المؤلفون: Mahmoud, Ranim, Swanson, Heidi D, Butler, Merlin G, Flodman, Pamela, Gold, June-Anne, Miller, Jennifer L, Roof, Elizabeth, Osann, Kathryn, Dykens, Elisabeth, Driscoll, Daniel J, Kimonis, Virginia

المصدر: Journal of Clinical Medicine. 11(9)

مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Behavioral and Social Science, Violence Research, Brain Disorders, Pediatric, Clinical Research, Mental Health, Basic Behavioral and Social Science, Obesity, Rare Diseases, Prader-Willi syndrome, behavior, genetic subtypes, growth hormone, Prader–Willi syndrome, Clinical Sciences, Biomedical and clinical sciences

الوصف: Prader-Willi syndrome (PWS) is a complex genetic disorder with three genetic classes. Patients with PWS are characterized by severe hypotonia, developmental delay, behavioral problems, learning disabilities and morbid obesity in early childhood if untreated. Data were collected through Rare Disease Clinical Research Network (RDCRN) from four study centers which evaluated patients with PWS. The Behavior Assessment System for Children 2nd edition (BASC-2) was chosen to provide behavioral assessment. Data from 330 participants ((64% 15q11-q13 deletion (DEL), 36% maternal disomy 15 (UPD)) were separated into three age groups and analyzed, 68% of whom were still actively receiving recombinant human growth hormone (rhGH) treatment. When comparing the BASC results by molecular subtype, parent-reported aggression was higher for the deletion than for the UPD cohort (p = 0.007). Participants who were on rhGH treatment showed lower scores for parent-reported hyperactivity and aggression (p = 0.04, 0.04, respectively), and a trend for anger control (p = 0.06) and teacher-reported attention problems and aggression (p = 0.01, 0.004, respectively). Additional adjusted analyses were undertaken and significant differences were noted in the GH versus non-GH treated groups for only teacher-reported aggression, which increased in the No GH treated patient group (p = 0.03). This study showed documented differences in PWS behavior by molecular class and rhGH treatment. RhGH therapy may be beneficial for certain behaviors in patients with PWS; however, observed differences need more studies for confirmation in the future.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1s27w3bwTest

المؤلفون: Veatch, Olivia J, Malow, Beth A, Lee, Hye-Seung, Knight, Aryn, Barrish, Judy O, Neul, Jeffrey L, Lane, Jane B, Skinner, Steven A, Kaufmann, Walter E, Miller, Jennifer L, Driscoll, Daniel J, Bird, Lynne M, Butler, Merlin G, Dykens, Elisabeth M, Gold, June-Anne, Kimonis, Virginia, Bacino, Carlos A, Tan, Wen-Hann, Kothare, Sanjeev V, Peters, Sarika U, Percy, Alan K, Glaze, Daniel G

مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Neurosciences, Lung, Pediatric, Rare Diseases, Behavioral and Social Science, Intellectual and Developmental Disabilities (IDD), Genetics, Mental Health, Clinical Research, Sleep Research, Neurodegenerative, Brain Disorders, Adolescent, Angelman Syndrome, Child, Child, Preschool, Humans, Neurodevelopmental Disorders, Prader-Willi Syndrome, Rett Syndrome, Sleep Wake Disorders, Pediatric sleep, Rare disease, Genetic syndromes, Neurodevelopment, Paediatrics and Reproductive Medicine, Neurology & Neurosurgery, Paediatrics

الوصف: BackgroundAdequate sleep is important for proper neurodevelopment and positive health outcomes. Sleep disturbances are more prevalent in children with genetically determined neurodevelopmental syndromes compared with typically developing counterparts. We characterize sleep behavior in Rett (RTT), Angelman (AS), and Prader-Willi (PWS) syndromes to identify effective approaches for treating sleep problems in these populations. We compared sleep-related symptoms across individuals with these different syndromes with each other, and with typically developing controls.MethodsChildren were recruited from the Rare Diseases Clinical Research Network consortium registries; unaffected siblings were enrolled as related controls. For each participant, a parent completed multiple sleep questionnaires including Pediatric Sleep Questionnaire (Sleep-Disordered Breathing), Children's Sleep Habits Questionnaire (CSHQ), and Pediatric Daytime Sleepiness Scale.ResultsSleep data were analyzed from 714 participants, aged two to 18 years. Young children with AS had more reported sleep problems than children with RTT or PWS. Older children with RTT had more reported daytime sleepiness than those with AS or PWS. Finally, all individuals with RTT had more evidence of sleep-disordered breathing when compared with individuals with PWS. Notably, typically developing siblings were also reported to have sleep problems, except for sleep-related breathing disturbances, which were associated with each of the genetic syndromes.ConclusionsIndividuals with RTT, AS, and PWS frequently experience sleep problems, including sleep-disordered breathing. Screening for sleep problems in individuals with these and other neurogenetic disorders should be included in clinical assessment and managements. These data may also be useful in developing treatment strategies and in clinical trials.

