CLINICAL ARTICLE
A 35-Year Experience With Syndromic Cleft Palate Repair
Operative Outcomes and Long-term Speech Function
Marten N. Basta, BS,*Þ Jason Silvestre, BS,*Þ Carrie Stransky, MD,þ Cynthia Solot, MA, CCC,Þ
Marilyn Cohen, BA, LSLP,Þ§ Donna McDonald-McGinn, MD,|| Elaine Zackai, MD,||
Richard Kirschner, MD,¶L David W. Low, MD,*Þ Peter Randall, MD,*Þ Don LaRossa, MD,*Þ
and Oksana A. Jackson, MD*Þ
Background: Associated comorbidities can put syndromic patients with cleft
palate at risk for poor speech outcomes. Reported rates of velopharyngeal
insufficiency (VPI) vary from 8% to 64%, and need for secondary VPI sur-
gery from 23% to 64%, with few studies providing long-term follow-up. The
purpose of this study was to describe our institutional long-term experience
with syndromic patients undergoing cleft palatoplasty.
Methods: A retrospective review was conducted of all patients with
syndromic diagnoses undergoing primary Furlow palatoplasty from 1975 to
2011. Outcomes included postoperative oronasal fistula (ONF) and need for
secondary VPI surgery. Speech scores for verbal patients 5 years or older were
collected via the Pittsburgh scale for speech assessment. Aggregate scores
categorized the velopharyngeal mechanism as competent, borderline, or in-
competent. Outcomes were analyzed by patient and operative factors.
Results: One hundred thirty-two patients were included with average age at
repair of 20.7 months. Cleft type was 9% submucosal, 16% Veau class I, 50%
class II, 12% class III, and 13% class IV. Forty-five syndromes were recorded,
most commonly Stickler syndrome (n = 32) and 22q11.2 deletion syndrome
[22q11.2DS (n = 19)]. Forty-four patients also had associated Pierre Robin
sequence (PRS). The overall ONF rate was 4.5% and was highest in Veau class
IV clefts (P = 0.048). Seventy-six patients were included in speech analysis, with
an average age at last assessment of 10.4 years. Overall, 60.5% of patients had a
competent velopharyngeal mechanism, 23.7% borderline, and 15.8% incompe-
tent mechanism. Fifty percent of 22q11.2DS patients had borderline speech
and none had competent speech, compared to 73.3% with Stickler syndrome
(P = 0.01) and 71.4% of patients with associated PRS (P = 0.02). Secondary VPI
surgery was performed in 11.4% of patients overall. Patients with PRS (13.6%)
Received April 30, 2014, and accepted for publication, after revision, May 10,
2014.
From the *Division of Plastic Surgery, Perelman School of Medicine at the Uni-
versity of Pennsylvania; †Division of Plastic Surgery, Children’s Hospital of
Philadelphia, Philadelphia, PA; ‡Division of Plastic Surgery, Johns Hopkins
Health System, Baltimore, MD; §Division of Plastic Surgery, Cooper Univer-
sity Hospital, Camden, NJ; ||Department of Genetics, Children’s Hospital of
Philadelphia, Philadelphia, PA; ¶The Ohio State University College of Medi-
cine; and LSection of Plastic and Reconstructive Surgery, Nationwide
Children’s Hospital, Columbus, OH.
Supported by the Department of Surgery of the Children’s Hospital of Philadelphia
and the Perelman School of Medicine at the University of Pennsylvania.
Presented at the Northeastern Society of Plastic Surgeons, September 2013, Washington,
DC; at the 71st Annual American Cleft Palate-Craniofacial Meeting, March
2014, Indianapolis, IN; and at the 15th Biennial Congress of International Society
of Craniofacial Surgeons, September 2013, Jackson Hole, WY.
Marten N. Basta and Jason Silvestre were responsible for the data analysis, data
interpretation, and manuscript preparation; Carrie Stransky, Cynthia Solot,
Marilyn Cohen, Donna McDonald-McGinn, Elaine Zackai, Richard Kirschner,
David W. Low, Peter Randall, and Don LaRossa, data interpretation and critical
revisions; and Oksana A. Jackson, study conception, data analysis, data inter-
pretation, and manuscript preparation.
Conflicts of interest and sources of funding: none declared.
