Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia—a comparative study
Identifieur interne : 000D55 ( Pmc/Corpus ); précédent : 000D54; suivant : 000D56Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia—a comparative study
Auteurs : Amy Stertun Geirdal ; Solfrid S Rgjerd Saltnes ; Kari Storhaug ; Pamela Sten ; Hilde Nordgarden ; Janicke Liaaen JensenSource :
- Quality of Life Research [ 0962-9343 ] ; 2014.
Abstract
The relationship between quality of life, psychological distress, and orofacial syndromes in children and adolescents has been reported in several studies. However, little is known about differences in psychological distress and quality of life among adults with different orofacial conditions. Therefore, the aims of this study were to examine and compare these factors among three groups of adults affected by Treacher Collins syndrome (TCS), cherubism, and oligodontia/ectodermal dysplasia (ED).
We included 11 individuals with TCS (mean age 46.9, SD 12.9 years), 15 with cherubism (mean age 50.3, SD 16.8 years), and 49 with oligodontia/ED (mean age 30.7, SD 15.6 years). The respondents completed questionnaires related to psychological distress and quality of life.
The oligodontia/ED group had a significantly higher level of anxiety and worse mental health-related quality of life than both the TCS and cherubism groups. Adults with TCS reported the highest level of depression, and the lowest levels of overall quality of life, well-being, and physical health-related quality of life. The cherubism group displayed the best overall quality of life, well-being, and mental health.
Psychological distress and quality of life differed in various orofacial conditions. This study provided insight into these aspects that may contribute to improved care.
Url:
DOI: 10.1007/s11136-014-0826-1
PubMed: 25344415
PubMed Central: 4366539
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia—a comparative study</title><author><name sortKey="Geirdal, Amy Stertun" sort="Geirdal, Amy Stertun" uniqKey="Geirdal A" first="Amy Stertun" last="Geirdal">Amy Stertun Geirdal</name><affiliation><nlm:aff id="Aff1">Faculty of Social Sciences, Oslo and Akershus University College of Applied Sciences, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Saltnes, Solfrid S Rgjerd" sort="Saltnes, Solfrid S Rgjerd" uniqKey="Saltnes S" first="Solfrid S Rgjerd" last="Saltnes">Solfrid S Rgjerd Saltnes</name><affiliation><nlm:aff id="Aff2">TAKO-Centre, Lovisenberg Diakonale Hospital, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Storhaug, Kari" sort="Storhaug, Kari" uniqKey="Storhaug K" first="Kari" last="Storhaug">Kari Storhaug</name><affiliation><nlm:aff id="Aff2">TAKO-Centre, Lovisenberg Diakonale Hospital, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey=" Sten, Pamela" sort=" Sten, Pamela" uniqKey=" Sten P" first="Pamela" last=" Sten">Pamela Sten</name><affiliation><nlm:aff id="Aff2">TAKO-Centre, Lovisenberg Diakonale Hospital, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Nordgarden, Hilde" sort="Nordgarden, Hilde" uniqKey="Nordgarden H" first="Hilde" last="Nordgarden">Hilde Nordgarden</name><affiliation><nlm:aff id="Aff2">TAKO-Centre, Lovisenberg Diakonale Hospital, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Jensen, Janicke Liaaen" sort="Jensen, Janicke Liaaen" uniqKey="Jensen J" first="Janicke Liaaen" last="Jensen">Janicke Liaaen Jensen</name><affiliation><nlm:aff id="Aff3">Department of Oral Surgery and Oral Medicine, Faculty of Dentistry, University of Oslo, Oslo, Norway</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25344415</idno><idno type="pmc">4366539</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366539</idno><idno type="RBID">PMC:4366539</idno><idno type="doi">10.1007/s11136-014-0826-1</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">000D55</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000D55</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia—a comparative study</title><author><name sortKey="Geirdal, Amy Stertun" sort="Geirdal, Amy Stertun" uniqKey="Geirdal A" first="Amy Stertun" last="Geirdal">Amy Stertun Geirdal</name><affiliation><nlm:aff id="Aff1">Faculty of Social Sciences, Oslo and Akershus University College of Applied Sciences, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Saltnes, Solfrid S Rgjerd" sort="Saltnes, Solfrid S Rgjerd" uniqKey="Saltnes S" first="Solfrid S Rgjerd" last="Saltnes">Solfrid S Rgjerd Saltnes</name><affiliation><nlm:aff id="Aff2">TAKO-Centre, Lovisenberg Diakonale Hospital, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Storhaug, Kari" sort="Storhaug, Kari" uniqKey="Storhaug K" first="Kari" last="Storhaug">Kari Storhaug</name><affiliation><nlm:aff id="Aff2">TAKO-Centre, Lovisenberg Diakonale Hospital, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey=" Sten, Pamela" sort=" Sten, Pamela" uniqKey=" Sten P" first="Pamela" last=" Sten">Pamela Sten</name><affiliation><nlm:aff id="Aff2">TAKO-Centre, Lovisenberg Diakonale Hospital, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Nordgarden, Hilde" sort="Nordgarden, Hilde" uniqKey="Nordgarden H" first="Hilde" last="Nordgarden">Hilde Nordgarden</name><affiliation><nlm:aff id="Aff2">TAKO-Centre, Lovisenberg Diakonale Hospital, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Jensen, Janicke Liaaen" sort="Jensen, Janicke Liaaen" uniqKey="Jensen J" first="Janicke Liaaen" last="Jensen">Janicke Liaaen Jensen</name><affiliation><nlm:aff id="Aff3">Department of Oral Surgery and Oral Medicine, Faculty of Dentistry, University of Oslo, Oslo, Norway</nlm:aff></affiliation></author></analytic><series><title level="j">Quality of Life Research</title><idno type="ISSN">0962-9343</idno><idno type="eISSN">1573-2649</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Purpose</title><p>The relationship between quality of life, psychological distress, and orofacial syndromes in children and adolescents has been reported in several studies. However, little is known about differences in psychological distress and quality of life among adults with different orofacial conditions. Therefore, the aims of this study were to examine and compare these factors among three groups of adults affected by Treacher Collins syndrome (TCS), cherubism, and oligodontia/ectodermal dysplasia (ED).</p></sec><sec><title>Methods</title><p>We included 11 individuals with TCS (mean age 46.9, SD 12.9 years), 15 with cherubism (mean age 50.3, SD 16.8 years), and 49 with oligodontia/ED (mean age 30.7, SD 15.6 years). The respondents completed questionnaires related to psychological distress and quality of life.</p></sec><sec><title>Results</title><p>The oligodontia/ED group had a significantly higher level of anxiety and worse mental health-related quality of life than both the TCS and cherubism groups. Adults with TCS reported the highest level of depression, and the lowest levels of overall quality of life, well-being, and physical health-related quality of life. The cherubism group displayed the best overall quality of life, well-being, and mental health.</p></sec><sec><title>Conclusions</title><p>Psychological distress and quality of life differed in various orofacial conditions. This study provided insight into these aspects that may contribute to improved care.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Teber, Oa" uniqKey="Teber O">OA Teber</name></author><author><name sortKey="Gillessen Kaesbach, G" uniqKey="Gillessen Kaesbach G">G Gillessen-Kaesbach</name></author><author><name sortKey="Fischer, S" uniqKey="Fischer S">S Fischer</name></author><author><name sortKey="Bohringer, S" uniqKey="Bohringer S">S Bohringer</name></author><author><name sortKey="Albrecht, B" uniqKey="Albrecht B">B Albrecht</name></author><author><name sortKey="Albert, A" uniqKey="Albert A">A Albert</name></author><author><name sortKey="Arslan Kirchner, M" uniqKey="Arslan Kirchner M">M Arslan-Kirchner</name></author><author><name sortKey="Haan, E" uniqKey="Haan E">E Haan</name></author><author><name sortKey="Hagedorn Greiwe, M" uniqKey="Hagedorn Greiwe M">M Hagedorn-Greiwe</name></author><author><name sortKey="Hammans, C" uniqKey="Hammans C">C Hammans</name></author><author><name sortKey="Henn, W" uniqKey="Henn W">W Henn</name></author><author><name sortKey="Hinkel, Gk" uniqKey="Hinkel G">GK Hinkel</name></author><author><name sortKey="Konig, R" uniqKey="Konig R">R Konig</name></author><author><name sortKey="Kunstmann, E" uniqKey="Kunstmann E">E Kunstmann</name></author><author><name sortKey="Kunze, J" uniqKey="Kunze J">J Kunze</name></author><author><name sortKey="Neumann, Lm" uniqKey="Neumann L">LM Neumann</name></author><author><name sortKey="Prott, Ec" uniqKey="Prott E">EC Prott</name></author><author><name sortKey="Rauch, A" uniqKey="Rauch A">A Rauch</name></author><author><name sortKey="Rott, Hd" uniqKey="Rott H">HD Rott</name></author><author><name sortKey="Seidel, H" uniqKey="Seidel H">H Seidel</name></author><author><name sortKey="Spranger, S" uniqKey="Spranger S">S Spranger</name></author><author><name sortKey="Sprengel, M" uniqKey="Sprengel M">M Sprengel</name></author><author><name sortKey="Zoll, B" uniqKey="Zoll B">B Zoll</name></author><author><name sortKey="Lohmann, Dr" uniqKey="Lohmann D">DR Lohmann</name></author><author><name sortKey="Wieczorek, D" uniqKey="Wieczorek D">D Wieczorek</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Edwards, Sj" uniqKey="Edwards S">SJ Edwards</name></author><author><name sortKey="Gladwin, Aj" uniqKey="Gladwin A">AJ Gladwin</name></author><author><name sortKey="Dixon, Mj" uniqKey="Dixon M">MJ Dixon</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Marszalek, B" uniqKey="Marszalek B">B Marszalek</name></author><author><name sortKey="Wisniewski, Sa" uniqKey="Wisniewski S">SA Wisniewski</name></author><author><name sortKey="Wojcicki, P" uniqKey="Wojcicki P">P Wojcicki</name></author><author><name sortKey="Kobus, K" uniqKey="Kobus K">K Kobus</name></author><author><name sortKey="Trzeciak, Wh" uniqKey="Trzeciak W">WH Trzeciak</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Thompson, Jt" uniqKey="Thompson J">JT Thompson</name></author><author><name sortKey="Anderson, Pj" uniqKey="Anderson P">PJ Anderson</name></author><author><name sortKey="David, Dj" uniqKey="David D">DJ David</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey=" Sterhus, In" uniqKey=" Sterhus I">IN Østerhus</name></author><author><name sortKey="Skogedal, N" uniqKey="Skogedal N">N Skogedal</name></author><author><name sortKey="Akre, H" uniqKey="Akre H">H Akre</name></author><author><name sortKey="Johnsen, U" uniqKey="Johnsen U">U Johnsen</name></author><author><name sortKey="Nordgarden, H" uniqKey="Nordgarden H">H Nordgarden</name></author><author><name sortKey=" Sten, P" uniqKey=" Sten P">P Åsten</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey=" Sten, P" uniqKey=" Sten P">P Åsten</name></author><author><name sortKey="Skogedal, N" uniqKey="Skogedal N">N Skogedal</name></author><author><name sortKey="Nordgarden, H" uniqKey="Nordgarden H">H Nordgarden</name></author><author><name sortKey="Axelsson, S" uniqKey="Axelsson S">S Axelsson</name></author><author><name sortKey="Akre, H" uniqKey="Akre H">H Akre</name></author><author><name sortKey="Sjogreen, L" uniqKey="Sjogreen L">L Sjögreen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Akre, H" uniqKey="Akre H">H Akre</name></author><author><name sortKey=" Verland, B" uniqKey=" Verland B">B Øverland</name></author><author><name sortKey=" Sten, P" uniqKey=" Sten P">P Åsten</name></author><author><name sortKey="Skogedal, N" uniqKey="Skogedal N">N Skogedal</name></author><author><name sortKey="Heimdal, K" uniqKey="Heimdal K">K Heimdal</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey=" Sten, P" uniqKey=" Sten P">P Åsten</name></author><author><name sortKey="Akre, H" uniqKey="Akre H">H Akre</name></author><author><name sortKey="Persson, C" uniqKey="Persson C">C Persson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Geirdal, A" uniqKey="Geirdal A">AØ Geirdal</name></author><author><name sortKey=" Verland, B" uniqKey=" Verland B">B Øverland</name></author><author><name sortKey="Heimdal, K" uniqKey="Heimdal K">K Heimdal</name></author><author><name sortKey="Storhaug, K" uniqKey="Storhaug K">K Storhaug</name></author><author><name sortKey="Asten, P" uniqKey="Asten P">P Asten</name></author><author><name sortKey="Akre, H" uniqKey="Akre H">H Akre</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ueki, Y" uniqKey="Ueki Y">Y Ueki</name></author><author><name sortKey="Tiziani, V" uniqKey="Tiziani V">V Tiziani</name></author><author><name sortKey="Santanna, C" uniqKey="Santanna C">C Santanna</name></author><author><name sortKey="Fukai, N" uniqKey="Fukai N">N Fukai</name></author><author><name sortKey="Maulik, C" uniqKey="Maulik C">C Maulik</name></author><author><name