umu.sePublications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Oligodontia and ectodermal dysplasia: on signs, symptoms, genetics and outcomes of dental treatment
Umeå University, Faculty of Medicine, Odontology.
2010 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

The general aim of this thesis was to broaden our knowledge of the signs and symptoms, genetics, and outcomes of dental implant treatment in individuals with oligodontia or ectodermal dysplasia.

Article I is a population-based study in three Swedish counties of 162 individuals with oligodontia, which was a prevalence of 0.09%. The intent was to explore ways for dentists to assess symptoms from other ectodermal structures than teeth through a clinical interview and chair-side analyses. Thirty per cent had low salivary secretion rates while only 11% with no known syndrome reported symptoms from hair, nails, or sweat glands. These are, together with teeth, the ectodermal structures on which it is proposed that a clinical diagnosis of ectodermal dysplasia (ED) be based.

Article II screened 93 probands with oligodontia for mutations in six genes known to cause oligodontia and hypohidrotic ED. Sequence alterations predicted to be damaging or potentially damaging were revealed in the AXIN2, MSX1, PAX9, and EDARADD genes in 14 (15%) of the probands. All mutations but one were novel. For the first time, EDARADD mutations were shown to cause isolated oligodontia. No individual who had reported ectodermal symptoms from hair, nails, or sweat glands had a mutation.

Article III assessed orofacial function in individuals with different types of EDs using the Nordic Orofacial Test-Screening (NOT-S) protocol. Individuals with ED scored significantly higher in orofacial dysfunction than a healthy reference sample, especially in the Chewing and swallowing, Dryness of the mouth, and Speech domains.

Article IV surveyed treatment outcome of dental implants in Swedish children up to age 16 years. In a 20-year period, only 26 patients were treated, 5 of whom had hypohidrotic ED and anodontia of the mandible. Individuals with ED had 64% failed implants compared to 6% among subjects with teeth missing due to trauma or agenesis.

The main conclusions of this thesis were that (i) a check of whether one or more permanent incisors are missing will identify 65% of individuals with oligodontia and 84% of individuals missing nine teeth or more, (ii) evaluation of salivary secretion is indicated in children with oligodontia, (iii) a majority of individuals with oligodontia did not report other abnormal ectodermal organ function besides teeth, (iv) no clinical indicator discriminated between individuals with and without mutations in the tested genes, and more unidentified genes are involved in tooth morphogenesis, (v) EDARADD mutations are associated with isolated oligodontia, (vi) evaluation of orofacial function is indicated in individuals with ED, and many individuals with ED would benefit from orofacial skills training, (vii) dental implant placement is a rare treatment modality in children, (viii) individuals with hypohidrotic ED seem to present special challenges due to structural as well as direct effects of the mutations on bone, which seem to compromise osseointegration, (ix) central registers on signs and symptoms in individuals with rare disorders would help establish prevalences of various diagnoses and define treatment needs, and (x) quality registers for monitoring treatment outcomes of dental implants would promote early detection of risks and side-effects in individuals with rare disorders.

