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Quality of life of patients with cleft lip and palate undergoing orthodontic treatment during early vs. late adolescence

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Quality of life of patients with cleft lip and palate undergoing orthodontic treatment during early vs. late adolescence

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Quality of Life of Patients with Cleft Lip
and Palate Undergoing Orthodontic
Treatment During Early vs. Late
Adolescence
By

Janice Sook Lee, DDS

A Dissertation Presented to the
Faculty of the USC Herman Ostrow School of Dentistry
UNIVERSITY OF SOUTHERN CALIFORNIA
in Partial Fulfillment of the
Requirements for the Degree
Master of Science
Craniofacial Biology
May 2020

ii

Acknowledgements

I would like to thank Dr. Stephen Yen for his guidance, patience, and understanding
throughout this challenging process.

Special thanks to Amarjit Dass who helped me maneuver through the protocol and portal,
Dr. Kevin Kaifeng Yin and Dr. Jane Lee who helped with the statistical analysis.

Finally, I would also like to thank my husband, my parents, my mother-in-law, and
friends who took turns watching my daughter and son to help me finish my thesis and
supported me throughout my orthodontic residency journey.

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TABLE OF CONTENTS

Acknowledgements ii
List of Tables iii
List of Figures iv
Abstract v
Introduction 1
Chapter 1: Background and Significance 4
a) Classification of birth defects 7
b) Embryology of cleft lip and palate 9
c) Mouse genetic studies 13
d) Prevalence and epidemiology 15
e) Human gene studies 18
f) Prenatal diagnosis 20
g) Classification of cleft lip and palate 21
h) Treatment of cleft lip and palate 25
i) Infant orthopedics 26
j) Maxilla and mandibular development and treatment in patients with cleft lip
and/or palate 31
k) LeFort I 32
l) Early maxillary protraction treatment for cleft lip and palate 37
m) Late maxillary protraction treatment for cleft lip and palate 38
n) Quality of life studies 40
Chapter 2: Materials and Methods 45
Chapter 3: Results 50
Chapter 4: Discussion 70
Chapter 5: Conclusion 75
References 76
Appendices 81
a) Appendix A: Sample SF-12 Questionnaire 83
b) Appendix B: Sample yQOL- FD Five Domain Questionnaire 85
c) Appendix C: Sample SF-12 Physical and Mental Health breakdown 86
d) Appendix D: Sample yQOL-R 87
e) Appendix E: yQOL-R Information Sheet 88
f) Tables with data 89
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List of Tables
Table 1. Theoretical recurrence risk (%) for cleft lip with or without cleft palate (Worley
et al., 2018). 14

Table 2. Genes with a role in non-syndromic CLP. GWA represents a Genome-Wide
Assocation, LD - Candidate Gene Association, L = Linkage, and M = Mutation
Detection (This table is a replication of Table 2 in [Dixon et al., 2011)]). 15

Table 3. Description of phenotypes and orofacial cleft variant genes (Miller et al., 2014). 15

Table 4. Basic cleft care of medical specialties timeline (Worley et al., 2018). 21

Table 5. SF-12 change in response per question for the Protraction and Surgical groups
at Pretreatment (T1) and at Maximal Correction (T2). 47

Table 6. SF-12 item and summary descriptive statistics of the Protraction Group at T1
and T2 (Wilcoxon signed rank test). 53

Table 7. SF-12 item and summary descriptive statistics for Surgery Group at T1 and T2
(Wilcoxon signed rank test). 58

Table 8. SF-12 item and summary descriptive statistics of Greek general non-cleft
population (Kontodimopoulos, 2007). 60

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List of Figures

Figure 1. Cranial developmental fields. 5
Figure 2. Cleft lip malformation. 6
Figure 3. Human embryo at 6 weeks gestation. 7
Figure 4. Human embryo at 9 weeks gestation. 8
Figure 5. Anatomy of palatogenesis and categories of palatal shelf defects. 10
Figure 6. Multifactorial model for inheritance of cleft lip and palate. 13
Figure 7. Kernahan’s striped-Y representation of cleft phenotype. 18
Figure 8. Types of clefts. 20
Figure 9. Unilateral CL repair with Millard technique. 23

Figure 10. Unilateral CL repair with Fisher technique. 24

Figure 11. Palate repair. 25

Figure 12. Measurement from external reference marker to nasion to orthodontic bracket. 29

