EVALUATING SUSCEPTIBILITY LOCI FOR NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE IN YEMENI CLEFT PATIENTS
Elisabeth Mangold1, Khalid Aldurai2, Anne C. Böhmer1,3, Bärbel Lippke1,3, Nezar N. Al-Hebshi4, Ahlam Hibatulla Ali Esmail 5, Nikolaos Daratsianos6, Markus M. Nöthen1,3, Andreas Jäger6, Michael Knapp 7, Kerstin U. Ludwig1,3
1 Institute of Human Genetics, University of Bonn, Germany
2 Faculty of Dentistry, University of Science and Technology, Sana’a, Yemen
3 Department of Genomics, Life and Brain Center, Bonn, Germany
4 Department of Periodontology, Faculty of Dentistry, University of Jazan, Saudi Arabia
5 Cleft Lip and Palate Centre, Aden University, Aden, Yemen
6 Department of Orthodontics, University of Bonn, Bonn, Germany
7 Institute of Medical Biometry Informatics and Epidemiology, University of Bonn, Germany
Nonsyndromic cleft lip without or without cleft palate (nsCL/P) has a genetically complex etiology. Research into the genetic background of nsCL/P has seen major advances by the recent application of genome-wide association studies (GWAS). Several genome-wide significant susceptibility loci for nsCL/P were identified by GWAS. Most of these have been investigated in cleft patients of European and Asian ethnic background only.
In the present study we analyzed variants at genome-wide significant nsCL/P loci in a large and phenotypically well-characterized sample of Yemeni origin. Patients were recruited within the context of surgical outreach programs that took place in Yemen between 2010 and 2012. Controls were recruited from blood donors of the same ethnic origin. The sample included cleft patients (n=310), their relatives (n=107) and unaffected controls (n=426).
Twenty-four markers (SNPs, single-nucleotide polymorphisms) representing fifteen loci were genotyped using MassArray spectroscopy (n=23) or TaqMan assay (n=1). Genotyping was successfully performed in 261 nsCL/P patients and 425 controls.
Statistical analyses using Armitage trend test revealed SNPs at nine of these loci with nominal significant P-values in nsCL/P, the lowest P-value observed being 3.39 ×10-05 for rs987525, with a relative risk of 1.74 (95% confidence interval (CI): 1.22 – 2.47) for the heterozygous and 2.47 (95% CI: 1.55 – 3.93) for the homozygous genotype. In total, markers at four of the loci (8q24.21, 9q22, 10q25 and 13q31) withstood correction for multiple testing.
Six loci did not reveal nominal significant P-values. However, a tendency in the same allelic direction as seen in the initial studies was observed. None of the analyzed loci showed an opposite allelic direction when comparing to the initial study.
Our results reveal that a majority of nsCL/P risk loci identified in European and Asian ethnicities are also conferring risk for nsCL/P in the Arabian population.
MODIFIERS AND TRAJECTORIES OF ACADEMIC ACHIEVEMENT OF CHILDREN AND ADOLESCENTS WITH ORAL CLEFTS COMPARED TO CLASSMATES
George L. Wehby, Brent Collett, Sheila Barron, Paul A. Romitti, Timothy Ansley, Matthew Speltz
Background and Purpose:
Using a population-based sample, we recently showed that children with oral clefts scored lower than their classmates in multiple domains of academic achievement. The goal of this paper is to evaluate modifiers of these achievement gaps, and academic trajectories of children with oral clefts compared to unaffected classmates.
The study sample included children with isolated oral clefts born in Iowa from 1983 through 2003 and ascertained by the Iowa Registry for Congenital and Inherited Disorders. A sample of unaffected classmates was matched by sex, school/school district, and month/year of birth. Academic achievement was measured using standardized tests developed by the Iowa Testing Programs.
Household characteristics were measured from birth certificate data. The analytical sample included 588 children with clefts (3735 child-grade observations), and 1874 classmates (13159 child-grade observations). Regression models were used to evaluate interactions between achievement gaps and parental age, marital status, and education; maternal prenatal behaviors; and child birth weight and birth order. Trajectory analysis was used to model achievement over grade-level from elementary through high school.
Preliminary analyses showed that children of adolescent mothers experience larger achievement gaps than those born to 20-35 year-old mothers. Other household factors had little effect in modifying gaps.
Preliminary trajectory analyses showed that academic achievement was stable for most children with and without clefts. Consistent with previously reported differences, children with oral clefts were more likely than classmates to be in steady, “low achievement” trajectories in Language and Mathematics and less likely to be in “high achievement” trajectories in these areas.
Preliminary analyses indicate that most measured household characteristics have insignificant effects on observed achievement gaps. Trajectory analyses show that longitudinal trends are stable for most children with and without oral clefts, and that children with oral clefts are less likely to be in steady “high-achievement” trajectories in Language and Mathematics than classmates. Further analyses are underway to examine less frequent, but potentially informative trajectories among children with clefts.
Acknowledgments: The study was funded by grant 1 R03 DE022094 from the National Institutes of Health (NIH), National Institute of Dental and Craniofacial Research (NIDCR).
EPIDEMIOLOGY OF CLEFT LIP AND PALATE IN THE REPUBLIC OF MACEDONIA
Slave Naumovski, Radmila Dimovska – Clinic of maxillofacial surgery –Skopje , Macedonia
Aim: To estimate the incidence of cleft lip and palate in the Republic of Macedonia and variability related to the forms, gender and geographical areas.
Method: This is a retrospective study. The sources of the information were the data’s collected from the Clinic of maxillofacial surgery in Skopje and the Republic Institute of Health protection. The material comprised cleft children born in the Republic of Macedonia in the period between 1996-2010.
Results: The estimated incidence of cleft lip and palate was 1:1000, which is quite low. Because of the lack of the records and the difficulty of the manually data’s base search and concluding that having high responsibility in treating patients with cleft lip and palate, all these prompts creation of the State centre and National cleft team.
A POLYMORPHISM ON CHROMOSOME 8Q24.21 (RS987525) ASSOCIATES WITH SUSCEPTIBILITY FOR NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE IN IRAQI POPULATION
Fabio Massimo Abenavoli 1, Andrea Franchella3, Francesca Pacelli1, Carlotta Baluardo2, Sara
Zappacosta 2, Vincenzo Aiello2, Gianni Astolfi2, Donna Balestra2, Ali Edris2, Elia Bonomo Roversi2, Paola Franceschelli 2, Michele Rubini2
1 Emergenza Sorrisi ONG, Italy
2 Medical Genetics Unit, Dept. Biomedical and Surgical Specialty Sciences, University of Ferrara, Italy
3 Pediatric Surgery Unit, S. Anna Hospital, Ferrara, Italy
Cleft lip without or without cleft palate (CL/P) are the most common craniofacial congenital malformations. Most of CL/P cases are non-syndromic (nsCL/P), with a multifactorial etiology.
Recent genome-wide association studies (GWAS) have identified susceptibility loci for nsCL/P, among which one of the most relevant is located in 8q24.21. In particular, the polymorphism rs987525 has been shown to be highly associated with nsCL/P in population of European origin, while yielding only marginal significance in Oriental populations.
We present the result of case-control study of a sample of Iraqi population from Nasiryiah: 418 affected children, and 273 unaffected controls. The rs987525 C>A was genotyped using TaqMan assay. The frequency of minor allele (A) resulted significantly higher among cases compared to controls. Odd Ratio (OR) for carriers of heterozygous (C/A) genotype was 1.69 (95% C.I. 1.24-2.31, while OR for homozygotes (A/A) was 1.95 (95% C.I. 1.16-3.29). In the studied Iraqi sample the rs987525 variant acts in a dose dependent fashion, in agreement to what resuòlted from association studies in population of European origin, suggesting that 8q24.21 locus confers risk for nsCL/P also in Middle-East population.