Reprints: Oksana A. Jackson, MD, Division of Plastic Surgery, Children’s Hospital
of Philadelphia, Colket Translational Research Building, 3501 Civic Center
Blvd, 9th Floor, Philadelphia, PA 19104. E-mail: Jacksono@email.chop.edu.
Copyright * 2014 by Lippincott Williams & Wilkins
ISSN: 0148-7043/14/7302-S130
DOI: 10.1097/SAP.0000000000000286
S130 www.annalsplasticsurgery.com
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and with Stickler syndrome (15.6%) had secondary VPI surgery, compared to
31.6% of patients with 22q11.2DS (P = 0.01).
Conclusions: This study demonstrates low rates of postoperative ONF after
modified Furlow palatoplasty in syndromic patients. Speech outcomes were
comparable to nonsyndromic patients at our institution, but patients with
22q11.2DS consistently had borderline-incompetent speech and a 3-fold
higher incidence of secondary VPI surgery.
Key Words: cleft palate, Pierre Robin sequence, 22q11.2 deletion syndrome,
Stickler syndrome, speech, Furlow palatoplasty
(Ann Plast Surg 2014;73: S130YS135)
C left palate can be associated with a variety of syndromes, and
this occurs with an incidence approximating 15% to 30%.1
Characteristic cleft morphology has been described in the literature
associated with specific syndromes, examples include higher pro-
portions of submucosal clefting in 22q11.2 deletion syndrome
(22q11.2DS)2 and the wide, horseshoe-shaped cleft of the secondary
palate frequently seen in Pierre Robin sequence (PRS).3
After palatoplasty, syndromic patients may be at an increased
risk for poor speech outcomes and require additional surgical in-
terventions to achieve acceptable velopharyngeal function. Reasons for
this are 2-fold: first, all patients undergoing palatoplasty may experi-
ence complications from the repair, including potential for palatal
movement restriction, scarring, and nerve damage, and second, partic-
ular syndromes have inherent characteristics that variably affect the
velopharyngeal mechanism. Upton et al4 described poor oral-motor
coordination and muscular hypotonia in the etiology of speech dys-
function seen in Kabuki syndrome. Connective tissue diseases such as
Stickler syndrome and ectodermal dysplasia, nervous system disorders
such as Moebius syndrome, craniofacial disorders including Treacher
Collins and hemifacial microsomia, and developmental disorders as-
sociated with genetic trisomies, all can affect speech function in distinct
manners aside from the cleft palate.5Y8
The literature on speech outcomes after cleft palate repair in the
syndromic population is limited and widely variable. The reported in-
cidence of velopharyngeal insufficiency (VPI) in this complex and
heterogeneous group ranges from 8% to 64%, and the need for sec-
ondary speech surgery ranges from 23% to 64%.9Y11
The purpose of this study was to describe a single institution’s
long-term experience with palatoplasty in syndromic patients using
the modified Furlow technique. We sought to summarize long-term
operative and speech outcomes, and identify which patient factors
may affect outcomes with the ultimate goal of improving our un-
derstanding of this complex and diverse patient population.
METHODS
After receiving approval from the institutional review board, a
retrospective review was conducted of all patients with a documented
syndromic diagnosis or genetic mutation associated with cleft palate
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Annals of Plastic Surgery & Volume 73, Supplement 2, December 2014 An Experience With Syndromic Cleft Palate Outcomes

the soft palate in the second stage earlier in our experience, particularly
TABLE 1. Patient and Operative Characteristics (n = 132) patients with very wide clefts. In addition, 5 patients in this series
Male/female 66:66 underwent pharyngoplasty simultaneously with cleft palate repair due
Follow-up, y 7.8 (4.7) to anticipated poor speech outcomes related to their syndromic diag-
Distinct syndromes/mutations 45 nosis, cleft width, or delayed age at repair. This was also a practice
Stickler 32
performed earlier in our institutional experience that has been
discontinued due to concern for airway obstruction in younger patients.
22q 19
These operative factors were considered in the outcomes analysis.
