Association of type and severity of nonsyndromic OROFACIAL CLEFTS with combined genotypes of RFC1 80 GA, MTHFR 677 CT, IRF6 rs642961 and rs2235371 gene polymorphisms in an Indian population Abstract By Chantal Hakim University of the Pacific. Arthur Dugoni School of Dentistry 2020 Introduction. Genetic etiology of nonsyndromic orofacial clefts comprises many genes acting together. However, little is known about their interactions. The purpose of our study was to analyze associations of phenotypic subtypes of nonsyndromic orofacial clefts with combinations of four genotypes involving candidate gene polymorphisms. Materials and Methods. We analyzed a large dataset of cases and controls collected in one location (Karaikal in India) and genotyped for four gene polymorphisms: RFC1 G80A, MTHFR C677T, IRF6 GA rs642961 and IRF6 CT rs2235371 (IRB approval Nr. 17-118 for existing data). The samples were tested for Hardy-Weinberg genetic equilibrium. Combinations of genotypes in cleft subsamples were compared with controls using Odds Ratio and Confidence Interval (95% significance level) calculations. Results. The Hardy-Weinberg equilibrium test showed that all samples were in genetic equilibrium. Some combinations of RFC1 G80A, MTHFR C677T, IRF6 GA rs642961 and IRF6 CT rs2235371 yielded increased or decreased Odds Ratio (OR>1 or OR<1).This means that subtypes of orofacial clefts were differentially determined by genotype combinations of four gene polymorphisms. Conclusions. Our results suggest that combinations of gene polymorphisms may modulate genetic risk in subtypes of nonsyndromic orofacial clefts. Such studies seem to be important for development of a general procedure and how a prevention plan for a specific location needs to be prepared, which data needs to be collected and which analyses need to be performed.

Trigeminal neuralgia is a painful neuralgia with a complicated pathology that is not clearly understood. Due to the ambiguity of the condition, patients often have to search for medical providers that specialize in trigeminal neuralgia, and even with the guidance of a specialist, some patients do not respond well to treatment.1 Despite the uncertainty surrounding the specifics of the disease, there are treatments available that can provide some level of pain relief for patients suffering from this disorder. When a patient does not respond well to medical therapy, surgery can be the next appropriate step in patient care management.2 However, while surgery can provide significant pain relief for patients who qualify, non-surgical treatments are needed during the interim, in the event of relapse, or for individuals who do not qualify for surgery. Cognitive behavioral therapy (CBT) is a well-researched treatment for chronic pain resulting from various diseases and disabilities.3 A systematic literature review was performed to identify if CBT decreases pain and improves the quality of life for patients diagnosed with classical, secondary, or idiopathic trigeminal neuralgia. More research is needed, but there is promising evidence in the literature that cognitive behavioral therapy can be useful for patients with trigeminal neuralgia to help them cope with their pain. In addition, there may be evidence that, while somewhat effective alone, cognitive behavioral therapy may be more effective in conjunction with another treatment such as medication. These results are encouraging for patients suffering with the chronic pain of trigeminal neuralgia, and future studies should further investigate the benefits of cognitive behavioral therapy for patients with trigeminal neuralgia.

(1) Background: Although most clinicians involved in the treatment of cleft patients agree upon the major importance of interdisciplinary cooperation and many protocols and concepts have been discussed in the literature, there is little evidence of the relevance of continuous interdisciplinary care. We aimed to objectify the type and number of therapeutic decisions resulting from an annual multidisciplinary follow-up. (2) Methods: We retrospectively analyzed the data of all 1126 patients followed up in the weekly consultation hours for cleft patients at university clinics in Leipzig for the years 2005–2020. We assessed the clinical data of every patient and specifically evaluated the treatment decisions taken at different points in time by the participating experts of different specialties. (3) Results: In total, 3470 consultations were included in the evaluation, and in 70% of those, a therapeutic recommendation was given. Each specialty showed certain time frames with intense treatment demand, which partially overlapped. Nearly all therapy recommendations were statistically attached to a certain age (p < 0.001). (4) Conclusions: There is an exceptionally high need for the interdisciplinary assessment of patients with cleft formation. Some developmental phases are of particular importance with regard to regular follow-up and initiation of different treatment protocols. The therapy and checkup of cleft patients should be concentrated in specialized centers.

