Review Article
The Multidisciplinary Evaluation and
Management of Cleft Lip and Palate
Nathaniel H. Robin, MD, Heather Baty, MS, Judith Franklin, RN, Fran C. Guyton, MS,
Judith Mann, MS, Audie L. Woolley, MD, Peter D. Waite, MPH, DMD, MD, and John Grant,
Abstract: Cleft lip with or without a cleft palate (CLP) and cleft
palate alone (CPA) are common birth defects, with a combined birth
prevalence of about 1 to 2/1,000.1 Affected children have a number
of medical issues and potential complications, and therefore require
a wide variety of healthcare specialists beyond plastic surgeons and
dental specialists. For this reason, the best environment in which to
deliver this care is a multidisciplinary cleft clinic (MCC) that features a team of healthcare providers, including audiology, pediatric
otolaryngology, speech pathology, occupational/feeding therapy, and
genetics. In this setting, the many medical issues that these children
face are comprehensively addressed in the most convenient manner,
as all the specialists can be seen in a single busy day. Furthermore,
the referring primary care provider (PCP) will receive a concise
letter that documents the team evaluation, including future management plans and recommendations for therapy. Unfortunately, few
papers are available in the literature that review the workings of
these clinics. In this paper we will provide such an overview, discussing the management issues for children with CLP/CPA, and
how these are addressed by members of the MCC.
Key Words: multidisciplinary cleft team, plastic surgery, speech
pathology, maxillofacial surgery, craniofacial genetics
C
left lip with or without a cleft palate (CLP) and cleft
palate alone (CPA) are among the most common birth
defects, with a combined birth prevalence of about 1 to
2/1,0001 (Table 1). Children with CLP/CPA face a wide variety of medical issues and medical complications. These extend beyond the surgical correction of the congenital defect,
and therefore require evaluation and interventions by a wide
variety of specialists. These issues are not static, as different
issues manifest or become more important at different ages.
Departments of Genetics, Pediatrics, Rehabilitation Services, Oral and Maxillofacial Surgery and Surgery, University of Alabama at Birmingham,
Birmingham AL.
Reprint requests to Nathaniel H. Robin, MD, Department of Genetics, University of Alabama at Birmingham, Kaul 210D, 1530 3rd Avenue South,
Birmingham, AL 35294. Email: nrobin@uab.edu
Accepted October 24, 2005.
Copyright © 2006 by The Southern Medical Association
0038-4348/0⫺2000/9900-1111
Southern Medical Journal • Volume 99, Number 10, October 2006
MD
For example, in the newborn period, making sure the infant
can feed adequately is the primary concern,2 but later, orthodontic and cosmetic issues become more prominent. Other
potential complications include hearing loss, speech, dental,
and orthodontic complications. These require consistent monitoring through adolescence and into adulthood.
To address the variety of primary and secondary problems associated with CLP/CPA, these individuals will see
many different specialists (Table 2). This is best accomplished
in the setting of a multidisciplinary cleft clinic (MCC).3 As
many as a dozen different specialists can be seen in a single
visit, making it convenient not only for parents but the child’s
primary care provider (PCP) as well, as the PCP will receive
a single concise letter summarizing the many specialists’ evaluations. This letter typically comes from the clinic director.
While this person is often the lead craniofacial surgeon or
clinic pediatrician, it can be any of the professionals listed in
Key Points
• Cleft lip and palate (CLP) is a common birth defect,
but one that requires a multidisciplinary approach to
optimize the chance of successful outcome.
• The multidisciplinary cleft team includes members
from many different medical specialties and branches.
Understanding the roles of these professionals is important for the primary care provider to facilitate the
best outcome for these patients.
• There are a variety of causes of CLP, including genetic and nongenetic causes. Identifying the cause for
a given patient is important to patient, their family as
well as the healthcare team.
• Planning the surgical repairs must take into account
many different considerations and must balance functional and aesthetic outcomes in the developing child.
These include speech production, dental health, and
facial growth.
• A child with CLP faces many potential associated
complications, including feeding problems, hearing
loss, and speech problems. These are monitored and
treated by various professionals in the CLP team.
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Robin et al • The Multidisciplinary Evaluation and Management of Cleft Lip and Palate
Table 1. Facts about cleft lip ⴙ/- palate (CLP) and
cleft palate alone (CPA)
Overall incidence of CLP and CPA is 1-2/1000 children
CPA is about 1/1500, but it is more common if submucous CPA is
included. Bifid uvula occurs in 1 of 80 patients and often occurs in
isolation, with no clefting of the palatal muscles.