Figure 13. Le Fort I osteotomy horizontal incision. 30

Figure 14. Le Fort I osteotomy horizontal osteotomy. 31

Figure 15. Le Fort I osteotomy maxillary down-fracture. 32

Figure 16. Frequency distribution of responses of the SF-12 (%) for Protraction group
at T1 (pretreatment). 54

Figure 17. Frequency distribution of responses of the SF-12 (%) for Protraction group
at T2. 55
Figure 18. Frequency distribution of responses of the SF-12 (%) for Surgery group at
T1 (pretreatment). 59
Figure 19. Frequency distribution of responses of the SF-12 (%) for Surgery group at T2. 60
Figure 20. Frequency distribution of responses of the SF-12 (%) for Non-Cleft Greek
Population. 61
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Figure 21. Pathway model illustrating for dimension Stigma of yQOL-FD
Questionnaire. 62
Figure 22. Pathway model illustrating for dimension Coping of yQOL-FD
Questionnaire. 63
Figure 23. Pathway model illustrating for dimension Negative Consequence of
yQOL-FD Questionnaire. 64
Figure 24. Pathway model illustrating for dimension Negative Self-Image of yQOL-FD
Questionnaire. 65
Figure 25. Pathway model illustrating for dimension Positive Consequence of yQOL-FD
Questionnaire. 66

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ABSTRACT
Introduction
Cleft lip and palate (CLP) is the most common craniofacial birth defect in humans. Adolescents
with facial differences are at higher risk for psychosocial difficulties that can affect their quality
of life (QoL). Little is known about the QoL of patient with CLP or whether a patient’s self-
perception changes at stages of treatment. We hypothesize improved QoL at maximal correction
of Cl III malocclusion relative to pretreatment.
Material and Methods
Patients with CLP undergoing either late maxillary protraction(n=50) or orthognathic
surgery(n=50) for Cl III malocclusion were given QoL questionnaires at two times points:
pretreatment (T1) and in the middle of treatment at maximal correction (T2) of malocclusion.
Validated Facial Differences Module of Youth Quality of Life (yQOL-FD) and 12-item Short-
Form Health Surveys (SF-12) were distributed to late maxillary protraction patients (11-14 years
old) and orthognathic surgery patients (16-21 years old) to assess QoL before treatment as a
baseline(T1) and in the middle of treatment(T2).
Results
There were few differences in answers between the two age groups and timepoints. The SF-12
results showed statistically significant decrease (p<.05) in Protraction participants in feeling that
they have a lot of energy all the time from T1 to T2. Protraction Group changes from T1 to T2
showed participants feeling less accomplished due to their physical health, more limited in the
kind of work due to their physical health, and had more energy at T1 than T2. The Surgery
participants showed a statistically significant increase (p<0.05) in feeling that that their physical
health or emotional problems interfered less with their social activities at T2, felt limited in the
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kind of work or other activities at T2, and pain interfered less with normal work at T2. Results
showed comparable or better responses from treatment groups relative to Non-Cleft populations.
Conclusion
The SF-12 and yQOL-FD results demonstrate unexpected stability in QoL from pretreatment to
maximal correction of Cl III malocclusion suggesting an adolescent’s self-esteem and evaluation
of health may be dependent on factors other than treatment interventions.

1
INTRODUCTION

Cleft lip with or without cleft palate (CL/P) is one of the most common craniofacial birth defects
in humans with reports as high as 1:1000 in Caucasians (higher in Asians and lower in African
American populations) with an occurrence of 1 in 700 live births (Dixon et al., 2011) and a
prevalence that varies depending on different racial and ethnic groups, geographic origin,
socioeconomic status, and environmental exposure (Dixon et al., 2011, see page 17). Due to the
high prevalence of this craniofacial anomaly, orthodontic treatment of CL/P has been a major
topic of interest to clinicians treating CL/P and to parents seeking care for children with CL/P;
however, treatment is often a challenge as patients with CL/P present with different anatomical
and physiological limitations that can potentially compromise treatment outcomes.