Syfte: Syftet med denna studie var att utvärdera effekten av stimulerande gomplattor på den orala motoriken hos barn med Downs syndrom. Studien syftar också till att undersöka om behandlingen är kostnadseffektiv.Material och Metod: Studien är en systematisk litteraturstudie enligt PRISMAs kriterier och artiklarna kvalitetsgranskades med hjälp SBU: s handbok. De databaser som användes för litteratursökningen var PubMed, Cochrane Library, Scopus och CINAHL.Resultat: Screeningen av 107 unika artiklar resulterade i 14 relevanta publikationer. Kvaliteten på artiklarna var överlag låg och 9 artiklar bedömdes måttlig risk för bias och 5 artiklar bedömdes ha hög risk för bias. Alla 14 inkluderade artiklar visade en positiv effekt på minst en orofacial variabel men det finns ingen konsensus gällande utvärderingsmetoder för behandling med gomplattor, behandlingstider eller vilka orofaciala variabler som bör undersökas.Slutsats: I denna litteraturgenomgång identifierades ett antal studier, som undersökte effekten av behandling med stimulerande gomplattor. På grund av att artiklarna använde icke standardiserade metoder, hade olika behandlingstider och använde olika variabler för att mäta effekten, kan ingen slutsats dras från dessa studier. Fler RCT studier med större grupper av barn och standardiserade metoder för utvärdering behövs. / Aim: The aim of this study was to evaluate the effect of treatment with stimulating palatal plates on the oral motor function in children with Down syndrome. The study also aims to investigate if the treatment is cost-effective.Material and Method: The study is a systematic review made according to the PRISMA criteria. The articles were quality reviewed using Swedish Agency for Health Technology Assessment and Assessment of Social Services - SBU’s manual. The databases used for the literature search were PubMed, Cochrane Library, Scopus and CINAHL.Result: Screening of 107 unique papers resulted in 14 eligible publications. The quality of the articles was overall low. Nine articles were rated moderate risk of bias and 5 articles were rated high risk of bias. All 14 included articles showed a positive effect in one or more aspects on oral motor function but there is no consensus regarding evaluation methods for treatment with palatal plates, treatment times or which orofacial variables that should be investigated. No meta-analysis was made due to the lack of consensus.Conclusion: This literature review identified a number of studies, which investigated the effect of treatment with stimulating palatal plates. Due to the unstandardized methods, different treatment times, and different orofacial measuring variables, no consensus can be drawn from these studies. More RCT studies with larger groups of children and standardized methods for evaluation are required.

Syfte. Att retrospektivt undersöka relationen mellan central sensitisering i det orofacialaområdet och refererad smärta, som kliniskt fynd, samt psykosociala faktorer hos patienter medDC/TMD-muskeldiagnosen myofasciell smärta med refererad smärta (MPR). Studien syftadeäven till att undersöka skillnader gällande psykosociala faktorer mellan patienter somdiagnostiserats med DC/TMD muskeldiagnoserna myofasciell smärta med refererad smärta(MPR), lokal myalgi (LM) och patienter med orofacial smärta eller käkdysfunktion men ejkäkmuskeldiagnos (WMD) som kontrollgrupper.Material och metod. Information från 85 patienters DC/TMD-undersökning utförd påOrofaciala smärtenheten vid Malmö högskola mellan september 2012 till årsslutet 2013insamlades retrospektivt. Undersökta variabler inkluderade smärtintensitet, smärt-relateraddysfunktion, psykosociala faktorer (depression, ångest och stress) samt refererad smärta.Patienterna indelades i grupper baserade på muskeldiagnos enligt DC/TMD samt utbredning avsmärta. Non-parametrisk statistik användes och P < 0,05 betraktades som signifikant.Resultat. Patienter med MPR uppvisade en signifikant korrelation mellan totala antaletrefererade smärtlokalisationer och smärt-relaterad dysfunktion (rs = 0,43, n = 49, p = 0,002),depression (rs = 0,32, n = 49, p = 0,023) och stress (rs = 0,39, n = 49, p = 0,006). Patienter meden generell smärtutbredning uppvisade en signifikant högre grad av stress (p = 0,020) samt flerantal refererade smärtlokalisationer (p = 0,019) jämfört med patienter med lokal och/ellerregional orofacial smärta.Konklusion. Studien indikerar att grad av central sensitisering kan bedömas med hjälp avutbredningen av refererad smärta, undersökt enligt DC/TMD, hos patienter med diagnosenmyofasciell smärta med refererad smärta i det orofaciala området. Studien kunde inte påvisaskillnader gällande psykosociala faktorer mellan de undersökta grupperna. / Objective. The aim of this study was to retrospectively investigate the relation between referredpain, as a clinical finding, and psychosocial factors versus central sensitization in patients withmyofascial pain with referral (MPR) as assessed according to DC/TMD. The study also aimedto investigate differences regarding psychosocial factors between patients demonstratingmyofascial pain with referral (MPR) and patients diagnosed with the DC/TMD muscle diagnoselocal myalgia (LM) as well as OFP/TMD patients without masticatory muscular diagnose(WMD) as control patients.Material and methods. Patients’ medical records of 85 patients examined at the Orofacial PainUnit at Malmö University during September 2012 till the end of 2013 were retrospectivelyexamined for DC/TMD data. Examined variables included pain intensity, pain-related disability,psychosocial factors (depression, anxiety and stress) and referred pain. The patients weredivided into groups based on DC/TMD muscle diagnosis as well as extension of pain. Nonparametricstatistics were used and a probability level of P < 0.05 was considered as significant.Results. Patients with MPR demonstrated significant correlations between the total number ofreferred pain sites and disability score (rs = 0.43, n = 49, p = 0.002), depression (rs = 0.32, n =49, p = 0.023) as well as stress (rs = 0.39, n = 49, p = 0.006). Patients with generalized paindistribution demonstrated a significantly higher degree of stress (p = 0.020) as well as highernumber of referred pain sites (p = 0.019) than patients with local and/or regional orofacial pain.Conclusion. This study indicates that the degree of central sensitization can be estimated bythe extent of referred pain, as assessed according to DC/TMD, in patients with myofascial painwith referred pain in the orofacial region. This study could not detect a difference inpsychosocial factors between the three groups, myofascial pain with referral (MPR), localmyalgia (LM) and no masticatory muscle diagnosis (WMD).