sortKey="Garfinkle, J" uniqKey="Garfinkle J">J Garfinkle</name></author><author><name sortKey="Ninomiya, C" uniqKey="Ninomiya C">C Ninomiya</name></author><author><name sortKey="Do Amaral, C" uniqKey="Do Amaral C">C do Amaral</name></author><author><name sortKey="Peters, H" uniqKey="Peters H">H Peters</name></author><author><name sortKey="Habal, M" uniqKey="Habal M">M Habal</name></author><author><name sortKey="Rhee Morris, L" uniqKey="Rhee Morris L">L Rhee-Morris</name></author><author><name sortKey="Doss, Jb" uniqKey="Doss J">JB Doss</name></author><author><name sortKey="Kreiborg, S" uniqKey="Kreiborg S">S Kreiborg</name></author><author><name sortKey="Olsen, Br" uniqKey="Olsen B">BR Olsen</name></author><author><name sortKey="Reichenberger, E" uniqKey="Reichenberger E">E Reichenberger</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Von Wowern, N" uniqKey="Von Wowern N">N von Wowern</name></author><author><name sortKey="Odont, D" uniqKey="Odont D">D Odont</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Roginsky, Vv" uniqKey="Roginsky V">VV Roginsky</name></author><author><name sortKey="Ivanov, Al" uniqKey="Ivanov A">AL Ivanov</name></author><author><name sortKey="Ovtchinnikov, Ia" uniqKey="Ovtchinnikov I">IA Ovtchinnikov</name></author><author><name sortKey="Khonsari, Rh" uniqKey="Khonsari R">RH Khonsari</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Prescott, T" uniqKey="Prescott T">T Prescott</name></author><author><name sortKey="Redfors, M" uniqKey="Redfors M">M Redfors</name></author><author><name sortKey="Rustad, Cf" uniqKey="Rustad C">CF Rustad</name></author><author><name sortKey="Eiklid, Kl" uniqKey="Eiklid K">KL Eiklid</name></author><author><name sortKey="Geirdal, A" uniqKey="Geirdal A">AØ Geirdal</name></author><author><name sortKey="Storhaug, K" uniqKey="Storhaug K">K Storhaug</name></author><author><name sortKey="Jensen, Jl" uniqKey="Jensen J">JL Jensen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kozakiewicz, M" uniqKey="Kozakiewicz M">M Kozakiewicz</name></author><author><name sortKey="Perczynska Partyka, W" uniqKey="Perczynska Partyka W">W Perczynska-Partyka</name></author><author><name sortKey="Kobos, J" uniqKey="Kobos J">J Kobos</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Meng, Xm" uniqKey="Meng X">XM Meng</name></author><author><name sortKey="Yu, Sf" uniqKey="Yu S">SF Yu</name></author><author><name sortKey="Yu, Gy" uniqKey="Yu G">GY Yu</name></author></analytic></biblStruct><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Schalk Van Der Weide, Y" uniqKey="Schalk Van Der Weide Y">Y Schalk van der Weide</name></author></analytic></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Freire Maya, N" uniqKey="Freire Maya N">N Freire-Maya</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bergendal, B" uniqKey="Bergendal B">B Bergendal</name></author><author><name sortKey="Mcallister, A" uniqKey="Mcallister A">A McAllister</name></author><author><name sortKey="Stecksen Blicks, C" uniqKey="Stecksen Blicks C">C Stecksén-Blicks</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nordgarden, H" uniqKey="Nordgarden H">H Nordgarden</name></author><author><name sortKey="Jensen, Jl" uniqKey="Jensen J">JL Jensen</name></author><author><name sortKey="Storhaug, K" uniqKey="Storhaug K">K Storhaug</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bergendal, B" uniqKey="Bergendal B">B Bergendal</name></author><author><name sortKey="Norderyd, J" uniqKey="Norderyd J">J Norderyd</name></author><author><name sortKey="B Gesund, M" uniqKey="B Gesund M">M Bågesund</name></author><author><name sortKey="Holst, A" uniqKey="Holst A">A Holst</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hobson, Rs" uniqKey="Hobson R">RS Hobson</name></author><author><name sortKey="Carter, Ne" uniqKey="Carter N">NE Carter</name></author><author><name sortKey="Gillgrass, Tj" uniqKey="Gillgrass T">TJ Gillgrass</name></author><author><name sortKey="Jepson, Nja" uniqKey="Jepson N">NJA Jepson</name></author><author><name sortKey="Meechan, Jg" uniqKey="Meechan J">JG Meechan</name></author><author><name sortKey="Nohl, F" uniqKey="Nohl F">F Nohl</name></author><author><name sortKey="Nunn, Jh" uniqKey="Nunn J">JH Nunn</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Arndt, Em" uniqKey="Arndt E">EM Arndt</name></author><author><name sortKey="Travis, F" uniqKey="Travis F">F Travis</name></author><author><name sortKey="Lefebvre, A" uniqKey="Lefebvre A">A Lefebvre</name></author><author><name sortKey="Munro, Ir" uniqKey="Munro I">IR Munro</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Pope, A" uniqKey="Pope A">A Pope</name></author><author><name sortKey="Ward, J" uniqKey="Ward J">J Ward</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kohli, R" uniqKey="Kohli R">R Kohli</name></author><author><name sortKey="Levy, S" uniqKey="Levy S">S Levy</name></author><author><name sortKey="Kummet, Cm" uniqKey="Kummet C">CM Kummet</name></author><author><name sortKey="Dawson, Dv" uniqKey="Dawson D">DV Dawson</name></author><author><name sortKey="Stanford, Cm" uniqKey="Stanford C">CM Stanford</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Pavlis, Mb" uniqKey="Pavlis M">MB Pavlis</name></author><author><name sortKey="Rice, Zp" uniqKey="Rice Z">ZP Rice</name></author><author><name sortKey="Veledar, E" uniqKey="Veledar E">E Veledar</name></author><author><name sortKey="Bradley, Br" uniqKey="Bradley B">BR Bradley</name></author><author><name sortKey="Spraker, Mk" uniqKey="Spraker M">MK Spraker</name></author><author><name sortKey="Chen, Sc" uniqKey="Chen S">SC Chen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kotecha, S" uniqKey="Kotecha S">S Kotecha</name></author><author><name sortKey="Turner, Pj" uniqKey="Turner P">PJ Turner</name></author><author><name sortKey="Dietrich, T" uniqKey="Dietrich T">T Dietrich</name></author><author><name sortKey="Dhopatkar, A" uniqKey="Dhopatkar A">A Dhopatkar</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Arnold, P" uniqKey="Arnold P">P Arnold</name></author><author><name sortKey="Chapman, M" uniqKey="Chapman M">M Chapman</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Diener, E" uniqKey="Diener E">E Diener</name></author><author><name sortKey="Wolsic, B" uniqKey="Wolsic B">B Wolsic</name></author><author><name sortKey="Fujita, F" uniqKey="Fujita F">F Fujita</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Atkin, K" uniqKey="Atkin K">K Atkin</name></author><author><name sortKey="Ahmad, W" uniqKey="Ahmad W">W Ahmad</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Broder, H" uniqKey="Broder H">H Broder</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hobkirk, Ja" uniqKey="Hobkirk J">JA Hobkirk</name></author><author><name sortKey="Brook, Ah" uniqKey="Brook A">AH Brook</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bjelland, I" uniqKey="Bjelland I">I Bjelland</name></author><author><name sortKey="Dahl, Aa" uniqKey="Dahl A">AA Dahl</name></author><author><name sortKey="Haug, Tt" uniqKey="Haug T">TT Haug</name></author><author><name sortKey="Neckelmann, D" uniqKey="Neckelmann D">D Neckelmann</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Zigmond, As" uniqKey="Zigmond A">AS Zigmond</name></author><author><name sortKey="Snaith, Rp" uniqKey="Snaith R">RP Snaith</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Olsson, I" uniqKey="Olsson I">I Olsson</name></author><author><name sortKey="Mykletun, A" uniqKey="Mykletun A">A Mykletun</name></author><author><name sortKey="Dahl, Aa" uniqKey="Dahl A">AA Dahl</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mykletun, A" uniqKey="Mykletun A">A Mykletun</name></author><author><name sortKey="Stordal, E" uniqKey="Stordal E">E Stordal</name></author><author><name sortKey="Dahl, Aa" uniqKey="Dahl A">AA Dahl</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cantril, H" uniqKey="Cantril H">H Cantril</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kaasa, S" uniqKey="Kaasa S">S Kaasa</name></author><author><name sortKey="Mastekaasa, A" uniqKey="Mastekaasa A">A Mastekaasa</name></author><author><name sortKey="Naess, S" uniqKey="Naess S">S Naess</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ware, Je" uniqKey="Ware J">JE Ware</name></author><author><name sortKey="Gandek, B" uniqKey="Gandek B">B Gandek</name></author><author><name sortKey="Kosinski, M" uniqKey="Kosinski M">M Kosinski</name></author><author><name sortKey="Aaronson, Nk" uniqKey="Aaronson N">NK Aaronson</name></author><author><name sortKey="Apolone, G" uniqKey="Apolone G">G Apolone</name></author><author><name sortKey="Brazier, J" uniqKey="Brazier J">J Brazier</name></author><author><name sortKey="Bullinger, M" uniqKey="Bullinger M">M Bullinger</name></author><author><name sortKey="Kaasa, S" uniqKey="Kaasa S">S Kaasa</name></author><author><name sortKey="Leplege, A" uniqKey="Leplege A">A Leplege</name></author><author><name sortKey="Prieto, L" uniqKey="Prieto L">L Prieto</name></author><author><name sortKey="Sullivan, M" uniqKey="Sullivan M">M Sullivan</name></author><author><name sortKey="Thunedborg, K" uniqKey="Thunedborg K">K Thunedborg</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ware, J" uniqKey="Ware J">J Ware</name></author><author><name sortKey="Kosinski, M" uniqKey="Kosinski M">M Kosinski</name></author><author><name sortKey="Keller, Sd" uniqKey="Keller S">SD Keller</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Loge, Jh" uniqKey="Loge J">JH Loge</name></author><author><name sortKey="Kaasa, S" uniqKey="Kaasa S">S Kaasa</name></author><author><name sortKey="Hjermstad, Mj" uniqKey="Hjermstad M">MJ Hjermstad</name></author><author><name sortKey="Kvien, Tk" uniqKey="Kvien T">TK Kvien</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hatfield, E" uniqKey="Hatfield E">E Hatfield</name></author><author><name sortKey="Sprecher, S" uniqKey="Sprecher S">S Sprecher</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Haas, Bk" uniqKey="Haas B">BK Haas</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Akram, Aj" uniqKey="Akram A">AJ Akram</name></author><author><name sortKey="Jerreat, As" uniqKey="Jerreat A">AS Jerreat</name></author><author><name sortKey="Woodford, J" uniqKey="Woodford J">J Woodford</name></author><author><name sortKey="Sandy, Jr" uniqKey="Sandy J">JR Sandy</name></author><author><name sortKey="Ireland, Aj" uniqKey="Ireland A">AJ Ireland</name></author></analytic></biblStruct><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Mehta, U" uniqKey="Mehta U">U Mehta</name></author><author><name sortKey="Brunworth, J" uniqKey="Brunworth J">J Brunworth</name></author><author><name sortKey="Fete, Tj" uniqKey="Fete T">TJ Fete</name></author><author><name sortKey="Sindwani, R" uniqKey="Sindwani R">R Sindwani</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Anweigi, L" uniqKey="Anweigi L">L Anweigi</name></author><author><name sortKey="Allen, Pf" uniqKey="Allen P">PF Allen</name></author><author><name sortKey="Ziada, H" uniqKey="Ziada H">H Ziada</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Qual Life Res</journal-id><journal-id journal-id-type="iso-abbrev">Qual Life Res</journal-id><journal-title-group><journal-title>Quality of Life Research</journal-title></journal-title-group><issn pub-type="ppub">0962-9343</issn><issn pub-type="epub">1573-2649</issn><publisher><publisher-name>Springer International Publishing</publisher-name><publisher-loc>Cham</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">25344415</article-id><article-id pub-id-type="pmc">4366539</article-id><article-id pub-id-type="publisher-id">826</article-id><article-id pub-id-type="doi">10.1007/s11136-014-0826-1</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia—a comparative study</article-title></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Geirdal</surname><given-names>Amy Østertun</given-names></name><address><phone>+47 48196620</phone><email>amy-ostertun.geirdal@hioa.no</email></address><xref ref-type="aff" rid="Aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Saltnes</surname><given-names>Solfrid Sørgjerd</given-names></name><xref ref-type="aff" rid="Aff2"></xref></contrib><contrib contrib-type="author"><name><surname>Storhaug</surname><given-names>Kari</given-names></name><xref ref-type="aff" rid="Aff2"></xref></contrib><contrib contrib-type="author"><name><surname>Åsten</surname><given-names>Pamela</given-names></name><xref ref-type="aff" rid="Aff2"></xref></contrib><contrib contrib-type="author"><name><surname>Nordgarden</surname><given-names>Hilde</given-names></name><xref ref-type="aff" rid="Aff2"></xref></contrib><contrib contrib-type="author"><name><surname>Jensen</surname><given-names>Janicke Liaaen</given-names></name><xref ref-type="aff" rid="Aff3"></xref></contrib><aff id="Aff1"><label></label>Faculty of Social Sciences, Oslo and Akershus University College of Applied Sciences, Oslo, Norway</aff><aff id="Aff2"><label></label>TAKO-Centre, Lovisenberg Diakonale Hospital, Oslo, Norway</aff><aff id="Aff3"><label></label>Department of Oral Surgery and Oral Medicine, Faculty of Dentistry, University of Oslo, Oslo, Norway</aff></contrib-group><pub-date pub-type="epub"><day>25</day><month>10</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>25</day><month>10</month><year>2014</year></pub-date><pub-date pub-type="ppub"><year>2015</year></pub-date><volume>24</volume><issue>4</issue><fpage>927</fpage><lpage>935</lpage><history><date date-type="accepted"><day>10</day><month>10</month><year>2014</year></date></history><permissions><copyright-statement>© The Author(s) 2014</copyright-statement><license license-type="OpenAccess"><license-p><bold>Open Access</bold>This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.