Incidence of CLP varies by race. It is highest among American Indians, at
3.6 cases per 1000 live births, and lowest among African Americans,
with 0.3 cases per 1000 live births. The incidence of CPA does not
vary by race.
Of all CLP and CPA:
20% of all clefts are isolated cleft lip (18% unilateral, 2% bilateral)
50% are CLP (38% unilateral, 12% bilateral)
30% are CPA
CLP is twice as common in males; CPA is twice as common in females.
Table 2. With the clinic coordinator, the director is responsible for overseeing the overall evaluation and management
of the child and ensuring continuous communication with the
parents and the PCP.
Just as there is no single accepted leadership structure for
a MCC, the responsibilities of a team member may be somewhat different in a different center. For example, in one clinic,
alveolar bone grafting is done by a plastic surgeon, in another
it is done by a maxillofacial surgeon.
With this vast array of specialized healthcare providers,
the MCC may seem mystifying, even intimidating, to most
PCPs. There are many specialists in unfamiliar fields, each
evaluating and prescribing focused therapies. However, as the
PCP oversees the overall care of the child, they must have
some familiarity with the MCC. It is the purpose of this
article to review the management issues for children with
CLP/CPA and how these are addressed by members of the
MCC team.
The Newborn Period–Feeding
One of the first and most critical aspects of early management of the newborn with a CLP is adequate feeding and
nutrition. In one study, parents of infants with CLP reported
that their greatest concerns and problems were around feeding issues, more so than the etiology of the cleft or surgical
repair.2 For this reason, the first CLP team member to evaluate the child is often the occupational therapist. All CLP
infants are at risk for feeding difficulties due to the interruption of the baby’s seal on the nipple (with a cleft lip), and the
loss in the strength of the suck (with a cleft palate). The
occupational therapist will make an initial assessment and
appropriate recommendations about the best utensil (ie, bottle
and nipple) for the baby, and educate the family (and the
staff, if the baby is in the hospital) in the best feeding techniques, as well as the warning signs for problems that may
arise. CLP infants typically take a very long time to feed and
still take only small amounts of formula from the bottle.
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Table 2. Healthcare personnel in a typical cleft clinic
Clinic Directora
Clinic Coordinator (assistant to the clinic director)
Audiologists
Craniofacial Surgeon
Geneticist
Neurosurgeons
Nurses
Occupational Therapists
Oral and Maxillofacial Surgeons
Orthodontists
Otorhinolaryngologists (ENT)
Pediatrician
Pediatric Anesthesiologists
Pediatric Dentists and Prosthodontists
Pediatric Radiologists
Physical Therapists
Plastic Surgeons
Speech Language Pathologists
Surgeon’s Assistant
a
The clinic director can be any member of the team. There is no single
model, but the most common is for the director to be the clinic’s pediatrician
or one of the craniofacial surgeons.
These infants will often fatigue before taking the needed volume, and not gain weight. This is undesirable for many reasons, including causing a delay in the first surgical repair. To
address this problem, a bottle that allows assisted sucking
with an orthodontic nipple is recommended. These are wide
and soft and will assist in sealing the cleft and decreasing the
air intake. Concentrating the formula (or supplementing breast
milk) may be done as well. This is usually done in conjunction with a pediatric nutritionist.
Parents will often ask about breastfeeding an infant with
CLP. This may be possible if the palate is uninvolved, as the
breast tissue works as a mold to seal the cleft lip and promote
suction. However, if the palate is involved, it is not likely that
adequate suction can be achieved.
The occupational therapist will work with the child
and family on an ongoing basis. Problems may arise at any
time, but especially following surgical repairs, and when
foods are advanced to textures, spoon-feeding and cup
drinking, and later onto semisolid and solid foods. While
most children will adapt to these advances in diet without
difficulty, some will require more direction from the feeding therapist working with a nutritionist to make this a
smooth transition.
The Initial Visit to the Multidisciplinary
Cleft Clinic
The initial visit to the MCC typically includes a team
evaluation of the infant during which a diagnosis will be
© 2006 Southern Medical Association
Review Article
Fig. 1 A child with velocardiofacial syndrome (del22q11.2).
