TY - JOUR AU - Pauli, R. M. PY - 2019 DA - 2019// TI - Achondroplasia: a comprehensive clinical review JO - Orphanet J Rare Dis VL - 14 UR - https://doi.org/10.1186/s13023-018-0972-6 DO - 10.1186/s13023-018-0972-6 ID - Pauli2019 ER - TY - JOUR AU - Krakow, D. AU - Rimoin, D. L. PY - 2010 DA - 2010// TI - The skeletal dysplasias JO - Genet Med VL - 12 UR - https://doi.org/10.1097/GIM.0b013e3181daae9b DO - 10.1097/GIM.0b013e3181daae9b ID - Krakow2010 ER - TY - STD TI - Zabel B. FGFR3-Mutationen als Ursache von Skelletdysplasien der Achondroplasie-Gruppe - Aufklärung der gestörten Signalwege in der Wachstumsfuge [FGFR3-Mutations as a cause of skeletal dysplasia of the achondroplasia group - alucidation of disturbed signal pathways in the growth plate]. In: Mohnike K, Klingebiel KH, Vaupel N, Zabel B, editors. Achondroplasie und Hypochondroplasie - Diagnostik und Betreuung spezifischer Kleinwuchsformen [achondroplasia and Hypochondroplasia - diagnostic and care of specific forms of short stature]: ABW Wissensverlagsgesellschaft; 2013. p. 3–10. ID - ref3 ER - TY - JOUR AU - Horton, W. A. AU - Hall, J. G. AU - Hecht, J. T. PY - 2007 DA - 2007// TI - Achondroplasia JO - Lancet (London, England) VL - 370 UR - https://doi.org/10.1016/S0140-6736(07)61090-3 DO - 10.1016/S0140-6736(07)61090-3 ID - Horton2007 ER - TY - JOUR AU - Baujat, G. AU - Legeai-Mallet, L. AU - Finidori, G. AU - Cormier-Daire, V. AU - Merrer, M. PY - 2008 DA - 2008// TI - Achondroplasia JO - Best Pract Res Clin Rheumatol VL - 22 UR - https://doi.org/10.1016/j.berh.2007.12.008 DO - 10.1016/j.berh.2007.12.008 ID - Baujat2008 ER - TY - JOUR AU - Dogba, M. J. AU - Rauch, F. AU - Douglas, E. AU - Bedos, C. PY - 2014 DA - 2014// TI - Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta JO - Health Qual Life Outcomes VL - 12 UR - https://doi.org/10.1186/s12955-014-0151-y DO - 10.1186/s12955-014-0151-y ID - Dogba2014 ER - TY - JOUR AU - Hunter, A. G. AU - Bankier, A. AU - Rogers, J. G. AU - Sillence, D. AU - Scott, C. I. PY - 1998 DA - 1998// TI - Medical complications of achondroplasia: a multicentre patient review JO - J Med Genet VL - 35 UR - https://doi.org/10.1136/jmg.35.9.705 DO - 10.1136/jmg.35.9.705 ID - Hunter1998 ER - TY - JOUR AU - Rohenkohl, A. C. AU - Bullinger, M. AU - Quitmann, J. PY - 2015 DA - 2015// TI - Lebensqualität bei Kindern, Jugendlichen und jungen Erwachsenen mit Achondroplasie [quality of life in children, adolescents and young adults with achondroplasia] JO - Orthopade VL - 44 UR - https://doi.org/10.1007/s00132-014-3020-9 DO - 10.1007/s00132-014-3020-9 ID - Rohenkohl2015 ER - TY - JOUR AU - Gollust, S. a. r. a. h. E. AU - Thompson, R. i. c. h. a. r. d. E. AU - Gooding, H. o. l. l. y. C. AU - Biesecker, B. a. r. b. a. r. a. B. PY - 2003 DA - 2003// TI - Living with achondroplasia in an average-sized world: An assessment of quality of life JO - American Journal of Medical Genetics VL - 120A UR - https://doi.org/10.1002/ajmg.a.20127 DO - 10.1002/ajmg.a.20127 ID - Gollust2003 ER - TY - JOUR AU - Mahomed, N. N. AU - Spellmann, M. AU - Goldberg, M. J. PY - 1998 DA - 1998// TI - Functional health status of adults with achondroplasia JO - Am J Med Genet VL - 78 UR - https://doi.org/3.0.CO;2-P DO - 3.0.CO;2-P ID - Mahomed1998 ER - TY - JOUR AU - Bogart, K. R. AU - Irvin, V. L. PY - 