Robin Sequence: The road to evidence based personalized ... · tongue-lip adhesion (TLA), mandibular distraction (MDO) and tracheotomy. Controversy exists in literature regarding

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Robin Sequence: The road to evidence based personalized treatment

Basart, H.

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Chapter 1

General introduction and thesis outline

“Will the right Robin Sequence patient rise please?” Definitions and criteria during management of Robin Sequence patients in the Netherlands and Belgium. (Adapted)

Hanneke Basart, Frea H. Kruisinga, Corstiaan C. Breugem, J. Peter W. Don Griot, Raoul C. Hennekam, Chantal M.A.M. van der Horst

Journal of Craniomaxillofacial Surgery, January 2015. Volume 43, Pages 92-96.

10 Part 1 | What is (not) Robin Sequence?

1Abstract

BackgroundRobin Sequence (RS) is characterized by micrognathia and upper airway obstruction (UAO) causing respiratory and feeding problems of varying severity, with or without the presence of a cleft palate. Management options are: prone/lateral positioning, nasopharyngeal airway (NPA), tongue-lip adhesion (TLA), mandibular distraction (MDO) and tracheotomy. Controversy exists in literature regarding RS definition and best management. Here we describe the definitions, management strategies and criteria in opting for a management strategy, used by the Dutch and Belgian cleft teams.

methodsA specifically designed questionnaire was sent to all 16 Dutch and Belgian cleft teams.

Results14 cleft teams returned 35 questionnaires. All used micrognathia as criterion in their definition, 93.4% cleft palate, 51.5% glossoptosis and 45.7% UAO. Six different definitions for RS were used; even within a single team >1 definition was used. All teams used different management strategies: all used prone positioning, 10 NPA, 6 TLA, 7 MDO, 8 tracheotomy, 2 referral of patients with invasive treatment indication. Variable criteria in opting management modalities were used: 89.3% used O2-saturation, 86.2% clinical presentation, 69.0% growth and feeding problems, 62.1% polysomnography. Also within a single team criteria differed.

conclusionThe Dutch and Belgian cleft teams do not use the same definition for RS nor the same management modalities. Criteria in choosing a management strategy differ significantly. A single, strict definition and evidence-based management guidelines are needed to enable future meta-analyses and provide optimal patient care.

Chapter 1 | General Introduction and Thesis Outline 11

1introduction

In 1923 Pierre Robin described a condition in newborns with micrognathia or retrognathia and glossoptosis, which caused respiratory insufficiency [Robin, 1923]. In 1934 he noticed the association of these symptoms with a cleft palate [Robin, 1934]. Since then many different defini-tions have been used to describe (Pierre) Robin Sequence (RS) [Breugem and Courtemanche, 2010;

Breugem and Mink van der Molen AB, 2009; Mackay, 2011]. Controversy exists in literature regarding the individual features of RS triad; the most widely accepted definition indicates micrognathia or retrognathia, glossoptosis, and respiratory insufficiency, with or without the presence of a cleft palate. RS has been reported to have a prevalence of 1/8.500-1/14.000 births [Breugem and

Courtemanche, 2010; Printzlau and Andersen, 2004; Paes et al., 2013].The combination of RS characteristics can lead to severe and longstanding health issues, initially mostly respiratory and feeding problems, later in life also to speech and social problems due to the altered anatomy. The first priority of treatment for RS addresses the airway. Without treatment, children with RS and significant airway obstruction may succumb to asphyxia, hypoxia, respiratory failure, cor pulmonale, malnutrition, and may lead sometimes even to death. The severity of these problems have not been linked to the severity of objective micrognathia measurements. We hypothesize that severity is dependent on the cause of RS. RS is seen in an isolated form or can be part of a syndrome [Izumi et al., 2012]. Various pathogenic hypotheses have been suggested. Main hypotheses are neuromuscular disorders, skeletal dysplasias / dysostoses and disturbed vascularization [Evans et al., 2011].There is significant variation in severity of the respiratory and feeding problems [Evans et al., 2011;