</license-p></license></permissions><abstract id="Abs1"><sec><title>Purpose</title><p>The relationship between quality of life, psychological distress, and orofacial syndromes in children and adolescents has been reported in several studies. However, little is known about differences in psychological distress and quality of life among adults with different orofacial conditions. Therefore, the aims of this study were to examine and compare these factors among three groups of adults affected by Treacher Collins syndrome (TCS), cherubism, and oligodontia/ectodermal dysplasia (ED).</p></sec><sec><title>Methods</title><p>We included 11 individuals with TCS (mean age 46.9, SD 12.9 years), 15 with cherubism (mean age 50.3, SD 16.8 years), and 49 with oligodontia/ED (mean age 30.7, SD 15.6 years). The respondents completed questionnaires related to psychological distress and quality of life.</p></sec><sec><title>Results</title><p>The oligodontia/ED group had a significantly higher level of anxiety and worse mental health-related quality of life than both the TCS and cherubism groups. Adults with TCS reported the highest level of depression, and the lowest levels of overall quality of life, well-being, and physical health-related quality of life. The cherubism group displayed the best overall quality of life, well-being, and mental health.</p></sec><sec><title>Conclusions</title><p>Psychological distress and quality of life differed in various orofacial conditions. This study provided insight into these aspects that may contribute to improved care.</p></sec></abstract><kwd-group xml:lang="en"><title>Keywords</title><kwd>Psychological distress</kwd><kwd>Quality of life</kwd><kwd>Treacher Collins syndrome</kwd><kwd>Cherubism</kwd><kwd>Oligodontia/ectodermal dysplasia</kwd></kwd-group><custom-meta-group><custom-meta><meta-name>issue-copyright-statement</meta-name><meta-value>© Springer International Publishing Switzerland 2015</meta-value></custom-meta></custom-meta-group></article-meta></front><body><sec id="Sec1" sec-type="intro"><title>Introduction</title><p>Treacher Collins syndrome (TCS), cherubism, oligodontia, and ectodermal dysplasias (EDs) are all examples of rare genetic conditions that affect the orofacial complex. These conditions may affect the head, face, mouth, or neck region, and they may influence both appearance and function. The types of tissues affected and the level of severity vary among different diagnoses, and also among different individuals with the same diagnosis. Aberrations may also be found in organs other than the orofacial complex.</p><p>TCS is a rare autosomal-dominant condition, mainly caused by mutations in the <italic>TCOF1</italic> gene. The suggested minimal criteria for the diagnosis are downward-slanting palpebral fissures and hypoplasia of the zygomatic arches [<xref ref-type="bibr" rid="CR1">1</xref>]. Other frequent findings include hypoplasia of the mandible, cleft palate, lower eyelid coloboma, microtia, atresia of the ear canal, and hearing loss. No study has reported an association between the locations of the mutations and the expression of the TCS phenotype [<xref ref-type="bibr" rid="CR1">1</xref>, <xref ref-type="bibr" rid="CR2">2</xref>]. It is estimated that 60 % of cases arise from de novo mutations [<xref ref-type="bibr" rid="CR3">3</xref>]. Identical mutations in the same family may cause variable expressivity, and there are indications of increased severity over generations [<xref ref-type="bibr" rid="CR1">1</xref>]. Generally, there is need of management strategies lack multidisciplinary follow-up and treatment planning for respiration, hearing, skeletal growth, and orthodontic issues [<xref ref-type="bibr" rid="CR4">4</xref>]. Recent findings have indicated that adults with TCS may require multidisciplinary health services due to persistent sleep apnea, compromised oral health, and speech deficits [<xref ref-type="bibr" rid="CR5">5</xref>–<xref ref-type="bibr" rid="CR9">9</xref>].</p><p>Cherubism is a rare autosomal-dominant condition caused by mutations in the <italic>SH3BP2</italic> gene [<xref ref-type="bibr" rid="CR10">10</xref>]. It is characterized by symmetrical enlargement of the jaws in children, caused by the replacement of bone with fibrous tissue, which results in a rounded face. In the most severe cases, the orbital floor is affected, which results in upward-looking eyes; these features give the appearance of a cherub, as depicted in baroque paintings. Missing teeth, displaced teeth, and premature tooth loss are additional characteristics [<xref ref-type="bibr" rid="CR11">11</xref>–<xref ref-type="bibr" rid="CR13">13</xref>]. Diagnosis is typically based on a combination of clinical, radiographic, histological, and molecular findings, combined with a positive family history. The condition, which is normally painless, typically presents around 3 years of age. The facial swelling increases until puberty [<xref ref-type="bibr" rid="CR14">14</xref>] and then slowly resolves. According to Meng et al. [<xref ref-type="bibr" rid="CR15">15</xref>], the facial contours are often unremarkable on clinical examination by the age of 30 years. However, some cases do not resolve with age [<xref ref-type="bibr" rid="CR13">13</xref>]. According to a recent review article [<xref ref-type="bibr" rid="CR16">16</xref>], surgical treatment (curettage, contouring, or resection) is not indicated in mild cases, but may be necessary after puberty in moderate cases, during puberty in severe cases, or earlier when severe functional problems are present. Other treatment options, like medication with calcitonin and interferon, may be useful in the future.</p><p>The term oligodontia describes the congenital absence of six or more permanent teeth, third molars excluded [<xref ref-type="bibr" rid="CR17">17</xref>]. Oligodontia is associated with a delay in the development of other teeth and a relative lack of alveolar growth. Most individuals with oligodontia do not have other medical symptoms or findings [<xref ref-type="bibr" rid="CR18">18</xref>]. Oligodontia is common in many forms of ED. The EDs comprise a large, clinically and etiologically heterogeneous group of genetic disorders; at least 186 distinct pathological conditions have been recognized [<xref ref-type="bibr" rid="CR19">19</xref>]. No universally accepted classification for EDs has been achieved, but the clinical classification proposed by Freire-Maya [<xref ref-type="bibr" rid="CR20">20</xref>] is widely used. It is based on the “classical signs” of ED, as follows: (group A) abnormalities in hair, teeth, nail, and sweat glands (two findings or more) and (group B) defects in one of the mentioned structures, plus at least one other ectodermal defect. Individuals with EDs may exhibit deviations in orofacial functions such as chewing, swallowing, and speech [<xref ref-type="bibr" rid="CR21">21</xref>]. The orofacial symptoms of EDs overlap with those of oligodontia. Both conditions may alter appearance, and salivary secretion is often reduced [<xref ref-type="bibr" rid="CR22">22</xref>, <xref ref-type="bibr" rid="CR23">23</xref>]. The etiologies of the conditions are also overlapping, because the gene mutations that cause full blown EDs may also cause isolated oligodontia [<xref ref-type="bibr" rid="CR23">23</xref>]. Oral treatment may be challenging, and evaluation by a multidisciplinary team is frequently necessary for optimal treatment planning for individual patients. Achieving an ideal occlusion is not always possible [<xref ref-type="bibr" rid="CR24">24</xref>].</p><p>Former studies on psychological distress and quality of life (QoL) associated with orofacial disorders have mostly focused on children and adolescents. Facial appearance after reconstructive surgery in TCS was shown to have a direct positive influence on psychosocial factors [<xref ref-type="bibr" rid="CR25">25</xref>], as well as the researchers reported that some children with TCS showed elevated anxiety compared to unaffected children [<xref ref-type="bibr" rid="CR25">25</xref>]. Another study demonstrated that TCS was associated with increased social anxiety and dissatisfaction [<xref ref-type="bibr" rid="CR26">26</xref>]. In studies among children and adolescents with EDs, those aged 15–19 years showed worse oral health-related QoL in the subscale “functional limitations,” compared to those aged 10–14 years. Moreover, females experienced more emotional problems than males [<xref ref-type="bibr" rid="CR27">27</xref>]. In children with hypohidrotic forms of ED, QoL was influenced most by the reduced sweating [<xref ref-type="bibr" rid="CR28">28</xref>]. Hypodontia, per se, has been found to impact QoL in children, because it results in functional limitations, which reduce social and emotional well-being [<xref ref-type="bibr" rid="CR29">29</xref>]. In adults, QoL was most affected by actual symptoms and findings of EDs, and the emotional and social consequences had less impact [<xref ref-type="bibr" rid="CR28">28</xref>]. Physical attractiveness is known to contribute to a positive self-concept and social well-being [<xref ref-type="bibr" rid="CR26">26</xref>, <xref ref-type="bibr" rid="CR30">30</xref>–<xref ref-type="bibr" rid="CR33">33</xref>]. In the worst cases of EDs, the face has an edentulous appearance, which can lead to considerable psychological disturbance [<xref ref-type="bibr" rid="CR34">34</xref>].</p><p>To our knowledge, few researchers have examined psychological distress and QoL in adults with orofacial disfigurements, and no studies have compared adults affected by different conditions. Therefore, this study aimed to examine and describe differences in psychological distress and QoL between groups of individuals affected by TCS, cherubism, and oligodontia/EDs. We hypothesized that living with facial disfigurement would affect QoL, well-being, and mental health. In light of the differences in congenital orofacial disfigurements, we anticipated that the TCS group may experience more psychological distress and worse QoL than the other two groups.</p></sec><sec id="Sec2" sec-type="materials|methods"><title>Materials and methods</title><sec id="Sec3"><title>Participants</title><sec id="Sec4"><title>TCS</title><p>Between December 2008 and May 2009, we invited all individuals with TCS that had registered at the National Resource Centre for Oral Health in Rare conditions (TAKO-center), the Centre for Rare Disorders (SSD), and the Craniofacial team at Oslo University Hospital, Rikshospitalet (<italic>n</italic> = 36) to participate in a study. The study included an extensive health examination and the completion of questionnaires on psychological distress and QoL [<xref ref-type="bibr" rid="CR6">6</xref>, <xref ref-type="bibr" rid="CR7">7</xref>]. Twenty-three individuals (64 %) with TCS accepted the invitation. Of these, 10 participants were under 18 years of age, and therefore, they were not included in this part of the study. Two of the remaining 13 responders were excluded, due to an unconfirmed TCS diagnosis [<xref ref-type="bibr" rid="CR7">7</xref>]. Thus, this study included a total of 11 adults (65 %) aged >18 years. Among these, four had mild and seven had severe TCS phenotypes, according to the severity scoring system developed by Teber et al. [<xref ref-type="bibr" rid="CR1">1</xref>, <xref ref-type="bibr" rid="CR7">7</xref>]. Eight participants had undergone reconstructive surgery in the eye, ear, and/or zygomatic regions [<xref ref-type="bibr" rid="CR6">6</xref>]; six participants had received orthodontic treatment. Seven patients presented with moderate to profound hearing impairments [<xref ref-type="bibr" rid="CR8">8</xref>]. Polysomnography demonstrated sleep apnea in all eleven participants [<xref ref-type="bibr" rid="CR7">7</xref>]. Facial asymmetry was identified by assessing orofacial function with the Nordic Orofacial Test Screen (NOT-S) [<xref ref-type="bibr" rid="CR6">6</xref>]. Minor speech aberrations were common [<xref ref-type="bibr" rid="CR8">8</xref>].