IMPLICATION OF ANGIOGENESIS GENES IN THE ETIOLOGY OF CL/P : REVIEW OF THE LITERATURE
François-Fiquet C (1-2-3) MD PHD, Poli-Merol ML (1) MD, P Nguyen (2) MD, E Landais (3), C Leroy (3) MD, D Gaillard (3) MD, M Doco Fenzy (2-3)MD PHD
(1) Department of pediatric surgery, American Memorial Hospital, CHU Reims, FRANCE, REIMS
(2) EA 3801 Laboratory Champagne Ardenne University, SFR CAP santé Reims-Amiens, REIMS
(3) Genetic department, Hôpital Maison Blanche, CHU Reims, FRANCE, Reims, France
Cleft lip and palate (CLP) are the most common congenital craniofacial malformation. They have a multifactorial etiology and are the consequence of incomplete fusion of the facial buds.
The objective of this work was to study the implication of the genes of angiogenesis in the framework of studying the etiology of CL/P.
Our methodological approach included 3 steps:
First step: systematic and thorough analysis of the genes involved in CL/P including identified genes (OMIM, Pub Med)
Second step: identification genes involved in angiogenesis
Third step: study of the role of angiogenesis genes in the framework of studying the etiology of CL/P
The systemic analysis of genes involved in CL/P unveiled 95 genes including about ten that are known to be related to angiogenesis mechanisms. The literature has highlighted the role of angiogenesis in the formation of CL/P (P>L) via growth factors (TGFβ, PDGF C and Ra, FGF, TGFA, FGFR1, FGFR2, VEGF) and proteases (MMP/TIMP2). 18 genes involved in CL/P also interact with those of angiogenesis.
The angiogenesis genes involved in palate and lip formation are genes participating in many biological activities. But even if their implication is not synonymous systematically of defect of angiogenesis, they remain however a way of undeniable research.
Furthermore, their interactions with the environmental factors make it of good candidates in the field of the prevention.
Primary subjects area
IDENTIFICATION OF NOVEL GENETIC MECHANISMS IN NON-CODING REGULATORY ELEMENTS ASSOCIATED WITH OROFACIAL CLEFTS
Jo Huiqing Zhou, Department of Molecular Developmental Biology, The Faculty of Science, Radboud University, Nijmegen, Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Centre for Molecular Life Sciences, Nijmegen, The Netherlands.
Cleft lip/palate (CL/P) is one of the most common birth defects in man (1 in 700 live births) and genetic susceptibility plays an important role in the cause of the disease. So far only a limited number of CL/P cases can be explained by gene mutations. To dissect the genetic disease mechanism, we are taking a comprehensive approach: in addition to searching for mutations in the exonic regions by exome sequencing, we use our expertise in the non-coding regulatory elements to identify mutations and variations that affect gene regulation required for proper palate development.
The transcriptional regulator p63 is a master regulator for development of structures with the ectodermal origin. Heterozygous mutations in TP63 give rise to inherited clinical conditions and CL/P is one of the cardinal features. It can be anticipated that CL/P can be caused by genes and regulatory elements that are functionally related to p63. Therefore, we have taken an epigenomics profiling approach and generated a global map of enhancer elements that are regulated by p63 in human epithelial cells by ChIP-seq of p63 and epigenetic enhancer marks. In a family with syndromic form of CL/P, we identified a mutation that disrupts p63 binding to an enhancer element that regulates the expression of IRF6, another gene associated with CL/P syndromes. Our data strongly suggest that p63- regulated enhancers in the non-coding genome can contribute to the aetiology of CL/P and may be used to explore the underlying mechanism for Genome-wide Association Studies (GWAS) of CL/P, as the majority of the GWAS variants are located in the non-coding genomic regions. To this end, we have made a genome-wide catalogue of SNPs in p63-regulated enhancers and analyzed for SNPs with increased risk for complex disorders that phenotypically resemble p63-associated syndromes including non-syndromic CL/P.
CHARACTERISATION OF THE ROLE OF TGFΒ3 IN THE CONTROL OF HYALURONAN SYNTHESIS BY HAS2
Sarah Jones, Ian Ellis, Niall Woodley, Jennifer Galloway, Miriam Figge, Peter Mossey Dundee Dental Hospital, Dundee University.
TGFβ3 plays an important role in palatogenesis and the homozygous null mouse exhibits a defect in fusion of the palatal shelves, resulting in a secondary palate cleft (Proetzel et al., 1995; Kaartinen et al ., 1997). Establishing the role of TGFβ3 in palatogenesis has potential translational relevance to humans, as mutations in TGFβ3 and MSX1 may contribute to non-syndromic forms of oral clefts in South American populations (Suazo et al., 2010; Vieira et al., 2003). TGFβ3 has also been implicated in NSCL/P in patients of Central European origin (Reutter et al., 2008).
We have studied the role of TGFβ3 in controlling the expression of HAS2 using an in vitro model and the TGFβ3 homozygous null mouse. The in vitro model allows the expression of HAS2 to be monitored when TGFβ3 is added exogenously and whether the SMAD signalling pathway is activated.
The mouse model has allowed us to assess the spatial and temporal expression of HAS2 during palatogenesis.
We have used human palatal mesenchyme cells, grown in culture, as our in vitro model. Western blotting was used as a semi-quantitative device to assess levels of HAS2 and activation of the SMAD pathway. Localisation was established by immunocytochemistry and immunohistochemistry.
Addition of exogenous TGFβ3to cultured HEPM cells caused phosphorylation of SMAD 2 and 3 and their translocation to the nucleus. Levels of HAS2 also increased, reaching a maximum 24 hours after exposure to TGFβ3. In tissue sections, a decrease in the expression of HAS2 was observed in the TGFβ3 homozygous -null mouse at days E13.5 and 14.5, in comparison to that observed in analogous wild-type sections.
PREGNANCY PLANNING REDUCES THE RISK OF OROFACIAL CLEFTS
Mossey, PA* and Little J.
In the absence of a full understanding of the role of either genetics or the environment in the etiology of orofacial clefts (OFC), a variety of preventive strategies have been postulated and researched. The potential role of folic acid, and that of other vitamins, in the prevention of orofacial clefts has led to much research over the last fifty years (Tolarova and Harris, 1995, Czeizel, 2002). The aim of this study was to investigate the association between pregnancy planning and OFC in the United Kingdom.
Design and Participants:
Case-control study involving 191 children born with nonsyndromic OFC between 1997and 2000, and 247 controls, in Scotland and the Manchester and Merseyside regions of England.
There was an inverse association between planning for pregnancy and orofacial cleft in the offspring (OR = 0.51, 95% CI 0.33 – 0.79). An unplanned pregnancy together with smoking in the first trimester of pregnancy resulted in almost treble the risk of a child with an orofacial cleft when compared with those who planned their pregnancy and did not smoke (OR = 2.92, 95% CI 1.50 – 5.65).
Planned pregnancies were associated with a lower risk of orofacial clefts. Isolation of the elements of pregnancy planning implicated in these results is difficult. Current preconception advice needs to reach a wider audience; however, for maximum impact, efforts are needed to reduce the number of unplanned pregnancies.
MAXILLARY ARCH DIMENSIONS IN UNILATERAL CLEFT LIP AND PALATE: A PREDICTOR OF MIDFACE GROWTH?
Alexandra K Freeman (FY1 doctor)
Contributing authors: Shaheel Chummun (Registrar in Plastic surgery); Nigel SG Mercer (Consultant Plastic Surgeon)
South West Cleft Unit, Frenchay Hospital, Bristol
1. Measure pre-operative maxillary arch dimensions in a sample of UCLP patients.
2. Examine for a relationship between maxillary arch dimensions and 5-year-old-index scores.
The database of the South West Cleft Unit, Bristol (UK), was reviewed and a sample of patients with UCLP, treated by a single surgeon, was identified. Dental models taken at 3-months were retrieved.
Two independent assessors measured standard landmarks of maxillary arch dimensions. 5-year-old index ratings, generated by trained assessors, were also accessed. 5-year-old index scores were used to divide patients into 3 categories: excellent/good, fair, poor/very poor.
68 patients with UCLP were identified as suitable for inclusion. 84% of these patients had 3-month models; of those, 70% had a 5-year-old index score. Similar proportions of patients fell into the excellent/good and poor/very poor groups (38% and 42%, respectively).
The median width of the anterior cleft segment was found to be approaching significance when comparing the excellent/good and poor/very poor groups (7.14mm v. 9.01 mm, p=0.09). There was no significant difference in the AP distance of the cleft, inter-canine distance or the width of the posterior cleft segment between the excellent/good and poor/very poor groups.
This is the first study to consider maxillary arch dimensions at birth, when examining facial development in 5-year-old UCLP children. Our study found anterior width of the cleft to be the greatest predictor of mid face development by 5 years, however, a larger cohort of patients will need to be examined before truly representative conclusions can be drawn.
When considering midface development in UCLP, and specifically when using research tools such as the 5-year-old index, it may be important to consider maxillary arch dimensions of the cleft as a possible confounding factor.
PRIMARY ORTHODONTIC THERAPY IN PATIENTS WITH BILATERAL CLEFT LIP AND PALATE
Julija Radojicic, Tatjana Perovic, Faculty of Medicine, University of Nis, Serbia
The objective of this paper is to show the efficiency of orthodontic therapy in a male infant with bilateral cleft lip and palate.
Materials and methods:
Primary orthodontic therapy is conducted via a specifically designed orthodontic device (the RBJ stimulator). The RBJ stimulator is without extraoral fixation. The feeding of an infant is made possible (above all else) through the series of stimulators which are continually made in certain time intervals (immediately after birth, one week after birth, two weeks after birth, one month after birth, and afterwards once a month) and are applied inside the mouth of the infant. In addition to that, positive orthodontic effects that are achieved (reduction of the size of the cleft and retrusion of the premaxilla) create optimal conditions for easier and more successful surgical operations that are to come. This paper shows the complete process of creation of the RBJ stimulator, which starts with taking the impression of the upper jaw of an infant with bilateral cleft lip and palate, continues with casting the model and constructing the RBJ stimulator and ends with the application of the stimulator inside the mouth of the infant.
On the basis of complete documentation (the three-dimensional analysis), which contains all phases of the development of the upper jaw of an infant (from birth to the first surgical intervention), it is obvious that there are certain positive changes in the morphology of the damaged upper jaw with such severe type of the cleft.
The RBJ stimulator has a double role: it enables a natural way of feeding (eliminating the gastric tube) and produces significant orthodontic effects. The absence of extraoral fixation creates better comfort of the patient and has positive effects on the parents as well as the environment.
TRAINING COURSES ORGANIZED BY THE PATIENT GROUP ALA TO ESTABLISH A NETWORK OF TRUSTED SPEECH THERAPISTS TO PROVIDE SPEECH THERAPY NEAR HOME TO ANY CHILD BORN WITH A CLEFT IN BULGARIA (AUGUST 2012 AND JULY 2013)
Markova Y.; Boteva Z.; Yordanova N.; Kazakova M.; Anastassov Y; Angelova J.; Voinov P.; Tcarvulanova P.; Gyulev A.
Besides surgery and medical care most children with clefts need regular and continuous speech therapy and consulting. To ensure a rich network of experts covering the territory of Bulgaria and providing accessible speech therapy near home to each child with cleft, ALA organized courses for the training of speech therapists from different cities in two consecutive years.
Courses took the form of Camps for children, speech therapists and parents. Speakers were the leading speech therapy specialists from Sofia and Plovdiv. The courses were fully funded by ALA andparticipation was free.
During the theoretical sessions we discussed the main issues in the speech therapy for congenital facial abnormalities. Workshops were held in diagnostics and therapy. Each of the speakers showed a video session or actual therapy session in front of the audience. Participant children aged 3 to 12 years were happy in the pleasant atmosphere during the camp and showed their progress and confidence in their clinician.
The main objectives of the courses were:
• Theoretical and practical preparation in diagnostic and therapy of communicative disorders related with clefts and facial abnormalities.
• To create a Network “Trusted speech therapists” and make speech therapy available for patients near their residence. Guidance was also provided on completing the new the National Register and Database for facial anomalies – DFA-bg.org.
• Viewing speech records and reporting on the outcome of the therapy.
• Include speech therapists and patients in a project for additional financing (2012 – 2014) provided by ALA, European Cleft Organization and Smile Train.
The Courses were helpful, providing the opportunity for training as much as facilitating and reinforcing the communication between professionals and patients.
CLEFT PALATE INTERNATIONAL SPEECH ISSUES – CLISPI – AN INTERACTIVE WEBSITE
Anette Lohmander, PhD Karolinska Institute, Department of CLINTEC, Division of Speech and Language Pathology, Sweden
A standardized procedure for assessing speech in CLP is of utmost importance for the possibility to reliably evaluate the outcome of CLP treatment. Regarding speech material minimum standards have been suggested but often without or with only minor recommendations for data collection and documentation procedures.
The purpose of this presentation is to demonstrate a web-based tool for good practice in cleft palate speech assessment. A new website CLISPI – CLeft palate International SPeech Issues – has been further developed from the Eurocran Project, with recommendations for data collection and exercises for evaluation. To date seven different languages (English, Norwegian, Finnish, Swedish, Polish, Danish, Portuguese) are present and can, for example, be used for preparation of speech assessment in clinical audits. CLISPI is thought to be a useful support in the development of routines for speech assessment in CLP that also allows comparisons of treatment outcome, as well as promote training of speech evaluation.
SWALLOWING THERAPY AS A PREVENTION FOR ORTHODONTIST DISTURBANCES BY CHILDREN WITH CLEFT LIP PALATE IMPROVED VERSION OF ORAL FACIAL EXERCISE COMPLEX – PROF. MUTAFCHIEV’S SYSTEM
Nina Iordanova, speech and language therapist, Therapy Center Pumpelina, Sofia
The paper present’s the dependence between feeding and swallowing abilities and orthodontist disturbance by children with cleft lip palate. The author explain the need of improvement of the existing in Bulgaria system with oral facial exercises written from Prof. Mutafchiev and it verification during the last 15 years of experience with children’s therapy.
The improvement of existing system
The Early childhood therapy and prevention, witch focus is age 0 to 3 years, imposed the need of developing a system for swallowing correction that influence also on jaw development. The existing oral facial exercise system, described in prof. Mutafchiev’s Orthodontist atlas did not covered the need of early therapy system, because the exercises were prepared for children after 5 years. That is why the existing system was combined with principle and methods from Castilo Morales Oral facial therapy system as well as with general childhood development improvement. Later the new exercises was fixed also according to the pre and post surgery requirements for feeding and speech therapy for children with cleft lip and palate.