2017 DA - 2017// TI - Health-related quality of life among adults with diverse rare disorders JO - Orphanet J Rare Dis VL - 12 UR - https://doi.org/10.1186/s13023-017-0730-1 DO - 10.1186/s13023-017-0730-1 ID - Bogart2017 ER - TY - JOUR AU - Witt, S. AU - Rohenkohl, A. AU - Bullinger, M. AU - Sommer, R. AU - Kahrs, S. AU - Klingebiel, K. H. PY - 2017 DA - 2017// TI - Understanding, assessing and improving health-related quality of life of young people with achondroplasia- a collaboration between a patient organization and academic medicine JO - Pediatr Endocrinol Rev VL - 15 ID - Witt2017 ER - TY - JOUR AU - Ingerski, L. M. AU - Modi, A. C. AU - Hood, K. K. AU - Pai, A. L. AU - Zeller, M. AU - Piazza-Waggoner, C. PY - 2010 DA - 2010// TI - Health-related quality of life across pediatric chronic conditions JO - J Pediatr VL - 156 UR - https://doi.org/10.1016/j.jpeds.2009.11.008 DO - 10.1016/j.jpeds.2009.11.008 ID - Ingerski2010 ER - TY - JOUR AU - Newacheck, P. W. AU - Strickland, B. AU - Shonkoff, J. P. AU - Perrin, J. M. AU - McPherson, M. AU - McManus, M. PY - 1998 DA - 1998// TI - An epidemiologic profile of children with special health care needs JO - Pediatrics. VL - 102 UR - https://doi.org/10.1542/peds.102.1.117 DO - 10.1542/peds.102.1.117 ID - Newacheck1998 ER - TY - JOUR AU - Bloemeke, J. AU - Sommer, R. AU - Witt, S. AU - Dabs, M. AU - Badia, F. J. AU - Bullinger, M. PY - 2019 DA - 2019// TI - Piloting and psychometric properties of a patient-reported outcome instrument for young people with achondroplasia based on the international classification of functioning disability and health: the achondroplasia personal life experience scale (APLES) JO - Disabil Rehabil VL - 41 UR - https://doi.org/10.1080/09638288.2018.1447028 DO - 10.1080/09638288.2018.1447028 ID - Bloemeke2019 ER - TY - JOUR AU - Sommer, R. AU - Blomeke, J. AU - Dabs, M. AU - Witt, S. AU - Bullinger, M. AU - Quitmann, J. PY - 2017 DA - 2017// TI - An ICF-CY-based approach to assessing self- and observer-reported functioning in young persons with achondroplasia - development of the pilot version of the achondroplasia personal life experience scale (APLES) JO - Disabil Rehabil VL - 39 UR - https://doi.org/10.1080/09638288.2016.1226969 DO - 10.1080/09638288.2016.1226969 ID - Sommer2017 ER - TY - JOUR AU - Varni, J. W. AU - Limbers, C. A. AU - Burwinkle, T. M. PY - 2007 DA - 2007// TI - Impaired health-related quality of life in children and adolescents with chronic conditions: a comparative analysis of 10 disease clusters and 33 disease categories/severities utilizing the PedsQL 4.0 generic Core scales JO - Health Qual Life Outcomes VL - 5 UR - https://doi.org/10.1186/1477-7525-5-43 DO - 10.1186/1477-7525-5-43 ID - Varni2007 ER - TY - CHAP AU - Teubert, D. AU - Pinquart, M. ED - Pinquart, M. PY - 2013 DA - 2013// TI - Belastungen der Eltern chronisch körperlich kranker kinder [burdens of parents of chronically physically ill children] BT - Wenn kinder und Jugendliche körperlich chronisch krank Sind: Psychische und soziale Entwicklung, Prävention, intervention [when children and adolescents are physically chronically ill: mental and social development, prevention, intervention] PB - Springer Berlin Heidelberg CY - Berlin, Heidelberg ID - Teubert2013 ER - TY - JOUR AU - Rohenkohl, A. n. j. a. C. AU - Sommer, R. a. c. h. e. l. AU - Bestges, S. t. e. p. h. a. n. i. e. AU - Kahrs, S. a. b. i. n. e. AU - Klingebiel, K. a. r. l. -. H. e. i. n. z. AU - Bullinger, M. o. n. i. k. a. AU - Quitmann, J. u. l. i. a. PY - 2015 DA - 2015// TI - Leben mit Achondroplasie JO - Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie VL - 43 UR - https://doi.org/10.1024/1422-4917/a000385 DO - 10.1024/1422-4917/a000385 ID - Rohenkohl2015 ER - TY - JOUR AU - Silva, N. AU - Bullinger, M. AU - Quitmann, J. AU - Ravens-Sieberer, U. AU - Rohenkohl, A. PY - 2013 DA - 2013// TI - HRQoL of European children and adolescents with short stature as assessed with generic (KIDSCREEN) and chronic-generic (DISABKIDS) instruments JO - Expert Rev Pharmacoecon Outcomes Res VL - 13 UR - https://doi.org/10.1586/14737167.2013.847366 DO - 10.1586/14737167.2013.847366 ID - Silva2013 ER - TY - JOUR AU - Quitmann, J. AU - Witt, S. AU - Rohenkohl, A. AU - Bullinger, M. AU - Sommer, R. AU - Klingebiel, R. PY - 2014 DA - 2014// TI - Lebensqualität junger menschen mit Achondroplasie. Qualitativer Vergleich der Perspektiven von Betroffenen und Eltern [quality of life of young patients with achondroplasia. Qualitative comparison of the perspectives of patients and parents] JO - Monatsschrift Kinderheilkunde. VL - 162 UR - https://doi.org/10.1007/s00112-014-3125-6 DO - 10.1007/s00112-014-3125-6 ID - Quitmann2014 ER - TY - JOUR AU - Fitzgerald, C. AU - George, S. AU - Somerville, R. AU - Linnane, B. AU - Fitzpatrick, P. PY - 2018 DA - 2018// TI - Caregiver burden of parents of young children with cystic fibrosis JO - J Cyst Fibros VL - 17 UR - https://doi.org/10.1016/j.jcf.2017.08.016 DO - 10.1016/j.jcf.2017.08.016 ID - Fitzgerald2018 ER - TY - JOUR AU - Park, E. AU - Kim, H. AU - Steinhoff, A. PY - 2016 DA - 2016// TI - Health-related internet use by informal caregivers of children and adolescents: an integrative literature review JO - J Med Internet Res VL - 18 ID - Park2016 ER - TY - JOUR AU - Piran, P. e. g. a. h. AU - Khademi, Z. a. h. r. a. AU - Tayari, N. a. r. g. e. s. AU - Mansouri, N. a. f. i. s. e. PY - 2017 DA - 2017// TI - Caregiving burden of children with chronic diseases JO - Electronic Physician VL - 9 UR - https://doi.org/10.19082/5380 DO - 10.19082/5380 ID - Piran2017 ER - TY - JOUR AU - Logan, D. E. AU - Scharff, L. PY - 2005 DA - 2005// TI - Relationships between family and parent characteristics and functional abilities in children with recurrent pain syndromes: an investigation of moderating effects on the pathway from pain to disability JO - J Pediatr Psychol VL - 30 UR - https://doi.org/10.1093/jpepsy/jsj060 DO - 10.1093/jpepsy/jsj060 ID - Logan2005 ER - TY - JOUR AU - Arafa, M. A. AU - Zaher, S. R. AU - El-Dowaty, A. A. AU - Moneeb, D. E. PY - 2008 DA - 2008// TI - Quality of life among parents of children with heart disease JO - Health Qual Life Outcomes VL - 6 UR - https://doi.org/10.1186/1477-7525-6-91 DO - 10.1186/1477-7525-6-91 ID - Arafa2008 ER - TY - JOUR AU - Hatzmann, J. AU - Heymans, H. S. AU - Ferrer-i-Carbonell, A. AU - Praag, B. M. AU - Grootenhuis, M. A. PY - 2008 DA - 2008// TI - Hidden consequences of success in pediatrics: parental health-related quality of life--results from the care project JO - Pediatrics. VL - 122 UR - https://doi.org/10.1542/peds.2008-0582 