</p></sec><sec id="Sec5"><title>Cherubism</title><p>We previously identified 28 individuals in Norway with cherubism. They were partly known at the TAKO-centre (15) or through family members (6) and partly recruited by contacting all oral and maxillofacial surgeons and orthodontists in Norway (7). Of these 28 patients, 26 underwent genetic screening, and 24 tested positive for mutations in <italic>SH3BP2</italic>. Among these individuals with genetically verified cherubism, 22 participated in a study where they had provided a patient history and attended oral, clinical, and radiologic examinations. They also completed forms for assessing psychological distress and QoL. All participants underwent a full day of examinations, interviews, and clinical genetics consultations in Oslo between September 2009 and December 2011 [<xref ref-type="bibr" rid="CR13">13</xref>]. Of these 22 individuals, 15 (68 %) were aged >18 years and were included in the present study. Many of these patients had received extensive surgical and dental treatments; 13 patients had undergone one or more surgical procedures for tooth removal, exposure, or transplantation; curettage of intra-bony soft tissue; or contouring; 11 patients had tooth replacements (removable or fixed dentures or dental implants).</p></sec><sec id="Sec6"><title>Oligodontia/ED</title><p>All individuals aged 16 years or older that had registered with ED and/or oligodontia at the TAKO-centre were invited to participate in a multidisciplinary study that included questionnaires on QoL and psychological distress. Out of 54 responders (66 %), 49 (91 %) were aged ≥18 years and were included in this study. All individuals lacked a minimum of six teeth, excluding third molars. Other affected ectodermal tissues included skin (<italic>n</italic> = 27; 55.1 %), hair (<italic>n</italic> = 20; 40.8 %), nails (<italic>n</italic> = 19; 38.8 %), and sweat glands (<italic>n</italic> = 10; 20.4 %). In the oligodontia/ED group, 33 of 49 adults had received tooth replacements.</p></sec></sec><sec id="Sec7"><title>Demographics</title><p>We recorded demographic characteristics including age, family situation, educational level, and work status.</p></sec><sec id="Sec8"><title>Psychological distress</title><sec id="Sec9"><title>Hospital anxiety and depression scale (HADS)</title><p>The HADS measures self-reported levels of distress [<xref ref-type="bibr" rid="CR35">35</xref>]. It was originally developed to identify cases of anxiety and depression among patients in non-psychiatric hospitals [<xref ref-type="bibr" rid="CR36">36</xref>]. It is a 14-item questionnaire with two subscales: anxiety (HADS-A) and depression (HADS-D). Each subscale has seven items rated on a 4-point Likert-style scale from 0 (not present) to 3 (maximally present). The HADS-A and HADS-D score sums ranged from 0 to 21. Based on receiver operating characteristics, a sum ≥8 on each subscale was used as a cutoff score to identify cases of possible anxiety and depression disorders, which may require further clinical examination [<xref ref-type="bibr" rid="CR35">35</xref>, <xref ref-type="bibr" rid="CR37">37</xref>]. A previous study demonstrated that the psychometric properties of the Norwegian version of the HADS were excellent [<xref ref-type="bibr" rid="CR38">38</xref>].</p></sec></sec><sec id="Sec10"><title>Quality of life</title><sec id="Sec11"><title>Overall quality of life</title><p>Cantril’s Self-Anchoring Ladder (CL) is a self-administered questionnaire that assesses overall QoL with one question: “How is your life?”. It asks respondents to rate their present experiences with life on a scale anchored by their own identified values. The response alternatives are between 0 and 10, with 0 = worst possible QoL and 10 = best possible QoL [<xref ref-type="bibr" rid="CR39">39</xref>].</p><p>The psychosocial well-being questionnaire, or Kaasa’s test, assesses psychosocial experience of well-being. It consists of five positive and five negative statements, rated from 1 (highest QoL) to 5 (lowest QoL) [<xref ref-type="bibr" rid="CR40">40</xref>]. In addition, the test includes two single items of overall QoL, happiness and satisfaction, with the ranges of 1 (highest) to 7 (lowest).</p></sec><sec id="Sec12"><title>Health-related quality of life</title><p>The Short Form 36 (SF-36) [<xref ref-type="bibr" rid="CR41">41</xref>] is a multipurpose, generic, self-administered, health-related QoL questionnaire. It includes 36 items rated on eight scales (aggregating 2–10 items each) and the two summary measures Physical Component Scale (PCS) and Mental Component Scale (MCS). The four PCS scales are physical functioning (PF), role limitation owing to physical health problems (RP), bodily pain (BP) which addresses the degree of pain interfering with participation in various activities of everyday life, and general health (GH).The vitality (VT), social functioning (SF), role limitations due to emotional problems (RE), and mental health (MH) comprise the MCS scale.</p><p>According to standard SF-36 scoring, all information was transformed to a scale of 0 (worst) to 100 (best). Based on T-transformations, both PCS and MCS have a mean of 50 and a standard deviation of 10 in the US general population. An individual with a score <40 on both PCS and MCS is defined as a case of poor QoL that requires treatment or help in improving the QoL [<xref ref-type="bibr" rid="CR41">41</xref>]. The SF-36 scale has been extensively validated [<xref ref-type="bibr" rid="CR42">42</xref>, <xref ref-type="bibr" rid="CR43">43</xref>].</p></sec></sec><sec id="Sec13"><title>Statistics</title><p>Significant differences between groups in demographic variables, psychological distress, and QoL were analyzed, depending on the distribution of variables, with parametric tests (<italic>t</italic> test, one-way ANOVA, pairwise comparisons with Bonferonni test) or with nonparametric tests (Kruskal–Wallis, Mann–Whitney <italic>U</italic>). The TCS and cherubism groups showed normal distribution curves on all dependent variables. The oligodontia/ED group showed minor deviations on a few of the dependent variables. However, these deviations had low impact, due to the sufficiently large size of the oligodontia/ED group; therefore, all variables were analyzed with parametric tests. The nonparametric tests were used for groups with small sample sizes (TCS and cherubism groups) and when any deviations were found in the normal distribution curves. Thus, the Kruskal–Wallis one-way analysis of variance (ANOVA) was used to analyze between-group differences. When significant differences were found, pairwise comparisons were performed with the Mann–Whitney <italic>U</italic> test. However, the latter test did not affect the results; therefore, the results are presented based on the parametric tests only. Pearson’s chi-squared statistic was used to test for significant differences between categorical variables. To estimate the reliability of test scores from the scale measures for the sample of responders, we evaluated the internal consistency with Cronbach’s coefficient <italic>α.</italic> We considered Cronbach’s coefficient <italic>α</italic> values >0.60 acceptable, >0.70 good, and >0.90 excellent. The analyses were performed with PASW Statistics 20.0 for Windows (SPSS Inc, Chicago, IL). The level of statistical significance was set at <italic>p</italic> <italic>≤</italic> 0.05.</p></sec><sec id="Sec14"><title>Ethics</title><p>This study recruitment procedures and protocol on individuals with cherubism, TCS, and oligodontia/ED were approved by the Norwegian Regional Committee of Ethics in Medical Research as well as the Norwegian Data Inspectorate at Oslo University Hospital. All participants gave written informed consent prior to inclusion in the study.</p></sec></sec><sec id="Sec15" sec-type="results"><title>Results</title><p>Demographics are shown in Table <xref rid="Tab1" ref-type="table">1</xref>. Individuals with oligodontia/ED were younger than those with TCS and cherubism, but no other significant differences were established.<table-wrap id="Tab1"><label>Table 1</label><caption><p>Demographics</p></caption><table frame="hsides" rules="groups"><thead><tr><th align="left"></th><th align="left">TCS<break></break><italic>N</italic> = 11</th><th align="left">Cherubism<break></break><italic>N</italic> = 15</th><th align="left">Oligodontia/ED<break></break><italic>N</italic> = 49</th></tr></thead><tbody><tr><td align="left">Age, years (mean/SD)</td><td char="(" align="char">46.8 (12.9)<sup>##</sup></td><td char="(" align="char">50.3 (16. 8)*</td><td char="(" align="char">32.2 (12.9)*</td></tr><tr><td align="left" colspan="4">Civil status, <italic>N</italic> (%)</td></tr><tr><td align="left"> Paired relation</td><td char="(" align="char">7 (58)</td><td char="(" align="char">9 (60)</td><td char="(" align="char">20 (41)</td></tr><tr><td align="left"> Non-paired relation</td><td char="(" align="char">4 (42)</td><td char="(" align="char">6 (40)</td><td char="(" align="char">29 (59)</td></tr><tr><td align="left" colspan="4">Educational level, <italic>N</italic> (%)</td></tr><tr><td align="left"> ≤12 years</td><td char="(" align="char">5 (42)</td><td char="(" align="char">8 (53)</td><td char="(" align="char">27 (55)</td></tr><tr><td align="left"> ≥13 years</td><td char="(" align="char">6 (58)</td><td char="(" align="char">7 (47)</td><td char="(" align="char">22 (45)</td></tr><tr><td align="left" colspan="4">Employment, <italic>N</italic> (%)</td></tr><tr><td align="left"> Yes</td><td char="(" align="char">8 (67)</td><td char="(" align="char">12 (75)</td><td char="(" align="char">26 (53)</td></tr><tr><td align="left"> No</td><td char="(" align="char">3 (33)</td><td char="(" align="char">3 (25)</td><td char="(" align="char">23 (47)</td></tr></tbody></table><table-wrap-foot><p><italic>TCS</italic> Treacher Collins syndrome, <italic>ED</italic> ectodermal dysplasia</p><p>* <italic>p</italic> < 0.001, significant differences between cherubism and oligodontia/ED</p><p><sup>##</sup><italic>p</italic> < 0.01, significant differences between TCS and oligodontia/ED</p></table-wrap-foot></table-wrap></p><sec id="Sec16"><title>Psychological distress (HADS)</title><p>One-way ANOVAs revealed statistically significant differences among the three different groups in anxiety and depression; the Bonferonni analysis suggested that the oligodontia/ED group had a significantly higher level of anxiety than both the other groups. Among the three groups, the TCS group showed the highest level of depression (Table <xref rid="Tab2" ref-type="table">2</xref>). Cronbach’s <italic>α</italic> for oligodontia/ED, TCS, and cherubism were 0.70, 0.73, and 0.71, respectively, for the HADS-A; and 0.73, 0.70, and 0.65, respectively, for the HADS-D. These estimations indicated good internal consistency.<table-wrap id="Tab2"><label>Table 2</label><caption><p>Differences in anxiety and depression across groups</p></caption><table frame="hsides" rules="groups"><thead><tr><th align="left" rowspan="2"></th><th align="left" colspan="2">TCS</th><th align="left" colspan="2">Cherubism</th><th align="left" colspan="2">Oligodontia/ED</th><th align="left" rowspan="2"><italic>p</italic><sup>a</sup></th></tr><tr><th align="left">Mean</th><th align="left">SD</th><th align="left">Mean</th><th align="left">SD</th><th align="left">Mean</th><th align="left">SD</th></tr></thead><tbody><tr><td align="left">HADS-A</td><td align="left">3.18</td><td align="left">2.71</td><td align="left">2.46</td><td align="left">2.11</td><td align="left">6.96<sup>§§,###</sup></td><td align="left">3.73</td><td char="." align="char"><0.001</td></tr><tr><td align="left">HADS-A cases, <italic>N</italic> (%)</td><td align="left">1 (9)</td><td align="left"></td><td align="left">0</td><td align="left"></td><td align="left">25 (51)</td><td align="left"></td><td align="left"></td></tr><tr><td align="left">HADS-D</td><td align="left">4.53<sup>#</sup></td><td align="left">3.44</td><td align="left">0.85</td><td align="left">1.34</td><td align="left">3.51<sup>#</sup></td><td align="left">3.47</td><td char="." align="char"><0.001</td></tr><tr><td align="left">HADS-D cases, <italic>N</italic> (%)</td><td align="left">1 (9)</td><td align="left"></td><td align="left">0</td><td align="left"></td><td align="left">6 (12)</td><td align="left"></td><td align="left"></td></tr></tbody></table><table-wrap-foot><p><italic>HADS-A</italic> hospital anxiety and depression anxiety score-anxiety, <italic>HADS-D</italic> hospital anxiety and depression score-depression, <italic>TCS</italic> Treacher Collins syndrome, <italic>ED</italic> ectodermal dysplasia</p><p><sup>a</sup><italic>p</italic> was based on ANOVA</p><p><sup>#</sup><italic>p</italic> < 0.05; <sup>###</sup> <italic>p</italic> < 0.001 compared to cherubism</p><p><sup>§§</sup><italic>p</italic> < 0.01 compared to TCS</p></table-wrap-foot></table-wrap></p></sec><sec id="Sec17"><title>Quality of life</title><sec id="Sec18"><title>Overall QoL and psychosocial well-being</title><p>Table <xref rid="Tab3" ref-type="table">3</xref> reveals that the cherubism group had significantly better overall QoL, satisfaction, and happiness than both the TCS and oligodontia/ED groups. The poorest well-being was found among adults with TCS.