Note the narrow palpebral fissures, broad nasal root with a
bulbous tip, malar flattening, small mouth with sharp corners,
and small ears.
made (eg, isolated versus syndrome CLP), and a general treatment plan will be determined. This initial treatment plan will
include introduction of the family members to the team concept of care. In this treatment paradigm, all potentially involved caregivers are available through the MCC and will be
introduced as appropriate. For example, families with a 5-day
old infant will meet with the audiologist, geneticist, occupational therapist, nurse and plastic surgeon, but not an orthodontist. Therefore, the primary goal of the initial visit is to
provide information, clarify the diagnosis and to begin preparing the infant for the first operation.
Genetics Evaluation
Every child with a CLP should be evaluated by a medical
geneticist at some point to determine if the CLP is an isolated
finding or if it is part of a genetic syndrome. Some children,
especially those with multiple anomalies, will have had a
genetics evaluation during the newborn period. However,
many will not have been seen by a geneticist, especially those
who have no other major anomalies.
A genetics evaluation typically includes a detailed history, including taking a 3 to 4 generation pedigree, and a
detailed physical “dysmorphologic” examination that focuses
Southern Medical Journal • Volume 99, Number 10, October 2006
on form, size, proportion, positioning, spacing, and symmetry.4 While there are many potential benefits, the fundamental
purpose is to identify a genetic syndrome. Approximately
20% of CLP and a slightly higher number of CPA occur as
part of a genetic syndrome. While some are obvious, many
are subtle. For example, a child with velocardiofacial syndrome (VCFS) will manifest only minor facial findings in
addition to a cleft palate, and are often not recognized by
general pediatricians (Fig. 1).5
Why is making this diagnosis important? A good example is a child with CP as part of VCFS. These children have
a high likelihood of having other medical problems that may
not be identified, such as congenital heart defect, immune
deficiency and hypocalcemia. In addition, later in childhood,
they would be at risk for learning disorders, behavioral problems, and psychiatric disease. Speech problems can be seen
as well and include dyspraxia, forced speech, and hypernasal
speech due to velopharyngeal insufficiency (VPI). While VPI
can be a long-term complication for some CP patients, it is
seen at a much higher rate among VCFS patients.5 Furthermore, children with VCFS can have aberrant location of the
carotid arteries, which may complicate CP surgery. Knowing
this diagnosis allows surgeons to look for and anticipate these
complications. A genetic evaluation will help define the prognosis, aid in management decisions, define accurate recurrence risk for the parents, and permit access to appropriate
support groups. Lastly, it can address the question of why the
disease occurred (Table 3).
At the end of the genetics evaluation, recurrence risk
issues (the likelihood of having another child with a cleft) can
be addressed. When the CLP is part of a genetic syndrome,
counseling will focus on what is known about that syndrome,
including the recurrence risk, which can range from under 1%
to as high as 50% if one parent is affected with the same
autosomal dominant condition. However, the majority of CLP
occur as isolated findings. It is never possible to absolutely
rule out the presence of a genetic syndrome in a young infant,
as many conditions present only in older children as the
craniofacial appearance matures, or as other findings emerge.
However, in an otherwise well infant, parents can be reassured that the CLP is isolated. Recurrence risk estimates for
isolated CLP range from 1 to 7%, depending on the type and
severity of the cleft. The more extensive the cleft, the higher
the recurrence risk (eg, unilateral CL has a lower recurrence
risk than bilateral CLP).6 Furthermore, it is emphasized that
Table 3. Benefits of a genetics evaluation
1.
2.
3.
4.
5.
Define prognosis
Anticipation of future problems
Define accurate recurrence risk
Answer the question of why this occurred
Access appropriate support groups
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Robin et al • The Multidisciplinary Evaluation and Management of Cleft Lip and Palate
for parents of a baby with a CLP, their recurrence risk is for
a baby with a cleft of the lip, or a cleft of the lip and palate,
but not of the palate alone. This is because CLP has a different embryologic and genetic basis than CPA, so it is rare
that CLP and CPA would occur in the same family. However,
genetic advances are occurring rapidly, so in the near future
genetic testing may have a greater and very different role (see
Box 1).