DO - 10.1542/peds.2008-0582 ID - Hatzmann2008 ER - TY - JOUR AU - Lawoko, S. AU - Soares, J. J. PY - 2003 DA - 2003// TI - Quality of life among parents of children with congenital heart disease, parents of children with other diseases and parents of healthy children JO - Qual Life Res VL - 12 UR - https://doi.org/10.1023/A:1025114331419 DO - 10.1023/A:1025114331419 ID - Lawoko2003 ER - TY - STD TI - Witt S, Dellenmark-Blom M, Dingemann J, Dingemann C, Ure BM, Gomez B, et al. Quality of life in parents of children born with esophageal atresia. Eur J Pediatr Surg. 2018. ID - ref29 ER - TY - JOUR AU - Berger, Z. E. AU - Dalton, L. J. PY - 2009 DA - 2009// TI - Coping with a cleft: psychosocial adjustment of adolescents with a cleft lip and palate and their parents JO - Cleft Palate Craniofac J VL - 46 UR - https://doi.org/10.1597/08-093.1 DO - 10.1597/08-093.1 ID - Berger2009 ER - TY - JOUR AU - Hunfeld, J. A. AU - Perquin, C. W. AU - Duivenvoorden, H. J. AU - Hazebroek-Kampschreur, A. A. AU - Passchier, J. AU - Suijlekom-Smit, L. W. PY - 2001 DA - 2001// TI - Chronic pain and its impact on quality of life in adolescents and their families JO - J Pediatr Psychol VL - 26 UR - https://doi.org/10.1093/jpepsy/26.3.145 DO - 10.1093/jpepsy/26.3.145 ID - Hunfeld2001 ER - TY - JOUR AU - Wiedebusch, S. AU - Konrad, M. AU - Foppe, H. AU - Reichwald-Klugger, E. AU - Schaefer, F. AU - Schreiber, V. PY - 2010 DA - 2010// TI - Health-related quality of life, psychosocial strains, and coping in parents of children with chronic renal failure JO - Pediatr Nephrol (Berlin, Germany) VL - 25 UR - https://doi.org/10.1007/s00467-010-1540-z DO - 10.1007/s00467-010-1540-z ID - Wiedebusch2010 ER - TY - JOUR AU - Witt, S. AU - Bullinger, M. AU - Quitmann, J. PY - 2018 DA - 2018// TI - Emotionsregulation, psychische Auffälligkeiten und Lebensqualität von Kindern mit endokrinem Kleinwuchs [emotion regulation, strenghts and difficulties and quality of life of children with endocrine short stature] JO - Pädiatrische Praxis VL - 90 ID - Witt2018 ER - TY - JOUR AU - Rohenkohl, A. AU - Sommer, R. AU - Kahrs, S. AU - Bullinger, M. AU - Klingebiel, K. -. H. AU - Quitmann, J. PY - 2016 DA - 2016// TI - Evaluation eines selbsthilfegestützten psychosozialen Interventionsangebotes für kinder und Jugendliche mit disproportionalem Kleinwuchs [evaluation of a self-help supported counseling concept for children and adolescents with disproportional short stature] JO - Klin Padiatr VL - 228 ID - Rohenkohl2016 ER - TY - JOUR AU - Gollust, S. E. AU - Thompson, R. E. AU - Gooding, H. C. AU - Biesecker, B. B. PY - 2003 DA - 2003// TI - Living with achondroplasia: attitudes toward population screening and correlation with quality of life JO - Prenat Diagn VL - 23 UR - https://doi.org/10.1002/pd.743 DO - 10.1002/pd.743 ID - Gollust2003 ER - TY - JOUR AU - Varni, J. W. AU - Limbers, C. A. AU - Burwinkle, T. M. PY - 2007 DA - 2007// TI - How young can children reliably and validly self-report their health-related quality of life?: an analysis of 8,591 children across age subgroups with the PedsQL 4.0 generic Core scales JO - Health Qual Life Outcomes VL - 5 UR - https://doi.org/10.1186/1477-7525-5-1 DO - 10.1186/1477-7525-5-1 ID - Varni2007 ER - TY - JOUR AU - Beierlein, V. AU - Morfled, M. AU - Bergelt, C. AU - Bullinger, M. AU - Brähler, E. PY - 2012 DA - 2012// TI - Messung der gesundheitsbezogenen Lebensqualität mit dem SF-8. Deutsche Normdaten aus einer repräsentativen schriftlichen Befragung [measuring health-related quality of life with the SF-8: German norms from a representative self-administered survey] JO - Diagnostica. VL - 58 UR - https://doi.org/10.1026/0012-1924/a000068 DO - 10.1026/0012-1924/a000068 ID - Beierlein2012 ER - TY - JOUR AU - Kromeyer-Hauschild, K. AU - Wabitsch, M. AU - Kunze, D. AU - Geller, F. AU - Geiß, H. C. AU - Hesse, V. PY - 2001 DA - 2001// TI - Perzentile für den Body-mass-Index für das Kindes- und Jugendalter unter Heranziehung verschiedener deutscher Stichproben [Percentiles for the body mass index for children and adolescents, using German samples] JO - Monatsschrift Kinderheilkunde VL - 149 UR - https://doi.org/10.1007/s001120170107 DO - 10.1007/s001120170107 ID - Kromeyer-Hauschild2001 ER - TY - JOUR AU - Flieder, S. AU - Dellenmark-Blom, M. AU - Witt, S. AU - Dingemann, C. AU - Quitmann, J. H. AU - Jonsson, L. PY - 2019 DA - 2019// TI - Generic health-related quality of life after repair of esophageal atresia and its determinants within a German-Swedish cohort JO - Eur J Pediatr Surg VL - 29 UR - https://doi.org/10.1055/s-0038-1672144 DO - 10.1055/s-0038-1672144 ID - Flieder2019 ER - TY - JOUR AU - Hampel, P. AU - Rudolph, H. AU - Stachow, R. AU - Laß-Lentzsch, A. AU - Petermann, F. PY - 2005 DA - 2005// TI - Coping among children and adolescents with chronic illness JO - Anxiety Stress Coping VL - 18 UR - https://doi.org/10.1080/10615800500134639 DO - 10.1080/10615800500134639 ID - Hampel2005 ER - TY - JOUR AU - Lindstrom, C. AU - Aman, J. AU - Norberg, A. L. PY - 2010 DA - 2010// TI - Increased prevalence of burnout symptoms in parents of chronically ill children JO - Acta Paediatr (Oslo, Norway : 1992) VL - 99 UR - https://doi.org/10.1111/j.1651-2227.2009.01586.x DO - 10.1111/j.1651-2227.2009.01586.x ID - Lindstrom2010 ER - TY - STD TI - Tröster H, Bersch M, Ruppert S, Boenigk H-E. Determinanten der Belastung von Müttern mit anfallskranken Kindern [Determinants of stress in mothers of children with epilepsy]2000. 50–61 p. ID - ref42 ER - TY - JOUR AU - Grootenhuis, M. A. AU - Bronner, M. B. PY - 2009 DA - 2009// TI - Paediatric illness! Family matters JO - Acta Paediatr (Oslo, Norway : 1992). VL - 98 UR - https://doi.org/10.1111/j.1651-2227.2009.01321.x DO - 10.1111/j.1651-2227.2009.01321.x ID - Grootenhuis2009 ER - TY - JOUR AU - Quitmann, J. AU - Rohenkohl, A. AU - Sommer, R. AU - Bullinger, M. AU - Silva, N. PY - 2016 DA - 2016// TI - Explaining parent-child (dis) agreement in generic and short stature-specific health-related quality of life reports: do family and social relationships matter? JO - Health Qual Life Outcomes VL - 14 UR - https://doi.org/10.1186/s12955-016-0553-0 DO - 10.1186/s12955-016-0553-0 ID - Quitmann2016 ER - TY - JOUR AU - Silva, N. AU - Bullinger, M. AU - Sommer, R. AU - Rohenkohl, A. AU - Witt, S. AU - Quitmann, J. PY - 2018 DA - 2018// TI - Children's psychosocial functioning and parents' quality of life in paediatric short stature: the mediating role of caregiving stress JO - Clin Psychol Psychother VL - 25 UR - https://doi.org/10.1002/cpp.2146 DO - 10.1002/cpp.2146 ID - Silva2018 ER -