<table-wrap id="Tab3"><label>Table 3</label><caption><p>Differences in quality of life across groups</p></caption><table frame="hsides" rules="groups"><thead><tr><th align="left" rowspan="2"></th><th align="left" colspan="2">TCS</th><th align="left" colspan="2">Cherubism</th><th align="left" colspan="2">Oligodontia/ED</th><th align="left" rowspan="2"><italic>p</italic><sup>a</sup></th></tr><tr><th align="left">Mean</th><th align="left">SD</th><th align="left">Mean</th><th align="left">SD</th><th align="left">Mean</th><th align="left">SD</th></tr></thead><tbody><tr><td align="left" colspan="8">Overall quality of life</td></tr><tr><td align="left"> Cantril’s self-anchoring ladder (CL)</td><td align="left">6.36</td><td char="." align="char">2.58</td><td align="left">9.00<sup>§§,</sup>**</td><td char="." align="char">0.86</td><td align="left">7.37</td><td char="." align="char">1.94</td><td align="left">0.002</td></tr><tr><td align="left" colspan="8">Psychosocial well-being</td></tr><tr><td align="left" colspan="8"> Kaasa’s test</td></tr><tr><td align="left"> Well-being</td><td align="left">3.76***<sup>,##</sup></td><td char="." align="char">0.77</td><td align="left">2.82</td><td char="." align="char">0.14</td><td align="left">2.29</td><td char="." align="char">0.72</td><td align="left"><0.001</td></tr><tr><td align="left"> Happiness</td><td align="left">2.82</td><td char="." align="char">0.60</td><td align="left">1.77*</td><td char="." align="char">0.60</td><td align="left">2.66</td><td char="." align="char">1.27</td><td align="left">0.027</td></tr><tr><td align="left"> Satisfaction</td><td align="left">2.36</td><td char="." align="char">0.67</td><td align="left">1.32*</td><td char="." align="char">1.62</td><td align="left">2.55</td><td char="." align="char">1.32</td><td align="left">0.360</td></tr><tr><td align="left" colspan="8">Health-related quality of life</td></tr><tr><td align="left" colspan="8"> SF-36</td></tr><tr><td align="left"> Physical functioning</td><td align="left">77.72*<sup>,#</sup></td><td char="." align="char">19.55</td><td align="left">92.33</td><td char="." align="char">14.86</td><td align="left">91.63</td><td char="." align="char">14.12</td><td align="left">0.021</td></tr><tr><td align="left"> Role physical</td><td align="left">90.63</td><td char="." align="char">18.60</td><td align="left">91.07</td><td char="." align="char">21.05</td><td align="left">85.20</td><td char="." align="char">24.16</td><td align="left">Ns</td></tr><tr><td align="left"> Bodily pain</td><td align="left">30.65*<sup>,#</sup></td><td char="." align="char">9.24</td><td align="left">86.07</td><td char="." align="char">18.71</td><td align="left">75.87</td><td char="." align="char">27.58</td><td align="left">0.030</td></tr><tr><td align="left"> General health</td><td align="left">69.36</td><td char="." align="char">17.57</td><td align="left">78.88</td><td char="." align="char">19.30</td><td align="left">73.97</td><td char="." align="char">24.23</td><td align="left">Ns</td></tr><tr><td align="left"> Vitality</td><td align="left">54.54</td><td char="." align="char">15.57</td><td align="left">63.78</td><td char="." align="char">12.76</td><td align="left">58.30</td><td char="." align="char">24.79</td><td align="left">Ns</td></tr><tr><td align="left"> Social functioning</td><td align="left">81.81</td><td char="." align="char">26.43</td><td align="left">96.97</td><td char="." align="char">12.89</td><td align="left">82.81</td><td char="." align="char">27.72</td><td align="left">Ns</td></tr><tr><td align="left"> Role emotional</td><td align="left">93.80</td><td char="." align="char">26.43</td><td align="left">96.66</td><td char="." align="char">12.90</td><td align="left">65.78<sup>§§§,###</sup></td><td char="." align="char">18.34</td><td align="left"><0.001</td></tr><tr><td align="left"> Mental health</td><td align="left">81.09</td><td char="." align="char">14.43</td><td align="left">82.20</td><td char="." align="char">14.67</td><td align="left">74.45</td><td char="." align="char">20.16</td><td align="left">Ns</td></tr><tr><td align="left"> Physical component scale (PCS)</td><td align="left">42.97**<sup>,##</sup></td><td char="." align="char">10.30</td><td align="left">52.1</td><td char="." align="char">8.56</td><td align="left">52.93</td><td char="." align="char">7.92</td><td align="left">0.003</td></tr><tr><td align="left"> PCS case, <italic>N</italic> (%)</td><td align="left">4 (40)</td><td align="left"></td><td align="left">2 (13)</td><td align="left"></td><td align="left">5 (10)</td><td align="left"></td><td align="left"></td></tr><tr><td align="left"> Mental component scale (MCS)</td><td align="left">54.20</td><td char="." align="char">9.55</td><td align="left">54.29</td><td char="." align="char">5.42</td><td align="left">46.24<sup>§§,##</sup></td><td char="." align="char">8.26</td><td align="left">0.001</td></tr><tr><td align="left"> MCS case, <italic>N</italic> (%)</td><td align="left">1 (9)</td><td align="left"></td><td align="left">0</td><td align="left"></td><td align="left">11 (23)</td><td align="left"></td><td align="left"></td></tr></tbody></table><table-wrap-foot><p><italic>TCS</italic> Treacher Collins syndrome, <italic>ED</italic> ectodermal dysplasia</p><p><sup>a</sup><italic>P</italic> was based on ANOVA</p><p>Ns = nonsignificant, based on ANOVA</p><p>* <italic>p</italic> < 0.05; ** <italic>p</italic> < 0.01; and *** <italic>p</italic> < 0.001, compared to oligodontia/ED</p><p><sup>#</sup><italic>p</italic> < 0.05; <sup>##</sup> <italic>p</italic> < 0.01; <sup>###</sup> <italic>p</italic> < 0.001, compared to cherubism</p><p><sup>§§</sup> <italic>p</italic> < 0.01; <sup>§§§</sup> <italic>p</italic> < 0.001, compared to TCS</p></table-wrap-foot></table-wrap></p><p>Kaasa’s test showed good internal consistency, with Cronbach’s <italic>α</italic> values of 0.84, 0.74, and 0.87 for TCS, cherubism, and oligodontia/ED, respectively.</p></sec><sec id="Sec19"><title>Health-related QoL</title><p>Significant differences in health-related QoL were found among the groups in physical functioning, bodily pain, emotional-role limitations, and in the component scores, PCS and MCS. The TCS group showed the poorest physical functioning, bodily pain, and PCS, and the oligodontia/ED group showed the poorest emotional-role limitations and MCS (Table <xref rid="Tab3" ref-type="table">3</xref>).</p><p>The SF-36 results showed good internal consistency, with Cronbach’s <italic>α</italic> values between 0.72 (mental health) and 0.89 (emotional-role limitations) in the TCS group; 0.61 (bodily pain) and 0.87 (physical-role limitations) in the cherubism group; and 0.74 (bodily pain) and 0.93 (physical-role limitations) in the oligodontia/ED group. These values were considered acceptable in all three groups.</p></sec></sec></sec><sec id="Sec20" sec-type="discussion"><title>Discussion</title><p>To our knowledge, this was the first study to compare psychological distress and QoL among adults with three different genetic conditions that affected the orofacial complex. Our main findings were that psychological distress and QoL differed among the various orofacial conditions. Individuals with TCS reported the most severe depression, the least well-being, and worst physical QoL. On the other hand, the oligodontia/ED group showed the highest level of anxiety and the poorest mental QoL. The cherubism group showed the best overall QoL and experienced the most satisfaction and happiness.</p><p>Cherubism develops in childhood and improves over time, in the sense that the condition changes to a near normal appearance in most adults. In contrast, TCS and oligodontia/ED are permanent states of congenital facial disfigurement. The disfigurement in TCS is frequently worse than that observed in oligodontia/ED. In both diagnoses, advanced interdisciplinary surgical and dental treatment may improve oral functions over time. For example, the replacement of missing teeth and alveolar bone are often performed in oligodontia/ED, and multiple corrections of micrognathia and malocclusion are common in TCS. However, these treatments are long-term processes and may cause psychological burden. EDs may also be associated with other dysfunctions, such as the lack of a capacity to sweat, low salivary secretion, and dry eyes. TCS is also accompanied by physical symptoms, like reduced salivary secretion, which can affect oral health and eating [<xref ref-type="bibr" rid="CR5">5</xref>, <xref ref-type="bibr" rid="CR6">6</xref>]. In addition, TCS is characterized by congenital hearing loss in moderate- to-severe degree [<xref ref-type="bibr" rid="CR8">8</xref>].</p><p>The TCS group showed significantly higher levels of depression compared to the two other groups. Depression is often a response to loss. For a person with orofacial disfigurement, loss may be related to the absence of a “normal” appearance. According to Hatfield and Sprecher [<xref ref-type="bibr" rid="CR44">44</xref>], physical appearance is important in the development of interpersonal relationships, and physical attractiveness is known to contribute to a positive self-concept and social well-being [<xref ref-type="bibr" rid="CR31">31</xref>]. Based on discussions and clinical experience, individuals with TCS, from time to time, experienced glaring eyes and sometimes rejection, due to their facial disfigurement. These factors may partly explain why the TCS group experienced worse overall QoL and well-being than the other groups. QoL factors, like satisfaction with life, happiness, and a feeling of well-being, are subjective terms that refer to the individual achievement of one’s goals [<xref ref-type="bibr" rid="CR45">45</xref>]. A gap between one’s expectations and the reality of life may cause depression, and thereby, reduce the QoL. The higher level of depression in the TCS group may indicate that living with TCS includes more obstacles to participating in everyday life than living with the other two conditions.</p><p>It was previously reported that all adults of the current TCS study group had obstructive sleep apnea (OSA) [<xref ref-type="bibr" rid="CR7">7</xref>]. More than 70 % had moderate-to-severe OSA, and the severity of OSA was significantly associated with reduced physical health-related QoL [<xref ref-type="bibr" rid="CR9">9</xref>]. This association may explain the report that physical health-related QoL was worse in the TCS group than in the oligodontia/ED and cherubism groups.</p><p>The oligodontia/ED group showed the highest level of anxiety. Anxiety is related to worry and uncertainty about the future. The fact that more than 50 % of individuals with oligodontia/ED had anxiety scores above the level that requires treatment may provide insight into this condition. The differences among the groups may be related to differences in stressors; thus, adults in the oligodontia/ED group may experience a different type of stress than adults in the other groups. For example, many individuals with oligodontia/ED have noticeable spaces between the teeth, which may cause significant teasing and bullying in adolescence [<xref ref-type="bibr" rid="CR46">46</xref>]. At some stage in adulthood, these individuals often undergo extensive prosthodontic treatment. However, Norway lacks a coordinated approach for offering appropriate dental services to individuals with oligodontia/ED. A qualitative study performed in Ireland has shown that delays in completing dental treatment caused considerable frustration in patients with oligodontia/ED [<xref ref-type="bibr" rid="CR47">47</xref>]. In another study that included children and adolescents with TCS, the main findings showed that improved facial appearance after reconstructive surgery had a positive influence on psychosocial and social factors [<xref ref-type="bibr" rid="CR27">27</xref>]. This may also apply to adults with TCS; in most cases, the adults in the present study had completed surgical treatments, and hence, they were more likely to experience less anxiety than individuals in the oligodontia/ED group.