The Verification of the new exercises
The verification is made during the years with the help of different measuring scales for feeding skills and speech abilities. The focus of the therapy always was the movement of the tongue, lips and jaw, the right swallowing and the properly pronunciation. The scales will be shown and mentioned during the paper presentation.
Application of the new exercises
The new exercises are applicable for all children with deferent disabilities and with difficulties for swallowing and feeding, as well as before and after the orthodontist therapy.
The new exercises complex for oral facial therapy provides possibilities for prevention as well as joint therapy procedure between speech and orthodontist therapy, especially for children with cleft lip palate, because of the possible delay of jaw, lip and tongue function development of those children.
IS THERE ANY RELATION BETWEEN TRANSVERSE CRANIOFACIAL FEATURES AND CRANIOFACIAL SYMMETRY OF THE PARENTS OF CHILDREN WITH CLEFT LIP AND/ OR CLEFT PALATE IN LATVIA?
Ieva Maulina, Riga Stradins University, Institute of Stomatology, Cleft Lip and Palate Centre, Latvia
There are no common phenotypic features in parents of children with orofacial cleft (OFC), but the search for such features is ongoing. The existence of such features could be used as a risk indicator for genetic predisposition to OFC.
To clarify is there any relation between transverse craniofacial features and craniofacial symmetry of parents of children with cleft lip with or without palate (CL±P), children with isolate cleft palate (CP) and individuals without family history of OFC in Latvia.
Materials and methods
Posteroanterior cephalograms were obtained and analysed from all participants: 37 couples of noncleft biological parents of children with nonsyndromic CL±P and 17 couples of noncleft biological parents of children with nonsyndromic CP. The control groups consisted of 40 females and 42 males, who had no history of clefts in the family.
Statistically significant differences (decreased facial and biorbital width) were found between fathers of children with CP and male control group. Asymmetry of zygomatic width (left side dominance) was evident in all study groups compared to control individuals. Left side dominance was detected in the maxillary region in the mothers of CP children and in both control groups.
Results confirmed differences among the parents of children with CL±P, the parents of children with CP, and the control groups. One common feature differed between the study groups and the control groups: asymmetry of zygomatic width was evident in all study groups with left side dominance.
CHANGING STRATEGY AND IMPLEMENTATION OF A NEW TREATMENT PROTOCOL FOR CLEFT PALATE SURGERY IN “MARIA SKLODOWSKA CURIE” (MSC) CHILDREN’S HOSPITAL, BUCHAREST, ROMANIA.
Radu Iulian Spataru (1), Niculina Bratu (1), Jan Lilja (2), Hans Mark (2), Monica Ivanov (1), and Dan Iozsa (1)
(1) Department of Paediatric Surgery “Maria Sklodowska Curie” (MSC) Children’s Hospital, Bucharest, Romania. (2) Department of Plastic Surgery, Sahlgrenska University Hospital, Gothenburg, Sweden
In “Maria Sklodowska Curie” (MSC) Children’s Hospital, Bucharest Romania the cleft palate repair was performed according to Von Langenbeck principles since 1984. The speech was good in most patients, but in patients with wide clefts we found a high percentage of postoperatory fistulae and abnormal speech patterns due to short length and limited mobility of the soft palate. In November 2009, the protocol was changed with the Gothenburg Delayed Hard Palate Closure (DHPC) technique. The present evaluation was performed to study the implementation of the new technique.
Between November 2009 and March 2013, 238 patients with cleft palate were admitted: 129 isolated cleft palate, (ICP) 73 unilateral cleft palate (UCP) and 36 bilateral cleft palate (BCLP). In these 238 patients, 343 different surgical interventions were performed. Soft Palate Repair (SPR) and Hard Palate Repair (HPR) were performed with the Gothenburg DHPC procedure.
The transfer of the DHCP technique was realized successfully during three meetings between the Romanian and the Swedish team. All patients 189 SPR and 64 HPR were operated without major complications and there were no differences in the results between the Gothenburg surgeons and the MSC surgeons.
The 253 surgical interventions with the SPR and HPR technique have been proven easy to teach and learn, and have been successfully performed without major complications. For the cleft patients at the MSC hospital it meant earlier surgery, less re-interventions and complications.
FURLOW REPAIR: A SINGLE SURGEON’S OUTCOMES
Shaheel Chummun, Anne Roberts, Liz Albery and Nigel SG Mercer Cleft Unit of the South West of England, Bristol, United Kingdom
Background and purpose
The Furlow repair is an established procedure for both primary closure of the soft palate and surgery for VPD. This study assesses a single surgeon’s outcomes of patients following Furlow repair performed as a secondary procedure in cases of repaired cleft palate with VPD, and for the primary repair of submucous cleft palate.
The database of the Cleft Unit of the South West of England, Bristol, United Kingdom was reviewed. Patients with submucous cleft presenting with velopharyngeal insufficiency and those requiring speech surgery following a cleft palate repair were identified. All patients identified had undergone a Furlow repair by the senior author.
All subjects had pre and post-operative speech recordings by a specialist speech and language therapist and all underwent pre and post-operative videofluoroscopy and/or nasendoscopy. Speech recordings were consensus listened to by two internal CAPS A trained listeners and 10% of recordings were subject to blinded external listening by an external CAPS A trained listener.
126 patients (60M: 66F) were identified of which there were 13 BCLP, 24 UCLP, 48 CPO and 41 SMCP. The median age was 6 years 5 months (range: 2 years 7 months – 57 years 2 months). 79% of patients had their speech normalised by the Furlow Repair.
The mean velopharyngeal gap was 2.9 mm preoperatively (range: 1-15mm) and 0.9mm postoperatively (range: 0-12mm); the reduction in gap size was noted to be significant (p< 0.05, Wilcoxon two-tailed test). 31 patients required further surgery (Modified Hynes: 23; Superiorly based flap: 3 and other: 5). There were no infections. 1 patient developed a pinhole fistula and 1 patient has some slight ooze at the surgical site but the repair healed primarily.
Furlow repair delivers a high success rate in normalisation of speech with a low complication rate.
COMBINED STRATEGIES OF THE CLEFT CENTRE IN PLOVDIV, BULGARIA, AND THE PATIENT/PARENT ORGANISATION, ALA, TO IMPROVE CLEFT CARE IN BULGARIA AT A NATIONAL LEVEL
Anastassov Y. Voynov P., Khater R., Velikova R., Gigov K., J.Anguelova, Kazakova M., Maneva S., K.Bojikova, N. Hashova, I. Markova, P.Tcarvulanova , At.Gyulev.
Cleft lip and palate is not a priority for the Health Ministry in Bulgaria. Since 2003 only part of the treatment needed is reimbursed by the National Insurance Company. There is no official data about the number of cases born each year per year, nor for how many children with clefts have ended up in orphanages. In the last 10 years the Cleft centre in Plovdiv has emerged as the main specialist centre in Bulgaria, treating around 80% of all cases nationally. The Centre has enjoyed the support of, and good working relations with, ALA – the Bulgarian Patient/Parent Association, Professor Philippe Pellerin from Lille, Smile Train and in recent years – ECO – the European Cleft Organisation. A survey we conducted for UNICEF Bulgaria in 2010 showed that more than 30 % of families were advised to leave their child in an orphanage because of the cleft with the argument that “feeding difficulties would be too complex for the family to cope with’ The low level of Governmental involvement prompted the neeed to develop a collaboration between parents and specialists and to lobby for regulatory standards at a National and European level. Having a single centre model gives us the opportunity to change the situation in the country more easily. All this has become possible thanks to the Patient/Parent Organisation – ALA – and the creativity and support of ECO through several projects enhancing the multidisciplinary aspects of the care not covered by the health service.
