Presentasjon om: "FOU-dag UNN TAKO-senteret og forskning"— Utskrift av presentasjonen:
1FOU-dag UNN 23.05 2008 TAKO-senteret og forskning Kari Storhaug, dr. odont.AvdelingssjefTAKO-senteretLovisenberg Diakonale sykehus
2Internasjonale nettverk Eurordis: European organization for rare disordersIADH, International Association for Disability and oral HealthNORD, National Organization for Rare Disorders, USAED-networkEB-network
4Hilde Nordgarden Thesis 2004 On Oligodontia, Ectodermal Dysplasias and Salivary Gland Development and FunctionHilde NordgardenThesis2004My interest in medical conditions and salivary gland function dates back to the mid nineties, when I, as a dental student, became involved in a project regarding saliva in narcolepsy. During my work as a student research fellow I learnt much about salivary gland function and analyses of salivary secretions, and I became aware of the lack of research within the field. There are several diagnoses in which we, and others, have noticed a possible salivary gland dysfunction, but very little research has been done. I had several options when planning a project for a doctoral degree. I chose to concentrate on developmental disturbances of the ectodermal tissues and the result of my research so far is presented in the thesis “On oligodontia, Ectodermal Dysplasias and Salivary Gland Development and Function.So, why did I choose this topic? Before I answer that question I would like to define some terms.
5OligodontiMedfødt mangel av seks eller flere tenner, tredje molar ekskludertPrevalensen av oligodonti I befolkningen var ikke kjentThe term oligodontia has been used to describe the congenital absence of several teeth. In this thesis the following definition is used: “Congenital absence of six or more teeth, third molars excluded”.
6Ektodermal dysplasier Utviklingsforstyrrelser i to eller flere av følgende vev:HårTennerNeglerSvettekjertlerFreire-Maya and Pinheiro, 1984Ectodermal dysplasias, or EDs for short, comprise a large and heterogeneous group of conditions, involving tissues derived from one of three embryonic germ layers, the ectoderm. The classical definition of ectodermal dysplasias is given by the Brazilian geneticists Freire-Maya and Pinheiro, and states that at least two of the following ectodermal tissues must be affected for an proper ED diagnosis to be made: Hair, teeth, nails and sweat glands.
8Ektodermale dysplasier Tenner affisert hos 80%Oligodonti, en mikroform for ektodermal dysplasi?Mange udiagnostiserte tilfeller?As teeth are affected so often in EDs, dental health care personnel often meet these patients. The dental disturbances are in many cases their main problem, and extensive and lifelong treatment and maintenance are necessary. It has been claimed that oligodontia per see might represent a microform of ectodermal dysplasia. Furthermore, the experience at the TAKO-centre was that many patients with oligodontia presented signs and symptoms in extra-oral ectodermal tissues, but still had not been diagnosed with ectodermal dysplasias. We therefore hypothesised that there were many undiagnosed cases of EDs in Norway. Also, when searching databases we did not find studies regarding the prevalence of oligodontia in the population
9Ektodermale dysplasier SpyttkjertlerRedusert spyttsekresjonTørre munnslimhinnerSoppinfeksjonerIn addition to the classical tissues generally regarded as the diagnostic ectodermal dysplasia tissues, the salivary glands also have ectodermal origin. Reduced salivary secretion and dry oral mucosa and as a result of this, fungal infections, had been mentioned in the literature, and the clinical impression within our group was that this was a problem in these patient groups.