</p><p>In addition to the high level of anxiety, the oligodontia/ED group presented the poorest mental health-related QoL. This finding was consistent with results from Mehta et al. [<xref ref-type="bibr" rid="CR48">48</xref>], who found that emotional distress was highly prevalent in adults with ED. Hypodontia, per se, was found to impact QoL in children, because it resulted in functional limitations and reduced social and emotional well-being [<xref ref-type="bibr" rid="CR29">29</xref>]. Furthermore, Anweigi et al. [<xref ref-type="bibr" rid="CR49">49</xref>] reported that non-syndromal hypodontia had a substantial impact on oral health-related QoL and that functional limitations increased with age. In the present study, the mean age of individuals in the oligodontia/ED group was significantly younger than that of individuals in the other groups; thus, it is possible that we may have underestimated the impact of this condition on psychological distress and QoL.</p><p>Few studies are available that investigated psychological distress and QoL in individuals with cherubism. In a recently published study, Prescott et al. [<xref ref-type="bibr" rid="CR13">13</xref>] found that QoL among individuals with cherubism was not significantly different from QoL in an age and gender-adjusted sample of the general Norwegian population. In the present study, individuals with cherubism reported the least psychological distress and the highest level of QoL among the three groups. Thus, we confirmed the findings from Prescott et al. that individuals with cherubism appear to be well-adjusted on a group level. However, it is important to offer individuals with cherubism personalized healthcare services.</p><p>One strength of this study was that we used established, validated, self-rating measures. The three conditions studied are rare, and therefore, another strength was that we invited all registered adult individuals with TCS and cherubism in Norway to participate in the study. It was relatively easy to recruit these individuals through national registry services. Because oligodontia/ED comprises a larger group than TCS and cherubism, treatment is offered by many different institutions. Hence, there was no single registry that contained a complete listing of individuals with oligodontia/ED in Norway. All patients registered at the TAKO-centre with oligodontia/ED were invited to participate, and patients from all parts of Norway responded. This recruitment approach yielded an adequate sample; moreover, we assume that our findings can be generalized to all Norwegian individuals with these conditions. However, the study had some limitations. It was a cross-sectional study; thus, our results revealed important knowledge about various aspects of psychological distress and QoL related to a particular disease status, but we could not determine whether these parameters might change over time.</p><sec id="Sec21"><title>Clinical implications</title><p>We found that living with orofacial disfigurement caused psychological distress, and it reduced the QoL to varying extents among the different groups. Social and healthcare services should focus on alleviating the high level of anxiety and low mental QoL in adults with oligodontia/ED; moreover, management strategies should include genetic counseling. In addition, healthcare services should focus on alleviating depression and low physical QoL in individuals with TCS.</p></sec></sec><sec id="Sec22" sec-type="conclusions"><title>Conclusions</title><p>This study showed that psychological distress and QoL differed among individuals with TCS, cherubism, and oligodontia/ED. The oligodontia/ED group was characterized by a high level of anxiety and reduced mental QoL. The TCS group experienced a high level of depression and reduced physical QoL. Finally, the cherubism group experienced less psychological distress and better QoL than the other two groups included in this study.</p></sec></body><back><ack><p>We thank all the patients for their contributions to this study.</p><sec id="d30e1621"><title>Conflict of interest</title><p>The authors declare that they have no conflicts of interest.</p></sec></ack><ref-list id="Bib1"><title>References</title><ref id="CR1"><label>1.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Teber</surname><given-names>OA</given-names></name><name><surname>Gillessen-Kaesbach</surname><given-names>G</given-names></name><name><surname>Fischer</surname><given-names>S</given-names></name><name><surname>Bohringer</surname><given-names>S</given-names></name><name><surname>Albrecht</surname><given-names>B</given-names></name><name><surname>Albert</surname><given-names>A</given-names></name><name><surname>Arslan-Kirchner</surname><given-names>M</given-names></name><name><surname>Haan</surname><given-names>E</given-names></name><name><surname>Hagedorn-Greiwe</surname><given-names>M</given-names></name><name><surname>Hammans</surname><given-names>C</given-names></name><name><surname>Henn</surname><given-names>W</given-names></name><name><surname>Hinkel</surname><given-names>GK</given-names></name><name><surname>Konig</surname><given-names>R</given-names></name><name><surname>Kunstmann</surname><given-names>E</given-names></name><name><surname>Kunze</surname><given-names>J</given-names></name><name><surname>Neumann</surname><given-names>LM</given-names></name><name><surname>Prott</surname><given-names>EC</given-names></name><name><surname>Rauch</surname><given-names>A</given-names></name><name><surname>Rott</surname><given-names>HD</given-names></name><name><surname>Seidel</surname><given-names>H</given-names></name><name><surname>Spranger</surname><given-names>S</given-names></name><name><surname>Sprengel</surname><given-names>M</given-names></name><name><surname>Zoll</surname><given-names>B</given-names></name><name><surname>Lohmann</surname><given-names>DR</given-names></name><name><surname>Wieczorek</surname><given-names>D</given-names></name></person-group><article-title>Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation</article-title><source>European Journal of Human Genetics</source><year>2004</year><volume>12</volume><issue>11</issue><fpage>879</fpage><lpage>890</lpage><pub-id pub-id-type="doi">10.1038/sj.ejhg.5201260</pub-id><pub-id pub-id-type="pmid">15340364</pub-id></element-citation></ref><ref id="CR2"><label>2.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Edwards</surname><given-names>SJ</given-names></name><name><surname>Gladwin</surname><given-names>AJ</given-names></name><name><surname>Dixon</surname><given-names>MJ</given-names></name></person-group><article-title>The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon</article-title><source>American Journal of Human Genetics</source><year>1997</year><volume>60</volume><issue>3</issue><fpage>515</fpage><lpage>524</lpage><pub-id pub-id-type="pmid">9042910</pub-id></element-citation></ref><ref id="CR3"><label>3.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Marszalek</surname><given-names>B</given-names></name><name><surname>Wisniewski</surname><given-names>SA</given-names></name><name><surname>Wojcicki</surname><given-names>P</given-names></name><name><surname>Kobus</surname><given-names>K</given-names></name><name><surname>Trzeciak</surname><given-names>WH</given-names></name></person-group><article-title>Novel mutation in the 5′ splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome</article-title><source>American Journal of Medical Genetics Part A</source><year>2003</year><volume>123A</volume><issue>2</issue><fpage>169</fpage><lpage>171</lpage><pub-id pub-id-type="doi">10.1002/ajmg.a.20312</pub-id><pub-id pub-id-type="pmid">14598341</pub-id></element-citation></ref><ref id="CR4"><label>4.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Thompson</surname><given-names>JT</given-names></name><name><surname>Anderson</surname><given-names>PJ</given-names></name><name><surname>David</surname><given-names>DJ</given-names></name></person-group><article-title>Treacher Collins syndrome: Protocol management from birth to maturity</article-title><source>Journal of Craniofacial Surgery</source><year>2009</year><volume>20</volume><fpage>2028</fpage><lpage>2035</lpage><pub-id pub-id-type="doi">10.1097/SCS.0b013e3181be8788</pub-id><pub-id pub-id-type="pmid">19881372</pub-id></element-citation></ref><ref id="CR5"><label>5.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Østerhus</surname><given-names>IN</given-names></name><name><surname>Skogedal</surname><given-names>N</given-names></name><name><surname>Akre</surname><given-names>H</given-names></name><name><surname>Johnsen</surname><given-names>U</given-names></name><name><surname>Nordgarden</surname><given-names>H</given-names></name><name><surname>Åsten</surname><given-names>P</given-names></name></person-group><article-title>Salivary gland pathology as a new finding in Treacher Collins syndrome</article-title><source>American Journal of Medical Genetics Part A</source><year>2012</year><volume>158A</volume><issue>6</issue><fpage>1320</fpage><lpage>1325</lpage><pub-id pub-id-type="doi">10.1002/ajmg.a.35331</pub-id><pub-id pub-id-type="pmid">22585367</pub-id></element-citation></ref><ref id="CR6"><label>6.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Åsten</surname><given-names>P</given-names></name><name><surname>Skogedal</surname><given-names>N</given-names></name><name><surname>Nordgarden</surname><given-names>H</given-names></name><name><surname>Axelsson</surname><given-names>S</given-names></name><name><surname>Akre</surname><given-names>H</given-names></name><name><surname>Sjögreen</surname><given-names>L</given-names></name></person-group><article-title>Orofacial functions and oral health associated with Treacher Collins syndrome</article-title><source>Acta Odontologica Scandinavica</source><year>2013</year><volume>71</volume><issue>3–4</issue><fpage>616</fpage><lpage>625</lpage><pub-id pub-id-type="doi">10.3109/00016357.2012.700065</pub-id><pub-id pub-id-type="pmid">22783882</pub-id></element-citation></ref><ref id="CR7"><label>7.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Akre</surname><given-names>H</given-names></name><name><surname>Øverland</surname><given-names>B</given-names></name><name><surname>Åsten</surname><given-names>P</given-names></name><name><surname>Skogedal</surname><given-names>N</given-names></name><name><surname>Heimdal</surname><given-names>K</given-names></name></person-group><article-title>Obstructive sleep apnea in Treacher Collins syndrome</article-title><source>European Archives of Oto-Rhino-Laryngology</source><year>2012</year><volume>269</volume><issue>1</issue><fpage>331</fpage><lpage>337</lpage><pub-id pub-id-type="doi">10.1007/s00405-011-1649-0</pub-id><pub-id pub-id-type="pmid">21626120</pub-id></element-citation></ref><ref id="CR8"><label>8.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Åsten</surname><given-names>P</given-names></name><name><surname>Akre</surname><given-names>H</given-names></name><name><surname>Persson</surname><given-names>C</given-names></name></person-group><article-title>Associations between speech features and phenotypic severity in Treacher Collins syndrome</article-title><source>BMC Medical Genetics</source><year>2014</year><volume>15</volume><fpage>47</fpage><pub-id pub-id-type="doi">10.1186/1471-2350-15-47</pub-id><pub-id pub-id-type="pmid">24775909</pub-id></element-citation></ref><ref id="CR9"><label>9.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Geirdal</surname><given-names>AØ</given-names></name><name><surname>Øverland</surname><given-names>B</given-names></name><name><surname>Heimdal</surname><given-names>K</given-names></name><name><surname>Storhaug</surname><given-names>K</given-names></name><name><surname>Asten</surname><given-names>P</given-names></name><name><surname>Akre</surname><given-names>H</given-names></name></person-group><article-title>Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome</article-title><source>European Archives of Oto-Rhino-Laryngology</source><year>2013</year><volume>270</volume><issue>11</issue><fpage>2879</fpage><lpage>2884</lpage><pub-id pub-id-type="doi">10.1007/s00405-013-2409-0</pub-id><pub-id pub-id-type="pmid">23455582</pub-id></element-citation></ref><ref id="CR10"><label>10.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Ueki</surname><given-names>Y</given-names></name><name><surname>Tiziani</surname><given-names>V</given-names></name><name><surname>Santanna</surname><given-names>C</given-names></name><name><surname>Fukai</surname><given-names>N</given-names></name><name><surname>Maulik</surname><given-names>C</given-names></name><name><surname>Garfinkle</surname><given-names>J</given-names></name><name><surname>Ninomiya</surname><given-names>C</given-names></name><name><surname>do Amaral</surname><given-names>C</given-names></name><name><surname>Peters</surname><given-names>H</given-names></name><name><surname>Habal</surname><given-names>M</given-names></name><name><surname>Rhee-Morris</surname><given-names>L</given-names></name><name><surname>Doss</surname><given-names>JB</given-names></name><name><surname>Kreiborg</surname><given-names>S</given-names></name><name><surname>Olsen</surname><given-names>BR</given-names></name><name><surname>Reichenberger</surname><given-names>E</given-names></name></person-group><article-title>Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism</article-title><source>Nature Genetics</source><year>2001</year><volume>28</volume><issue>2</issue><fpage>125</fpage><lpage>126</lpage><pub-id pub-id-type="doi">10.1038/88832</pub-id><pub-id pub-id-type="pmid">11381256</pub-id></element-citation></ref><ref id="CR11"><label>11.