We have and are continuing to establish networks of trained parent support contacts, specialist nurses, speech therapists, orthodontists, and ENT specialists, ‘completing the circle of care’ for children born with clefts in Bulgaria. Furthermore the Medical University of Plovdiv and the Ministry of Education, in a partnership with ALA, have developed a national register and database for facial anomalies – DFA-bg.org. . The Register is now up and running and in time will be used for multicentre comparisons at a national and hopefully pan-European level. The functionality of the database is unique and we believe that our model could be expanded to other countries.. Our aim is to be able to demonstrate that with the right support and care children born with clefts will go on to lead a normal life – this is the message we need to get across to the government and National Insurance Company.
TREATMENT APPROACH FOR CLEFT PATIENTS IN TURKEY
Prof. Dr. Servet DOGAN
Ege University, Dentistry Faculty, Department of Orthodontics, TURKEY
In Turkey, cleft patients have been treated by different cleft teams at the university clinics and in public health institutions, for many years. The main question for these patients is that which treatment protocol is more effective. To find the answer, a lot of intercenter and multicenter comparision studies were done from past to present in the world.
The aim of this lecture is to exhibit the treatment approaches from newborn to adulthood in Turkey and present the patients treated. In this lecture, the results of the comparative study with Eurocleft named “Dental Arch Relationships in Turkish Patients with Complete Unilateral Cleft Lip and Palate with birth of cohort being between 1976-1990 : a comparison with Eurocleft” accepted in 06.2012 for publication in the Cleft Palate-Craniofacial journal, will be presented as well. Because of the lack in archieve system in this comparative study, only the models of the patients aged 9 years old, born between 1976 to 1990 were evaluated, by using Goslon Yardstick. The final situation of cleft patients, from the clinic of Ege University, by using the same method for 35 unilateral cleft lip and palate patients, aged 9 years old, born after 2005, will be also presented.
These studies are important to see where we are as a country so that we can improve the treatment protocol in cleft patients.
CEPHALOMETRIC PARAMETERS AND THE NEED FOR OTHOGNATHIC SURGERY IN PATIENTS WITH UNILATERAL CLEFT LIP AND PALATE
Plut A., Matek I., Drevenšek M., Koželj V.
Patients with unilateral cleft lip and palate (UCLP) usually present with different degree of maxillary hypoplasia. Sometimes orthognathic surgery is needed to correct the malocclusion and improve facial aesthetics. The aim of the present study was to compare cephalometric parameters of UCLP patients with patients without a cleft and to determine the cephalometric parameters that indicate the need for orthognathic surgery in UCLP patients in adulthood.
Subjects and Methods:
The cleft group consisted of 37 consecutive patients with UCLP. The control group consisted of 26 patients treated at the Department of Orthodontics, University medical centre Ljubljana. Lateral cephalograms were analysed. The need for orhognathic surgery in the UCLP group was assessed on profile photographs. The cephalometric values of UCLP patients who would need orthognathic surgery according to profile photos and those who would not need it were compared.
Comparing the cleft group to the control one we found out that SNA, ANB and SNB angles were statistically significantly smaller in the cleft group (P<0,001; P<0,001; P<0,05). Gonial angle, inclination of the maxilla and mandible were higher in the cleft group (P<0,05). Comparison in the cleft group showed that ANB angle and Wits appraisal were significantly smaller and tendency to vertical facial type were more pronounced in those UCLP patients who were on photos recognised as candidates for corrective osteotomy.
In the cleft group tendencies towards bimaxillary retrognathism and vertical facial type were observed.
The more negative ANB angle and Wits appraisal together with more pronounced vertical facial type indicate that a UCLP patient would benefit from orthognathic surgery.
VESTIBULAR ORIENTATION A REFERENTIAL PLANE FOR ANALYSIS OF CRANIOFACIAL MALFORMATIONS
P. Pellerin; R. Fénart; A. Wolber; P. Guerreschi; M. Vinchon.
Usual cephalometry for analysis of facial deformities are based upon landmarks selected out of the skull base which is considered as normal. It is reliable for pure facial deformities but as soon as the skull base itself is involved all the landmarks are lost. Skull base is involved in most of craniofacial conditions.
So we need a reliable way to orientate the C.T. scan. The vestibular orientation which is based upon the plane of the lateral semicircular canal is based on the functional relationship to the human phylogenesis and ontogenesis to the gravity, many works have proved its usefulness for comparative craniology. Since 1993 it is available in human thank to the hight definition of C.T. scan and we use it for studying all our cases of craniofacial malformations. It has been found very useful for the analysis and understanding of complex cases, for the surgical planning and the follow up.
EVALUATION OF THE ACCURACY AND REPRODUCIBILITY OF NON-VERBAL FACIAL ANIMATIONS USING A 4D IMAGING SYSTEM
Xiangyang Ju1,2, Balvinder Khambay1, M Peng, Emer O’Leary1, Thamer Al-Anezi1 and Ashraf Ayoub1
1Biotechnology & Craniofacial Sciences Research Group, Glasgow University Dental hospital & School, MVLS college, Univeristy of Glasgow, Glasgow, UK
2Medical Device Unit, NHS Greater Glasgow and Clyde, Glasgow, UK Xiangyang.Ju@glasgow.ac.uk
The aim of this study was to validate the automatic tracking of facial landmarks in 3D image sequences; and to evaluate the accuracy and reproducibility of capturing facial animations using a real time 3D imaging system (4D). Thirty-two participants (16 males and 16 females) were recruited, and non-verbal facial animations of maximal smile, check puff and lip purse were captured from the participants by the 4D imaging system.
A single operator manually digitised the landmarks on the 3D facial models and their locations were compared with those of the automatically tracked ones. To investigate the accuracy of manual digitisation, the operator re-digitised the same set of 3D images of 10 subjects (5 male and 5 female) at 1 month interval. The discrepancies in x, y and z coordinates between the 3D position of the manual digitised landmarks and that of the automatic tracked facial landmarks were within 0.17 mm. The mean distance between the manually digitised and the automatically tracked landmarks using the tracking software was within 0.55 mm. The automatic tracking of facial landmarks demonstrated satisfactory accuracy which would facilitate the analysis of the dynamic motion during facial animations.
Anatomical facial landmarks were digitized on the first frame of the sequence and tracked automatically. The same facial animations of the same participants were captured twice with an interval of 15 minutes to examine the reproducibility of these expressions. The set of landmarks was spatially-temporally aligned and the magnitude, speed of reaching the animation peaks, and the similarity of the dynamic movements between the first and second captures were calculated.
The statistical analysis revealed that all participants could reproduce their expressions to its facial in magnitudes but could not reproduce the speeds to reach the peak expressions. The females showed greater reproducibility of facial animations than males since on average their difference of magnitude and difference of speed were smaller than that of males; and their similarities were higher than that of males. The maximal smile animation proved to be more reproducible than the other two animations in terms of similarities.
