Cranio-facial morphology and obstructive sleep apnea: the ... · Cranio-facial morphology and...

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Cranio-facial morphology and obstructive sleep apnea: the role of dento-facial orthopedics Julia COHEN-LE ´ VY, Philippe CONTENCIN, Vincent COULOIGNER ABSTRACT Orthodontists, thanks to their keen appreciation of facial morphology and their skills in making functional examinations, are ideally placed to detect breathing problems in their patients that can require an ENT assessment, with special attention paid to the evaluation of sleep patterns. After a site of obstruction, resulting from a soft tissue anomaly and/or a narrowing of the airway passage through bone, has been established, orthodontists may be called upon to undertake corrective treatment sometimes in conjunction with a surgical procedure. KEYWORDS Obstructive sleep apnea syndrome Child Craniofacial growth Adeno-tonsillar hypertrophy Oral appliance. Address for correspondence: J. COHEN-LE ´ VY, 255, rue Saint-Honore ´, 75001 Paris. DOI: 10.1051/odfen/2009035 J Dentofacial Anom Orthod 2009;12:108-120 Ó RODF / EDP Sciences 108 Article available at http://www.jdao-journal.org or http://dx.doi.org/10.1051/odfen/2009035

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Cranio-facial morphologyand obstructive sleep apnea:the role of dento-facialorthopedics

Julia COHEN-LEVY, Philippe CONTENCIN,

Vincent COULOIGNER

ABSTRACT

Orthodontists, thanks to their keen appreciation of facial morphology and theirskills in making functional examinations, are ideally placed to detect breathingproblems in their patients that can require an ENT assessment, with specialattention paid to the evaluation of sleep patterns. After a site of obstruction,resulting from a soft tissue anomaly and/or a narrowing of the airway passagethrough bone, has been established, orthodontists may be called upon toundertake corrective treatment sometimes in conjunction with a surgicalprocedure.

KEYWORDS

Obstructive sleep apnea syndrome

Child

Craniofacial growth

Adeno-tonsillar hypertrophy

Oral appliance.

Address for correspondence:

J. COHEN-LEVY,255, rue Saint-Honore,75001 Paris.

DOI: 10.1051/odfen/2009035 J Dentofacial Anom Orthod 2009;12:108-120� RODF / EDP Sciences

108

Article available at http://www.jdao-journal.org or http://dx.doi.org/10.1051/odfen/2009035

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1 - INTRODUCTION

Various estimates ranging from3.2% to 30% have been presentedof the extent of habitual snoring in thechild population and on the 0.7% to10.3% who suffer from obstructivesleep apnea syndrome (OSAS), asdefined by the recurrence of completeobstruction (apnea) or partial obstruc-tion (hypopnea) of the upper airwaysduring sleep1,14,19.

This pediatric form of OSAS, whichcan affect newborns as well as ado-lescents, has a patho-physiology thatdiffers from the adult variety, and isparticularly hard to detect11,27. While itis true that only a polysomnographrecording can indisputably establishthe diagnosis of sleep apnea, thepaucity of sleep laboratory servicesmake this tool available to just a smallpercentage of possible patients. Inaddition, the symptoms of OSAS arevariable, not widely known, and de-pend on the child’s stage of growthand development. (the reader maywant to refer to the article on ‘‘Howto detect OSAS’’ in this issue).

The primary cause of OSAS is ananatomical narrowing of the upperairways affecting both the soft tissuesand cranio-facial structures. Defects inlocal neuro-muscular control, withaccompanying loss of tone of the

dilating muscles of the pharynx, canalso play a role in causing OSAS orintensifying the effects of the mor-phological anomalies in some cases.

These interrelationships betweencranio-facial anatomy and OSAS havefrequently been described in adults,but only recently have investigatorstaken a lively interest in its occurrencein children, with some emphasis beingplaced on the role orthodontists canplay as members of the inter-disciplin-ary medical research teams studyingthis ailment.

Collaboration between specialties isnot limited to research and diagnosis,but continues in the application of thetherapeutic sequence with orthodon-tic appliances like rapid palatal expan-sion and mandibular advancementoften being indicated in early treat-ment procedures.

We illustrate this article, which re-views contributions published in pe-diatric OSAS literature on cranio-facialmorphology, with clinical cases trea-ted by a team of an ear, nose andthroat (ENT) surgeon, a physicianspecializing in sleep disorders, andan orthodontist. We then discuss thecurrent protocols for the treatment ofOSAS, focusing on the participation ofspecialists in dento-facial orthopedics.

2 - CRANIO-FACIAL ABNORMALITIES AND RISK FACTORS IN OSAS

2 - 1 - Non-syndromic cranio-facial abnormalities

In addition to the pathological dis-turbances that create a thickening of

the mucosa of the upper airways(such as mucopolysaccharidosis, thePrader Willi syndrome, and obesitywith fatty infiltration of the pharyngealwalls, can reduce the diameter of the

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ventilatory pathway), examiners mayalso detect certain anatomic obstaclesin an ENT examination.

2 -1 -1 - Nasalfossae and the rhinopharynx

– choanal stenosis or atresia;– nasal septum anomalies like sco-

liosis, hypertrophy of the inferior turbi-nates;

– hypertrophy of adenoidal softtissue;

– pharyngeal tumor.

2 - 1 - 2 - Oral cavity, oropharynxand hypopharynx

– hypertrophy of the palatal andlingual tonsils;

– cranio-facial anomalies, with med-iofacial hypoplasia, small or retrudedmandible, which force the tongue tointrude on the oropharynx13;

– true macroglossia (arterio-veinousor lymphatic malformation, von Reck-linghausen neurofibromatosis ...).

For the majority of children whosuffer from the OSAS syndrome, theprincipal etiological factor is hypertro-phy of lymphoid tissue, which can betreated effectively with tonsillectomyor removal of adenoid tissue18. How-ever, Guilleminault et al.10, who re-viewed the records of 400 childrenwhose tonsils and adenoids had beenremoved, have found that in 14.5% ofthese cases (case 1) problems withbreathing during sleep persisted. Inthis study the patients who were "non-responders" to surgery had narrowpharyngeal spaces, an under-devel-oped maxilla, and/or a retruded mand-ible.

This same group described a facialphenotype of children who were atincreased risk of obstructive sleepbreathing difficulties, that comprised34% of the patients with apnea. Someof the characteristics of this group werea retruded mandible, a hyper-diver-gence of the mandible with an increasein the cranio-mandibular, intermaxillary,and gonial angles; an elongated face;and a deep hard palate and a long softpalate (case 2). These results wereconfirmed by other authors2,28: whileRees et al.26 emphasized, instead, theassociation with micrognathia and ret-rognathia. Kawashima et al.17 affirmedthat apnea patients with heavily en-larged tonsillar tissues had, in compar-ison to control groups, more retrudedmandibles and a greater increase inlower facial height.

The malocclusions most frequentlydescribed in association with OSAS areunilateral or bilateral cross bites, openbites with a low tongue position and aposterior rotation of the mandible7,32.One recent study25, comparing a groupof children who snored infrequently to agroup of children suffering from OSAS,found significant differences betweenthe two: children with sleep apnea hadgreater incisal overjet and less overbite,narrower upper arches, and shorterlower arches than children in the con-trol group.

2 - 2 - Syndromic abnormalities

Some of the cranio-facial malforma-tions that occur in the apnea syndromepredispose afflicted children to a col-lapse of the upper airways often mak-ing early treatment essential15. Insevere cases, children only a few daysold must be operated on immediately

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or helped to breathe with mechanicaldevices.

2 - 2 - 1- Syndromes involving themaxilla

The Crouzon, Apert, Pfeiffer andSaethre-Chotzen syndromes (acro-ce-

phalo-syndactyl types 1, 5 and 3,respectively) are characterized by earlycalcification of the cranial sutures thatcauses hypoplasia of the that causehypoplasia of the mid-face. In thesecases, the facial skeletal appears todemonstrate mandibular prognathism

This 8 year-old boy, had persistent OSAS symptomsdespite already having had an adeno-tonsillectomy.

a: on the lateral cephalogram, a nasal septum deviation can be seen together with asymmetry of the base of the nasalfossae.b: on the lateral cephalogram, a decrease in the size of the respiratory pathway seems to be localized behind thetongue, where there is hypertrophy of the lingual tonsillar tissues, or a retro-positioning of the tongue. This patientseems to have a Class III tendency which would make mandibular advancement inadvisable.c and d: on intra-oral examination, the palate was seen to be narrow and highly arched, with abnormal transverserelationships, an anterior infraclusion with insufficient space for the eruption of the upper lateral incisors.e: the appearance of the boy’s face was consistent with mouth breathing and a rounded lips apart posture at rest. Inorder to attempt to reduce the residual IAH, a turbinectomy, ablation of the lower nasal turbinate, and rapid palatalexpansion were planned.

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because of the collapse of the naso-maxillary complex and the develop-ment of a Class III malocclusion. If thedefects of these children are treatedearly with neuro-surgery to eliminate

the intra-cranial hypertension asso-ciated with sutural calcification, it isprobable that OSAS would be furtherunder-estimated, suspected as it is in50% of the subjects15,24.

Cranio-facial morphology in the OSAS "type"a and b: This patient, an 8 year-old boy, suffered from attention deficit disorder, hyperactivity, and agitated sleep withconstant snoring interrupted by pauses in breathing. In addition to his long face with rings under his eyes, lip closurewas strained, his profile retrusive and reflective of a hyper-divergent typology (Delaire’s architectural analysiscomputerized by means of the Tridim� program);c to e: the intra-oral examination showed a deep, high arch palate, with bilateral cross bite, anterior infraclusion, and aClass II tendency.

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In trisomy 21 (Downs syndrome)early calcification of the spheno-occi-pital suture, hypoplasia of the mid-face(reduction of palatal length and width),and a diminishing of the cranial baseare all found. Relative macroglossiaassociated with the syndrome which

constitutes an additional risk factor forOSAS9, affects half of these patients6.

Children afflicted with achondropla-sia, inherited through autosomaldominance, suffer from dwarfism,under-development of the maxillaand the mandible, as well as from

a and b: this 4 year-old boy, afflicted with achondroplasia, also had persistent OSAS symptoms despite previousadeno-tonsillectomy. Visual examination showed facial retrusion, with caved-in nasal appearance, accentuated byhydrocephaly;c and d: intra-oral examination revealed a Class II malocclusion with uni-lateral cross bite associated with symmetricalmaxillary insufficiency with lateral deviation.

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functional aberrations that favor ob-structive sleep disturbance15,22. In thecase shown in figure 3, the three year-old patient, came in for consultationbecause of persistence of OSASproblems even though excess tonsillartissue had already been removed. Onexamination we noted that his facedisplayed the typical characteristics ofthe syndrome, a deep sinking in of thebulk of the middle face, associatedwith hydrocephaly that had beentreated by tapping of the cephalora-chidian fluids (case 3).

2 - 2 - 2- Syndrome involvingthe mandible

Characteristics of Robin’s syndromeare symmetrical under-developmentof the mandible (that diminishes theheight of the rami and the length ofthe body and affects the orientation ofthe condyles), associated with a pala-tal cleft and glossoptosis that severely

obstructs breathing capacity begin-ning at birth. In the Nager syndromeand in the Franceschetti or Treacher-Collins syndrome the principal defectsare maxillo-facial dystosis and under-development of the mandibular ramiand condyles, the net result being anincrease in facial height that promotesoropharyngeal blockage15.

While changes in position can beeffective in preventing backward tilt-ing of the tongue, in half the cases theobstruction has to be dealt withmechanically or surgically with intuba-tion, tracheotomy, surgical osteo-dis-traction of the mandible, or a surgicalglossopexy that produces a temporaryadhesion of the mucosal tissues ofthe tongue to the lower lip8. Sometreatment teams used intra-oral appli-ances, based on the monobloc thatPierre Robin introduced, to unblockthe pharynx mechanically as themandible is propelled forward4.

3 – INTERRELATIONSHIP BETWEEN OSAS TREATMENT AND CRANIO-FACIALGROWTH

3 - 1 - Continuous PositiveAirway Pressure (CPAP)

Continuous Positive Airway Pres-sure is a non-invasive but effectivemeans of treating OSAS that employsa nasal mask through which a com-pressor delivers a positive pressurethat keeps the airways open no matterwhat sleeping posture the childassumes. The device whose nasalface mask is supported by head strapsis cumbersome to wear and somepatients, supported by their parents,find it difficult to wear. These non-

compliant patients seldom use thedevice and end up by abandoning it19.

So the continuous airway pressuresystem is usually reserved for patientswith severe sleep apnea, those whoare grossly obese, have anomalousneuro-muscular tone, are waiting forsurgery, or for whom tonsillectomy oradenoidectomy has failed to relievethe problem.

Most children with sleep apnea donot require long term CPAP treatmentso its effects on maxillary develop-ment are, in theory, limited but they

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are, nevertheless, not always entirelyinconsequential. Analyses of clinicalcases have shown that prolongedapplication of CPAP forces on thefacial skeletal tends to promote thedevelopment of Class III malocclu-sions, especially in children who arepredisposed to them (case 4). Theauthors believe that a maxillo-facialevaluation of patients at risk is anecessity and might show the needfor the use of a Delaire mask, adjustedto the assemblage of the CPAP to

counterbalance the incipient deforma-tion16.

3 - 2 - Tonsillectomy,adenoidectomy

A recently conducted systematicreview with meta-analysis (Bonucket al.3, 2009) endeavored to determinethe effect of a combination of tonsil-lectomy and adenoidectomy ongrowth and its bio-markers. OSAS

Familial predisposition to Class III protrusion and development of anterior cross bite after wearing a VPPC mask.a and b: Karla 5 years old;c and d: her mother.

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and other sleep respiratory disorderscan produce retardation or a break ingrowth rates by interfering with nor-mal nocturnal secretion of the soma-totropic hormone, the GH or growthhormone.

After surgery, a significant increasein the serum levels of molecular GHmediators has been noted, the insulin-like growth factor I (IGF I) and IGFBP-3(binding protein), along with an in-crease in height and weight, some-times sufficient, in a "catch-up" effect,to restore the patient to normal bodygrowth.

One team devoted itself to studyingthe repercussion of OSAS on cranio-facial growth31, by comparing over afive year period the morphology of agroup of children with sleep apnea,treated with tonsillectomy and adenoi-dectomy, to a control group of childrenwith no breathing problems. Beforetreatment, at an average age of 5.5years, they found significant differ-ences between the apnea patientsand the control group, as revealed bycephalometric analyses. The apneapatients had mandibles that weremore inclined posteriorly and maxillaethat were more tilted anteriorly. Theyhad an increase in anterior facialheight, the anterior portions of theircranial bases were shorter, their upperand lower incisors tilted more lin-gually, and nasal areas that did notjut as far forward. But five years aftertreatment, the authors found no sig-nificant differences between the twogroups except for length of the cranialbase and of the nose both of whichremained shorter for the apnea pa-tients than for the control group.

A possible explanation for theseresults is that muscular equilibrium

changed after the nasal obstructionwas removed thus spontaneously re-storing contact between upper andlower lips, allowing tongue position torise, and restoring better head pos-ture, all effects that have been repeat-edly described since the first studieson breathing were conducted. But aSwiss orthodontist has formulated analternative hypothesis in evaluatingthese results23, asserting that theschema of the posterior mandibularrotation in young OSAS patients re-sults from a decrease in ramal growth,development of the condylar cartilagehaving slowed down because of adecrease in serum GH, growth hor-mone levels.

3 - 3 - Rapid palatal expansion

The work of Linder-Aronson andWoodside, cited by Villa30, describedthe effects of rapid palatal expansionon breathing even before the identifi-cation of obstructive sleep apnea inchildren. This orthopedic treatmentproduced a significant increase in thearea of the nasal fossas and a 36.2 to45% reduction in nasal resistance.The creation of additional space forthe tongue helped, secondarily, toopen up the oropharynx. In his study-Villa30 proposed to evaluate rapidmaxillary expansion in the treatmentof OSAS, using a sample of children 4to 11 years old, selected in accor-dance with three criteria:

– the existence of a malocclusion,with a deep and narrow vaulted palateassociated with overbite in a Class IIrelationship or anterior cross bite;

– OSAS symptoms, with habitualsnoring and pauses in respiration,sleep that is not restorative, an

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apnea-hypopnea per hour (AHI) > 1per hour, as measured by poly-somno-graphy;

– refusal of parents to have tonsil-lectomy and adenoidectomy per-formed on their child.

The investigators excluded fromtheir list subjects who were obese,had cardio-respiratory or neuro-mus-cular problems, had severe cranio-facial anomalies, or presented severesymptoms. The rapid expander wassoldered to two bands that werecemented to the maxillary secondtemporary molars and was activatedby two turns for the first 10 days untilthe palatal cusps of the upper molarswere in contact with the buccal cuspsof their mandibular antagonists.

The extent of expansion achievedwas an average of 3.7 + mm in thecanine region and 5.0 + 2.2 mm in themolar region. In a 12 month fixedretention period the over-correctionwas maintained. The AHI decreasedsignificantly after treatment, droppingfrom 5.8 ± 6.8 to 1.5 ± 1.6 (p = 0.005),together with an improvement in theindex of oxygen saturation and theindex of arousal from sleep. It shouldbe noted that the change in AHIdiffered as a function of the type ofmalocclusion, being greater with chil-dren with Class II overjet and overbitethan with children who had crossbites. For two patients (14,3%), therapid palatal expansion had no effecton AHI, the authors attributing this tomajor anatomical blockages, a nasalseptum deviation in one child andmarked hypertrophy of palatal softtissue that was repeatedly re-infectedin the other.

In order to evaluate the contributionto the treatment result maxillo-facial

orthopedics had played alongside ENTsurgery Guilleminault et al ) reviewedthe records of 32 patients, from 4 to 9year old, who needed removal ofexcess tonsilar and adenoidal tissueas well as orthodontic treatment andpresented a moderate OSAS condi-tion, as defined by their having aminimal oxygen saturation level of90%, and an IAH of less than 20 perhour. The children were divided intotwo groups, the first receiving surgicaltreatment before the rapid palatalexpansion and the other the sametherapies in reverse order. The results,evaluated by questionnaire and withpolysomnographic readings taken atthe time of diagnosis and betweenthree and six months after eachtherapeutic procedure had been com-pleted, showed that 87.5% of thepatients required both types of treat-ment. Surgery alone did not correctthe OSAS completely and in only twopatients did the OSAS symptomsdisappear after only orthodontic treat-ment. For two patients the apneacondition continued unabated despitetheir having received both therapies.

In this study, in which some pa-tients also received mandibular expan-sion, the maxillary expansion wasaccomplished with the opening ofthe orthopedic device a quarter of amillimeter per day. Both fixed andremovable appliances were used de-pending on the clinical situation andthe preference of the orthodontist.

3 - 4 - Mandibular advancementoral devices30

Mandibular advancement appli-ances, designed like orthopedicactivators, free up the pharynx and

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maintain a propulsive force on themandible, thus keeping palatal andbasal lingual soft tissues in a state oftension. Just as orthodontists use thistype of device to correct Class IImalocclusions in children and adoles-cents, therapists can be employ themto provide symptomatic treatment forsnoring and OSAS in adults.

Even if the effectiveness of thesedevices is variable, depending uponthe degree of mandibular advance-ment that can be obtained and theseverity of any morphological dispa-rities that may be present, oral appli-ances offer selected patients clinicalrelief that is documented by signifi-cant changes on polysomnographicrecords.

Certain studies have attempted toevaluate their efficacy in treatingchildren with apnea, particularly be-cause it has been shown that in non-obese patients the extent of maxillaryoverjet is associated with the severityof OSAS21. In one randomized clinicalstudy30, researchers treated 19 chil-dren, with an average age of 6.86years, with an advancement appliancefor 6 months and compared them to acontrol group of 13 untreated childrenwith an average age of 7.34 years.

They evaluated the patients with aquestionnaire, a polysomnograph, andclinical ENT and orthodontic examina-tions. No intraoral or cephalometricX-Rays were taken, in accord withAmerican recommendations.

The oral appliance, made fromalginate impressions, was set to anadvancement reading obtained byhaving the children bite on wax in aforced Class I position, so that theoverjet would be corrected and themandible re-centered. In each appli-ance an acrylic pearl was insertedbehind the incisor positions in a waythat would encourage proper tongueposition. Children were asked to wearthe appliance at all times except wheneating.

Of 19 patients treated, 87% hadexcessive overbite or a Class II protru-sion. Even though a quarter of thepatients abandoned treatment, a six-month evaluation showed a significantdecrease in IAH (p = 0.001), while thisbreathing variable remained constantin the control group. For 64.2% of thetreated children the IAH dropped atleast 50%, showing the effectivenessof the OSAS therapy accomplished inparallel to correction of the malocclu-sion.

4 - CONCLUSION

While orthodontists have madeevaluation of lip and tongue habits aregular component of the intake ex-aminations they conduct on potentialpatients, they have not yet routinelyincorporated an assessment of thequality of sleep and the presence orabsence of snoring into their pre-treatment record taking.

But according to some studies ofthe morphology of patients with ob-structive respiratory difficulties, itwould appear that when orthodontistsassess Class II malocclusions or un-derdevelopment or hyper-divergenceof upper or lower jaws, it is importantthat they determine whether or notsome aspect of obstructive sleep

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apnea is implicated in the disorderbefore they formulate a treatmentplan. Conclusions of research studiescan sometimes be fragile, in view ofthe small samples they consider, but itis clear that rapid palatal expansion ormandibular advancement can be at-

tractive alternatives to or useful ad-juncts to ENT surgery. More and morefrequently, orthodontists are nowbeing asked to begin early treatmentof patients afflicted with sleep apnea,sometimes for patients still in thetemporary dentition stage.

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JULIA COHEN-LEVY, PHILIPPE CONTENCIN, VINCENT COULOIGNER

120 Cohen-Levy J, Contencin P, Couloigner V. Cranio-facial morphology and obstructive sleep apnea