CHARGE 10 The following data were collected: sex, race, specific syndromic
Syndrome associated with PRS 44 diagnosis, Veau cleft type, presence of PRS after birth, and history of
Hearing loss, n (%) 44 (33.3) airway management for patients with PRS. Pierre Robin sequence was
Mild-moderate 33 (25.0) defined as the triad of glossoptosis, micrognathia, and documented
Severe 11 (8.3) airway obstruction.16 Additional medical history such as other con-
Bilateral 35 (79.5) genital anomalies, cognitive developmental history, hearing status, and
Conductive 29 (65.9) general functional capacity were collected as available. Operative data,
Sensorineural 9 (20.5) including age at palatoplasty, primary surgeon, and repair in 1 or 2
Mixed 6 (13.6)
stages were collected. Surgical outcomes at follow-up included pres-
ence and location of oronasal fistula (ONF).
Speech delay, n (%) 43 (32.6)
Serial speech assessments were collected using the Pittsburgh
Mild 26 (19.7) Weighted Values for Speech Symptoms Associated with Velopharyngeal
Severe 11 (8.3) Incompetence17,18 by one of 2 senior speech pathologists with docu-
Age at CP repair, mo 20.6 (23.4) mented interrater reliability.15 The Pittsburgh scoring system separately
Provider, % scores nasal emission, facial grimace, nasality, phonation, and articula-
Surgeon 1 51 tion. Aggregate scores are further classified as competent to borderline
Other 49 competent (0Y2), borderline competent to incompetent (3Y6), or incom-
Two-stage CP repair, n (%) 33 (25.0) petent (7 or higher). Speech outcomes included total Pittsburgh score and
Primary VPI surgery, n (%) 5 (3.8) incidence of secondary VPI surgery. Additionally, hearing impairment
was characterized by type, and severity as mild or moderate if no hearing
CP indicates cleft palate. appliance was required, or severe if requiring hearing appliance, and
developmental delay was noted if present. Patient data were excluded
who underwent primary modified Furlow palatoplasty at the Children’s from speech analysis if they were younger than 5 years at evaluation, if
Hospital of Philadelphia (CHOP) from January 1, 1980, to January 1, records were incomplete, if VPI surgery was performed before formal
2011. Patients were excluded if they had another other type of repair, speech evaluation at age 5 years, or if hearing disability or developmental
underwent primary palatoplasty at another institution, or did not have delay was felt to significantly affect speech.
a confirmed genetic diagnosis. The modified Furlow technique is Data analysis was done via standard summary statistics in-
performed almost exclusively at CHOP and the technique has been cluding means and standard deviations for continuous variables and
described in detail in previous publications.12Y15 A number of patients contingency tables for dichotomous data points. Tests for association
(n = 33) underwent a 2-staged palate repair with a modified Furlow of were done via students paired t tests, Fisher exact test, or W2 analysis

FIGURE 1. Veau class.

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Basta et al Annals of Plastic Surgery & Volume 73, Supplement 2, December 2014

TABLE 2. Genetic Mutations/Syndromes List Syndromes (n)

Syndromes (n)
Stickler (32) Moebius (2) Hay-Wells syndrome (1)
22q (19) VACTERL (2) Marshall syndrome (1)
CHARGE (10) Hypertelorism (2) Diamond Blackfan syndrome (1)
EEC syndrome (7) Arthrogryposis (2) Duane syndrome (1)
Goldenhar (4) Aarskog (1) Wolf-Hirschhorn (1)
Orodigital facial syndrome (4) Branchio-oto-renal syndrome (1) Fetal alcohol syndrome (1)
Kabuki (4) Popliteal pterygium syndrome (1) Hypothalamic adipsia (1)
Apert (3) Prader-Willi (1) Fraser syndrome (1)
Familial clefting syndrome (2) Cerebrocostomandibular (1) Branchio-oculo-facial syndrome (1)
Beckwith-Wiedemann (2) Down (1) Gordon syndrome (1)
Cornelia de Lange (2) Jacobsen (1) Klippel-Feil (1)
Genetic Mutations (n)
Deletions Chrom 1 (1), 4q (3), 11q (1), 15q14 (1), 18q (2), 19 (1), Y (1)
Polyploidy 3q (1), 4q (1), 5p (1), 8, (1), 10 (1), Penta X (1)
Other Ring chromosome 18 (1), chromosome 9 translocation (1)

when indicated. P values less than 0.05 were considered statistically Velopharyngeal insufficiency surgery was performed either before
significant, and multivariate logistic regression was performed for or concurrently with palatoplasty in 5 patients. A total of 6 surgeons
outcomes with more than 1 associated variable. performed palatoplasties in this group, with 1 surgeon performing 51%
of the operations, and all others performing 49% of operations. Finally,
RESULTS 25% of patients had 2-stage cleft palate repairs.