Sher, 1992] in RS patients. Many explanations for the respiratory problems have been suggested, including a tongue prolapse into the cleft palate and oropharynx, a relative macroglossia, a lack of voluntary control of the tongue due to muscular underdevelopment or immature tongue innervation, a narrowing of the oropharynx by collapse of the pharyngeal wall, and a pull of the tongue into the hypopharynx by negative pressure. It has been hypothesized that a mechanic restraint in utero may prevent the mandible to grow, causing a display of the tongue between the palatal shelves, which prevents their fusion [Mackay, 2011].Feeding problems are seen as prolonged feeding times, chocking or swallowing difficulties. These seem to be caused by the cleft palate, the lack of voluntary tongue movement control, or concomitant respiratory problems. Often nasogastric tube or gastrostomy feeding are needed to secure intake [Abel et al., 2012]. Gastro esophageal reflux is a frequently described problem in RS patients [Marques et al., 2009]. It is hypothesized that the upper airway obstruction and the extra respiratory effort needed for adequate ventilation, may lead to an increase in intra-abdominal pressure leading to a predisposition of infants with RS for gastro esophageal reflux. Motor dysfunction of the upper digestive tract was also shown in studies using manometry [Marques et

al., 2009; Baudon et al., 2002; Dudkiewicz et al., 1999].Numerous management schedules are used in RS children and each management modality has benefits and risks and careful selection is therefore essential [Abel et al., 2012]. Conservative management, i.e. prone or lateral positioning, where the tongue naturally moves anterior, is in


1

70% of the patients sufficient to solve airway and feeding difficulties [Meyer et al., 2008]. Continu-ous positive airway pressure (CPAP) and the placement of a nasopharyngeal airway (NPA) are non-invasive treatments, which can be used when position treatment and surgical interventions are insufficient. These treatments often do ask for long hospital admission and prolonged NG-feeding. A surgical treatment option is the tongue-lip adhesion (glossopexia; TLA), where the tongue is attached to the lower-lip with sutures and pulled forward, opening the upper airway. Although shorter hospital admission is preferred, TLA is associated with long-term feeding and speech difficulties. Another surgical treatment is the mandibular distraction osteogenesis (MDO), where the mandible is gradually lengthened with a distraction device following an osteotomy. MDO provides rapid solution, but potential adverse effects are the disruption of permanent teeth, dislodgement or failure of appliance, premature consolidation or mal-union, nerve injury, wound infection, and scarring; data from large studies analyzing outcomes have not been reported [Iatrou et al., 2010]. Usually tracheotomies are used in acute situations or when other treatments fail. Tracheostomies are associated with complications such as infections, scarring and have a higher mortality than the other treatments. MDO has also been suggested to be more effective compared to tracheostomy [Mobin et al., 2012].In the Netherlands and Belgium RS children with the same clinical characteristics who fail conservative treatment may be treated with NPA placement, or a TLA or an MDO or a tracheos-tomy. This initial surgery in RS patients to relieve airway and feeding problems, and also later the palatal closure, is in these countries performed by plastic surgeons. Maxillofacial surgeons usually perform subsequent surgery at later ages. Literature mentions benefits of mostly personally preferred treatments of the authors [Abel et al., 2012; Cicchetti et al., 2012; Bijnen et al.,

2009; Kirschner et al., 2003; Schaefer et al., 2004]. Others have advocated individualized management plans because of the significant heterogeneity in RS patients and large prospective trials were suggested [Mackay, 2011; Evans et al., 2011; Jarrahy, 2012].Since 1997, all infants born with clefts in the Netherlands are registered by one of the 14 Dutch multidisciplinary cleft, lip and palate (CLP) teams in the national oral cleft registry. Two Belgian teams started participating in 2008 and 2011, respectively. The 16 teams comprise 5 to 15 members, mostly consisting of a plastic surgeon, pediatrician, ENT surgeon and maxillofacial surgeon. A geneticist, orthodontist, dentist, dental hygienist, speech therapist and social worker can also be part of the team. The Dutch Association for Cleft Palate and Craniofacial Anomalies (NVSCA) maintains the register of all diagnoses since 2000. Between 2000 and 2010 246 newly diagnosed RS-patients were registered (24 RS patients / year), however this register might not be complete [Paes et al., 2013; Maarse et al., 2012].Here we describe our evaluation of the various ways physicians who are member in CLP teams and are involved in RS care in the Netherlands and Belgium define RS. We also looked at the treatment modalities and decision-making factors in choosing a specific treatment, and the consequences this has in a national or international evaluation of care.