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>von Wowern</surname><given-names>N</given-names></name><name><surname>Odont</surname><given-names>D</given-names></name></person-group><article-title>Cherubism: A 36-year long-term follow-up of 2 generations in different families and review of the literature</article-title><source>Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology</source><year>2000</year><volume>90</volume><issue>6</issue><fpage>765</fpage><lpage>772</lpage><pub-id pub-id-type="doi">10.1067/moe.2000.108438</pub-id></element-citation></ref><ref id="CR12"><label>12.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Roginsky</surname><given-names>VV</given-names></name><name><surname>Ivanov</surname><given-names>AL</given-names></name><name><surname>Ovtchinnikov</surname><given-names>IA</given-names></name><name><surname>Khonsari</surname><given-names>RH</given-names></name></person-group><article-title>Familial cherubism: the experience of the Moscow Central Institute for Stomatology and Maxillo-Facial Surgery</article-title><source>International Journal of Oral and Maxillofacial Surgery</source><year>2009</year><volume>38</volume><issue>3</issue><fpage>218</fpage><lpage>223</lpage><pub-id pub-id-type="doi">10.1016/j.ijom.2008.10.010</pub-id><pub-id pub-id-type="pmid">19038533</pub-id></element-citation></ref><ref id="CR13"><label>13.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Prescott</surname><given-names>T</given-names></name><name><surname>Redfors</surname><given-names>M</given-names></name><name><surname>Rustad</surname><given-names>CF</given-names></name><name><surname>Eiklid</surname><given-names>KL</given-names></name><name><surname>Geirdal</surname><given-names>AØ</given-names></name><name><surname>Storhaug</surname><given-names>K</given-names></name><name><surname>Jensen</surname><given-names>JL</given-names></name></person-group><article-title>Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life</article-title><source>European Journal of Medical Genetics</source><year>2013</year><volume>56</volume><issue>3</issue><fpage>131</fpage><lpage>137</lpage><pub-id pub-id-type="doi">10.1016/j.ejmg.2012.12.008</pub-id><pub-id pub-id-type="pmid">23298620</pub-id></element-citation></ref><ref id="CR14"><label>14.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Kozakiewicz</surname><given-names>M</given-names></name><name><surname>Perczynska-Partyka</surname><given-names>W</given-names></name><name><surname>Kobos</surname><given-names>J</given-names></name></person-group><article-title>Cherubism—Clinical picture and treatment</article-title><source>Oral Diseases</source><year>2001</year><volume>7</volume><issue>2</issue><fpage>123</fpage><lpage>130</lpage><pub-id pub-id-type="pmid">11355438</pub-id></element-citation></ref><ref id="CR15"><label>15.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Meng</surname><given-names>XM</given-names></name><name><surname>Yu</surname><given-names>SF</given-names></name><name><surname>Yu</surname><given-names>GY</given-names></name></person-group><article-title>Clinicopathologic study of 24 cases of cherubism</article-title><source>International Journal of Oral and Maxillofacial Surgery</source><year>2005</year><volume>34</volume><issue>4</issue><fpage>350</fpage><lpage>356</lpage><pub-id pub-id-type="doi">10.1016/j.ijom.2004.09.006</pub-id><pub-id pub-id-type="pmid">16053841</pub-id></element-citation></ref><ref id="CR16"><label>16.</label><mixed-citation publication-type="other">Papadaki, M. E., Lietman, S. A., Levine, M. A., Olsen, B. R., Kaban, L. B., & Reichenberger, E. J. (2012). Cherubism: Best clinical practice. <italic>Orphanet Journal of Rare Diseases, 7</italic> (Suppl 1):S6.</mixed-citation></ref><ref id="CR17"><label>17.</label><element-citation publication-type="book"><person-group person-group-type="author"><name><surname>Schalk van der Weide</surname><given-names>Y</given-names></name></person-group><source>Oligodontia. A clinical, radiographic and genetic evaluation</source><year>1992</year><publisher-loc>Utrecht</publisher-loc><publisher-name>University of Utrecht</publisher-name></element-citation></ref><ref id="CR18"><label>18.</label><mixed-citation publication-type="other">Bergendal, B. (2014). Orodental manifestations in ectodermal dysplasia—A review. <italic>American Journal of Medical Genetics Part A</italic>. doi:10.1002/ajmg.a.36571.</mixed-citation></ref><ref id="CR19"><label>19.</label><mixed-citation publication-type="other">Salinas, C. F., Irvine, A. D., Itin, P. H., Di Giovanna, J. J., Schneider, H., Clarke, A. J., et al. (2014). Second international conference on a classification of ectodermal dysplasias: Development of a multiaxis model. <italic>American Journal of Medical Genetics Part A</italic>. doi:10.1002/ajmg.a.36507.</mixed-citation></ref><ref id="CR20"><label>20.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Freire-Maya</surname><given-names>N</given-names></name></person-group><article-title>Ectodermal dysplasias</article-title><source>Human Heredity</source><year>1971</year><volume>25</volume><fpage>309</fpage><lpage>312</lpage><pub-id pub-id-type="doi">10.1159/000152419</pub-id></element-citation></ref><ref id="CR21"><label>21.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Bergendal</surname><given-names>B</given-names></name><name><surname>McAllister</surname><given-names>A</given-names></name><name><surname>Stecksén-Blicks</surname><given-names>C</given-names></name></person-group><article-title>Orofacial dysfunction in ectodermal dysplasias measured using the Nordic Orofacial Test-Screening protocol</article-title><source>Acta Odontologica Scandinavica</source><year>2009</year><volume>67</volume><issue>6</issue><fpage>377</fpage><lpage>381</lpage><pub-id pub-id-type="doi">10.1080/00016350903160571</pub-id><pub-id pub-id-type="pmid">19688617</pub-id></element-citation></ref><ref id="CR22"><label>22.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Nordgarden</surname><given-names>H</given-names></name><name><surname>Jensen</surname><given-names>JL</given-names></name><name><surname>Storhaug</surname><given-names>K</given-names></name></person-group><article-title>Oligodontia is associated with extra-oral ectodermal symptoms and low whole salivary flow rates</article-title><source>Oral Diseases</source><year>2001</year><volume>7</volume><issue>4</issue><fpage>226</fpage><lpage>232</lpage><pub-id pub-id-type="pmid">11575873</pub-id></element-citation></ref><ref id="CR23"><label>23.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Bergendal</surname><given-names>B</given-names></name><name><surname>Norderyd</surname><given-names>J</given-names></name><name><surname>Bågesund</surname><given-names>M</given-names></name><name><surname>Holst</surname><given-names>A</given-names></name></person-group><article-title>Signs and symptoms from ectodermal organs in young Swedish individuals with oligodontia</article-title><source>International Journal of Paediatric Dentistry</source><year>2006</year><volume>16</volume><issue>5</issue><fpage>320</fpage><lpage>326</lpage><pub-id pub-id-type="pmid">16879328</pub-id></element-citation></ref><ref id="CR24"><label>24.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Hobson</surname><given-names>RS</given-names></name><name><surname>Carter</surname><given-names>NE</given-names></name><name><surname>Gillgrass</surname><given-names>TJ</given-names></name><name><surname>Jepson</surname><given-names>NJA</given-names></name><name><surname>Meechan</surname><given-names>JG</given-names></name><name><surname>Nohl</surname><given-names>F</given-names></name><name><surname>Nunn</surname><given-names>JH</given-names></name></person-group><article-title>The interdisciplinary management of hypodontia: The relationship between an interdisciplinary team and the general dental practitioner</article-title><source>British Dental Journal</source><year>2003</year><volume>194</volume><fpage>479</fpage><lpage>482</lpage><pub-id pub-id-type="doi">10.1038/sj.bdj.4810184</pub-id><pub-id pub-id-type="pmid">12835777</pub-id></element-citation></ref><ref id="CR25"><label>25.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Arndt</surname><given-names>EM</given-names></name><name><surname>Travis</surname><given-names>F</given-names></name><name><surname>Lefebvre</surname><given-names>A</given-names></name><name><surname>Munro</surname><given-names>IR</given-names></name></person-group><article-title>Psychosocial adjustment of 20 patients with Treacher Collins syndrome before and after reconstructive surgery</article-title><source>British Journal of Plastic Surgery</source><year>1987</year><volume>40</volume><fpage>605</fpage><lpage>609</lpage><pub-id pub-id-type="doi">10.1016/0007-1226(87)90155-X</pub-id><pub-id pub-id-type="pmid">3690093</pub-id></element-citation></ref><ref id="CR26"><label>26.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Pope</surname><given-names>A</given-names></name><name><surname>Ward</surname><given-names>J</given-names></name></person-group><article-title>Self-perceived facial appearance and psychosocial adjustment in preadolescents with craniofacial anomalies</article-title><source>The Cleft Palate-Craniofacial Journal</source><year>1997</year><volume>34</volume><issue>5</issue><fpage>396</fpage><lpage>401</lpage><pub-id pub-id-type="doi">10.1597/1545-1569(1997)034<0396:SPFAAP>2.3.CO;2</pub-id><pub-id pub-id-type="pmid">9345606</pub-id></element-citation></ref><ref id="CR27"><label>27.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Kohli</surname><given-names>R</given-names></name><name><surname>Levy</surname><given-names>S</given-names></name><name><surname>Kummet</surname><given-names>CM</given-names></name><name><surname>Dawson</surname><given-names>DV</given-names></name><name><surname>Stanford</surname><given-names>CM</given-names></name></person-group><article-title>Comparison of perceptions of oral health-related quality of life in adolescents affected with ectodermal dysplasias relative to caregivers</article-title><source>Special Care in Dentistry</source><year>2011</year><volume>31</volume><issue>3</issue><fpage>88</fpage><lpage>94</lpage><pub-id pub-id-type="doi">10.1111/j.1754-4505.2011.00189.x</pub-id><pub-id pub-id-type="pmid">21592162</pub-id></element-citation></ref><ref id="CR28"><label>28.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Pavlis</surname><given-names>MB</given-names></name><name><surname>Rice</surname><given-names>ZP</given-names></name><name><surname>Veledar</surname><given-names>E</given-names></name><name><surname>Bradley</surname><given-names>BR</given-names></name><name><surname>Spraker</surname><given-names>MK</given-names></name><name><surname>Chen</surname><given-names>SC</given-names></name></person-group><article-title>Quality of life of cutaneous disease in the ectodermal dysplasias</article-title><source>Pediatric Dermatology</source><year>2010</year><volume>27</volume><issue>3</issue><fpage>260</fpage><lpage>265</lpage><pub-id pub-id-type="doi">10.1111/j.1525-1470.2010.01121.x</pub-id><pub-id pub-id-type="pmid">20609143</pub-id></element-citation></ref><ref id="CR29"><label>29.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Kotecha</surname><given-names>S</given-names></name><name><surname>Turner</surname><given-names>PJ</given-names></name><name><surname>Dietrich</surname><given-names>T</given-names></name><name><surname>Dhopatkar</surname><given-names>A</given-names></name></person-group><article-title>The impact of tooth agenesis on oral health-related quality of life in children</article-title><source>Journal of Orthodontics</source><year>2013</year><volume>40</volume><issue>2</issue><fpage>122</fpage><lpage>129</lpage><pub-id pub-id-type="doi">10.1179/1465313312Y.0000000035</pub-id><pub-id pub-id-type="pmid">23794692</pub-id></element-citation></ref><ref id="CR30"><label>30.