Box 1. Advances in Understanding the
Genetic Basis of Cleft Lip and Palate
Today, genetic assessment is limited to differentiating between syndromic and isolated, and then quoting empirically-deduced recurrence risks for parents
of the affected child. However, we are in the midst of
an explosion in our understanding of the genetic basis of CLP. For example, mutations in MSX1,
TBX22, and IRF6 have all been identified in nonsyndromic CLP patients.1 It is the hope and expectation that genetic testing will provide an additional
level of differentiation beyond what is possible by
clinical examination only. We are limited in our ability to differentiate these subtypes by clinical evaluation—the cleft that occurs due to a mutation in
TBX22 may look no different from that associated
with an MSX1 or IRF6 mutation, or one that is caused
principally by environmental factors, such as maternal smoking. However, each type carries a different
recurrence risk for the family. Today, clinical geneticists counsel unaffected parents of a child with a CP
that they have approximately a 1% risk for having a
child with a CP with each future pregnancy, but that
recurrence risk is derived from large population studies6 that include CP patients of many etiologic subtypes. For some families, the CP is due to a mutation
in IRF6, TBX22 or MSX1, and these families have a
higher recurrence risk than other families, whose
child’s CP was caused by environmental factors, or
even by chance. We are unable to differentiate these
subtypes based on clinical evaluation, so we are left
to counsel these families in a most general and inaccurate manner. Another potential application of genetic testing may be offering prognostic information.
It may be that the different genetic forms of CLP
respond to surgery and therapies differently, with
higher or lower complication rates, such as residual
velopharyngeal insufficiency or maxillary underdevelopment. If this proves true, knowing the genetic
subtype of a CLP patient will allow the MCC staff to
modify their therapy to better address the patient’s
specific risks.
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Short- and Long-term Planning
Plastic Surgery
During the initial visit to the cleft clinic, the plastic surgeon will discuss relevant surgical procedures. This discussion will include the approximate ages for the surgical procedures as well as an explanation of the relevant details of the
procedure including risks and estimated length of hospital
stay as well as the expected in-hospital and posthospital recovery. Representative before and after photographs of similarly affected children on whom the surgeon has operated are
reviewed with the child’s family (see Box 2).
Box 2. Pierre Robin Sequence
Pierre Robin sequence (PRS) deserves special attention from a genetics perspective, as it represents an
entity distinct from typical clefting. PRS refers to the
constellation of U-shaped cleft palate, micrognathia,
and glossoptosis. It is not a “syndrome,” as it has been
mistakenly referred to often in past literature (for a
review of the differences between syndrome and sequence, see ref 3, but a sequence is series of anomalies
derived from a single anomaly. In this case, micrognathia causes the tongue to be displaced superiorly during
development, interfering with palatal closure at approximately 9 weeks gestation. So the CP is not caused by
genetic factors involved in palatal closure, but is due to
the small jaw. However, a sequence can be part of a
syndrome, as is approximately one-half of PRS cases.
The most common syndromes associated with PRS are
Stickler syndrome (SS), and VCFS. Therefore, every
baby with PRS should have a karyotype and FISH testing for del22q11, and an eye examination looking for
the typical findings of SS. As not all forms of SS have
eye involvement, babies with normal eye examinations
should be followed for other manifestations of SS, such
as spondyloepiphyseal dysplasia, hearing loss, and early
onset arthritis.
To understand CLP/CPA surgery, one must have some
understanding of its embryology (see ref 7 for a detailed
review). The upper lip develops from three anatomic subunits
which fuse together at approximately six weeks of gestation.
In the noncleft lip, these three subunits are the two lateral lip
elements and the central unit bordered by the two philtral
columns. The philtral columns mark the normal line of fusion
between these segments (Fig. 2). The failure of fusion (cleft)
occurs along the line of the philtral column and may extend
to the nose. A unilateral CL (uCL) will involve one philtral
column (Fig. 3a). A bilateral CL (bCL) will involve both
© 2006 Southern Medical Association
Review Article
rearrange the tissues and reconstruct the normal anatomy,
with particular attention to symmetry.
Planning Surgery
Fig. 2 Shaded area represents the philtral anatomic subunit
and is bordered laterally by the two philtral columns.
philtral columns, leaving a central prolabial segment connected to the columella of the nose (Fig. 3b). The orbicularis
oris muscle (which develops from branchial arch derivatives,
directed by cephalic neural crest cells) courses lateral to medial along each lateral lip segment. With uCL, the muscle
does not cross the cleft, and instead runs along the margin of
the cleft with aberrant attachments at the columella and alar
base of the nose on the side of the cleft. This muscle malalignment has been implicated in the etiology of the cleft
nasal deformity. In the case of a bCL, the muscle is therefore
absent from the central (prolabial) segment. This knowledge
is important in explaining to parents that all the critical parts
of the lip are present, so that the goal of surgery is simply to
Primary surgical procedures refer to those operations that
address the congenital anatomic defect in the lip, nose, palate
and/or alveolar ridge (cheiloplasty, rhinoplasty, palatoplasty
and gingivoplasty, respectively). The goal is to reconstruct
the body part in proper anatomic and esthetic fashion (Fig. 4).