1methods

All coordinators of the multidisciplinary CLP teams in the Netherlands and Belgium were contacted to forward a dedicated questionnaire, accompanied by an explanatory letter about the study, to each of the members of their team who is involved in decisions regarding management in RS infants. The questionnaire could be returned either digitally per email or as hard copy. A reminder was sent to non-responders. Data were inserted in and exported from a web based, open source Open Clinica database. Statistical analysis was performed using SPSS 19.0The questionnaire consisted of 16 multiple-choice questions, and was designed specifically for this goal (Supplement I). We reasoned it was not needed to validate the questionnaire as replies of the various cleft team physicians were compared to one another and no comparison with other data or general population were made: comparisons were therefore limited to compari-sons within the questionnaire. Questions were dealing with the specialty of the participant, the definition of RS the participant was using, preferred treatment options and the criteria used to select a treatment. In answering the participants could opt for objective measurements (such as saturation, growth, polysomnography, blood oxygen levels) and subjective findings (such as clinical presentation, personal experience).

Results

We received questionnaires from 14 teams (87.5%) and 35 members of CLP teams (44%; 10 Pediatricians (62.5%), 13 Plastic Surgeons (56.5%), 7 ENT Surgeons (33.4%), 3 Maxillofacial Surgeons (11.7%) and 2 “others”). Main general characteristics are summarized in Table I.Criteria used to define RS specified by specialism, are provided in Table II. Six different combina-tions of criteria leading to the diagnosis of RS are used. Various members inside one CLP team used four different definitions. Micrognathia is a criterion for diagnosing RS for all responders. A cleft palate (CP) is used as criterion in 94.2%, glossoptosis in 48.6% and upper airway obstruction (UAO) in 45.7%.In choosing from the various management options and changing from one option to another, 10 different diagnostic criteria, in 29 different combinations, are used by the 29 physicians in charge (Table III). Five centers refer their patients to another centre in case invasive treatment or admittance to a Neonatal Intensive Care Unit was needed. All CLP teams use prone or lateral positioning as first treatment. In deciding whether further actions were needed 62.1%, of the physicians who were in charge of the infant used clinical presentation as a criterion for this. SpO2 levels and growth/feeding problems were used by 45%, and blood gas analysis (O2, CO2, HCO3) levels and the apnea / hypopnea index by 20% (Table III). NPA is a treatment option in 8 of the responding centres (57.1%). SpO2 levels form the major criterion in deciding whether further actions are needed, both in using more invasive therapeutic options as in removing the NPA. TLA is performed by in 6 of the centers (42.8%). The main decisive criterion in perform-


1

ing a TLA is the clinical presentation of the infant. The main criteria to remove a TLA again are determined by growth, feeding, and polysomnography results. Seven centers (50%) use MDO as one of their treatment options, and again 7 centers perform a tracheostomy if necessary as last resort. Tracheostomy indications other than mentioned in Table III are persistent OSAS or insufficient growth, and expected long-term dependency (>3 months) of NPA.The criteria used to discharge a patient are adequate growth, adequate peripheral oxygen saturation and general physical presentation. Other factors of significance are the ability of the parents to recognize respiratory problems and subsequently act adequately (57.1%) and the ability of parents to provide extra care (positioning, monitoring) if needed (46.4%).

Table I: General Characteristics of Responders to the Robin Sequence Questionnaire.

categories n (35) Percentage

Specialty responder Paediatrics 11 31.4

Plastic Surgery 13 37.1

ENT Surgery 7 20.0

Maxillofacial Surgery 2 5.7

Other 2 5.7

Responsible clinician Paediatrics 17 48.6

Plastic Surgery 4 11.4

Plastic Surgery + Paediatrics 4 11.4

Plastic Surgery + Paediatrics +ENT Surgery 3 8.6

ENT Surgery 1 2.9

Other 6 17.2

Table II: Criteria for Diagnosing Robin Sequence by Various Medical Specialists (n=35) who were Member of a CLP Team in the Netherlands and Belgium

micrognathia + Palatos-

chisis

micrognathia + Palatoschi-

sis +Glos-soptosis

micrognathia + Glossop-

tosis

micrognathia + Palatoschi-

sis +UAo

micrognathia + Glossopto-

sis +UAo

micrognathia+ Palatoschisis+ Glossoptosis+

UAo

n % n % n % n % n % n %

Paediatrician (n=11) 3 27.3 4 36.4 1 9.1 1 9.1 0 0 2 18.2

Plastic Surgeon (n=13) 3 23.1 2 15.4 0 0 2 15.4 2 15.4 4 30.8

eNt Surgeon (n=7) 5 71.4 0 0 0 0 1 14.3 0 0 1 14.3

maxillofacial Surgeon (n=2)

