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Background: There is a paucity of information on health-related quality of life (HRQoL) outcomes in parents and children with conditions affecting sex development. The objective of this study was to develop short forms of HRQoL questionnaires which consist of a 63-item and 25-item parent self-report (PSR) and parent proxy-report (PPR), respectively, optimising use in routine clinic settings.
Methods: Short questionnaires were developed following exploratory factor analysis using raw data from 132 parents. Long and short PSRs were completed by 24 parents of children with conditions affecting sex development with median age of 3.6 years (range 0.1, 6.6); 21 (88%) were boys and 11 (46%) had proximal hypospadias. A subset of 19 parents completed long and short PPRs.
Results: Item selection based on factor loadings of >0.8 and expert consultation, produced short PSR and PPRs containing 16 and 7 items, respectively. There was no statistically significant difference in 11 out of 12 (92%) scales on the PSR and 4 out of 5 (80%) scales on the PPR when comparing short and long questionnaire scores. Short and long questionnaires took <1 minute and 5 minutes for completion, respectively. Eighteen parents (75%) reported that the time taken to complete short questionnaires was acceptable; 10 (42%) preferred short questionnaires. Ten (42%) versus 6 (25%) stated a preference for completing short versus long questionnaires.
Conclusion: Short versions were largely representative of the long questionnaires and are acceptable to evaluate psychosocial distress in young children and their caregivers. Further psychometric validation of short forms is warranted.
Tulane University School of Medicine, Department of Psychiatry, Division of Child and Adolescent Psychiatry, Tulane University, New Orleans, Louisiana, USA
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Tulane University School of Medicine, Department of Psychiatry, Division of Child and Adolescent Psychiatry, Tulane University, New Orleans, Louisiana, USA
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aging spectrum, DHEA is positively associated with pubertal development. A steady increase in DHEA production is observed with adrenarche, the maturation of the adrenal gland ( 1 ) and the hallmark of pubertal initiation. The adrenal glands continue to
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action of GH occurs mainly in the liver, and the hypoglycemic action of IGF1 occurs mainly in muscle (2) . At least in animal models, IGF1 also has an important role in the development of β-cell mass (3, 4, 5) . Genetic forms of GH resistance or GH
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testicular androgen production/action from the second trimester onwards result in disorders of sex development for boys. A similar phenomenon akin to that seen in 46,XX individuals with STAR variants may occur, where enzyme deficiency is either compensated
Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital/ University Medical Center Utrecht, Utrecht, The Netherlands
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Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK
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Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK
Office for Rare Conditions, University of Glasgow, Glasgow, UK
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Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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studies. The development of a patient registry is a complex process which can globally be divided into three major stages: i) preparatory phase, ii) implementation, and iii) output. The ped-DTC registry is in progress, and we are currently in the
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
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) . Glypican 6 ( GPC6 ), in the top 10 downregulated probesets, is a heparan sulphate proteoglycan, which is linked to the extracellular surface of the cell membrane. Glypicans are expressed during development and are thought to control availability of local
ELPEN, Inc. Research Institute, Athens, Greece
European University of Cyprus School of Medicine, Nicosia, Cyprus
Medical Genetics, Henry Dunant Hospital, Athens, Greece
National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA
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genomic medicine for more than three decades and I am delighted to see the developments of the latter and their impact on the former. Endocrine Connections is right to want to cover more endocrine genetics, as precision medicine (that is largely based on
Department of Pediatric Endocrinology and Metabolic Diseases, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
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.239.13 ) 10.1136/adc.45.239.13 5440182 10 Greulich WW Pyle SI. Radiograph Atlas of Skeletal Development of the Hand and Wrist. 2nd ed. Stanford, CA, USA : Stanford University Press , 1959 . 11 Bayley N Pinneau SR. Tables for predicting adult
Department of Research and Development, Växjö, Sweden
Primary Care, Växjö, Sweden
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Department of Research and Development, Växjö, Sweden
Department of Internal Medicine, Endocrinology and Diabetes, Central Hospital, Växjö, Sweden
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-α ( 17 ), which is another inflammatory molecule involved in the development of DR ( 6 ). Increased concentrations of sCD163 have been demonstrated in the vitreous of the eye in patients with proliferative DR, and the sCD163 levels were particularly high
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Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China
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to LEAD development were also carried into the multiple regression model. Of the candidate variables analyzed, seven factors (age, duration of diabetes, smoking status, blood pressure control, LDL-C, eGFR, and coexistence of cardio- and