Overall, 45 different syndromes and/or genetic mutations were
Patient and Operative Characteristics identified (Table 2). The most frequently diagnosed syndromes were
A total of 171 syndromic patients were identified with cleft Stickler syndrome (32 patients), followed by 22q11.2DS (19 patients).
palate. Of these, 39 were excluded for the following reasons: 17 did A total of 44 syndromic patients were diagnosed with Pierre Robin
not undergo cleft palate repair, 11 patients underwent repair by tech- sequence (sPRS) after birth. History of airway management in the sPRS
niques other than the modified Furlow, 6 patients did not have an subgroup in the neonatal period was by positioning alone in 61% of
identifiable syndrome, and 5 patients underwent primary repair at an patients and operative in 39% of patients, most of which were managed
outside institution. Thus, a total of 132 patients with documented by tongue-lip adhesions.
syndromic diagnosis who underwent primary modified Furlow
palatoplasty at the CHOP between 1980 and 2011 were included in this
study (Table 1). Average age at palatoplasty was 20.6 months (range,
6Y154 months), whereas average length of follow-up was 7.8 years TABLE 4. Factor Analysis for ONF
(range, 1.3Y20.6 years). Regarding cleft type, 12 (9%) patients had No ONF ONF
submucosal clefts, 21 (16%) had Veau class I clefts, 66 (50%) had Factor Subgroup (n = 126), % (n = 6), % P
class II clefts, 16 (12%) had class III clefts, and 17 (13%) had class IV
clefts (Fig. 1). One third of patients had some degree of hearing loss; Age, mo G12 34.9 66.7 0.32
however, only 8% had severe hearing loss. Furthermore, speech delay 12Y18 42.1 16.7
was diagnosed as mild in 20% of patients and severe in 8% of patients. 918 23.0 16.7
Sex Male 49.2 66.7 0.68
Female 50.8 33.3
TABLE 3. Operative Outcomes Cleft type SMCP 9.5 0.0 0.001
ONF 6 (4.5%) I and II 68.3 16.7
Anatomic location III and IV 22.2 83.3
Soft palate 1 Surgeon Surgeon 1 50.8 50.0 1.0
Sp-Hp junction 5 Other 49.2 50.0
Cleft type distribution Staged CP repair Single-stage 77.6 16.7 0.004
Veau class II 1 Two-stage 22.4 83.3
Veau class IV 5 Hearing loss None 46.8 83.3 0.83
Syndromes 6 Mild-moderate 25.4 16.7
22q 1 Severe 8.7 0.0
Stickler 1 Speech delay None 61.9 100 0.086
Familial clefting syndrome 1 Mild-moderate 38.1 0.0
Orbital hypertelorism 1 Syndrome sPRS 34.1 16.7 0.663
EEC 1 Stickler 24.6 16.7 1.0
VACTERL 1 22q 14.3 16.7 1.0
EEC indicates ectrodactyly-ectodermal dysplasia; Hp, hard palate; Sp, soft palate. CP indicates cleft palate; SMCP, submucosal cleft palate.

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Annals of Plastic Surgery & Volume 73, Supplement 2, December 2014 An Experience With Syndromic Cleft Palate Outcomes

TABLE 5. Adjusted Risk Factors for Oronasal Fistula and Poor

Speech Outcomes
Outcome Factor OR (95% CI) P
Speech score Surgeon 1.23 (0.87Y1.74) 0.249
22q 7.50 (1.11Y47.4) 0.021
Secondary VPI surgery 22q 4.75 (1.19Y17.24) 0.013
ONF Class IV cleft 25.81 (1.02Y64.9) 0.048
Two-stage repair 20.32 (0.9Y39.7) 0.334
CI indicates confidence interval.