The general growth pattern in complete unilateral clefting is a shortening of the maxillary length
relative to the cranial base and shortening of the maxillary height relative to the anterior facial
height. Primary surgeries for CL/P have been associated with inhibition of maxillary sagittal and
vertical growth due to scar tissue in the palate. Maxillary collapse is often seen in antero-
posterior, vertical, and transverse directions, resulting in complete anterior or posterior crossbite
or class III malocclusion (Rygh, 1982). Although orthognathic surgery has been the gold
standard for treating severe class III malocclusion in patients with CL/P during late adolescence,
several protraction studies have been performed at earlier ages as an alternative form of
treatment for addressing the Class III malocclusion.

The facial malformation of CL/P is visible and therefore quality of life studies has been
completed to better understand the social implications associated with children with craniofacial
2

defects based on school age and deformity (Bhat, 2019). To date, there have been no studies on
quality of life in adolescent patients with CL/P undergoing treatment to correct a Cl III
malocclusion.

Although cleft lip and palate is a common birth defect, there are many questions that have not
been answered regarding treatment for children and adolescents with cleft lip and palate. This
study is part of a larger study to better understand whether orthopedic and surgical corrections
should be part of adolescent orthodontic treatment. In particular, this study looks at quality of
life data which represents an opportunity to examine how patients see themselves at different
ages and at different stages of treatment. The data may also provide clues as to why treatment
may be successful in one individual and not in another. The introduction is divided into different
sections that describe the cleft lip and palate birth defect and the treatment timetable. This
explanation is followed by a description and rationale for two types of treatment, late maxillary
protraction and orthognathic surgery for correcting Cl III malocclusion during
adolescence. Then, a description of the clinical trial is presented with an explanation of when
quality of life data is collected. This study compares the responses from patients and parents
collected at two different ages and follows them through the early stages of
treatment. Eventually, this data will be compared to later stages of treatment in a different study
when the treatment outcome is ascertained.

In order to better understand the psychosocial and behavioral aspects of adolescents with CL/P
undergoing treatment, the use of quality of life questionnaires and surveys were implemented.
The study addresses the impact of treatment to quality of life by looking at changes in patient
3

perspective on their general health, emotional health, mental health, and physical functioning at
two timepoints: pretreatment and maximal correction of malocclusion. If positive correlations of
treatment and quality of life could be ascertained, then the choice of treatment could be based on
improvement of quality of life. Additionally, certain patient profiles might be more compatible
with one type of treatment and be used to predict successful treatment.

The results of the study showed that the SF-12 and yQOL-FD questionnaire demonstrated
unexpected stability in adolescent quality of life from pretreatment to maximal correction of Cl
III malocclusion suggesting an adolescent’s self-esteem and evaluation of health may be
dependent on factors other than treatment intervention.

4

Background and Significance
Classification of birth defects.
Congenital birth defects are classified under four general types of developmental pathology that
can lead to structural defects: (1) malformation or poor formation of tissue, (2) deformation or
an altered mechanical force on tissue, (3) disruption or the result of a breakdown of normal
tissue, and lastly, (4) dysplasia or a lack of normal organization of cell tissue (Jones et al.,
2013).
Depending on the nature of the poor formation, malformation can be further broken down into
subcategories of incomplete morphogenesis, aberrant form, accessory tissue, and functional
defects. Within the subcategory of an incomplete morphogenesis malformation, Jones et al.
(2013) describes are nine existing subcategories with an example of each):
1. Lack of development: renal agenesis
2. Hypoplasia: micrognathia
3. Incomplete separation: cutaneous syndactyly
4. Incomplete closure: cleft palate
5. Incomplete septation: ventricular septal defect
6. In complete migration of mesoderm: exstrophy of the bladder
7. Incomplete rotation: malrotation of the gut
8. Incomplete resolution of early form: Meckel diverticulum
9. Persistence of earlier location: cryptochidism

A facial cleft is a type of malformation that tends to occur along the borders of embryonic
branchial processes and can result from an incomplete stage in the development of a facial
5

structure. The cleft defect can involve a variety of structures and tissues such as soft tissue,
muscle, bone, and teeth. The clinical presentation can vary in severity as the cleft defect is never
exactly the same between patients. Cleft lip refers to a defect in the closure of the lip, cleft palate
refers to a failure of the fusion of maxillary palatal shelves. Although the anatomy of cleft palate
and cleft lip and palate look similar with different extensions of the cleft, cleft palate alone is
genetically distinct from isolated cleft lip and palate.