Dissertation submitted in partial compliance with the requirements for a Masters Degree in Technology: Chiropractic, Durban University of Technology, 2011. / The relationship between TMD and dysfunction in the cervical spine has been reported in the literature and there are many case studies which have shown favourable results when treatment was aimed at the TMJ, cervical spine relationship. However, the numerous TMD treatment protocols described in the literature concerning this relationship, and the effectiveness of these treatments have not been well established. In spite of this many chiropractors treat TMD. TMD is a multifactoral condition and conservative treatment options need to be further investigated in order to determine if manual interventions directed at the cercival spine in the treatment of TMD are beneficial. Objectives: The purpose of this study was to compare myofascial trigger point therapy and manipulative therapy of either the TMJ, cervical spine or a combination of the two in order to determine their effectiveness for the TMD. Method: Thirty participants with TMD were randomly assigned to one of three treatment groups. Participants in each group received two treatments per week for two weeks with a follow up consultation in the third week. Data were collected before the commencement of the first, second, and fourth treatments and at the follow up consultation. Outcome measures included algometer readings, CROM, Mouth opening readings, NRS and a disability questionnaire. SPSS version 15.0 was used for analysis of the data. A p value <0.05 was considered as statistically significant. Multivariate testing was used for intra- and inter-group comparisons. Profile plots were generated to assess the direction and trend of the effect and to visually compare the trends in the different treatment groups. Results: Inter-group comparisons did not reveal any statistically significant different improvements between the three treatment groups. Conclusion: All groups responded favourably to treatment and showed trends towards improvement. However, statistically analysis revealed that no one treatment protocol was superior to the other. Although no definitive inferences may be drawn regarding the effectiveness of each treatment approach, within group trends indicated that the combination of the two treatment approaches may be preferred.

Dissertation submitted in partial compliance with the requirements for a Masters Degree in Technology: Chiropractic, Durban University of Technology, 2011. / The relationship between TMD and dysfunction in the cervical spine has been reported in the literature and there are many case studies which have shown favourable results when treatment was aimed at the TMJ, cervical spine relationship. However, the numerous TMD treatment protocols described in the literature concerning this relationship, and the effectiveness of these treatments have not been well established. In spite of this many chiropractors treat TMD. TMD is a multifactoral condition and conservative treatment options need to be further investigated in order to determine if manual interventions directed at the cercival spine in the treatment of TMD are beneficial. Objectives: The purpose of this study was to compare myofascial trigger point therapy and manipulative therapy of either the TMJ, cervical spine or a combination of the two in order to determine their effectiveness for the TMD. Method: Thirty participants with TMD were randomly assigned to one of three treatment groups. Participants in each group received two treatments per week for two weeks with a follow up consultation in the third week. Data were collected before the commencement of the first, second, and fourth treatments and at the follow up consultation. Outcome measures included algometer readings, CROM, Mouth opening readings, NRS and a disability questionnaire. SPSS version 15.0 was used for analysis of the data. A p value <0.05 was considered as statistically significant. Multivariate testing was used for intra- and inter-group comparisons. Profile plots were generated to assess the direction and trend of the effect and to visually compare the trends in the different treatment groups. Results: Inter-group comparisons did not reveal any statistically significant different improvements between the three treatment groups. Conclusion: All groups responded favourably to treatment and showed trends towards improvement. However, statistically analysis revealed that no one treatment protocol was superior to the other. Although no definitive inferences may be drawn regarding the effectiveness of each treatment approach, within group trends indicated that the combination of the two treatment approaches may be preferred. / M