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الوصول الحر: https://escholarship.org/uc/item/6zx0t3drTest

المؤلفون: Varni, James W, Delamater, Alan M, Hood, Korey K, Driscoll, Kimberly A, Wong, Jenise C, Adi, Saleh, Yi‐Frazier, Joyce P, Grishman, Ellen K, Faith, Melissa A, Corathers, Sarah D, Kichler, Jessica C, Miller, Jennifer L, Raymond, Jennifer K, Doskey, Elena M, Aguirre, Vincent, Heffer, Robert W, Wilson, Don P, Consortium, on behalf of the Pediatric Quality of Life Inventory 32 Diabetes Module Testing Study

المصدر: Pediatric Diabetes. 19(7)

مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Clinical Sciences, Health Services, Behavioral and Social Science, Prevention, Pediatric, Clinical Research, Diabetes, Management of diseases and conditions, 7.1 Individual care needs, Metabolic and endocrine, Adolescent, Diabetes Mellitus, Type 1, Disease Management, Factor Analysis, Statistical, Female, Health Communication, Humans, Male, Quality of Life, Surveys and Questionnaires, Treatment Adherence and Compliance, Young Adult, health-related quality of life, patient-reported outcomes, pediatrics, PedsQL, self-management, symptoms, type 1 diabetes, Pediatric Quality of Life Inventory 3.2 Diabetes Module Testing Study Consortium, Paediatrics and Reproductive Medicine, Endocrinology & Metabolism, Clinical sciences

الوصف: ObjectivesThe primary objective was to investigate the mediating effects of diabetes management in the relationship between diabetes symptoms and generic health-related quality of life (HRQOL) in adolescents and young adults (AYAs) with type 1 diabetes. The secondary objective explored patient health communication and perceived treatment adherence barriers as mediators in a serial multiple mediator model.MethodsThe PedsQL 3.2 Diabetes Module 15-item diabetes symptoms summary score, 18-item diabetes management summary score, and PedsQL 4.0 generic core scales were completed in a 10-site national field test study by 418 AYA aged 13 to 25 years with type 1 diabetes. Diabetes symptoms and diabetes management were tested for bivariate and multivariate linear associations with overall generic HRQOL. Mediational analyses were conducted to test the hypothesized mediating effects of diabetes management as an intervening variable between diabetes symptoms and generic HRQOL.ResultsThe predictive effects of diabetes symptoms on HRQOL were mediated in part by diabetes management. In predictive analytics models utilizing multiple regression analyses, demographic and clinical covariates, diabetes symptoms, and diabetes management significantly accounted for 53% of the variance in generic HRQOL (P

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3s1221b6Test

المؤلفون: Miller, Jennifer L, Tamura, Roy, Butler, Merlin G, Kimonis, Virginia, Sulsona, Carlos, Gold, June‐Anne, Driscoll, Daniel J

المصدر: American Journal of Medical Genetics Part A. 173(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Mental Health, Nutrition, Brain Disorders, Clinical Research, Neurosciences, Behavioral and Social Science, Basic Behavioral and Social Science, Pediatric, Clinical Trials and Supportive Activities, Obesity, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Child, Child, Preschool, Cross-Over Studies, Double-Blind Method, Female, Humans, Male, Oxytocin, Potassium, Prader-Willi Syndrome, Quality of Life, Sodium, Surveys and Questionnaires, Treatment Outcome, hyperphagia, oxytocin, Prader-Willi syndrome, Genetics, Clinical sciences