10KonklusjonerAssosiasjon mellom oligodonti og ekstraorale tegn og symptomer på ektodermal dysplasiSpyttkjertel dysfunksjon er et hyppig funn ved disse tilstandene – Oral ektodermal dysplasiBased on the performed studies we have made some main conclusions.Firstly, we conclude that there is an association between oligodontia and extra-oral signs and symptoms of ectodermal dysplasias.Secondly, we conclude that salivary gland dysfunction is a frequent finding in persons with oligodontia in combination with other symptoms from classical ectodermal dysplasia tissues. Our term Oral ectodermal dysplasia could be used on persons with oligodontia in combination with reduced salivary secretions. Reduced salivary secretion is often a serious problem for the person affected. Also oligodontia is a serious and demanding condition to treat. As oral ectodermal dysplasia could be present isolated, without extra-oral symptoms, we propose that this entity is included in the ectodermal dysplasia group. This would have practical implications for affected patients, providing a basis for adequate oral prophylaxis and treatment, and for Norwegian patients, a passport to having dental treatment costs fully covered by the Norwegian National Insurance Scheme.
11KonklusjonerUtviklingsforstyrrelser av spyttkjertler ved ektodermal dysplasiEnkle spyttsekresjonstester bør gjøres hos personer med oligodonti / ektodermalThe evidence of a impaired salivary gland development in x-linked hypohidrotic ectodermal dysplasia is growing stronger, both through the work presented here and through work by others. However, based on the nature of the ectodermal dysplasias we find it likely that impaired salivary gland development is the cause for the observed salivary dysfunction also in other forms of ectodermal dysplasias.We therefore advocate that simple salivary tests always should be performed in persons with oligodontia with or without extra-oral signs of the condition.
12Variability of the cranial and dental phenotype in Williams syndrome Stefan AxelssonThesis2005
13Avvik i tennene ved WS Manglende permanente tenner Små tenner Avvikende tannformMellomrom mellom tenneneMineraliserings-defekter i tannemaljenTann- og bittavvik
14Delarbeide 6 Axelsson S, Bjørnland T, Kjær I, Heiberg A, Storhaug K Delarbeide 6 Axelsson S, Bjørnland T, Kjær I, Heiberg A, Storhaug K. Dental characteristics in Williams syndrome: a clinical and radiographic evaluation. Acta Odontol Scand 2003; 61:
1540 % mangler én eller flere tenner 12 % mangler mer enn 6 tenner
16KonklusjonerStørrelse og form på nevrokraniet avviker fra et normalmaterialeSella turcica viser stor variasjon i form og størrelse3 områder i ansiktsskjelettet bidrar til det karakterisktiske utseende hos WSCa. 40 % mangler én eller flere permanente tennerCa. 12 % mangler MANGE permanente tennerSmå permanente tennerKarakteristisk tannform på permanente fortenner
21Kronisk mukokutan kandidiasis Vanligste ikke-endokrinologiske manifestasjon ved APS 1 (100%)Lesjoner fra angulær cheilitt til hypertrofiske eller atrofiske slimhinnelesjoner i munnhulenCandida infeksjon i negler er også vanlig
25Voksne med Osteogenesis imperfecta-OI og oral helse Del av en større studie, en populasjonsbeskrivelse av voksne med OI i NorgeStudien ledes av dr. Lena L. Wekre på TRS/Sunnås sykehusSamarbeid med Aker sykehus – hjerteundersøkelse v/dr. Zoran R.
26Orale symptomer ved OI Dentinogenesis imperfecta Malokklusjon MisfargingFrakturerAttrisjonKorte/atypiske røtterKlokkeformete kronerObliterasjonerApikale oppklaringerMalokklusjon
44Problemstillinger Er kvantitet og/eller kvalitet av saliva avvikende? Hvorfor slites tennene ned og hvor raskt?Hvor utbredt er karies?Forekomst av dentale utviklingsforstyrrelserHvor vanlig er avvikende ganeform og malokklusjon ?