1 50.0 0 0 0 0 1 50.0 0 0 0 0

other (n=2) 0 0 0 0 0 0 0 0 0 0 2 100

total (n=35) 12 34.3 6 17.1 1 2.9 5 14.3 2 5.7 9 25.7

% Within specialty. UAO: Upper Airway Obstruction.


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1discussion

The original definition proposed by Pierre Robin consisted of micrognathia, retrognathia and glossoptosis and did not include a cleft palate, and this has been seconded by others [Robin,

1923]. However, many of the presently interrogated clinicians consider a cleft palate an essential criterion next to micrognathia. The background of the responders as members of a CLP team may partially explain this. In the Netherlands and Belgium the same clinicians, especially plastic surgeons and paediatricians, are usually involved in the care of newborns with marked micro-gnathia and retrognathia and glossoptosis, without cleft palate, and undoubtedly the markedly similar presentation and course will be obvious to them. We recognize that in several other countries maxillofacial surgeons are involved in an earlier stage since they perform the initial surgery, such as MDO, which may influence response rate and outcome if the present study would be repeated elsewhere [Iatrou et al., 2010]. The presence of feeding or respiratory problems is considered essential by a minority of the responders. The present study demonstrates that the CLP teams in the Netherlands and Belgium use remarkably different criteria to define RS, and even within a single team criteria vary. There is no reason to assume similar differences will not exist between cleft team members in other countries. This may have considerable consequences for management strategies. It will also hamper comparisons between management schedules in such a significant way that reliable comparative studies on almost any aspect of management and care for RS patients are impossible. Uniform, objective and exact criteria for each of the components of RS, i.e. micrognathia, upper airway obstruction, glossoptosis, and cleft palate should be formulated.To measure and quantify the severity of micrognathia different measurements have been sug-gested, but those are often invasive, imprecise or time consuming. Assessments of cleft-related facial deformity have been performed using many tools such as 2D photographs, CT-scanning, Jaw-index measurement, including frontal and lateral views, direct anthropometry, cepha-lometry, 3D surface laser scanning, and midline measurements of the maxillary-mandibular discrepancy [Schaefer et al., 2004; Daskalogiannakis et al., 2001; Figueroa et al., 1991; Shimomatsu et al.,

2012; Suri et al., 2010; Bugaighis et al., 2012; Bugaighis et al., 2013]. To obtain an objective evaluation of jaw size and growth we have initiated a study in RS infants and children using3D facial scanning and dense surface models, which has been shown to be extraordinary successful to analyze 3D facial morphology in congenital abnormalities [Hammond et al., 2004; Hammond et al.,

2008; Hammond and Suttie, 2012; Hammond et al., 2012; Suttie et al., 2013]. The technique is objective, non-invasive, exact and fast and can be further studied to explore its usefulness in facial measurements in RS patients [Hammond et al., 2004; Hammond and Suttie, 2012; Gangopadhyay et al.,

2012; Krimmel et al., 2009].Polysomnography (PSG) is the gold standard in diagnosing respiratory distress, especially when severe comorbities, as seen in RS, are present. (Nederlandse Vereniging voor KNO-heelkunde en Heelkunde van het Hoofd-Halsgebied, 2013) The technique has become detailed, in part automated, precise and specialized in the diagnosing and differentiating central and obstructive airway obstruction. We have therefore also initiated prospective and repeated PSG studies in