Secondary procedures may be directed at complications of
primary operations, residual functional or esthetic deficiencies and failures of growth which may be secondary to surgical scarring or to an underlying genetic predisposition to
hypoplasia. While most children will need several operations,
the exact number depends on several variables. Some can be
predicted by the extent of the defect (eg, a bCLP will require
more procedures than a uCL), while others are more difficult
to predict, such as the likelihood of residual speech problems
or orthodontic complications.
Timing of Operations
The initial CL repair (“cheiloplasty”) typically occurs
when the infant is age 10 to 12 weeks. However, timing may
be altered for infants with associated medical conditions, such
as a cardiac malformation, or poor nutrition. The “Rule of
Tens” provides a simple guideline for timing the first operation: weight ten pounds, age ten weeks, and hemoglobin 10
g. Meeting these parameters signifies that the child is in a
positive nitrogen balance, receiving adequate nutrition.
Questions about feeding are especially important for infants with CLP, as feeding difficulties are very common in
early childhood. As discussed above, the occupational therapist is responsible for the ongoing monitoring of the baby’s
Fig. 3 Unilateral and bilateral cleft lip examples to illustrate effect of cleft on normal philtral subunit. (a) Unilateral cleft lip palate
with normal half of philtral subunit marked and shaded to the midline. Incision will mirror normal philtral column. (b) Bilateral cleft
lip palate with planned philtral subunit shaded. Incisions will border this shaded area and recreate two philtral subunits.
Southern Medical Journal • Volume 99, Number 10, October 2006
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Robin et al • The Multidisciplinary Evaluation and Management of Cleft Lip and Palate
Fig. 4 Aesthetic consideration to philtral subunit illustrated in pre- and postsurgery images of the same patient.
feeding and nutritional status. This becomes especially important as the time of surgery approaches, and during the
recovery period. During the postoperative period, progress in
feeding may be slowed or even reversed, so close monitoring
is needed at this time.
Some MCC teams advocate presurgical orthopaedics during the months before surgery. This may be as simple as
taping the two lip segments together across the cleft, thereby
artificially approximating the oral sphincter and allowing the
lip muscle to shape the bones of the maxillary segments.
More complex protocols involve weekly visits and various
acrylic splints to guide the two segments of the gums together.8 Other devices, such as the Latham appliance, involve a
mechanical system attached to the palatal shelves with pins.
The Latham appliance has a screw which is adjusted by the
parents at home, gradually pulling the two halves of the maxilla together.
Surgical Technique
ineffective suck during nursing. A unilateral CP will extend
anteriorly into the hard palate and may involve the alveolus as
well. One nasal passage is visible in the cleft with the vomer
attached to the larger maxillary segment. A bilateral CP will
be a midline cleft and may involve only the soft palate [Figure 5]. In this case two halves of the uvula will be seen on
either side of the cleft. As the cleft extends anteriorly, it may
involve the hard palate as far forward as the incisive foramen.
In this case, the vomer will be visualized as a narrow midline
structure in the depth of the cleft. If the cleft involves the
alveolar ridge, the cleft will then deviate to one or both sides
of the premaxilla. In all of these variations, the repair is
similar, in that the palate is repaired in layers, first closing the
nasal lining, then repositioning the levator veli palatini muscle (intravelar veloplasty) and lastly closing the oral mucosa
to anatomically reconstruct the palate. With a submucous CP
the palate appears intact to visual inspection, and feeding may
be normal. Consequently the diagnosis may be made much
later when the child demonstrates hypernasal speech. In ret-
There are several accepted and widely used surgical techniques for cheiloplasty, and while a detailed discussion of
each is not possible or appropriate for this review, we will
provide a brief overview. Most techniques are variations of
the rotation-advancement procedure first described by Millard.9 Many surgeons will also perform a simultaneous primary rhinoplasty to address the associated cleft nasal deformity at the same time as the cheiloplasty. This was once
condemned, as it was believed that extensive operations on
the infant nose might result in growth disturbance. However,
we now know that primary rhinoplasty does not have an
adverse effect on the nose.10
For infants with CLP, myringotomy tube placement is
usually performed at the same time as the cheiloplasty CP. As
described below, children with CLP or CPA will have eustachian tube dysfunction and most will have middle ear disease.