Embryology of Cleft lip and Palate
According to (Kjaer, 2010), during normal fetal development, around the 28th gestational day,
neural crest cells migrate to different parts of the cranium and dentition and from the first
accumulation of neural crest cells, the jawbones and teeth develop (Kjaer, 2010). Neural crest
cells have the potential to develop into nerves, muscles, vessels, cartilage, and bone. There are
six main fields in fetal pathology: cerebellar and cervical spine (notochordal), theca, frontonasal,
maxillary, palatine, and mandibular (Figure 1).

Figure 1. Schematic of the different cranial fields. Top row, from left to right: frontonasal,
maxillary, and palatine fields. Bottom row, left: mandibular field, right: the cerebellar field.
Theca not shown. Image from: (Kjaer, 2010).
6

Cleft palate has been studied in terms of developmental fields such as the maxillary and palatine
fields. Specific areas or fields are prone to certain malformations (Figure 2). Cleft lip occurs due
to a malformation at the borderline between the frontonasal and maxillary fields with a frequency
of agenesis of dentition at the borderline between fields within the maxilla and mandible (i.e.
second premolar, lateral incisor, and lower central incisor) (Kjaer, 2010).

Figure 2. Yellow: frontonasal. Red: maxillary. Orange: palatine. Light and dark blue:
mandibular. Arrows indicate direction of cell migration. Cleft lip is located at the border between
frontonasal and maxillary fields (Kjaer, 2010).

Clefts of the lip and palate are congenital anomalies that result from an incomplete embryologic
process normally uniting in the formation of the face. Development of the human face begins in
the fourth week of embryogenesis with migrating neural crest cells that combine with the
mesoderm and epithelial cover to create the facial primordia (Jiang et al. 2006). In the 5th week
of gestation, the developing face consists of five prominences: the frontonasal process, a pair of
maxillary processes, and a pair of mandibular processes (Jiang et al. 2006). The two nasal pits
are formed from the migration of neural crest cells from the forebrain that split into the medial
and lateral tissue prominences. During the 6th week of gestation, the maxillary and medial nasal
7

processes grow into close approximation, facilitating their fusion into the lip (Figure 3) (Jiang et
al. 2006). The palatogenesis of the secondary palate begins to form after the primary palate at
approximately 8 weeks’ gestation. Outgrowths of the maxillary prominences, the palatal shelves,
of the first pharyngeal arch grow inferiorly. Around the 8th week of gestation, the primitive
tongue, located between the shelves, drops to take its mature shape and during the 9th week of
gestation, the palatal shelves begin to elevate above the tongue assuming a horizontal position
and grow toward the midline (Figure 4) (Kernahan and Stark, 1958). Complete fusion of the
secondary palate where the palatal shelves meet and fuse, is usually complete by the 12th week
of gestation.

Figure 3. Human embryo at 6 weeks gestation

8

Figure 4. Human embryo at 9 weeks gestation

The lip and palate represent the intersection of the frontonasal process and the maxillary process.
If an interruption of growth or fusion of the lateral maxillary prominence to the lateral and
medial nasal prominences on the left side of the embryo occurs during the 5th to 7th week of
gestation, the result is a complete left unilateral cleft of the primary palate (Zajac, 2017).
Similarly, a complete cleft of the secondary palate will occur during the 8th to 10th week of
gestation if there is an interruption in the fusion or growth of the palatal shelves in the midline
from the incisive foramen to the uvula. Although the embryology of CL/P and CP alone share a
common palatal component in development, the genetics of CL/P and CP are distinct as should
be thought as separate genetic entities. CL/P can occur as an isolated defect or as part of a
syndrome that can be associated with a minor or major malformations or multiple birth defects
(Zajac, 2017). Approximately 70% of CL/P and 50% of cleft palate (CP) only are considered
non-syndromic or isolated. The remaining syndromic cases represent syndromes that present
with other anomalies, some are part of loose associations of malformation with an unclear
genetic etiology, some are multifactorial with a combination of genetic and environmental
9

causes, some may be chromosomal anomalies that follow a Mendelian inheritance pattern, and
some can be linked to teratogenic effects (Dixon et al., 2011).