1

RS infants and children and determine criteria and diagnose respiratory distress. Glossoptosis frequently contributes to UAO in RS [Shprintzen and Singer, 1992]. Glossoptosis may be visualized by intra-oral inspection but typically flexible fiberscopy performed by an ENT surgeon is needed. No reliable criteria exist to score the findings in such ENT studies. We have initiated a study in which retrospectively a large series of videotaped fibroscopic exams of RS infants are evaluated independently by a group of ENT surgeons using a fixed scoring system, in order to develop criteria for glossoptosis in fiberscopic exams. Still, fiberscopy can be difficult to perform in clinical practice, and the procedure itself may also alter the tongue position, cause tension in the patient and therefore make the diagnosis of glossoptosis less certain. Therefore we are probing whether other, likely radiographic modalities can offer a more reliable and sensitive manner to diagnose glossoptosis.In this study we demonstrate a remarkable difference in opinion amongst treating physicians in the Dutch and Belgian CLP teams with respect to diagnostic criteria, monitoring modalities, and criteria in choosing the various management options for RS patients. All management options are used, in different combinations. In monitoring patients and decisions regarding management frequently subjective criteria are used. No nationally or internationally accepted guidelines for managing RS patients have been developed [Jarrahy, 2012; Schaefer et al., 2004]. No (randomized) prospective or large retrospective studies comparing all available management schedules have been performed [Evans et al., 2011]. In this study, major decisions regarding management were, for a significant part, based on subjective criteria such as general physical presentation or personal experience of the physician in charge.Performing a study comparing the various management schedules cannot be performed until reliable objective criteria for each of the signs and symptoms of RS have been defined, and the diagnosis is based on the same set of criteria in each infant. Only then prospective studies comparing the various management modalities become possible, and will allow us to provide the best possible care to each individual RS patient. Therefore we advocate that first all efforts should be in the near future made to establish an internationally accepted definition for Robin sequence. Prospective studies with inclusion of only such strictly diagnosed patients and comparing the different treatment strategies, should be performed before evidence-based diagnostic, monitoring and management guidelines can be formulated and meta-analyses can be performed. Several studies to obtain this goal have been initiated by us.


1thesis aims and outline

The aims of the studies in this thesis were:1. Providing insight into currently used RS definitions and management schedules, incidence

and pathogenesis.2. Finding objective criteria for RS diagnosis by studying currently used diagnostics and

proposing new ways to objectify all RS criteria.3. Investigating treatment outcomes and discussing possible future studies to compare RS

management outcomes.To provide insight in currently used RS definition, diagnostic and treatment, we have performed a questionnaire study amongst members of the Dutch Association for Cleft Palate and Cranio-facial Anomalies (NVSCA), who usually provide RS-care (chapter 1). The association maintains a register since 2000 of all patients with clefts and craniofacial abnormalities and therefore also RS patients are included. In the second study (chapter 2) we investigated the prevalence of RS in the Netherlands and compared this outcome with earlier reported prevalence numbers in other countries by performing an extensive literature review.In chapter 3 we investigate the cause and underlying pathogenesis of RS and associated syndromes in a large Dutch cohort, as a first step in understanding the cause of RS and to help as guidance when selecting a treatment strategy. Our rationale for doing this is the hypothesis that the cause of RS influences the results of management, and that therefore the cause of RS should influence the choice of the management strategy. A case series of one rare syndrome (Fronto Metaphyseal Dysplasia), which had not been associated with RS in the past is described in chapter 4 and serves as an example for the RS accompanying syndromes.To develop evidence-based management guidelines for future RS patients based on etiology and simple objective parameters for respiration and morphology (“personalized medicine”), we have to ensure ourselves first that only a single strict definition, using objective criteria, is used for all RS patients. We have initiated different studies to investigate possible diagnostic tools to objectively measure RS characteristics. In chapter 5 a pilot study shows a manner to objectively diagnose micrognathia, measure its severity and growth and find the difference in facial morphology between RS patients and healthy controls using 3D facial scanning. Flexible Fiberoptic Laryngoscopy, the current golden standard to diagnose the RS characteristic glossoptosis is studied for reliability in chapter 6.To learn more about patient reported outcome measures (in terms of: the quality of life, parental distress, satisfaction with appearances and RS specific subjects) as indicated by patients and their parents in RS patients, a large web-based questionnaire study was performed. A comparison between the Dutch Norm population and RS patients, isolated and syndromic RS patients and the different offered treatment is made in the study described in chapter 7. The General Discussion of our findings is presented in chapter 8. This chapter also provides a perspective for future research.


1

AcknowledgmentsWe are pleased to thank all cleft team coordinators and the members of the teams for participat-ing in the study.


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Robin Sequence: The road to evidence based personalized ... · tongue-lip adhesion (TLA), mandibular distraction (MDO) and tracheotomy. Controversy exists in literature regarding