Cleft Palate Repair. Cleft palate (CP) may manifest as
unilateral, bilateral or submucous. An overt CP is typically
apparent on physical examination, but if missed at that time,
will present early after birth when the infant demonstrates an
Fig. 5 Intraoperative photograph of a cleft palate.
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© 2006 Southern Medical Association
Review Article
rospect, a close examination may reveal the diagnostic triad
of a submucous CP— bifid uvula, a palpable notch in the posterior border of the hard palate, and a central blue line or zona
pellucida indicating that the levator veli palatini muscles run
parallel to the midline and do not form an effective sling mechanism through the soft palate. These children may manifest frequent nasal regurgitation in infancy, be plagued by multiple
episodes of otitis media and later develop hypernasal speech.
The CP repair is usually performed at 6 to 12 months of
age. Earlier repair results in better speech outcomes, while a
later repair may have more favorable maxillary growth and
therefore better dental occlusion.11 The choice of 6 to 12
months represents a balance between these 2 outcomes. Most
CP repair is done in a single operation, and, as with CL
surgery, there are several accepted techniques. All include a
layered closure of the nasal lining and the oral lining, but
some techniques include the additional step of repairing the
muscles within the palate (levator veli palatine), thereby recreating the palatal muscular sling.
In some cases, CP surgery will be deferred until there is
sufficient growth of the maxillary segments to allow repair
under minimal tension. This is done to minimize healing
complications such as incision breakdown with fistula formation. Fistula formation between the oral and nasal cavities
is a major complication of CP surgery, as it may adversely
affect speech with nasal air escape, and permit nasal regurgitation of food. Fistulas require surgical repair, but due to the
scarred tissue, the success rate is as low as 50%, even in
experienced hands.12
Secondary Procedures. Secondary surgical procedures
are directed at enhancing the outcomes or addressing the
complications of primary operations. They may therefore address residual functional or esthetic deficiencies and failures
of growth. These unplanned outcomes may be secondary to
surgical scarring, or due to an underlying genetic predisposition to poor growth, as is seen with many syndrome-related
forms of CLP. The most common residual deficits seen at our
center include hypernasal speech due to velopharyngeal insufficiency and minor residual deformity of the nose and lip.
Failure of the maxilla to grow in concert with the mandible
and the resultant dental malocclusion are covered elsewhere
in this text (see Oral and Maxillofacial Surgery section).
Secondary Rhinoplasty. A secondary rhinoplasty is a
functional as well as esthetic procedure, as it will improve nasal
appearance as well as nasal patency. The widespread use in
primary cleft rhinoplasty has reduced the need for secondary
nasal surgeries, but it is still needed for more severe unilateral
defects and most bilateral defects. In general, the rhinoplasty is
deferred until after the dentoskeletal platform has been addressed
with alveolar cleft bone grafting and orthodontia.
Velopharyngeal Insufficiency and Speech Assessment.
A primary goal of CP surgery is normal speech. However,
regardless of surgical technique, the surgeon’s experience, or
Southern Medical Journal • Volume 99, Number 10, October 2006
any other measurable variable, about 10 to 20% will manifest
velopharyngeal insufficiency (VPI).13 The number is even
greater for those children with an underlying genetic syndrome, such as velocardiofacial syndrome.13 VPI occurs when
there is an inability of the soft palate to achieve tight closure
with the lateral and posterior pharyngeal walls, resulting in
air that should be directed through the mouth leaking through
the nose. VPI manifests itself in speech through audible nasal
air escape (ANAE) and hypernasal resonance. VPI can be
caused by structural abnormalities, neurogenic etiologies, or
mislearning, all of which can be seen in CLP patients.
A speech/language pathologist (SLP) will determine
the presence or absence of velopharyngeal closure through
careful speech assessment that includes a nasopharyngoscopic
examination and in some cases, multiview videofluoroscopy.