THE EXPERIENCE IN EARLY INTERVENTION OF ASSOCIATION CHILD AND SPACE
Lyubomir Zhupunov, pediatritcian
Vessela Banova, clinical psychologist, psychoanalyst
The Child and Space Association is a NGO founded in 2004.Our activities are focused in the field of children with disabilities and mental disorders. In 2010 we implemented a project for early intervention based in the building of The Home for the Medical and Social Services for Children from 0 to 3 years old in Ruse.
Who are the recipients and what kind of problems we deal with and we try to solve: “the mentally disturbed child”, and any other child with disabilities or with other disorders may address their difficulties either to healthcare system, or to the system of social services; there is a lack of connection and coordination between these systems; both systems have their efforts focused on the child and parents are accepted mainly as “accompanying him”; Due to the conception the goal-group the service of the CEI is selected very precisely: newborn babies and little children with disorders and disabilities, premature born babies, newborns with extremely low- birth weight and they are all together with their families.
The CEI is developing and offering : activities goaled directly to children; activities goaled to the parents of these children. The CEI provides one week reception of the mother and the baby right after the discharging from the hospital, which may be repeated from time to time in determine intervals. The CEI works very closely with the Department for Child Protection. The parents are taking an active part in making the plans of rehabilitating program for there child. The CEI treats them like partners.
All the results till now from the activity of the CEI show the exceptional necessity of this kind of method of approach and services directed not only to babies and children but manly directed to their parents who are in a very hard moment of there lives and the personal connection with there children.
Anesthesia, surgery and academic performance in adolescence for individuals with oral cleft: a nationwide, population-based, follow-up study.
Eifer Møller S*; Christensen K (Copenhagen, Denmark)
To address possible long term neurotoxic effect of anesthesia in early life by investigating differences in academic performance in adolescence in individuals with isolated oral clefts including cleft lip (CL), cleft lip and palate (CLP) or cleft palate only (CP) relative to the background population.
Based on nationwide Danish registers, the average academic test scores for pupils in 9th grade (age 15 or 16), as well as the proportion not attaining a test score, are estimated for individuals with oral cleft born 1986-1990 and a 5% random sample born the same years. Depending on type of cleft, oral cleft children are exposed to anesthesia at different ages in infancy, at 2 month of age (CL, CLP) and 2 years of age (CLP, CP), respectively. Thus, distinct exposure windows are present and especially vulnerable time periods of neurotoxic effect may be identified. Multiple linear and logistic regression analysis are performed and adjusted for sex, birth weight, gestational age, and maternal and paternal age and education.
588 individuals with isolated oral clefts born in Denmark from 1986 to 1990 were included, along with a 5% random sample of 14,677 individuals. The average test scores were 8.10 (95% CI 7.93;8.27), 7.83 (95% CI 7.67;8.0) and 7.85 (95% CI 7.67;8.04) for CL, CLP and CP, respectively, compared to a test score of 7.99 (95% CI 7.97;8.0) in the reference group. The proportion not attaining a test score was 14.7% higher in the CP group compared to the reference group, which corresponded to an adjusted odds ratio of 2.6 (95% CI 1.78;3.76). No statistically significant differences of non-attainment could be found for CL and CLP compared to the reference group.
Academic performance in adolescence of individuals with CL and CLP is similar to that of the background population, which indicates that exposure to anesthesia in early infancy, does not influence academic performance in adolescence. Individuals born with CP have a higher nonattainment and a lower average test score, suggesting that a subgroup of individuals with CP may suffer from undetected associated anomalies or additional psychosocial stressors that are specific to CP.
SURGICAL OUTCOME IN ISOLATED CLEFT PALATE PATIENTS; A MULTI-CENTRIC RETROSPECTIVE STUDY
A Eberlinc, M. Kočar, P. Knežević, B.Trifunović, Y. Anastassov, K. Gigov, V. Koželj,
Surgical protocols for isolated cleft palate patients are quite diverse. Four out of nine centers from South Eastern region of Europe gave positive respond to the invitation for cooperation; Ljubljana (Slovenia), Zagreb (Croatia), Beograd (Serbia) and Plovdiv (Bulgaria).
The goal of the present multi-centric retrospective study was to evaluate the outcomes of primary treatment of cleft palate and to compare different surgical protocols between different centers.
Materials and methods
The questionnaire which included 40 parameters about surgery of the cleft palate was made by the surgeon and the anesthesiology team of Ljubljana. Data were collected from hospitalization records of patients operated in the years 2010, 2011 and 2012.
210 cleft palate patients were included in the study. Comparative analysis of collected data will be presented. Preliminary analysis revealed the differences between surgical protocols in the following parameters: pre-operative examinations, patient age at the time of surgical intervention, operative techniques, antibiotics, the use of palatal pack, local infiltration of vasoconstrictor and anesthetic, length of in- hospital stay.
The analysis revealed no differences in the final outcomes of the primary surgical treatment in cleft palate patients between centers. The cooperation and exchange of collected data between centers are possible in spite of geographic distances. Some data were unavailable due to the fact that the study was retrospective. Prospective, multi-centric studies should be designed in the future.
COMPARISON OF THE ESTHETIC OUTCOMES OF LIP AND NOSE IN CHILDREN WITH UCLP IN TWO CENTERS
M. Kočar, A. Eberlinc, K. Gigov, Y. Anastasov, V. Koželj, D. Sapundžiev
The goal of treatment of unilateral cleft lip and palate patient (UCLP) is to achieve esthetically perfect result with normal morphology and function of the affected structures.
Aim: We evaluated esthetical outcomes of the lip and nose obtained with two different treatment protocols in two centers.
Materials and methods:
In centre A they use preoperative orthopedics with the plate and nasal stent from birth to 6 months of age and Tenisson method for the lip repair at 6 months. In centre B Millard method is used for the lip closure, performed at 3 months of age without any form of preoperative orthopedics. Centre A participates with 34 and center B with 37 non-syndromic consecutive children with UCLP older than 6 years. Aesthetics of the lip and nose was evaluated using numerical scale, separately for the white and red lip, the scar, symmetry and position of the nasal ala and nasal triangle. Rating performed two evaluators from each center on frontal and basal view pictures. For each variable points were scored. Results were statistically analyzed using Mann-Whitney rang test and Wilcoxon test, reliability of raters was tested with Cronbach´s Alpha test.
Statistically significant differences between centers were found for white lip (p=0,000), red lip (p=0,000), the scar (p=0,000), and nasal ala (p=0,051) in favor of centre A. Differences for the nasal triangle was not statistically significant (p=0,196). The reliability between the raters was high.
It seems that lips from center A look better, between the noses there is no difference. It is not clear if the difference is associated with the method of the lip repair or with the used presurgical orthopedics.
QUALITY ASSESSMENT AUDIT: THE REPORTING OF ABSTRACTS OF RANDOMISED CONTROLLED TRIALS
Ifeacho S1, Hannan SA2
1 ENT Specialist Registrar, Lister Hospital, East & North Hertfordshire NHS Trust, England
2 Consultant Otorhinolaryngologist, Royal National Throat Nose & Ear Hospital, University College London Hospitals NHS Foundation Trust, London, England
The aim of this audit is to assess the quality of published abstracts of randomised controlled trials using the revised (2010) guidelines of the Consolidated Standards of Reporting Trials (CONSORT) statement.
Materials & Method
A literature search was performed to identify cleft lip and palate-related randomised controlled trials published after 2010. A 17- point checklist based on the CONSORT statement was used to assess the completeness of each trial abstract
Twelve abstracts of randomised controlled trials were identified. 17% of abstracts were identified as randomised controlled trials by the title of the abstract alone. A third included author contact details.