Operative Outcomes
Operative outcomes are illustrated in Table 3. Oronasal fistu-
las were identified in 6 (4.5%) patients, with 5 of the 6 occurring at
the soft palate-hard palate junction and the other in the midline soft
palate. Similarly, all but 1 of the ONFs occurred in patients with Veau
class IV clefts, and each patient had a different syndromic diagnosis.
Univariate analysis of factors associated with higher rates of ONFs
showed significantly higher risks for class III or IV cleft palate [odds FIGURE 2. Pittsburgh speech score by group.
ratio (OR), 47.5; P = 0.001] and 2-stage repair (OR, 17.3; P = 0.004)
(Table 4). However, adjusted multivariate regression demonstrated
that only Veau class IV cleft palate was predictive of ONF (OR, 25.8; 33% of patients were excluded due to incomplete speech assess-
ments, 21% due to age less than 5 years at assessment, and 18% due
P = 0.048) (Table 5).
to VPI surgery performed before palatoplasty or before age 5 years.
Speech was rated as competent in 60.5% of all patients, bor-
Speech Outcomes derline competent in 23.7%, and incompetent in 15.8%. Compared
Speech outcomes were assessed across all patients and were by diagnosis, Stickler patients demonstrated the best speech out-
compared by patient and operative characteristics (Table 6, Fig. 2); comes with 73.3% having a competent velopharyngeal mechanism,
additionally, history of airway management was evaluated in the whereas patients with 22q11.2DS fared the worst with no patients
sPRS subset. A total of 76 (58%) patients were included for speech achieving a competent VP mechanism, and only 50% a borderline-
analysis, with average age of 10.4 years (5Y21 years) at last assess- competent mechanism. Of all patients diagnosed with PRS after
ment. Reasons for exclusion are listed in Table 7. Approximately birth, 71.4% went on to achieve a competent velopharyngeal mechanism.

TABLE 6. Speech Factor Analysis

Speech Score Secondary VPI Surgery
Factor Subgroup Competent, % Borderline, % Incompetent, % P % Incidence P
Age at repair, mo G12 66.7 14.8 18.5 0.215 16.7 0.357
12Y18 65.7 22.9 11.4 7.4
918 35.7 42.9 21.4 13.3
Sex Male 57.5 22.5 20.0 0.552 12.1 1.000
Female 63.9 25.0 11.1 12.1
Staged CP repair Single-stage 56.1 24.6 19.3 0.199 13.3 0.354
Two-stage 72.2 22.2 5.6 6.1
Cleft type SMCP 20.0 40.0 40.0 0.285 16.7 0.447
I and II 61.5 23.1 15.4 13.8
III and IV 68.4 21.1 10.5 6.1
Surgeon Surgeon 1 75.0 20.5 4.5 0.002 7.7 0.182
Other 40.6 28.1 31.3 16.4
Hearing loss None 65.1 20.9 14.0 0.196 12.5 0.215
Mild-moderate 44.0 36.0 20.0 21.2
Speech delay None 67.3 21.8 10.9 0.213 13.2 0.588
Mild-moderate 40.0 33.3 26.7 11.5
Syndrome sPRS 71.4 20.0 8.6 0.17 13.6 0.779
Stickler 73.3 20.0 6.7 0.231 15.6 0.536
22q 0.0 50.0 50.0 0.0001 31.6 0.013
ONF No 61.4 21.4 17.1 0.326 12.7 1.000
Yes 50.0 50.0 0.0 0.0
CP indicates cleft palate; SMCP, submucosal cleft palate.

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Basta et al Annals of Plastic Surgery
TABLE 7. Excluded From Speech Analysis
n
Incomplete speech record 19
Age less than 5 y at evaluation 12
VPI surgery before speech evaluation 10
Severe global developmental delay 6
Severe hearing loss 4
Language barrier 2
Tracheostomy in place 3
Total 56
Speech assessments were grouped by age at assessment for each pa-
tient to evaluate trends over time (Fig. 3). The proportion of patients
with competent speech rose from 48.5% at 5-year assessment to
61.7% at 10-year assessment. In contrast, incidence of incompetent
speech dropped from 19.1% initially to 8.5% over the same period. Of
all patients included in speech assessment, 89.5% had 5-year assess-
ments, 81.6% had 8-year assessments, and 61.8% had assessments at
10 years.
Secondary velopharyngeal surgery for VPI was performed in
15 (11.4%) patients at an average age of 8.3 (3.2) years (Fig. 4).
Patients with 22q required secondary VPI surgery in 31.6% of cases,
significantly higher than both sPRS patients (13.6%) and Stickler
patients (15.6%) (P = 0.013).
Surgeon and syndromic diagnosis were both significantly asso-
ciated with speech score in univariate analysis (Table 6). Adjusted mul-
tivariate regression demonstrated that only a diagnosis of 22q11.2DS
was independently predictive of poorer speech score, with an OR of 7.5
for incompetent speech (P = 0.02) (Table 5). Similarly, only a diagnosis
of 22q was associated with need for secondary VPI surgery (OR, 4.75;
P = 0.013).
Several syndromes were well represented in this cohort, namely,
CHARGE (n = 10), ectrodactyly-ectodermal dysplasia (n = 7),
Goldenhar (n = 4), orodigital facial syndrome (n = 4), Kabuki (n = 4),
and Apert (n = 3). Notable findings in this diverse group of patients
included a high incidence of severe hearing loss in patients diagnosed
with CHARGE and Goldenhar. Similarly, those patients along with
patients diagnosed with Kabuki syndrome had later ages at initial cleft
palatoplasty compared to the rest of the cohort. Regarding outcomes,
patients with ectrodactyly-ectodermal dysplasia had generally excellent
speech outcomes, with 86% having competent speech. In contrast, no
FIGURE 3. Speech assessment over time.
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& Volume 73, Supplement 2, December 2014
FIGURE 4. Rate of secondary VPI surgery by group.
patients with Kabuki syndrome had competent speech and 1 patient
required secondary VPI surgery.
DISCUSSION
This study summarizes our experience with 132 patients with
45 different syndromes undergoing cleft palate repair during the last
3 decades, reporting on operative outcomes and long-term speech
function. Although there have been a number of studies that focus on
nonsyndromic PRS (nPRS) and a few on sPRS, there are few data on
outcomes for syndromic patients without PRS. Our results offer
several observations that merit further discussion.
Operative Outcomes
The overall ONF rate of 4.5% is acceptably low in this patient
population, and more than 80% of fistulas occurred at the soft palate-
hard palate junction in patients with type IV clefts. These results are
generally consistent with previous observations that patients with more
severe clefts and those with syndromic diagnosis tend to have higher
fistula rates.19 Patel et al10 reported an ONF rate of 6.3% overall in their
cohort, with a 10.3% rate in the sPRS subgroup. Our sPRS group
demonstrated a 2.3% rate of ONF. The tendency of fistulas to develop
at the junction of the primary and secondary palate is consistent with
previous reports as well, supporting the observation that this anatomic
border seems to be more vulnerable, particularly in wide clefts.20 Al-
though there was a lower risk of ONFs in patients who had 1-stage
repairs versus 2-stage palatoplasty, this association was abolished
when controlling for cleft type. This practice of 2-stage repair was
performed at our institution during early years of this experience, but is
no longer practiced.
Speech Outcomes
Despite the heterogeneity of our study cohort, speech outcomes
were generally consistent and satisfactory across patient populations.
The notable exception was speech competence in patients with
22q11.2DS. This group consistently failed to achieve competent
velopharyngeal mechanisms after palatoplasty and had significantly
higher rates of secondary VPI surgery. These findings are in agreement
with multiple previous studies documenting the poor speech prognosis
in this patient population.21Y23 As a group, 22q syndromic patients
often have overt or occult submucosal clefts that are noticed inadver-
tently as they undergo velopharyngeal surgery for VPI. As such, the
relative contribution of palatal clefting to speech dysfunction should be
considered in the context of other contributing characteristics of the 22q
syndrome such as generalized hypotonia. D-Antonio et al24 sugges-
ted that manipulating the palate via palatoplasty is less beneficial to
22q patients as compared to other patient populations and one should
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Annals of Plastic Surgery & Volume 73, Supplement 2, December 2014
perhaps reconsider palatoplasty in those with more severe clinical
phenotypes. At our institution, we typically delay submucosal palate
repair in these patients until speech emerges and use velopharyngeal
imaging to guide treatment, often proceeding directly to pharyngoplasty
due to severe velopharyngeal dysfunction.
A point of contention in the studies published to date is how
sPRS patients fare compared to nPRS patients with regard to speech
and need for secondary VPI surgery. Previously, Witt et al11 reported
that only 8% of sPRS patients went on to have VPI surgery compared
to 44% nPRS patients. More recently, de Buys Roessingh et al9
concluded no difference in speech outcomes between sPRS and
nPRS groups, with 23% of sPRS patients requiring VPI surgery
versus 36% requiring surgery in the nPRS group. These conclusions
are inconsistent with both the findings presented here and those in
our recently published cohort of nPRS patients, which found 6% of
patients to have incompetent speech mechanisms and an incidence of
secondary VPI surgery of 8.1%.18,25 This study’s results demonstrate
higher rates of VPI and secondary VPI surgery; however, these es-
timates may actually be lower than the true incidence. Specifically,
the greater comorbid burden in syndromic patients may leave pro-
viders or families reluctant to sign on for additional surgeries. This
assertion is exemplified in the discussion of de Buys Roessingh et al,
in which they state that, in actuality, secondary VPI surgery was
recommended in 46% of sPRS patients but only performed in 23%.
With such variation in the reported literature, it is difficult to make
definitive conclusions regarding outcomes in sPRS and nPRS patients.
However, it seems that syndromic patients tend to do worse regarding
speech outcomes, but the magnitude of the discrepancy is not as sub-
stantial as current literature suggests. Another promising observation
from this study was the trend toward improving speech function over
time. The most improvement occurred between the 5- and 8-year as-
sessments and speech scores seemed to stabilize around the 10-year
assessment. Taken together, this information is critical to relay to
concerned families regarding initial prognosis, expectations regarding
the potential need for additional surgeries to address speech, and the
natural history of speech function as the child grows.
Limitations
This study has notable limitations that must be considered. Al-
though a retrospective study is inherently prone to information bias, the
error is potentially amplified in this patient population. Already, there is
controversy surrounding the diagnostic criteria of PRS; similarly, the
natural history of sPRS versus nPRS remains unclear.16 Thus, it is
difficult to compare our results with those from studies previously
published, which may have used different diagnostic and/or exclusion
criteria. Furthermore, as there are 45 syndromes represented here, there
are perhaps unaccounted factors that distinctly affect each patient’s
clinical outcomes. Similarly, the significant proportion of patients ex-
cluded from speech analysis introduces potential selection bias, as most
of the patients excluded may have had poorer speech scores, and one
cannot estimate the outcomes in those patients lost to follow-up before
having formal speech evaluation at our cleft palate clinic. Finally, be-
cause we included patients during a 35-year period, there have been
inevitable changes in operative techniques and practice patterns, such
as staging cleft palate repair and performing primary pharyngoplasty
concurrently with palate repair, which may have affected our results.
CONCLUSIONS
Cleft palate is associated with numerous syndromes that can affect
long-term speech development. In our experience, operative outcomes
and complications in this group are comparable to nonsyndromic patients
with cleft palate, but there is greater risk for VPI in syndromic patients,
particularly patients diagnosed with 22q deletions, and diligent follow-up
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An Experience With Syndromic Cleft Palate Outcomes
is required to better assess need for additional interventions as well as
optimal timing for operative repair when deemed necessary.
REFERENCES
1. Venkatesh R. Syndromes and anomalies associated with cleft. Indian J Plast
Surg. 2009;42(suppl):S51YS55.
2. Bezuhly M, Fischbach S, Klaiman P, et al. Impact of 22q deletion syndrome on
speech outcomes following primary surgery for submucous cleft palate. Plast
Reconstr Surg. 2012;3:502eY510e.
3. Evans KN, Sie KC, Hopper RA, et al. Robin sequence: from diagnosis to
development of an effective management plan. Pediatrics. 2011;5:936Y948.
4. Upton S, Stadter CS, Landis P, et al. Speech characteristics in the Kabuki
syndrome. Am J Med Genet A. 2003;4:338Y341.
5. Berge SJ, Plath H, Van de Vondel PT, et al. Fetal cleft lip and palate: sono-
graphic diagnosis, chromosomal abnormalities, associated anomalies and
postnatal outcome in 70 fetuses. Ultrasound Obstet Gynecol. 2001;5:422Y431.