These will document the structure and function of the velopharyngeal mechanism. While in some cases ANAE may be
evident in casual conversation, it may be so mild as to require
assessment of articulation or careful clinical examination. Even
mild hypernasality may distort speech sound production by reducing the child’s ability to build intraoral air pressure, affecting
the consonants s, z, sh, f, p, and b. Simple methods can be used
to diagnose VPI, such as holding a mirror below the nose which
will be fogged by the nasal air escape, or a hearing aid stethoscope or nasal listening tube to detect nasal air flow on pressure
sounds.14
Hypernasal resonance of speech is another manifestation
of VPI. In the English language there are only three consonants that should be nasalized: /m/, /n/, and /ng/. Very mild
hypernasality can be functional (as in the case of some dialects), but most often is pathologic, secondary to VPI. Again,
simple diagnostic methods can be used to evaluate hypernasality, such as comparing the quality of resonance with the
nose pinched closed and open. The degree of hypernasality
can be determined using tools such as the Nasometer (Kay
Elemetrics Corp., Lincoln Park, NY), which provides a visual
analysis of the oral-nasal resonance ratio.15,16
Articulation (speech sound) development, while closely
interrelated with resonance, must be evaluated separately. A
child with a repaired CP may have articulation errors caused
by VPI or by structural abnormalities such as dental malocclusions or fistulas. They may also have developmental speech
delays as could be seen in a child without a cleft. Children
with VPI may also develop compensatory articulation errors
– errors that are caused by the child’s efforts to produce
understandable speech with an inadequate speech mechanism.
There are over ten different compensatory articulation strategies, such as the “glottal stop” and “pharyngeal fricative”
(Box 3). With these and other compensatory errors, management of the underlying cause of the VPI, either with surgery
or a dental prosthesis, is needed before speech therapy can be
effective.
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Robin et al • The Multidisciplinary Evaluation and Management of Cleft Lip and Palate
Box 3. Common Compensatory
Speech Errors: The “glottal stop” and
“pharyngeal fricative”
A glottal stop is made by adducting the vocal cords
and allowing air pressure to build below the level of the
glottis followed by an explosive release of the air. Glottal stops can be heard in the interjection “uh oh” but are
rarely used in English. They are present in some nonstandard English dialects such as Cockney, and are normal in other languages such as Hebrew and Japanese. A
child with VPI uses the glottal stop to replace stop
consonants (p, b, t, d, k, g). While this produces an
aberrant sound, the glottal stop may improve speech
intelligibility in a child who can only produce vowels.
A pharyngeal fricative is produced by moving the
posterior portion of the tongue near to the posterior
pharyngeal wall then pushing air between this constriction. Pharyngeal fricatives are used in place of speech
sounds which require oral air flow over some point of
constriction in the mouth such as [s, z, f, sh]. As with
the glottal stop, the sound produced is very aberrant but
can improve a child’s ability to make him understood.
Dental and Oral and Maxillofacial Issues
A major goal of CLP surgery is normal midface skeletal
growth, and for this to occur it is necessary to have proper
reconstruction of the facial and masticatory muscles. Their
normal activity stimulates primary and secondary growth centers of the facial skeleton. Abnormal oral function leads to
abnormal stimulation, which will manifest as malocclusion,
cross bites, impacted teeth, midface deficiency, nasal obstruction, and apnea.16 Even with the best repair, about 25% of
CLP patients will have some residual jaw deformities that
will require additional surgery.17 Until recently, the standard
surgery would move the mandible back to fit the underdeveloped maxilla. However, current surgical techniques use
complete maxillary osteotomy (LeFort 1) to advance the deficient maxilla.18 This can be done with minimal morbidity,
length of stay, and yields overall better cosmetic/functional
results. Such extensive surgery is best performed after bone
growth is complete, usually the age of menarche for girls and
about age 18 for boys.
Orthodontic treatment may be performed at different
stages of the patient’s development, depending on the particular problem. As the treatment is often lengthy, unpleasant,
and expensive, it presents a burden to both the family and
child. They must be motivated to complete the treatment and
able to remain compliant over the course of the therapy,
which is often several years. As discussed above, some centers treat neonates with CLP using maxillary obturators and
1118
arch molding. These devices prevent nasal reflux, and keep
the tongue from displacing the cleft segments. The splint is
modified by the pediatric dentist allowing the function of the
lips to bring the segments in better anatomic location, thereby
assisting in closure of the alveolar defect and hard palate.
In somewhat older children, once primary teeth erupt,
palatal expanders can be used to move the segments and align
the palatal arches. This is intended to prevent malocclusion in
the deciduous dentition, an important step in reducing the
occurrence of later orthodontic problems.