Mouse genetic studies
Chai and Maxson reported multiple genes that were found to be critical for the development of
the anterior region of the palate: Msx1, Bmp4, Bmp2, Fgf10, and Shox2. BMP and FGF
converge on Shh signaling in the epithelium to control the growth of the anterior region of the
palatal shelf (Chai and Maxson, 2006). Loss of Shox2 gene, which is exclusively expressed in
the anterior palatal mesenchyme, results in an incomplete cleft of the anterior hard palate. Chai
and Maxson proposed five categories for palatal shelf development defects that would result in
CP. The first is failure of palatal shelf formation, the most severe and rare of the defects, where
mutations in the gene Fgf2 result in complete cleft palate. The second occurs when there is a
fusion of the palatal shelf with the tongue or mandible, preventing palatal shelf elevation, thus
cleft palate (Chai and Maxson, 2006). Third is a failure of palatal shelf elevation associated with
genetic mutations. The fourth, and most common palatal defect, is a failure of the palatal shelves
to meet at the midline after elevation associated with a genetic mutation that leads to apoptotic
cells persisting at the midline, preventing normal fusion (Chai and Maxson, 2006). Lastly, in
fifth category, genetic mutations are associated with improper apoptosis of cells that prevents
normal fusion of the palate and persistence of the medial edge epithelium (Chai and Maxson,
2006) (Figure 5). It is evident that normal fusion of the lip and palate involves a complex and
intricate interaction of cellular signaling and failure may present in varying degrees of cleft.

10

Figure 5. Anatomy of palatogenesis and five categories of palatal shelf defects that result in cleft
palate. A: Mouse palatogenesis starts at embryonic day (E) 11.5. By E13.5, palatal shelves (P)
are on both sides of the tongue (T). B,C: Between E13.5 and E14.0, palatal shelves turn
horizontally above the tongue and face each other along the midline. D: At E14.5, palatal fusion
begins to take place. The arrow indicates the midline epithelial seam. n, nasal epithelium; o, oral
epithelium. E,F: From E15.5 to E16.5, palatal fusion is completed throughout the entire palate. P,
palatal shelf. Image from: (Chai and Maxson, 2006).

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Incidence and Epidemiology
According to the Centers for Disease Control and Prevention, about 1 in every 1,600 babies is
born with cleft lip and cleft palate (CLP) in the United States and universally affects 1:700 live
births with variability depending on geographic origin, racial and ethnic groups, environmental
and socioeconomic status (CDC) (Dixon et al., 2011). Asian and Native American populations
have the highest reported birth incidence rates at 1 in 500, while European-derived populations
have intermediate incidence rates of approximately 1 in 1,000 (Dixon et al., 2011). African-
derived populations have the lowest incidence rates at 1 in 2,500. Gender, laterality, and type of
CLP differ in frequency: clefts involving the lip are two times more common in males than
females, approximately 1:2 male to female ratio for clefts of palate only, and 2:1 ratio of left to
right sided clefts in unilateral cleft cases (Dixon et al., 2011). Men with CL/P tend to have a
more severe cleft than females (Seto-Salvia, 2014).

For patients with cleft lip and palate, it is important to separate out CLP from CP because the
genetic models and recurrence risks differ. Also, it is critical to separate out isolated forms of
clefting from syndromic forms because the inheritance pattern can be very different even though
the phenotypes may look similar. In syndromic clefting, there will be additional minor or major
malformations to the cleft defect. If there are no additional birth defects, then the CLP or CP are
considered isolated. Isolated cleft lip and palate is the most common form of clefting and
follows a multifactorial inheritance model that states that multiple genetic and environmental
factors contribute to clefting. When these factors accumulate in an individual patient so that
threshold is crossed, then a cleft lip or a cleft palate will develop during embryogenesis. This
model predicts that multiple genes, the genetic factors, contribute to clefting but how these
12

genetic factors operate during development is still a subject for research. Therefore, a patient
who does not have a cleft could also be carrying these genetic factors at a sub-threshold level.
An interaction of these genetic factors with the environmental factors could potentially cause the
factors to accumulate and cross the phenotype expression threshold. This model is a model of
exclusion that recognizes the importance of genetic and environmental factors that contribute to
clefting. It is not the model used to explain syndromic forms of clefting.
Multifactorial inheritance of CLP shows characteristics such as:
1. Each person has a liability for the disease and that liability represents a sum of
genetic and environmental liabilities
2. Multifactorial-threshold model is quantitative way to express liabilities. The
threshold model illustrates that persons with sufficient gene dosage and
environmental interaction will be above a threshold of expression and show cleft
lip. Persons with less will not show cleft lip. Figure _ is a graphic representation
of a multifactorial model with threshold.
3. Conditions, such as, CLP where differing dosages of polygenes show a specific
phenotype, the overall incidence will vary near relatives of those affected.
Assuming several genes are involved in CLP, the gene dosage is 1-5% relative to
a dominantly inherited trait that has a gene dosage of 50% (Hartsfield, 2010).
13

Figure 6. Multifactorial model for inheritance of cleft lip and palate.

