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{{Sleep apnea}}
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{{CMG}}; {{AE}} [[Kashish Goel|Kashish Goel, M.D.]]
{{CMG}};


==Craniofacial syndromes==
==Overview==
There are patterns of unusual facial features that occur in recognizable syndromes. Some of these craniofacial syndromes are genetic, others are from unknown causes. In many craniofacial syndromes, the features that are unusual involve the nose, mouth and jaw, or resting muscle tone, and put the individual at risk for obstructive sleep apnea syndrome.


[[Down Syndrome]] is one such syndrome. In this chromosomal abnormality, several features combine to make the presence of obstructive sleep apnea more likely. The specific features in Down Syndrome that predispose to obstructive sleep apnea include: relatively low muscle tone, narrow [[nasopharynx]], and large tongue. Obesity and enlarged tonsils and adenoids, conditions that occur commonly in the western population, are much more likely to be obstructive in a person with these features than without them.  Obstructive sleep apnea does occur even more frequently in people with Down Syndrome than in the general population. A little over 50% of all people with Down Syndrome suffer from obstructive sleep apnea (de Miguel-Díez, et al 2003), and some physicians advocate routine testing of this group (Shott, et al 2006).
==Causes==


In other craniofacial syndromes, the abnormal feature may actually improve the airway- but its correction may put the person at risk for obstructive sleep apnea ''after'' surgery, when it is modified. [[Cleft palate]] syndromes are such an example. During the newborn period, all humans are obligate nasal breathers. The palate is both the roof of the mouth and the floor of the nose. Having an open palate may make feeding difficult, but generally does not interfere with breathing, in fact - if the nose is very obstructed an open palate may relieve breathing. There are a number of clefting syndromes in which the open palate is not the only abnormal feature, additionally there is a narrow nasal passage - which may not be obvious. In such individuals, closure of the cleft palate- whether by surgery or by a temporary oral appliance, can cause the onset of obstruction.
===Life Threatening Causes===


Skeletal advancement in an effort to physically increase the pharyngeal airspace is often an option for craniofacial patients with upper airway obstruction and small lower jaws (mandibles). These syndromes include [[Treacher Collins Syndrome]] and [[Pierre Robin Sequence]]. [[Mandibular advancement surgery]] is often just one of the modifications needed to improve the airway, others may include reduction of the tongue, tonsillectomy or modified[[uvulopalatoplasty]].
===Common Causes===


==Pharyngeal flap surgery may cause obstructive sleep apnea==
===Causes by Organ Systems===
Obstructive sleep apnea is a serious complication that seems to be most frequently associated with [[pharyngeal flap]] surgery, compared to other procedures for treatment of [[velopharyngeal inadequacy]] (VPI).<ref name=Sloan>Sloan, G.M. (2000). Posterior pharyngeal flap and sphincter pharyngoplasty: The state of the art. ''Cleft Palate-Craniofacial Journal'', 37(2), 112-122.</ref> In OSA, recurrent interruptions of [[Respiration (physiology)|respiration]] during sleep are associated with temporary [[airway obstruction]]. Following pharyngeal flap surgery, depending on size and position, the flap itself may have an “[[obturator]]” or obstructive effect within the [[pharynx]] during sleep, blocking ports of airflow and hindering effective [[Respiration (physiology)|respiration]].<ref name=Pugh>Pugh, M.B. et al. (2000). Apnea. ''Stedman’s Medical Dictionary (27th ed.)'' Retrieved [[June 18]], [[2006]] from STAT!Ref Online Medical Library database.</ref><ref name=Liao2004>Liao, Y., Noordhoff, M.S., Huang, C., Chen, P.K.T., Chen N., Yun, C. et al. (2004). Comparison of obstructive sleep apnea syndrome in children with cleft palate following Furlow palatoplasty or pharyngeal flap for velopharyngeal insufficiency. ''Cleft Palate-Craniofacial Journal'', 41(2), 152-156.</ref> There have been documented instances of severe airway obstruction, and reports of post-operative OSA continue to increase as healthcare professionals (i.e. physicians, speech language pathologists) become more educated about this possible dangerous condition.<ref name=PetersonFalzone>Peterson-Falzone, S.J., Hardin-Jones, M.A., & Karnell, M.P. (2001). ''Cleft Palate Speech (3rd ed.)''. St. Louis: Mosby.</ref> Subsequently, in clinical practice, concerns of OSA have matched or exceeded interest in speech outcomes following pharyngeal flap surgery.
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The surgical treatment for velopalatal insufficiency may cause obstructive sleep apnea syndrome. When velopalatal insufficiency is present, air leaks into the nasopharynx even when the soft palate should close off the nose. A simple test for this condition can be made by placing a tiny mirror at the nose, and asking the subject to say "P". This p sound, a plosive, is normally produced with the nasal airway closed off - all air comes out of the pursed lips, none from the nose. If it is impossible to say the sound without fogging a nasal mirror, there is an air leak - reasonable evidence of poor palatal closure. Speech is often unclear due to inability to pronounce certain sounds. One of the surgical treatments for velopalatal insufficiency involves tailoring the tissue from the back of the throat and using it to purposefully cause partial obstruction of the opening of the nasopharynx. This may actually''cause''obstructive sleep apnea syndrome in susceptible individuals, particularly in the days following surgery, when swelling occurs (see below: Special Situation: Anesthesia and Surgery)
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===Causes in Alphabetical Order===
 
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==References==
{{reflist|2}}
 
[[Category:Sleep disorders]]
[[Category:Medical conditions related to obesity]]
[[Category:Pulmonology]]
[[Category:Cardiology]]
[[Category:Signs and symptoms]]
[[Category:Cardiology]]
[[Category:Primary care]]
 
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Revision as of 15:43, 10 August 2013

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Causes by Organ Systems

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