During the period of mixed dentition (presence of both
permanent and deciduous teeth) orthodontic treatment is focused on preparing for alveolar bone grafting. As many as
75% of CLP patients have osseous defects of the maxillary
alveolar bone, and grafting this defect is needed to normalize
facial and dental function. Typically, bone grafting is done
before orthodontic treatment, as it will lessen the time in
braces, and gives more time for eruption and support of the
permanent teeth.19 The orthodontist and the oral and maxillofacial surgeon must work together in preparing the area for
grafting. The palatal segments must be aligned, and the cleft
area should be clear of chronic inflammation from the teeth or
fistula. Baby teeth adjacent to the cleft should be extracted at
least 1 month before to allow healthy attached gingiva. Timing is critical, as this is best done after the majority of facial
growth is complete and the secondary dentition is erupting;
typically at about 6 to 8 years of age, or when the central
incisors are erupting. Secondary bone grafting yields superior
results to primary grafting, which is done in the first 18
months of life. This is because primary bone grafting retards
growth and the quality of bone is poor by the time the cuspid
erupts.20 In older children and adolescents, orthognathic surgery is often required in addition to orthodontic treatment, as
the secondary skeletal jaw deformities must be corrected to
get the teeth in proper alignment. This is most predictable
after growth is complete as an adult.
Oral Hygiene
Many parents of a child with a CLP assume that their
child’s dentition is hopeless and therefore ignore routine dental care. Teeth will often be poorly formed, lacking enamel,
and be at risk loss due to decay. However, the presence of
functional teeth actually stimulates and retains alveolar bone,
and is important for lip support and function. Furthermore,
CLP patients are often missing teeth, and therefore the teeth
that do form will be carefully protected. Routine oral hygiene
and prevention of dental caries is therefore very important,
and should begin as soon as the first tooth erupts.
Hearing and CLP
Otitis media (OM) with middle ear effusion (MEE) is
present in virtually all infants under 2 years of age with an
unrepaired CP.21 This is attributed to eustachian tube dys© 2006 Southern Medical Association
Review Article
function. Although anatomically patent, they are unable to
open properly and ventilate the middle ear. Following CP
repair, rates of OM are reduced, but for most patients, middle
ear disease remains an important problem well into adult
life.22 If untreated, chronic middle ear disease can extend to
the inner ear resulting in sensorineural hearing loss.3 Whether
permanent or intermittent, this hearing loss can have a significant negative impact on speech and language development, resulting in language deficits, lowered academic performance, reduced cognitive skill and behavioral problems.23
It is therefore crucial that children with CP have frequent and
consistent hearing evaluations throughout childhood and beyond. While minimal guidelines exist,3 each child must be
reviewed individually at each clinic visit to determine if additional testing is needed.
An audiologist should obtain a baseline hearing evaluation at the initial MCC visit, and follow-up testing at each
subsequent visit. If middle ear pathology is suspected, referral
is made to the pediatric otolaryngologist for management.
This includes early myringotomy, aspiration of fluid, and
insertion of myringotomy tubes followed by repeat tube insertion as needed to maintain middle ear ventilation. For patients with an associated CL, myringotomy tubes can be
placed at the same time of CL repair, around 2 to 3 months.
For CPA patients with persistent MEE, myringotomy and
tympanostomy tube insertion should be done within the first
year of life.23
For children whose hearing is within the normal range,
tube insertion can be delayed beyond 12 months, or even
indefinitely. For such children, tympanometry is done every
visit until they have been symptom free, with normal tympanograms and no episodes of otitis media for one year. For all
children, tympanograms are a recommended part of an annual
comprehensive evaluation until at least age six.3 However,
children with intermittent OM/MEE are followed as long as
hearing loss and/or abnormal tympanometry presents. In such
children, myringotomy tubes should be re-inserted once they
extrude.
Long-term Issues
The long-term health concerns for CLP patients, as well
as for children with birth defects in general, have been insufficiently studied.24 It is reasonable to assume that individuals
with CLP should have relatively normal long-term health, as
CLP is a repairable birth defect, and the associated medical
issues are for the most part readily treatable.25 However,
several studies have suggested that individuals with CLP have
a higher than expected incidence of psychiatric and behavioral diseases,26 –27 an increased risk for cancer,28 –29 and an
increased mortality in general from all major causes of
death.25 There is no readily apparent explanation for these
concerning findings, as these are not related to the occurrence
of associated anomalies or coexisting syndromes. While these
Southern Medical Journal • Volume 99, Number 10, October 2006
findings must be viewed as preliminary, they emphasize the
need for more comprehensive and extended follow-up of CLP
patients to monitor for these and other long-term healthcare
complications.
Acknowledgments
NHR is supported by NIDCD 1 P50 DE16215.
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Having a family is like having a bowling alley installed
in your brain.
—Martin Mull
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© 2006 Southern Medical Association