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.

Andning, sväljning, tuggning, mimik och artikulation är delar av orofacial funktion (Bakke, Bergendal, McAllister, Sjogreen, & Asten, 2007). Oralmotoriken är viktig för talproduktion och födointag (Lundeborg Hammarström, 2010). Nordiskt Orofacialt Test- Screening (NOT-S) är ett screeningtest som används för att bedöma avvikande orofacial funktion (Bakke et al., 2007). Syftet med studien är att undersöka hur barn med typisk utveckling mellan 6:0- 8:0 år presterar på NOT-S, samt om det föreligger någon ålder- eller könsskillnad i utförandet av uppgifterna. I studien deltog 80 barn och deras föräldrar. Barnen var uppdelade i två åldersgrupper, varav 30 stycken sexåringar och 50 stycken sjuåringar. Testningen genomfördes i skolmiljö och föräldraintervjuer gjordes via telefon. Resultatet visade att barn i åldrarna 6:0- 8:0 år fick en totalpoäng på 1,44 ± 1,16 på NOT-S. Sexåringarna i studien fick en totalpoäng på 1,63 ± 1,16 och sjuåringarna fick en totalpoäng på 1,32 ± 1,15. Det fanns inga signifikanta ålders- eller könskillnader förutom på intervjudelen där en könskillnad mellan sjuåringar uppmättes. De sjuåriga pojkarna hade mer orofaciala problem än flickorna på intervjudelen. Resultaten kan användas som normvärden vid klinisk användning av NOT-S på studerade åldersgrupper. / Breathing, swallowing, chewing, facial expressions and articulation are aspects of orofacial function (Bakke, Bergendal, McAllister, Sjogreen, & Asten, 2007). Oral motor function is important for speech production as well as eating (Lundeborg Hammarström, 2010). The Nordic Orofacial Test –Screening (NOT-S) is a screening instrument for orofacial dysfunction (Bakke et al., 2007). The purpose of this study was to collect data about how typically developed children aged 6:0-8:0 years perform on NOT-S, and also to examine if there were any age or gender differences in the results. A total of 80 children and their caretakers participated in the study. There were 30 children aged six and 50 aged seven. The children were tested in their schools and their parents were interviewed by telephone. The results showed that children aged 6:0- 8:0 years had a mean score of 1,44 ± 1,16 on NOT-S. For children at age six the mean score was 1,63 ± 1,16 and for the children at age seven, the mean score was 1,32 ± 1,15. No significant age or gender differences were found in the results except in the interview section, where a significant gender difference between children at age seven was measured. Boys had more orofacial problems than girls. Results may be used as norm data when using the NOT-S in clinical practice.

Diss. (sammanfattning) Umeå : Umeå universitet, 2010. / Härtill 4 uppsatser.

<p>Barn med Down syndrom (DS) har problem med hypotonus och hyposensitivitet som begränsar rörligheten i ansiktets och munnens muskulatur, vilket därmed försvårar tal och sväljning. Målet med en intra- och extraoralsensorisk behandling är att öka medvetenheten och kontrollen av munnens muskulatur, dess rörelser, spänning och känsel.  Syfte med föreliggande studie var att undersöka effekten av en intra- och extraoralsensorisk intensivbehandling med eltandborste hos en grupp barn med DS och hypotonus. Effekten valdes att studeras utifrån områdena orofacial funktion, läppslutning, talproduktion och oralsensorik. Nio barn i åldrarna 6 till 12 år genomgick behandlingen med fyra behandlingstillfällen i veckan under fyra veckor. Före behandlingsstarten gjordes en baseline-mätning och efter utvärderades behandlingseffekten vid tre tillfällen, utspritt på tre veckor. Bedömningsmaterialet som användes bestod av NOT-S och kompletterande intervjufrågor till föräldrar, delar av STORM och SVANTE samt eftersägning.  Resultaten visar på att det sker någon form av förbättring för alla deltagare, inom minst ett område. Effekten av behandlingen varierade mellan deltagarna. Det är därför viktigt med individanpassad intervention, då samma metod inte alltid fungerar, är meningsfull och mottas lika bra hos alla patienter.</p> / <p>Children with Down syndrome (DS) have problems with hypotonia and hyposensitivity restricting movement of the face and mouth muscles, thus impeding speaking and swallowing. The goal of intra- and extraoral sensory processing is to increase awareness and control of the oral muscles, its movements, tension and oral sensation. The objective of this study is to investigate the effects of an intra- and extraoral sensory intensive treatment with electric toothbrush in a group of children with DS and hypotonia. The effects were studied from the perspectives of orofacial function, lip closure, speech production and oral sensitivity. Nine children aged 6 to 12 years underwent treatment with four sessions per week for four weeks. Before starting treatment, a baseline was performed and afterwards the effects of the treatment were evaluated on three occasions over a period of three weeks. Assessment materials included NOT-S and additional interview questions for the parents, part of STORM and SVANTE, as well as repetition. The results show that there is improvement for all participants in at least one of the studied areas. The outcome of the treatment varied between the participants. Therefore it can be important with individualized intervention, as the same method does not always work or may not be appropriate and not received the same by all patients.</p>

Barn med Down syndrom (DS) har problem med hypotonus och hyposensitivitet som begränsar rörligheten i ansiktets och munnens muskulatur, vilket därmed försvårar tal och sväljning. Målet med en intra- och extraoralsensorisk behandling är att öka medvetenheten och kontrollen av munnens muskulatur, dess rörelser, spänning och känsel.  Syfte med föreliggande studie var att undersöka effekten av en intra- och extraoralsensorisk intensivbehandling med eltandborste hos en grupp barn med DS och hypotonus. Effekten valdes att studeras utifrån områdena orofacial funktion, läppslutning, talproduktion och oralsensorik. Nio barn i åldrarna 6 till 12 år genomgick behandlingen med fyra behandlingstillfällen i veckan under fyra veckor. Före behandlingsstarten gjordes en baseline-mätning och efter utvärderades behandlingseffekten vid tre tillfällen, utspritt på tre veckor. Bedömningsmaterialet som användes bestod av NOT-S och kompletterande intervjufrågor till föräldrar, delar av STORM och SVANTE samt eftersägning.  Resultaten visar på att det sker någon form av förbättring för alla deltagare, inom minst ett område. Effekten av behandlingen varierade mellan deltagarna. Det är därför viktigt med individanpassad intervention, då samma metod inte alltid fungerar, är meningsfull och mottas lika bra hos alla patienter. / Children with Down syndrome (DS) have problems with hypotonia and hyposensitivity restricting movement of the face and mouth muscles, thus impeding speaking and swallowing. The goal of intra- and extraoral sensory processing is to increase awareness and control of the oral muscles, its movements, tension and oral sensation. The objective of this study is to investigate the effects of an intra- and extraoral sensory intensive treatment with electric toothbrush in a group of children with DS and hypotonia. The effects were studied from the perspectives of orofacial function, lip closure, speech production and oral sensitivity. Nine children aged 6 to 12 years underwent treatment with four sessions per week for four weeks. Before starting treatment, a baseline was performed and afterwards the effects of the treatment were evaluated on three occasions over a period of three weeks. Assessment materials included NOT-S and additional interview questions for the parents, part of STORM and SVANTE, as well as repetition. The results show that there is improvement for all participants in at least one of the studied areas. The outcome of the treatment varied between the participants. Therefore it can be important with individualized intervention, as the same method does not always work or may not be appropriate and not received the same by all patients.