physical features. Although pediatric studies are rare, androgen deficiency is believed to underlie many of the KS-related abnormalities in both physical and emotional well-being. The purpose of this dissertation was to systematically describe the physical and psychosocial health of peri-pubertal boys with KS. Aim I of the study was to explore associations between physical and psychosocial health while Aim II explored body composition and bone mineral density. For Aim I, a cross-sectional exploratory study examining the associations between physical phenotype, reproductive hormones, cardiometabolic risk factors, and psychosocial health was conducted in a sample of 43 boys with KS between the ages of 8 and 18 years. Physical examination, laboratory and self-administered psychosocial health data were analyzed using descriptive statistics and univariate and multivariate linear regression techniques. For Aim II, a retrospective chart review examining body composition and bone mineral density (BMD) was conducted of 20 KS patients ages 8-18 years who attended a pediatric endocrine practice at a Columbia University-affiliated hospital. Aim I participants demonstrated a range of physical phenotype features. On average, boys showed at least 5 KS physical traits. Gonadotropins were elevated without androgen deficiency in most boys. Adverse cardiovascular risk factors were observed in about a third of the boys with higher frequency in pubertal boys. Quality of life and self-esteem scores were low compared to reference standards; average scores for self-concept and depression were within the normal range. Physical phenotype was inversely associated with quality of life, but not with the other measures of psychosocial health. Low testosterone was associated with interpersonal problem subscale of the Children's Depression Inventory, but not for other psychosocial measures. Serum testosterone was not associated with cardiometabolic biomarkers. For Aim II, boys with KS demonstrated a higher mean body fat by Dual Energy Xray Aborptiometry (DEXA) compared to a healthy reference group and overall mean normal lumbar spine BMD. Four of the oldest boys demonstrated lower BMD than expected for age. Findings from this study suggest that in peri-pubertal boys with KS, phenotype may adversely influence quality of life especially with respect to school and physical function. The adverse psychosocial health of boys with KS may not be related to androgen deficiency. Biomarkers of cardiometabolic risk were most evident in pubertal boys. Testosterone does not appear to be a main mediating factor in cardiometabolic risk in this age group. KS boys may have increased fat as measured by DEXA and normal BMD. The onset of bone loss present in KS men may begin in late adolescence. The implications from this study include recommendations that primary care providers and developmental specialists become more familiar with the clinical pattern of KS as represented by physical, hormonal as well as behavioral signs and symptoms. In primary care, it is recommended that complete genital examination including testicular volume measurement be conducted during well-child visits and that karyotype be ordered on boys who show a high index of suspicion for this diagnosis. A multidisciplinary team-approach for management KS-related symptoms needs to be created for each child and family affected by KS with integration of services between pediatrician, endocrinologist, developmental, psychological and school specialists. It is also recommended that boys with KS be referred for baseline bone mineral assessment during adolescence
Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review
Abstract Background The diagnosis of supernumerary X & Y chromosome variations has increased following the implementation of genetic testing in pediatric practice. Empirical evidence suggests that the delivery of the diagnosis has a lasting impact on how affected individuals and their parents perceive and adapt to the diagnosis. The purpose of this review is to synthesize the literature to obtain useful recommendations for delivering a pediatric diagnosis of a sex chromosome multisomy (SCM) based upon a growing body of quantitative and qualitative literature on patient experiences. Methods We conducted an integrative literature review using PubMed, Web of Science and CINAHL employing keywords “genetic diagnosis delivery,” “genetic diagnosis disclosure,” “sex chromosome aneuploidy,” “Klinefelter syndrome” or “”47, XXY,” “Jacob syndrome” or “47, XYY,” “Trisomy X,” “Triple X” or “47, XXX,” and “48 XXYY from January 1, 2000, to October 31, 2023. Results Literature supports that patients and parents value the provision of up-to-date information and connection with supportive resources. Discussion of next steps of care, including relevant referrals, prevents perceptions of provider abandonment and commitment to ongoing support. Proactively addressing special concerns such as disclosing the diagnosis to their child, family, and community is also beneficial. Tables are provided for useful information resources, medical specialties that may be required to support patients, and common misconceptions that interfere with accurate information about the diagnosis. Conclusion Patient experiences suggest there should be heightened attention to diagnosis delivery, in reference to the broader ethical and social impacts of a SCM diagnosis. We present recommendations for optimal disclosure of a SCM diagnosis in early and late childhood, adolescence, and young adulthood
Additional file 1 of Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review
Supplementary Material 1
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A mixed-method approach to generate and deliver rapid-cycle evaluation feedback: Lessons learned from a multicenter implementation trial in pediatric surgery
Background: Rapid-cycle feedback loops provide timely information and actionable feedback to healthcare organizations to accelerate implementation of interventions. We aimed to (1) describe a mixed-method approach for generating and delivering rapid-cycle feedback and (2) explore key lessons learned while implementing an enhanced recovery protocol (ERP) across 18 pediatric surgery centers. Methods: All centers are members of the Pediatric Surgery Research Collaborative (PedSRC, www.pedsrc.org), participating in the ENhanced Recovery In CHildren Undergoing Surgery (ENRICH-US) trial. To assess implementation efforts, we conducted a mixed-method sequential explanatory study, administering surveys and follow-up interviews with each center's implementation team 6 and 12 months following implementation. Along with detailed notetaking and iterative discussion within our team, we used these data to generate and deliver a center-specific implementation report card to each center. Report cards used a traffic light approach to quickly visualize implementation status (green = excellent; yellow = needs improvement; red = needs significant improvement) and summarized strengths and opportunities at each timepoint. Results: We identified several benefits, challenges, and practical considerations for assessing implementation and using rapid-cycle feedback among pediatric surgery centers. Regarding potential benefits, this approach enabled us to quickly understand variation in implementation and corresponding needs across centers. It allowed us to efficiently provide actionable feedback to centers about implementation. Engaging consistently with center-specific implementation teams also helped facilitate partnerships between centers and the research team. Regarding potential challenges, research teams must still allocate substantial resources to provide feedback rapidly. Additionally, discussions and consensus are needed across team members about the content of center-specific feedback. Practical considerations include carefully balancing timeliness and comprehensiveness when delivering rapid-cycle feedback. In pediatric surgery, moreover, it is essential to actively engage all key stakeholders (including physicians, nurses, patients, caregivers, etc.) and adopt an iterative, reflexive approach in providing feedback. Conclusion: From a methodological perspective, we identified three key lessons: (1) using a rapid, mixed method evaluation approach is feasible in pediatric surgery and (2) can be beneficial, particularly in quickly understanding variation in implementation across centers; however, (3) there is a need to address several methodological challenges and considerations, particularly in balancing the timeliness and comprehensiveness of feedback. Trial registration: NIH National Library of Medicine Clinical Trials. Clinicaltrials.gov Identifier: NCT04060303. Registered August 7, 2019, https://clinicaltrials.gov/ct2/show/NCT04060303</p