Objective − 17q12 deletion syndrome is a rare genetic disease characterized by neurodevelopmental disorders, genital and renal abnormalities, and maturity-onset diabetes of the young type 5 (MODY5).Case Report − This case report details the case of a 13-year-old female with moderate intellectual disability, Mayer-Rokitansky-Küster-Hauser syndrome, multicystic dysplastic kidneys, and MODY5. Genetic testing revealed a 1.52-megabase heterozygous deletion on chromosome 17q12, encompassing the HNF1B and LHX1 genes, which was found to be inherited from the mother. Conclusion − This case underscores the importance of early genetic testing and multidisciplinary approach in managing the multisystemic manifestations of 17q12 deletion syndrome. Early diagnosis and appropriate management are crucial for improving the outcomes and quality of life for affected individuals.
The purpose of survey questionnaire testing is to ensure that the questionnaire is effective, reliable, and valid research instrument. It should accurately reflect the intended construct and provide stable and consistent results. In recent years, there has been a growing emphasis on the importance of survey questionnaire testing; however, relatively little methodological research and guidance about testing methods is provided. Our goal is to present the methods available for questionnaire testing in brief and give some advice on how to use them.Conclusion – Testing a survey questionnaire before its deployment is crucial in ensuring the data's accuracy and consistency. There are various testing methods available that address the content and technical quality of the research instrument.
Objective − The aim of this study is to raise awareness about External Occipital Protuberance (EOP) enlargement in children, its typically benign anatomical variant, and the importance of considering associated conditions in diagnosis and management.Case Report − We reviewed the cases of four male patients, presenting with EOP enlargement. Among the cases, one involved a newborn diagnosed with Menkes disease, a rare genetic disorder affecting copper transport, which was associated with occipital exostosis. The other three cases involved adolescents with varying degrees of EOP enlargement, linked to factors such as prior trauma and excessive screen time. Conclusion − While EOP enlargement is generally a benign anatomical variant, this study underscores the importance of differential diagnosis, particularly in the pediatric population. Clinicians should be aware of the potential, albeit rare, associations with serious conditions such as Menkes disease. A comprehensive approach to diagnosis and management is recommended, especially in symptomatic cases.
Objectives − Type 1 Diabetes Mellitus (DM1) requires demanding treatment in order to achieve good metabolic control. Our aim was to assess whether either method of insulin administration (multiple daily administrations of insulin analogues (MDIA) or continuous subcutaneous insulin infusion (CSII)) is associated with better health-related quality of life (HRQoL).Methods − We conducted a cross-sectional study. Patients aged 10-18 years with a disease duration of at least six months were included. HRQoL was assessed by having patients and their caregivers complete the DISABKIDS-37 questionnaire.Results − Of the 40 patients included, 22 (55%) had CSII. There were no statistically significant differences between subscale scores and overall HRQoL between patients or between parents of patients with CSII or MDIA. CSII patients and parents scored better on all subscales and on the total scale, although without statistically significant differences. There were no statistically significant differences in the subscale scores and overall HRQoL reported by the patients and their parents, but there was a strong correlation between the children’s and parents’ scores (R=0.770; P<0.01), which was similar in patients with CSII or MDIA (R=0.735 vs R=0.790).Conclusion − Although we did not identify statistically significant differences, there was a trend towards a better HRQoL associated with the use of CSII, both from the perspective of the adolescents and their parents. This could influence therapeutic choice. Consistency between the assessments of adolescents and their carers was observed. The choice between MDIA and CSII should be based on individual preferences in order to optimize the HRQoL of adolescents with DM1.
Objectives − This study examined perceived changes in diabetes management among adolescents with type 1 diabetes as they transition from childhood to adolescence, focusing on self-management, parental involvement, physical activity, and treatment reflections.Patients and Methods − Qualitative description employing individual semi-structured interviews was utilized with 19 adolescents. Interview data were processed using a content analysis approach.Results − Most adolescents managed their diabetes independently, drawing from years of experience. While some adhered to medical advice, others made independent decisions, prioritizing convenience, or habits. Parental roles varied, from regular supervision to granting autonomy. Many adolescents appreciated parental support, feeling it provided security, though some experienced it as overbearing or insufficient. They had increased independence in managing their diabetes as they grew older. Acceptance of the disease improved with time, aided by technological advancements. Challenges included increased insulin needs and food intake during adolescence, but overall, they felt more confident and responsible in self-management. Despite advancements in technology, practical challenges persist in managing diabetes during physical activity.Conclusion − Adolescents with diabetes generally develop effective self-management skills and appreciate increasing autonomy, though adherence to medical advice varies. Continued parental support and advanced diabetes technologies play crucial roles in their management. Personalized treatment and balanced parental involvement are needed to increase adherence.