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Arnold</surname><given-names>P</given-names></name><name><surname>Chapman</surname><given-names>M</given-names></name></person-group><article-title>Self-esteem, aspirations and expectations of adolescents with physical disability</article-title><source>Development Medicine & Child Neurology</source><year>1992</year><volume>34</volume><issue>2</issue><fpage>97</fpage><lpage>102</lpage><pub-id pub-id-type="doi">10.1111/j.1469-8749.1992.tb14975.x</pub-id></element-citation></ref><ref id="CR31"><label>31.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Diener</surname><given-names>E</given-names></name><name><surname>Wolsic</surname><given-names>B</given-names></name><name><surname>Fujita</surname><given-names>F</given-names></name></person-group><article-title>Physical attractiveness and subjective wellbeing</article-title><source>Journal of Personality and Social Psychology</source><year>1995</year><volume>69</volume><fpage>120</fpage><lpage>129</lpage><pub-id pub-id-type="doi">10.1037/0022-3514.69.1.120</pub-id></element-citation></ref><ref id="CR32"><label>32.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Atkin</surname><given-names>K</given-names></name><name><surname>Ahmad</surname><given-names>W</given-names></name></person-group><article-title>Living a ‘normal’ life: Young people coping with thalassaemia major or sickle cell disorder</article-title><source>Social Science and Medicine</source><year>2001</year><volume>53</volume><issue>5</issue><fpage>615</fpage><lpage>626</lpage><pub-id pub-id-type="doi">10.1016/S0277-9536(00)00364-6</pub-id><pub-id pub-id-type="pmid">11478541</pub-id></element-citation></ref><ref id="CR33"><label>33.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Broder</surname><given-names>H</given-names></name></person-group><article-title>Using psychological assessment and therapeutic strategies to enhance well-being</article-title><source>The Cleft Palate-Craniofacial Journal</source><year>2001</year><volume>38</volume><issue>3</issue><fpage>248</fpage><lpage>254</lpage><pub-id pub-id-type="doi">10.1597/1545-1569(2001)038<0248:UPAATS>2.0.CO;2</pub-id><pub-id pub-id-type="pmid">11386433</pub-id></element-citation></ref><ref id="CR34"><label>34.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Hobkirk</surname><given-names>JA</given-names></name><name><surname>Brook</surname><given-names>AH</given-names></name></person-group><article-title>The management of patients with severe hypodontia</article-title><source>Journal of Oral Rehabilitation</source><year>1980</year><volume>7</volume><issue>4</issue><fpage>289</fpage><lpage>298</lpage><pub-id pub-id-type="doi">10.1111/j.1365-2842.1980.tb00447.x</pub-id><pub-id pub-id-type="pmid">6997447</pub-id></element-citation></ref><ref id="CR35"><label>35.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Bjelland</surname><given-names>I</given-names></name><name><surname>Dahl</surname><given-names>AA</given-names></name><name><surname>Haug</surname><given-names>TT</given-names></name><name><surname>Neckelmann</surname><given-names>D</given-names></name></person-group><article-title>The validity of the Hospital Anxiety and Depression Scale. An updated literature review</article-title><source>Journal of Psychosomatic Research</source><year>2002</year><volume>52</volume><issue>2</issue><fpage>69</fpage><lpage>77</lpage><pub-id pub-id-type="doi">10.1016/S0022-3999(01)00296-3</pub-id><pub-id pub-id-type="pmid">11832252</pub-id></element-citation></ref><ref id="CR36"><label>36.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Zigmond</surname><given-names>AS</given-names></name><name><surname>Snaith</surname><given-names>RP</given-names></name></person-group><article-title>The hospital anxiety and depression scale</article-title><source>Acta Psychiatrica Scandinavica</source><year>1983</year><volume>67</volume><issue>6</issue><fpage>361</fpage><lpage>370</lpage><pub-id pub-id-type="doi">10.1111/j.1600-0447.1983.tb09716.x</pub-id><pub-id pub-id-type="pmid">6880820</pub-id></element-citation></ref><ref id="CR37"><label>37.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Olsson</surname><given-names>I</given-names></name><name><surname>Mykletun</surname><given-names>A</given-names></name><name><surname>Dahl</surname><given-names>AA</given-names></name></person-group><article-title>The Hospital Anxiety and Depression Rating Scale: A cross-sectional study of psychometrics and case finding abilities in general practice</article-title><source>BMC Psychiatry</source><year>2005</year><volume>5</volume><fpage>46</fpage><pub-id pub-id-type="doi">10.1186/1471-244X-5-46</pub-id><pub-id pub-id-type="pmid">16351733</pub-id></element-citation></ref><ref id="CR38"><label>38.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Mykletun</surname><given-names>A</given-names></name><name><surname>Stordal</surname><given-names>E</given-names></name><name><surname>Dahl</surname><given-names>AA</given-names></name></person-group><article-title>Hospital Anxiety and Depression (HAD) scale: Factor structure, item analyses and internal consistency in a large population</article-title><source>British Journal of Psychiatry</source><year>2001</year><volume>179</volume><fpage>540</fpage><lpage>544</lpage><pub-id pub-id-type="doi">10.1192/bjp.179.6.540</pub-id><pub-id pub-id-type="pmid">11731359</pub-id></element-citation></ref><ref id="CR39"><label>39.</label><element-citation publication-type="book"><person-group person-group-type="author"><name><surname>Cantril</surname><given-names>H</given-names></name></person-group><source>The pattern of human concerns</source><year>1965</year><publisher-loc>New Brunswick, New Jersey</publisher-loc><publisher-name>Rutgers University Press</publisher-name></element-citation></ref><ref id="CR40"><label>40.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Kaasa</surname><given-names>S</given-names></name><name><surname>Mastekaasa</surname><given-names>A</given-names></name><name><surname>Naess</surname><given-names>S</given-names></name></person-group><article-title>Quality of life of lung cancer patients in a randomized clinical trial evaluated by a psychosocial well-being questionnaire</article-title><source>Acta Oncologica</source><year>1988</year><volume>27</volume><issue>4</issue><fpage>335</fpage><pub-id pub-id-type="doi">10.3109/02841868809093551</pub-id><pub-id pub-id-type="pmid">2849460</pub-id></element-citation></ref><ref id="CR41"><label>41.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Ware</surname><given-names>JE</given-names><suffix>Jr</suffix></name><name><surname>Gandek</surname><given-names>B</given-names></name><name><surname>Kosinski</surname><given-names>M</given-names></name><name><surname>Aaronson</surname><given-names>NK</given-names></name><name><surname>Apolone</surname><given-names>G</given-names></name><name><surname>Brazier</surname><given-names>J</given-names></name><name><surname>Bullinger</surname><given-names>M</given-names></name><name><surname>Kaasa</surname><given-names>S</given-names></name><name><surname>Leplege</surname><given-names>A</given-names></name><name><surname>Prieto</surname><given-names>L</given-names></name><name><surname>Sullivan</surname><given-names>M</given-names></name><name><surname>Thunedborg</surname><given-names>K</given-names></name></person-group><article-title>The equivalence of SF-36 summary health scores estimated using standard and country-specific algorithms in 10 countries: Results from the IQOLA Project. International Quality of Life Assessment</article-title><source>Journal of Clinical Epidemiology</source><year>1998</year><volume>51</volume><issue>11</issue><fpage>1167</fpage><lpage>1170</lpage><pub-id pub-id-type="doi">10.1016/S0895-4356(98)00108-5</pub-id><pub-id pub-id-type="pmid">9817134</pub-id></element-citation></ref><ref id="CR42"><label>42.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Ware</surname><given-names>J</given-names><suffix>Jr</suffix></name><name><surname>Kosinski</surname><given-names>M</given-names></name><name><surname>Keller</surname><given-names>SD</given-names></name></person-group><article-title>A 12-Item Short-Form Health Survey: Construction of scales and preliminary tests of reliability and validity</article-title><source>Medical Care</source><year>1996</year><volume>34</volume><issue>3</issue><fpage>220</fpage><lpage>233</lpage><pub-id pub-id-type="doi">10.1097/00005650-199603000-00003</pub-id><pub-id pub-id-type="pmid">8628042</pub-id></element-citation></ref><ref id="CR43"><label>43.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Loge</surname><given-names>JH</given-names></name><name><surname>Kaasa</surname><given-names>S</given-names></name><name><surname>Hjermstad</surname><given-names>MJ</given-names></name><name><surname>Kvien</surname><given-names>TK</given-names></name></person-group><article-title>Translation and performance of the Norwegian SF-36 Health Survey in patients with rheumatoid arthritis. I. Data quality, scaling assumptions, reliability, and construct validity</article-title><source>Journal of Clinical Epidemiology</source><year>1998</year><volume>51</volume><issue>11</issue><fpage>1069</fpage><lpage>1076</lpage><pub-id pub-id-type="doi">10.1016/S0895-4356(98)00098-5</pub-id><pub-id pub-id-type="pmid">9817124</pub-id></element-citation></ref><ref id="CR44"><label>44.</label><element-citation publication-type="book"><person-group person-group-type="author"><name><surname>Hatfield</surname><given-names>E</given-names></name><name><surname>Sprecher</surname><given-names>S</given-names></name></person-group><source>Mirror, mirror: The importance of looks in everyday life</source><year>1985</year><publisher-loc>Albany (NY)</publisher-loc><publisher-name>State University of New York Press</publisher-name><fpage>199</fpage><lpage>231</lpage></element-citation></ref><ref id="CR45"><label>45.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Haas</surname><given-names>BK</given-names></name></person-group><article-title>A multidisciplinary concept analysis of quality of life</article-title><source>Western Journal of Nursing Research</source><year>1999</year><volume>21</volume><issue>6</issue><fpage>728</fpage><lpage>742</lpage><pub-id pub-id-type="doi">10.1177/01939459922044153</pub-id><pub-id pub-id-type="pmid">11512210</pub-id></element-citation></ref><ref id="CR46"><label>46.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Akram</surname><given-names>AJ</given-names></name><name><surname>Jerreat</surname><given-names>AS</given-names></name><name><surname>Woodford</surname><given-names>J</given-names></name><name><surname>Sandy</surname><given-names>JR</given-names></name><name><surname>Ireland</surname><given-names>AJ</given-names></name></person-group><article-title>Development of a condition-specific measure to assess quality of life in patients with hypodontia</article-title><source>Orthodontics and Craniofacial Research</source><year>2011</year><volume>14</volume><issue>3</issue><fpage>160</fpage><lpage>167</lpage><pub-id pub-id-type="doi">10.1111/j.1601-6343.2011.01517.x</pub-id><pub-id pub-id-type="pmid">21771271</pub-id></element-citation></ref><ref id="CR47"><label>47.</label><mixed-citation publication-type="other">Meaney, S., Anweigi, L., Ziada, H., & Allen, F. (2011). The impact of hypodontia: A qualitative study on the experiences of patients. <italic>The European Journal of Orthodontics</italic>. doi:10.1093/ejo/cjr061.</mixed-citation></ref><ref id="CR48"><label>48.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Mehta</surname><given-names>U</given-names></name><name><surname>Brunworth</surname><given-names>J</given-names></name><name><surname>Fete</surname><given-names>TJ</given-names></name><name><surname>Sindwani</surname><given-names>R</given-names></name></person-group><article-title>Head and neck manifestations and quality of life of patients with ectodermal dysplasia</article-title><source>Otolaryngology—Head and Neck Surgery</source><year>2007</year><volume>136</volume><issue>5</issue><fpage>843</fpage><lpage>847</lpage><pub-id pub-id-type="doi">10.1016/j.otohns.2006.11.038</pub-id><pub-id pub-id-type="pmid">17478227</pub-id></element-citation></ref><ref id="CR49"><label>49.</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Anweigi</surname><given-names>L</given-names></name><name><surname>Allen</surname><given-names>PF</given-names></name><name><surname>Ziada</surname><given-names>H</given-names></name></person-group><article-title>The use of the Oral Health Impact Profile to measure the impact of mild, moderate and severe hypodontia on oral health-related quality of life in young adults</article-title><source>Journal of Oral Rehabilitation</source><year>2013</year><volume>40</volume><issue>8</issue><fpage>603</fpage><lpage>608</lpage><pub-id pub-id-type="doi">10.1111/joor.12062</pub-id><pub-id pub-id-type="pmid">23691921</pub-id></element-citation></ref></ref-list></back></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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