Trial design was not reported in any abstract. A clear study objective, trial intervention, measured outcome and conclusion were reported in 92%, 100%, 100% and 100% of abstracts respectively. All abstracts included details of participants, how many were randomised and the method of randomisation. However, the reporting rate for blinding was 17%. The reported rate of harmful effects arising from the trials was 67%. No trials reported details on trial registration or funding.
The overall quality of abstract reporting was good, however there were specific items that were consistently missing from all abstracts perhaps due to a universal lack of awareness of the evidencebased CONSORT statement guidance. Adopting the CONSORT guidance will improve the quality of abstracts which is important as readers frequently base their assessment of a trial on the information obtained from the abstract alone.
The identification of only a small cohort of randomised controlled trial abstracts relating to cleft lip and palate in the literature may reflect the difficulty in carrying out this type of research in a surgical setting. However, it is imperative that the findings of such studies are reported clearly and completely to communicate salient points to the reader.
VALIDATION OF CLEFT SUBPHENOTYPING ACCURACY AS RECORDED ON THE CLEFTSIS DATABASE
McBride WA, Mossey PA, McIntyre GT. Dental School, University of Dundee
To assess the reliability of LAHSAL subphenotyping and the completeness and accuracy of the CLEFTSiS (Cleft Service in Scotland) electronic patient record (EPR).
Design and Setting:
Retrospective study, University of Dundee
Materials and methods:
From the creation of the CLEFTSiS EPR (April 2000) until September 2011, all 1092 cases registered on EPR were considered. Following exclusion of syndromic, atypical and submucous clefts, still births, abortuses, non-cleft velopharyngeal incompetence, Pierre Robin Sequence, or Simonart’s bands; 730 case records remained for analysis. Pre-surgical photographs were assessed by observer 1 to determine the LAHSAL subphenotype for each case. Images that were absent, only partially demonstrated the intended anatomical site or were unclear were excluded. Data provided from the CLEFTSiS EPR was compared to the assessments made by Observer 1 using the Kappa statistic. Intraobserver reliability was ensured by the recoding of 30 randomly selected cases one month after the initial assessment; whilst inter-observer reliability was determined with an additional three observers coding the same 30 cases, these results were compared using the Kappa statistic.
The reliability of the LAHSAL system for intra- and inter-observer were excellent (0.809-0.992). The correspondence between Observer 1 and the original CLEFTSiS subphenotype was almost perfect (0.812-0.862) except the soft palate and the left alveolus, where agreement was substantial (0.638- 0.776). Intra-oral images were the most frequently deficient views with only 68 (9.3%) of the records fully demonstrating all six anatomical areas of the LAHSAL coding system.
Subphenotyping using the LAHSAL classification has a high degree of intra- and inter-observer reliability and is therefore appropriate for the epidemiological recording of subphenotype. The subphenotype data held on the CLEFTSiS EPR is accurate but incomplete. Only 9.3% of cases contained relevant pre-surgical photographs.
FIBREOPTIC CONFIRMATION OF PRE-FORMED ENDOTRACHEAL TUBE POSITION IN PAEDIATRIC CLEFT SURGERY – THE NEW GOLD STANDARD?
Dr Julia Neely, Dr Ashish Shetty, Dr Helen Smith (Department of Anaesthetics, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, United Kingdom)
Introduction and aims:
Oral south-facing pre-formed endotracheal tubes are used as standard practice in paediatric cleft surgery. Ring, Adair, Elwyn (R.A.E.) endotracheal tubes have been shown to have a 20% incidence of endobronchial intubation, and despite clinical assessment to the contrary, one fifth of paediatric patients will have malpositioned endotracheal tubes. To assess the accuracy of R.A.E. tube positioning, we designed a prospective observational study using fibreoptic assessment of tube placement.
Following study approval by the local Ethics Committee, 47 patients aged 2 to 42 months (median age 6 months) undergoing elective cleft surgery were included over a three-year period from August 2010 to July 2013. After induction of anaesthesia, the patient’s head was positioned for operation by the surgeon. Fibreoptic intubation was then performed using an uncuffed R.A.E. tube. The tube-tip position was measured from the mandibular alveolus to an accuracy of 1mm by a single Consultant Anaesthetist. If the tube was found to be malpositioned, it was moved to the optimal position under endoscopic guidance.
R.A.E. tube sizes ranged from 3.0 to 5.0; the modal size was 4.0 (30 patients). Tube-tip positioning was found from 13mm below to 40mm above the carina (range 53mm). In 22 patients (47%) the tubetip was found to be endobronchial, in 2 patients (4%) the tip was at the carina and in 10 patients (21%) the tip was 5mm or less above the carina. In 5 patients (11%) the tube tip was greater than 15mm above the carina. Thus, in 39 patients (83%) the original tube-tip position was potentially harmful. The lowest oxygen saturation observed was 75% in a single patient, and a total of 13 patients transiently desaturated below 92% immediately following intubation and measurement; all without complication. Accidental extubation occurred once during measurement. There were no other adverse events.
Discussion and conclusion:
Our study demonstrates an even higher incidence of endobronchial placement of R.A.E. tubes than previously shown (47% compared to 20%) ; it may be that the positioning of patients for cleft surgery increases this risk. The fact this type of surgery is lengthy and performed on very young children with little functional respiratory reserve, makes endobronchial intubation a highly significant event with potentially poor outcomes. Given the unpredictability of paediatric anatomy and the vast range of tube-tip positions demonstrated here, the use of the currently available R.A.E. tubes positioned with direct laryngoscopy cannot guarantee optimal tracheal placement. To overcome this and improve patient safety, we would recommend fibreoptic confirmation be used as the gold standard means of assessment of R.A.E. tube placement in paediatric cleft surgery.
 Black AE., Mackersie AM. “Accidental bronchial intubation with R.A.E. tubes”
Anaesthesia 1991; 46:42  Harris EA., et al. “Endotracheal tube malposition within the pediatric population: a common event despite clinical evidence of correct placement.” Can J Anesth. 2008;55:685
SYMNOSE: COMPUTER-AIDED ASSESSMENT OF AESTHETIC OUTCOME IN
UNILATERAL CLEFT LIP AND PALATE
Alexandra K Freeman (FY1 doctor)
Contributing authors: Nigel SG Mercer (Consultant Plastic Surgeon)
South West Cleft Unit, Frenchay Hospital, Bristol
Nasal asymmetry significantly influences aesthetic outcome in unilateral cleft lip and palate (UCLP).
The need for objective methods of assessing nasal asymmetry has been reported; the Symnose computer programme is a potential tool.
1. Determine whether the Symnose computer programme can differentiate between patients with UCLP and controls.
2. Assess the repeatability of Symnose measurements, in order to consider it’s use as a research tool.
Participants and Methods:
Facial photographs from 75 ten-year-old UCLP patients who underwent primary repair with (n=30) or without (n=45) concurrent nasal correction were assessed. A control group was also included (n=45).
The Symnose computer programme was used to calculate % nasal asymmetry for three parameters: front perimeter (FP), base perimeter (BP) and nostrils (N). Total asymmetry was also calculated. Coefficients of repeatability were then calculated for each parameter.
BP, N and total asymmetry were significantly greater in UCLP patients without nasal correction than controls and patients with correction (BP = 12.73% v 4.90% v 6.75%, N= 47.73% v 15.83% v 30.75%, total= 81.87% v 46.43% v 54.68%, p<0.001). FP asymmetry was significantly greater in controls than UCLP patients (22.87% v. 18.18% and 15.07%, p=0.001 and p=0.008). BP measurements have a higher degree of repeatability than FP and N (Coefficient of repeatability=5.99, 17.02 and 16.47, respectively).