Thesis "Myofunctional disorder of children" is about myofunctional disorder with a focus on logopedics and issues of human speech. The whole work has, however, significantly multidisciplinary character. The theoretical part of the thesis is focused on orofacial complex, swallowing and speech complex in all its breadth. It is also focused on nutrition problems at an early age and on related activities. Readers can also find information about orthodontic anomalies that are directly related to myofunctional disorder. A large area is dedicated to myofunctional disorder itself - terminology, etiology, symptomatology, diagnosis, prevention and therapy. As an important section of practical part of the work serves a research on a sample of 15 children diagnosed with myofunctional disorder. The sample was subjected to qualitative analysis, where an outcome demonstrates 3 case studies demonstrating the degree of seriousness of 3 myofunctional disorders. Additionally, there is also simple quantitative analysis and its outcome is an overview chart. KEYWORDS Myofunctional disorder, orofacial, tongue, ortodontic anomalies, breast- feeding, suckling, mastification, swallowing, speech - articulation.

The topic of this thesis is discussion of usage of myofunctional therapy on persons with communicative disorders. The main goal is to map the extent and possibilities of this therapy in speech therapy practice. The theoretical part deals with physiology and patophysiology of breathing, sucking, swallowing and the orofacial system. Further, in connection with myofunctional therapy it discusses its historical development, methodical approaches, utilities, therapeutical benefits and possibilities of education on this field. The empirical part contains a quantitative investigation, which analyses the extent and usage possibilities of this therapy by speech-language pathologists in the Czech Republic. Based on the data obtained by a questionnaire distributed to speech-language pathologists it can be stated, that about 20 % of the respondents do not use the myofunctional therapy in practice, while those (with one exception) never took part on an expert training. The offer of the trainings is rated as insufficient. The myofunctional therapy can be used on persons with orofacial disorders regardless of age or communicative disorder. KEYWORDS: myofunctional therapy, communicative disorder, swallowing, dysphagia, bite disorders, orofacial area

Hintergrund: Zahlreiche Studien beschreiben weltweit eine Zunahme angeborener Fehlbildungen. Diese sind in Deutschland die häufigste Todesursache im frühen Kindesalter. Die hier vorliegende Studie untersuchte lokale und nationale Trends der Prävalenz von Gastroschisis, Omphalozele, Spina bifida und orofazialen Spaltbildungen von 2000 bis 2010. Methoden: Die Prävalenz der 4 Fehlbildungen wurde im Zeitraum Januar 2000–Dezember 2010 mithilfe von 4 Datenquellen aus Leipzig, Sachsen, Sachsen-Anhalt und Deutschland untersucht. Ergebnisse: Die Prävalenz der Fehlbildungen betrug im Untersuchungszeitraum in Deutschland bzw. in Sachsen 1,97/2,12 (Gastroschisis), 1,63/1,48 (Omphalozele), 5,80/8,11 (orofaziale Spaltbildungen) und 2,92/2,50 (Spina bifida) je 10 000 Lebendgeborene. In Sachsen zeigte sich ein Trendanstieg, dessen Effektstärken jedoch sehr gering sind (OR/Jahr zwischen 1,01–1,09). Auch in Deutschland insgesamt wurde eine signifikante Zunahme der Fehlbildungen beobachtet (OR/Jahr zwischen 1,01–1,04), ausgenommen davon war die Lebendgeborenenprävalenz der Spina bifida, die abzunehmen schien (OR/Jahr 0,986 (0,97–1,0), p-korrigiert = 0,04). Schlussfolgerung: Ob ein tatsächlicher Anstieg der Prävalenzen besteht oder lediglich Artefakte einen Anstieg vortäuschen, ist unklar. Änderungen in der Erfassungs- und Verschlüsselungspraxis, Fehlcodierungen, Doppel- und/oder lückenhafte Erfassung der Fehlbildungen könnten die Daten verfälschen. Da nur in Sachsen-Anhalt und Rheinland-Pfalz das Auftreten von Fehlbildungen prospektiv erfasst wird, könnten im Übrigen auch nur in diesen Bundesländern zeitnah Veränderungen der Fehlbildungsprävalenz erkannt werden. Angesichts der anscheinenden oder scheinbaren Zunahme von Fehlbildungen und der offensichtlich fehlerhaften Datenlage ist ein berücksichbundesweites oder sind weitere regionale Register für eine bessere und zeitnahe Erkennung und Erfassung von Fehlbildungen in Deutschland notwendig.