45Målsetning Skaffe kunnskap omkring orale forhold ved PWS Kunnskap om salivas funksjon og spyttkjertlenes utvikling vil kunne klargjøre forhold omkring salivas rolle for tannslitasje og kariesutvikling generelt
47Nasjonalt samarbeid ØNH – Lovisenberg Diakonale Sykehus Det odontologiske fakultetFrambuPWS-foreningen
48Dental and orofacial characteristics and functions in Treacher Collins syndrome
49Dental and orofacial characteristics Use the parameters inThe MHC Orofacialobservation chart(Revised 2008)From Mun-H-centre,GothenburgDownload: mun-h-center.seSide 1 of 2
50Collected data in the MHC- Database Mun-H-Centre, Gothenburg, SwedenA national database for documentation of orofacial manifestations in rare disordersEstablished in 1996In January 2006, 1966 individuals were registered in the databaseRepresent over 200 different rare disorders45 different diagnoses presented on
52NOT-S in current studies Ectodermal dysplasia55 persons in USA and SwedenBirgitta Bergendal, Spec. in Prosthetic Dentistry and Anita McAllister, Dr. med., SLPPrader Willi syndrome30 children and adolescentsTAKO-centre, Rønnaug Sæves, Spec. in Paeditric DentistryMuscular dystrophiasMun-H-centre, Lotta Sjögreen, SLPPrematurely born childrenIn schoolageOulu university, Anneli Yliherva, SLP
53Reference Bakke M, Bergendal B, McAllister A, Sjögreen L, Åsten P. Development and evaluation of a comprehensive screening for orofacial dysfunction.Swedish Dental Journal 2007;31:75-84.Download:
54Treacher Collins syndrome Orofacial characteristics and functions Project outlineSpeech and language pathologist Pamela ÅstenSpec. in paediatric dentistry Nina SkogedalTAKO-centre, OsloSupervisors:Kari Storhaug, PhD, TAKO-centreAnita McAllister, PhD, University of LinköpingLotta Sjøgreen, SLP, Mun-H-Center
55Population Persons with TCS in Norway Recruited via TAKO-centre Dept. for medical genetics, RikshospitaletCraniofacial team, RikshospitaletSSD (centre for rare disorders), RikshospitaletNorwegian Craniofacial parent organisation
56Population TAKO-centre 23 registered patients 3 families 13 female and 10 maleBorn from 1931 to 2003From different parts of Norway4 known relatives
57Study parameters Assessment by clinical geneticist Intraoral relations Salivary glands and saliva secretionOrofacial functionsConditions in nose and pharynxRespiration and sleepHearingVisionQuality of life and functional outcome
58Assessment by clinical geneticist Ketil Heimdal, Dept. of medical genetics, RikshospitaletInterviewAssessment of clinical featuresMedical severity score
59Intraoral relations Review of former dental interventions Nina Skogedal, TAKO-centre, LDSReview of former dental interventionsOral health habitsTeethMineralisationAgenesisOcclusionOral healthCariesPeriodontal statusReview of present dental arrangements
60Salivary secretion Measuring of salivary secretion Nina Skogedal. TAKO-senteret, LDSMeasuring of salivarysecretion
61Salivary glands Dept. of ENT, LDS Ultrasound examination of salivary glandsHypoplasia, agenesia?
62Conditions in nose and pharynx Dept. of ENT, LDSCleftsNasal passage ( choanalatresia)Velopharyngeal conditions
63Orofacial functions Oral motor function Eating and drinking Pamela Åsten, TAKO-centre, LDSOral motor functionThe MHC Orofacial observation chartThe MHC QuestionnaireNOT-SEating and drinkingStructured observationSpeech, resonance and voiceSvensk Artikulations och Nasalitets Test (SVANTE)Estimated time: 3 hours
64Respiration and sleep Review of former and current Dept. of ENT, LDSReview of former and currentmeasures concerning respirationSleep apnea registration
65HearingDept. of ENT, LDS(Ullevål University Hospital)Audiogram
66Quality of life Living with family Network and friends Amy Østertun Geirdal, Høgskolen i OsloLiving with familyNetwork and friendsSocial insurance system etc.Earlier special educational programsSchool and educationProfessional life
67Project period: May 2008 – June 2009 May – July 2008Application to ethical committeeDiscussions with co-workersRecruitment of participantsAugust – September 2008Written information for children and adultsDevelopment of full protocolOctober 2008 – January 2009Collecting dataFebruary – June 2009Data assessmentScientific article