Symnose is a simple methid of objectively measuring asymmetry in UCLP. The programme identified differences in nasal symmetry between UCLP patients treated by different surgical techniques from the basal view, but not from the frontal view. Improvements are required before it can be considered a useful research tool.
Computer aided assessment of UCLP patients may become a cost and time efficient way to routinely monitor outcomes. Further research into this area is required.
CORTICOTOMY FACILITATING ORTHODONTIC TREATMENT IN CLEFT LIP
PATIENT: CASE REPORT.
Nataly A. Borchenko, DDS, MSc
Odessa National Medical University, Department of Oral and Maxillofacial Surgery
Not all cleft lip and palate patients receive adequately timed orthodontic treatment. In cases that were not previously treated, orthodontist usually deals with severe orthodontic problems, often with certain limitations considering extractions. To facilitate teeth alignment, corticotomy is a possible option. Still, literature data concerning possible use of this method in cleft lip and palate patients is very restricted.
Materials and methods
In presented clinical case, 16-year-old male patient that previously underwent cleft lip repair, was referred to the clinic for orthodontic treatment. Examination of the occlusion revealed dentoalveolar Angle class I on the right and class II on the left, deep bite, severe crowding of upper and lower frontal segments with palatal tipping of upper incisors. Lateral cephalogram tracing and analysis revealed skeletal class II due to lower micrognathia. Residual bone defect in the cleft area was present between teeth #21 and #22.
Considering profile, extractions in the lower arch were not advisable. Treatment plan included extraction of #14 (as an alternative to distalization of #16 and #17), alignment of upper arch and initial correction of incisors` position, corticotomy of the lower jaw in selected sites to facilitate lower arch alignment, and leveling of the lower teeth, using 0.022” Roth ceramic braces (OrthoOrganisers, USA) without any additional appliances. Further treatment proceeded according to usual stages of orthodontic treatment utilizing straight wire technique.
Corticotomy greatly facilitated the process of leveling in the lower arch. In half a year, initial alignment of the lower arch was obtained without extractions and additional appliances. Analysis of dentoalveolar and skeletal changes following treatment stages is presented.
CONGENITAL SHORT SOFT PALATE IN NON CLEFT PALATE PATIENTS
Koskova Olga1,2, Vokurkova Jitka1,2, Fiala Martin1, Lukasova Darina.2, Hufova Iva2
1 Department of Pediatric Surgery, Orthopedics and Traumatology, Faculty Hospital Brno
2 Masaryk University Brno, Czech Republic
Short soft palate as a major cause of velopharyngeal insufficiency is a typical symptom in patient after cleft palate surgery. However there is a group of patient who have congenital short soft palate as a single diagnostic unit or in combination of other diagnosis as cleft lip, DiGeorge syndrome and others. The cause of short soft palate is pathological position of soft palate´s muscles which is a different diagnosis issue than submucous cleft palate. Although it is one of the least significant birth defects of soft palate it cannot be overcome by some children for whom surgery is the only option for achieving better speech results.
The patients who underwent short soft palate surgery between the years 2005 -2012 were included in the study and were divided into 3 groups based on associated diagnosis (cleft lip, genetic disorders, no other diagnosis). Clinical finding defined congenital short soft palate in all patients, in most of them velopharyngeal insufficiency was confirmed by nasoendoscopy. Delayed speech development or non progression in speech such as hypernasality or chronic secretory otitis was also found.
84 patients (29 woman and 57 men) were included in the study. The average age of patients was 6,1 years (range 2-13). 7,1% children had cleft lip, 21,4 % had genetic load (especially microdeletion syndromes), the others (71,5%) had no associated defects except for short soft palate. Regular soft palate massages were being done approximately for the period of 10,6 months after the surgery. This method lead to success in each patient according to the questionnaire filled in by parents.
Surgery of congenital short soft palate is recommended for all children with delayed speech development in conjunction with velopharyngeal insufficiency. Success rate of the surgery strictly depends on the following thorough speech therapy.
RECONSTRUCTION OF ALVEOLAR RIDGE OSSEOUS DEFECTS IN PATIENTS WITH
CLP BY USE OF ANORGANIC BOVINE BONE (Bio-Oss) AND COLLAGEN MEMBRANE
(Bio-Gide) – CASE SERIES
Pesic Z*, Janosevic M°, Radoicic J°, Janosevic P°
*Department of Maxillofacial Surgery, Medicine Faculty, University Nis, Serbia
° Department of Orthodontics, Medicine Faculty, University Nis, Serbia
The aim of this report is to see possibilities of use inorganic bovine bone and collagen membrane in reconstruction of alveolar ridge osseous defects present as consequence of cleft palate.
In four patients with defects of alveolar ridge which were consequence of CLP, of whom one had bilateral cleft, five times procedure of closing defect with inorganic bovine bone and collagen membrane was performed. Membrane was posted bilaterally (nasal and oral side) and defect was full field with inorganic bovine bone (Bio oss.) In three cases results were satisfactory, according to control ortopantomogrphics. In two cases dehiscence and loose of material was present. In one material was lost in total and in another one partially. Other three cases give satisfactory results for prosthetic reconstructions as well as satisfactory esthetic results. Combination of inorganic bovine bone and collagen membrane can be used for reconstruction of defects of alveolar ridge as consequence of cleft palate, but larger series and should be performed.
AN ATTEMPT TO ORGANISE A NETWORK FOR ORTHODONTIC TREATMENT OF CHILDREN WITH CLEFT LIP AND PALATE IN BULGARIA.
(1), M.Nencheva (2) Y. Anastassov (3), K. Gigov (4), R. Hater (5)
(1,3,4,5) Plastic and Craniofacial Unit , Medical University, Plovdiv, Bulgaria,
(2) Private Dental Clinic, Sliven, Bulgaria
Keyword: cleft lip, orthodontic treatment, network of orthodontists
In Bulgaria one in every 600-700 children is born with cleft lip and /or palate. About 90% of the cleft cases are operated in one center. In Bulgaria only the surgical aspect of treatment for clefts is reimbursed by the National Insurance company which means that most families never have the opportunity of receiving full multidisciplinary care for their child born with a cleft. The Bulgarian nongovernment organization- Association of patients with facial anomalies and their parents (ALA) and its partners support this project.
The aim of the review is to show the organization of a project for enhancing the orthodontic treatmentof the children with cleft lip and palate.
Since 2012 and for the next 2 years ALA offers to all families of children with clefts to take the opportunity and apply for financial support of orthodontic treatment for their children from 3 to 18 years. To take part in this project parents participate with an application form to ALA’s Board of Members every year, orthodontic file, written by the specialist of the team. The financial range of the project covers the support of 30 patients for orthodontic treatment every year. Criteria for patient selection are: treatment needs, the age of the child (after 4 years old), a good oral hygiene and the parent’s commitment to fully cooperate in the treatment and an agreement for the obligations of each side – the family and the parent organization). Records are kept in line with recommendations set by EUROCLEFT and are maintained in a patient file uploaded into a recently developed web based register – the National Database for Facial Anomalies.
We are hoping this project will help for the establishment of a national network of orthodontists. The success and failure rates during the project will be presented and discussed. Depending on the results we are planning to extend the project with more cases, creating a trusted network of orthodontists in the country.