الوصف: Prader-Willi syndrome (PWS) is a rare, complex multisystem genetic disorder which includes hypothalamic dysfunction, hyperphagia, cognitive and behavioral problems, increased anxiety, and compulsive behaviors. Individuals with PWS have a deficit of oxytocin producing neurons in the paraventricular nucleus of the hypothalamus. Oxytocin plays a role in regulation of feeding behaviors, social interactions, and emotional reactivity, which are all issues that significantly affect the quality of life for individuals with this syndrome. We performed a double-blind, placebo-controlled, crossover study in 24 children with PWS at three academic institutions using 5 days of intranasal oxytocin (IN-OT) or 5 days of intranasal placebo spray, followed by a 4 week washout period, and then patients returned for 5 days of treatment with the alternate source. Questionnaires, including the Aberrant Behavior Checklist, Social Responsiveness Scale, Repetitive Behavior Scale - Revised, and the Hyperphagia Questionnaire, as well as Clinical Global Impression scales were administered. Blood testing for sodium, potassium, and glucose levels on days 2, 4, and 6, and a 24 hr diet recall. All scales factor improvement from Day 3 to Day 6 favored oxytocin over placebo. No single factor showed a statistically significant difference (P

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الوصول الحر: https://escholarship.org/uc/item/70581191Test

المؤلفون: Miller, Jennifer L, Lynn, Christy H, Driscoll, Danielle C, Goldstone, Anthony P, Gold, June‐Anne, Kimonis, Virginia, Dykens, Elisabeth, Butler, Merlin G, Shuster, Jonathan J, Driscoll, Daniel J

المصدر: American Journal of Medical Genetics Part A. 155(5)

مصطلحات موضوعية: Pediatric, Clinical Research, Nutrition, Prevention, Rare Diseases, Behavioral and Social Science, Obesity, Cancer, Oral and gastrointestinal, Stroke, Metabolic and endocrine, Cardiovascular, Cohort Studies, Energy Intake, Failure to Thrive, Humans, Longitudinal Studies, Nutritional Status, Prader-Willi Syndrome, Prader-Willi, nutrition, appetite, weight gain, Genetics, Clinical Sciences

الوصف: Prader-Willi syndrome (PWS) is a complex neurobehavioral condition which has been classically described as having two nutritional stages: poor feeding, frequently with failure to thrive (FTT) in infancy (Stage 1), followed by hyperphagia leading to obesity in later childhood (Stage 2). We have longitudinally followed the feeding behaviors of individuals with PWS and found a much more gradual and complex progression of the nutritional phases than the traditional two stages described in the literature. Therefore, this study characterizes the growth, metabolic, and laboratory changes associated with the various nutritional phases of PWS in a large cohort of subjects. We have identified a total of seven different nutritional phases, with five main phases and sub-phases in phases 1 and 2. Phase 0 occurs in utero, with decreased fetal movements and growth restriction compared to unaffected siblings. In phase 1 the infant is hypotonic and not obese, with sub-phase 1a characterized by difficulty feeding with or without FTT (ages birth-15 months; median age at completion: 9 months). This phase is followed by sub-phase 1b when the infant grows steadily along a growth curve and weight is increasing at a normal rate (median age of onset: 9 months; age quartiles 5-15 months). Phase 2 is associated with weight gain-in sub-phase 2a the weight increases without a significant change in appetite or caloric intake (median age of onset 2.08 years; age quartiles 20-31 months;), while in sub-phase 2b the weight gain is associated with a concomitant increased interest in food (median age of onset: 4.5 years; quartiles 3-5.25 years). Phase 3 is characterized by hyperphagia, typically accompanied by food-seeking and lack of satiety (median age of onset: 8 years; quartiles 5-13 years). Some adults progress to phase 4 which is when an individual who was previously in phase 3 no longer has an insatiable appetite and is able to feel full. Therefore, the progression of the nutritional phases in PWS is much more complex than previously recognized. Awareness of the various phases will aid researchers in unraveling the pathophysiology of each phase and provide a foundation for developing rational therapies. Counseling parents of newly diagnosed infants with PWS as to what to expect with regard to these nutritional phases may help prevent or slow the early-onset of obesity in this syndrome.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2vz517rbTest