Place, publisher, year, edition, pages
Umeå: Umeå universitet , 2010. , 78 p.
Series
Umeå University odontological dissertations, ISSN 0345-7532 ; 110
Series
Swedish Dental Journal Supplement, ISSN 0348-6672 ; 205
Keyword [en]
Tooth agenesis, oligodontia, ectodermal dysplasia, orofacial function, dental implants, EDARADD
National Category
Dentistry
Research subject
Odontology
Identifiers
URN: urn:nbn:se:umu:diva-31798ISBN: 978-91-7264-941-5 (print)OAI: oai:DiVA.org:umu-31798DiVA: diva2:299000
Public defence
2010-03-17, Sal B, Tandläkarhögskolan, Norrlands Universitetssjukhus, Byggnad 1D, Umeå, 09:00 (English)
Opponent
Supervisors
Available from: 2010-02-24 Created: 2010-02-17 Last updated: 2010-03-04Bibliographically approved
List of papers
1. Signs and symptoms from ectodermal organs in young Swedish individuals with oligodontia
Open this publication in new window or tab >>Signs and symptoms from ectodermal organs in young Swedish individuals with oligodontia
2006 (English)In: International Journal of Paediatric Dentistry, ISSN 0960-7439, E-ISSN 1365-263X, Vol. 16, no 5, 320-326 p.Article in journal (Refereed) Published
Place, publisher, year, edition, pages
Chichester, West Sussex, UK: Blackwell Publishing Ltd, 2006
Keyword
children, oligodontia, saliva, ectodermal signs and symptoms
National Category
Dentistry
Research subject
Epidemiology
Identifiers
urn:nbn:se:umu:diva-31801 (URN)10.1111/j.1365-263X.2006.00741.x (DOI)
Available from: 2010-02-17 Created: 2010-02-17 Last updated: 2017-12-12Bibliographically approved
2. Isolated oligodontia associated with mutations in AXIN2, MSX1, PAX9, and EDARADD
Open this publication in new window or tab >>Isolated oligodontia associated with mutations in AXIN2, MSX1, PAX9, and EDARADD
Show others...
(English)Manuscript (preprint) (Other academic)
Keyword
oligodontia, ectodermal dysplasia, genetics, EDARADD
National Category
Dentistry
Research subject
Molecular Medicine
Identifiers
urn:nbn:se:umu:diva-31813 (URN)
Available from: 2010-02-17 Created: 2010-02-17 Last updated: 2010-03-02Bibliographically approved
3. Orofacial dysfunction in ectodermal dysplasias measured using the Nordic Orofacial Test-Screening protocol
Open this publication in new window or tab >>Orofacial dysfunction in ectodermal dysplasias measured using the Nordic Orofacial Test-Screening protocol
2009 (English)In: Acta Odontologica Scandinavica, ISSN 0001-6357, E-ISSN 1502-3850, ISSN 1502-3850, Vol. 67, 377-381 p.Article in journal (Refereed) Published
Place, publisher, year, edition, pages
London, UK: Informa Health Care, 2009
Keyword
NOT-S, orofacial function, rare disorders, syndromes
National Category
Dentistry
Research subject
Odontology
Identifiers
urn:nbn:se:umu:diva-25896 (URN)10.1080/00016350903160571 (DOI)19688617 (PubMedID)
Available from: 2009-09-10 Created: 2009-09-10 Last updated: 2017-12-13Bibliographically approved
4. Implant failure in young children with ectodermal dysplasia: a retrospective evaluation of use and outcome of dental implant treatment in children in Sweden
Open this publication in new window or tab >>Implant failure in young children with ectodermal dysplasia: a retrospective evaluation of use and outcome of dental implant treatment in children in Sweden
2008 (English)In: International Journal of Oral & Maxillofacial Implants, ISSN 0882-2786, E-ISSN 1942-4434, Vol. 23, no 3, 520-524 p.Article in journal (Refereed) Published
Abstract [en]

Purpose: This study surveyed dental implant treatment in children up to age 16 years in Sweden between 1985 and 2005, with special reference to young children with ectodermal dysplasia (ED) and anodontia in the lower jaw.

Materials and Methods: A questionnaire was sent to Swedish specialist clinics in oral and maxillofacial surgery and prosthetic dentistry. Also, the teams who had treated children with ED were asked to submit their records for these children for a discussion on reasons for implant failure.

Results: Six out of 30 specialist centers (20%) in Sweden had treated 26 children with dental implants between 1985 and 2005. Twenty-one patients had received 33 implants to replace teeth missing from nonsyndromic agenesis or trauma at ages 14 or 15 years; 2 (6.1%) of these implants were lost. Five children with ED received 14 implants at 5 to 12 years of age; 9 (64.3%) of these implants were lost before loading.

Conclusions: Dental implant placement has been a rarely used treatment modality in Swedish children less than 16 years old in the last 20 years. The failure rate in children treated because of tooth agenesis was only slightly higher than that reported for adult individuals, whereas in young children with ED and anodontia in the mandible, implants seemed to present special challenges, and the failure rate was very high. The small jaw size and peroperative conditions, rather than ED per se, were thought to be the main risk factors. Centralizing implant operations in young children with ED and monitoring outcomes in implant registers are strongly advocated. Int J Oral Maxillofacial Implants 2008;23:520–524

Place, publisher, year, edition, pages
Lombard, Illinois, USA: Quintessence Publishing Co, Inc, 2008
Keyword
children, ectodermal dysplasia, dental implants
National Category
Dentistry
Research subject
Odontology
Identifiers
urn:nbn:se:umu:diva-30662 (URN)18700377 (PubMedID)
Available from: 2010-01-12 Created: 2010-01-12 Last updated: 2017-12-12Bibliographically approved

Open Access in DiVA

fulltext(628 kB)4061 downloads
File information
File name FULLTEXT02.pdfFile size 628 kBChecksum SHA-512
a4a23a99878fa0e09c7a40824cb80dc26ed585daa63fd7e835c066c8d201ce57bbf0134e16fc27ebb91f8b8e27eace2ad3a8194673d52d5848dec97af2c45ea7
Type fulltextMimetype application/pdf

Search in DiVA

By author/editor
Bergendal, Birgitta
By organisation
Odontology
Dentistry

Search outside of DiVA

GoogleGoogle Scholar
Total: 4063 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

isbn
urn-nbn

Altmetric score

isbn
urn-nbn
Total: 3657 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf