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 Table of Contents  
Year : 2017  |  Volume : 4  |  Issue : 3  |  Page : 10-15

Quality of care in Robin sequence

1 Department of Plastic and Reconstructive Surgery, Division of Plastic and Reconstructive Surgery, Utrecht, The Netherlands
2 Department of Pediatrics, University Medical Centre Utrecht, Wilhelmina Children's Hospital, Utrecht, The Netherlands

Date of Web Publication21-Nov-2017

Correspondence Address:
Corstiaan C Breugem
Department of Plastic and Reconstructive Surgery, Division of Plastic and Reconstructive Surgery, University Medical Centre Utrecht, Wilhelmina Children's Hospital, P. O. Box: 85090, 3508 AB Utrecht
The Netherlands
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jclpca.jclpca_71_17

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Robin sequence is a heterogenous phenomenon with high morbidity and even mortality. The sequence is often associated with other anomalies, however it is of utmost importance to adequatly treat the upper airway obstruction. In a time where value of health care is judged by objective outcome measures, Robin sequence is in need to have these outcome measures better defined. This manuscript will summarize some important aspects that could help us to determine objective outcomes to measure treatment success.

Keywords: Cleft palate, Robin sequence, upper airway obstruction

How to cite this article:
Breugem CC, Haasnoot M. Quality of care in Robin sequence. J Cleft Lip Palate Craniofac Anomal 2017;4, Suppl S1:10-5

How to cite this URL:
Breugem CC, Haasnoot M. Quality of care in Robin sequence. J Cleft Lip Palate Craniofac Anomal [serial online] 2017 [cited 2022 Jan 27];4, Suppl S1:10-5. Available from: https://www.jclpca.org/text.asp?2017/4/3/10/218888

  Introduction Top

The triad of micrognathia, glossoptosis, and concomitant neonatal airway obstruction was first described by St-Hilaire and Buchbinder in 1822, by Fairbairn in 1846, and by Shukowsky in 1911.[1],[2],[3] The subsequent description in 1923 by Pierre Robin a French Stomatologist led to the eponymous definition of the condition.[4] In the current literature, the disorder is most commonly described as “Robin sequence” (RS).[5],[6] Recently, an international consensus was achieved regarding the three distinguishing characteristics (micrognathia, glossoptosis, and upper airway obstruction) that should be included in the diagnosis of RS in newborns. Cleft palate is encountered frequently but is not considered a prerequisite for the diagnosis.[7] RS has an incidence of 1 in 5600–14,000 newborns,[8],[9],[10] and the majority of cases may be associated with a syndrome, a chromosomal abnormality, or other additional anomalies but may also occur as an isolated entity.[5],[10],[11],[12],[13]

Symptoms of RS include varying degrees of upper airway obstruction and feeding problems, possibly leading to subsequent life-threatening respiratory and cardiac sequelae and failure to thrive when not adequately treated.[13],[14] Mortality rates of 1%–26% have been described.[14],[15],[16] Recently, we have identified a mortality rate of 11% in 103 consecutive RS patients.[17] Numerous treatment options have been developed and vary according to severity. Conservative interventions such as prone- or side-positioning techniques or placement of a nasopharyngeal airway or pre-epiglottic baton are primarily applied.[18],[19],[20] However, if these are unsuccessful, surgical management such as tongue-lip-adhesion (TLA), mandibular distraction, or tracheostomy may be considered.[16]

The complex consequences of the RS glossopalatognathic malformations require a team of specialists to remedy the impaired airway and orognathic malfunction. This team of specialists might include molecular biologists, geneticists, embryologists, plastic surgeons, pediatricians, otolaryngologists, maxillofacial surgeons, dentists, orthodontists, and speech pathologists.

  What is Good Quality of Care? Top

The purpose of providing good quality of care is to provide health services that increase the likelihood of desired health outcomes and are consistent with the current professional approaches.[21] Moreover, the goal is to decrease variation in practice patterns, improve health outcomes, and to provide a common language for dialog among patients, healthcare providers, administrators, and policymakers.

Measurement is the first step to improve quality. Donabedian has laid the way for a framework for quality assessment. His foundation is a critical part of most quality of care research methods used today.[22] To describe the effects of healthcare on outcomes, Donabedian made a model that divides aspects of healthcare quality into (a) structure, (b) process, and (c) outcome [Figure 1].[23] An example for cardiac anomalies is provided in [Figure 1].[24]
Figure 1: Building quality indicators to improve quality of care for adults with congenital heart disease

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The management of health institutions must be able to make decisions on what to do and what not to do and to decide about reimbursement policies, negotiations on the value delivered to patients, as well as the costs and risk management of the organization. Chief Executive Officers of hospitals embarking on value-based health care initiatives have reported difficulties in lacking adequate information while being flooded with data on processes, structural data,[24] “quality, morbidity data,” scorecards, confusing costs and tariffs (DBC schemes “Diagnose Behandel Combinatie” Diagnostic treatment combinations), capital expenditures, detailed clinical research outcomes, annual reporting data, etc.

Payers, as in medical insurance companies, patients, or governments, need to decide: when to receive treatment or not, at which place based on their medical condition (s), and at what likely outcomes, costs, and risks. It is well known that no patient exactly fits a specific protocol and no patient is 100% unique. From this medical perspective, it is challenging to search for the correct diagnosis and right treatment.[23]

  Centered on Patients and Excellence Top

However, when we take all these perspectives into account, it is imperative to remember that “patient value” must be central. A focus on patient value is needed when making responsible decisions by decision-makers and clinical management, within the health system and hospitals. More precisely, patient value is patient relevant medical outcome divided by cost.

When confronted with RS, physicians, clinical management, nurses, and other (para) medical teams should contemplate their (non) interventions across the whole RS medical condition with the patient outcome and costs.[25]

  An Accurate Diagnosis? Top

Before an adequate measurement of care given to patients with RS is made, a universally accepted way of defining this phenomenon is critical. Since it is well known that the RS is not only pathogenetically heterogeneous but also phenotypically heterogeneous, this is often more difficult than it appears. Previous studies have demonstrated that analyzing the literature and performing questionnaire analysis to several national Cleft Palate Associations, numerous (>15) different diagnosis were demonstrated.[5],[6],[7] This clearly demonstrated the confusion with regard to the nosology of this heterogeneous condition.

Without a common definition, no outcome comparison is possible. Recently, an international consensus was achieved regarding the three distinguishing characteristics (micrognathia, glossoptosis, and upper airway obstruction) that should be included in the diagnosis of RS in newborns. Cleft palate is encountered frequently but is not considered a prerequisite for the diagnosis.[7] This meeting also identified several difficult questions that need answering in the future:

  • Assessment of micrognathia
  • Assessments of glossoptosis
  • Assessments of airway obstruction
  • Assessment of feeding problems
  • Assessment of cleft palate
  • Etiological diagnostics.

Porter has identified several concepts about quality of care in a landmark paper in 2010.[25] Overtreatment, undertreatment, overdiagnosis, underdiagnosis, uncontrolled costs and budgets, medical treatment errors, and wrongly placed incentives have been reported numerously across health systems in the developed world and are also applicable to RS. This is also because healthcare stakeholders often have conflicting goals, including access to services, profitability, cost containment, convenience, and patient-centeredness.[23],[25] Achieving high value for patients must become the overarching goal of health care delivery, with value defined as the health outcome achieved per Euro (Dollar) spent.[25] If value improves, payers of the health system, providers, suppliers, and most importantly the patients can all benefit from the economic sustainably of the health care system improves.

Porter suggests that rigorous, disciplined measurement and improvement of value are the best way to drive system progress. However, value should always be centered around the patient and should subsequently always be measured by the outcomes achieved and not by the volume of services delivered or by the process of care used.[25] Since value [Figure 2] is defined as outcome relative to costs, cost reduction without regard to the outcomes achieved is self-defeating and even dangerous.
Figure 2: Value of care is determined by outcome and costs

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When determining the group of relevant outcomes to measure in RS, it should include both short-term and long-term health factors. Porter also states that the complexity of medicine means that competing outcomes (e.g., short-term safety versus long-term functionality) must often be weighed against each other.

  Survival Top

As mentioned earlier, a recent study in Utrecht of 103 consecutive RS infants identified 11 patients who died at a median age of 0.8 years (0.1–5.9 years range). Most patients (n = 7) died of respiratory insufficiency clearly indicating the importance of continued analysis of the respiratory system. However, since RS is such a heterogeneous group, the survival rates differ largely per study and before patients are not analyzed primarily in a similar way and grouped in comparable groups, it will be difficult to identify risk factors. Van Lieshout et al. recently indicated that between the age of 1 and 18 years, almost one out of four RS infants still has respiratory problems.[26] In addition, RS infants who need respiratory support early after birth are at risk of continuing or re-developing obstructive sleep apnea after the age of 1 year.[26] Of the deceased patients of the Utrecht group, nine infants had syndromic RS, while in the other 2 patients, the parents refused analyses. Seventeen infants (41%) had associated cardiac anomalies and 15 infants (36%) had neurological anomalies. RS infants with cardiac anomalies showed an increased mortality compared to those without or unknown cardiac anomaly of 24% versus 8% (P = 0.081). In RS infants with a diagnosed neurological anomaly, significant mortality rates were seen of 40% versus 6% (P = 0.001).

This study does suggest that a comprehensive analysis of neurological and cardiac anomalies and genetic testing is crucial in identifying high-risk RS infants. In addition, a better continuous follow-up of airway management in syndromic RS infants might decrease mortality rate in RS.

  Morbidity in Robin Sequence Top

We have identified four groups that need special attention as follows.

  1. After birth
  2. Age 1–9 years
  3. Age 10–20 years
  4. Adult patients.

After birth

There are several ways to treat the upper airway obstruction in RS after birth. Although the actual definition has been defined,[7] there are still several questions when confronted with a baby after birth. Characterizing and objectively measuring the breathing problem is crucial and still needs more consensus. Other important questions include the objective assessment of the micrognathia, glossoptosis, feeding problems, and etiological diagnostics, mandatory for diagnosis. Some of these aspects have been discussed in a previous manuscript.[7] Most patients can be treated with positional change; however, several nonoperative and operative options are available. All have benefits and disadvantages and could differ per health locations depending on the actual medical services and experiences available.

A recent review performed by Almajed et al. analyzing the assessment of surgical interventions in RS identified that we have little objective data of polysomnography (PSG) studies before and after surgery.[27] There is no standardized use of the PSG and no consistent use of criteria (e.g. apnea/hypopnea index [AHI], obstructive AHI, etc.). For mandibular distraction osteogenesis (MDO), there were 29 studies with objective outcome measurement, of which 18 had PSG and seven detailed PSG studies. For TLA, there were 11 studies with objective outcomes studies and three with PSG analysis. This review clearly indicates that more studies are mandatory. The studies with MDO indicated that 8% had an AHI >10 after MDO, while this was 47% for the TLA group. Further comparing the nonsurgical interventions (e.g., nasopharyngeal airway or pre-epiglottic plate) indicates that we have little objective studies describing the outcomes. Abel et al. have described 104 patients treated with RS.[28] Of these patients 64 were treated with nonprescription analgesia (10% >12 months), while 30% were described as moderate upper airway obstruction (PSG with set of three clusters desaturations at least three dips below 85%). Buchenau described an orthodontic plate indicating a huge change in the mean apnea index,[20] while studies from Paris also indicate that continuous positive airway pressure could be a good method to treat the upper airway obstruction in RS.[29]

Few studies have looked at financial aspects of interventions. Paes et al. in 2013[30] identified that tracheostomy is 3 times more expensive than MDO when analyzed during the first 12 months of life. This European study is comparable to studies performed in the USA.[31] They demonstrated that tracheostomy is 2.6 times more expensive during the first 36 months of life and 7 times more expensive when home-related costs are included.

The experiences of the parents (quality of life [QOL]) is also of importance when analyzing outcome of different treatment options. Hong et al. demonstrated that when using the Glasgow Children's Benefit Inventory (GCBI) questionnaire in a group of patients that received mandibular distraction that parents indicated an overall benefit in health-related QOL (HRQoL) in our study population.[32] In a subsequent study from Logjes et al., a group of patients that received a TLA were compared to a group of patients that received an MDO.[33] Again, the GCBI was used. The median total GCBI-score post-MDO versus post-TLA was 22.9 (10.4 interquartile range [IQR]) versus 26.0 (37.5 IQR) (P = 0.780), respectively, indicating an overall benefit in HRQoL from both surgical procedures. Positive change was observed in all subgroups (emotion, physical health, learning, and vitality) both post-MDO and post-TLA. In syndromic RS infants, both surgical procedures demonstrated a lower positive change in HRQoL compared to the isolated RS infants (19.8 MDO and 16.7 TLA versus 25.0 MDO and 35.4 TLA, P = 0.268).

Upper airway obstruction could also result in failure-to-thrive and subsequent feeding problems. Paes et al. have compared RS patients with a cleft palate to patients an isolated cleft palate.[34] Nasogastric tube placement was found in 80% of Robin children and in 19% of isolated RS children. Moreover, growth and weight were less at age of 2 years in the RS subgroup. Growth was lower in RS than isolated cleft palate only infants (P = 0.008) and was not affected by the kind of airway management (conservative/surgical; P = 0.178), cleft palate grade (P = 0.308), or associated disorders (P = 0.785). By contrast, surgical intervention subtype did significantly affect growth. Mean reported FD for RS in the literature is 80% (range = 47%–100%), and 55% (range = 11-100%) of infants need nasogastric tube feeding.

Many patients have a cleft palate with the possible middle ear and feeding problems.

Numerous patients[10],[11],[12],[13],[14] have concomitant other malformations. These could for example be neurological, heart of eye malformations and could obviously influence the care and QOL of these patients.

Age 1–9 years

There is little information about the cognitive development of children with RS. Since we have little objective information of the subgroup treated with positional change, we do not know what the influence of possible oxygen deprivation to the brain has been.

Two studies by Drescher et al.[35] and Thouvenin et al.[36] could not identify severe cognitive problems although only subgroups (nonsyndromic/isolated RS) or patients with Stickler syndrome were included.

Speech and language analysis by the cleft palate team will also include possible fistula formation after cleft palate closure. Subsequently, secondary speech improving surgery needs special attention. It is still unclear if patients with RS and cleft palate have worse speech outcomes than isolated cleft palate patients. Patients with a cleft palate often have hearing problems. Analysis of hearing, middle ear tube placement, and other middle ear problems encountered during cleft palate needs attention.

It is a well-known that micrognathia is often associated with hypodontia.[37] Obviously, this could have an effect in severe cases, but treatment is not initiated at this stage. Orthodontic treatment is often commenced at this stage.

Age 10–20 years

Again speech and language disorders, associated with middle ear problems, need special attention. Mandibular (and maxillary) outgrowth needs analysis. In some severe cases (e.g., Treacher–Collins or  Nager syndrome More Detailss), where the upper airway obstruction was initially treated with a tracheotomy, they could be treated with mandibular distraction. Many patients need special orthodontic treatment.

Adult life

Definitive analysis of teeth (prosthesis/implants) and analysis of mandibular and maxillary outgrowth need attention.

In RS, there is no single outcome that captures the results of care (besides mortality). When analyzing the costs, all costs during the patients' treatment and subsequently full cycle of care should be included. Many care activities are interdependent and the only way to accurately analyze value is to track patient outcomes and costs longitudinally. Since RS outcome is determined by the actual cause, a mutual approach with defining the condition is critical. Basart et al. for instance have identified that re-evaluating Robin patients will change the diagnosis in >25% of patients.[13] It is clear that patients with RS with an associated Stickler syndrome will have a different outcome than RS associated with 22q11 deletion syndrome. It is imperative that value should be measured for each condition with the presence of other conditions used as risk adjustment.[25] Porter also suggests that this approach allows for relevant comparisons among patients results but will also include comparison of providers ability to care for patients with complex conditions.

It is important to realize that there is no substitute for measuring actual outcomes, but the main purpose is to enable innovations in health care and not comparing health care providers.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

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