6. Kronwith SD, Quinn G, McDonald DM, et al. Stickler’s syndrome in the Cleft
Palate Clinic. J Pediatr Ophthalmol Strabismus. 1990;5:265Y267.
7. Meyerson MD, Foushee DR. Speech, language and hearing in Moebius syn-
drome: a study of 22 patients. Dev Med Child Neurol. 1978;3:357Y365.
8. Posnick JC, Ruiz RL. Treacher Collins syndrome: current evaluation, treat-
ment, and future directions. Cleft Palate Craniofac J. 2000;5:434.
9. de Buys Roessingh AS, Herzog G, Cherpillod J, et al. Speech prognosis and need
of pharyngeal flap for non syndromic vs syndromic Pierre Robin sequence.
J Pediatr Surg. 2008;4:668Y674.
10. Patel KB, Sullivan SR, Murthy AS, et al. Speech outcome after palatal repair in
nonsyndromic versus syndromic Robin sequence. Plast Reconstr Surg.
2012;4:578eY585e.
11. Witt PD, Myckatyn T, Marsh JL, et al. Need for velopharyngeal management
following palatoplasty: an outcome analysis of syndromic and nonsyndromic
patients with Robin sequence. Plast Reconstr Surg. 1997;6:1522Y1529; dis-
cussion 1530Y1534.
12. Furlow LT Jr. Cleft palate repair by double opposing Z-plasty. Plast Reconstr
Surg. 1986;6:724Y738.
13. Kirschner RE, LaRossa D. Cleft lip and palate. Otolaryngol Clin North Am.
2000;6:1191Y1215, v-vi.
14. Kirschner RE, Wang P, Jawad AF, et al. Cleft-palate repair by modified Furlow
double-opposing Z-plasty: the Children’s Hospital of Philadelphia experience.
Plast Reconstr Surg. 1999;7:1998Y2010; discussion 2011Y1994.
15. LaRossa D, Jackson OH, Kirschner RE, et al. The Children’s Hospital of
Philadelphia modification of the Furlow double-opposing z-palatoplasty: long-
term speech and growth results. Clin Plast Surg. 2004;2:243Y249.
16. Mackay DR. Controversies in the diagnosis and management of the Robin
sequence. J Craniofac Surg. 2011;2:415Y420.
17. McWilliams BJ, Randall P, LaRossa D, et al. Speech characteristics associated
with the Furlow palatoplasty as compared with other surgical techniques. Plast
Reconstr Surg. 1996;4:610Y619; discussion 620Y611.
18. Stransky C, Basta M, Solot C, et al. Do patients with Pierre Robin sequence
have worse outcomes after cleft palate surgery? Ann Plast Surg. 2013;71:
292Y296.
19. Phua YS, de Chalain T. Incidence of oronasal fistulae and velopharyngeal
insufficiency after cleft palate repair: an audit of 211 children born between
1990 and 2004. Cleft Palate Craniofac J. 2008;2:172Y178.
20. Sadhu P. Oronasal fistula in cleft palate surgery. Indian J Plast Surg. 2009;
42(suppl):S123YS128.
21. Scherer NJ, D’Antonio LL, Kalbfleisch JH. Early speech and language de-
velopment in children with velocardiofacial syndrome. Am J Med Genet.
1999;6:714Y723.
22. Swanson EW, Sullivan SR, Ridgway EB, et al. Speech outcomes following
pharyngeal flap in patients with velocardiofacial syndrome. Plast Reconstr
Surg. 2011;5:2045Y2053.
23. Widdershoven JCC, Stubenitsky BM, Breugem CC, et al. Outcome of
velopharyngoplasty in patients with velocardiofacial syndrome. Arch Otolaryngol
Head Neck Surg. 2008;11:1159Y1164.
24. D-Antonio LL, Davio M, Zoller K, et al. Results of Furlow Z-plasty in patients
with velocardiofacial syndrome. Plast Reconstr Surg. 2001;4:1077Y1079.
25. Jackson O, Stransky CA, Jawad AF, et al. The Children’s Hospital of Philadelphia
modification of the Furlow double-opposing Z-palatoplasty: 30-year experi-
ence and long-term speech outcomes. Plast Reconstr Surg. 2013;3:613Y622.
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