In the multifactorial inheritance model, the genetic component to orofacial clefting is evident in
the increased recurrence rate among affected families and is based on factors including: the
number of affected individuals in the family, how closely related individuals are, and severity of
clefts (Worley et al., 2018) (Zajac, 2017). Table 1 demonstrates a breakdown of theoretic
recurrence risks for CL/P reporting a 2.1% heritability if one parent is affected. While Worley
reports a 3% risk of having a child with an orofacial cleft (Zajac, 2017) (Worley et al., 2018).
Both reports demonstrate the high heritability of CL/P though the transmission of isolated cleft
lip and palate does not follow a Mendelian inheritance pattern.

14

Table 1. Theoretical recurrence risk (%) for cleft lip with or without cleft palate (Worley et al.,
2018).

Multiple teratogens, the environmental factors in the multifactorial inheritance model, have been
linked to CLP, such as, smoking, pre-gestational and gestational diabetes, alcohol abuse, and the
use of anticonvulsants (Worley et al., 2018). Such teratogens can lead to orofacial clefts, as well
as, short stature, brain anomalies, and developmental delay (Watkins et al., 2014). Nutritional
deficiencies such as folate and vitamins B6 and B12 may also contribute to clefting and include
inadequate folate and vitamins B6 and B12 (Worley et al., 2018)

Human gene studies
According to the Murray’s group at the University of Iowa (Dixon et al., 2011), there are at least
eleven genes with a likely role or confirmed role in non-syndromic CL/P (Table 2). Additionally,
Miller’s group investigated genes that modulated a spectrum of phenotypes in patients with non-
syndromic cleft lip with or without cleft palate (NSCL/P) including dental anomalies, microform
cleft lip, and other orofacial cleft variations (Miller et al., 2014) (Table 3). The challenge in
understanding the genetic origin of clefting is determining how these multiple genes function
during development in terms of timing and signaling and how these genes might interact with the
environment. In addition, epigenetic control mechanisms may be superimposed over the
function of cleft-related genes.
15

Table 2. Genes with a role in non-syndromic CLP. GWA represents a Genome-Wide Assocation,
LD - Candidate Gene Association, L = Linkage, and M = Mutation Detection. (This table is a
replication of Table 2 in ((Dixon et al., 2011)).

Table 3. Description of phenotypes and orofacial cleft variant genes (Miller et al., 2014)
16

In addition to isolated cleft lip and palate or isolated cleft palate, there are over 400 syndromes
associated with cleft lip or cleft palate, 50% of which are due to Mendelian inheritance (Zajac,
2017) and chromosomal anomalies (Watkins et al., 2014). The most frequent cleft palate-related
deletion in humans is del(22)(q11.2) with an estimated prevalence of 1 in 4000 live births
(Watkins et al., 2014). Van der Woude syndrome is a cleft related syndrome that appears like
isolated CP or CL but is accompanied by a lip pit. Unlike isolated CP and CLP, this syndrome is
not based on multifactorial inheritance; instead, it is caused by a single gene mutation in the
IRF6 gene that follows an autosomal dominant Mendelian inheritance pattern (Watkins et al.,
2014). These examples illustrate how different genetic models can produce the same cleft lip or
cleft palate phenotype.

Prenatal Diagnosis
Although fetal genetic testing can be done using chorionic villi or even the blood from the
mother, prenatal diagnosis of orofacial clefts is usually performed by ultrasound imaging which
can visualize a cleft lip and occasionally a cleft palate during mouth opening. This early
diagnosis can assist in prenatal counseling and assist families in preparing for the birth of baby
with a cleft deformity and allow families to meet with the craniofacial team members before
birth and facilitate postpartum craniofacial evaluations (Worley, 2018). In the United States, an
anatomical ultrasound is performed between 18 to 20 weeks’ gestation. Detection rates have
been reported between 0%-70% in systematic reviews for detecting an orofacial cleft in low-risk
individuals. Prenatal ultrasonography detection is dependent on multiple factors such as
technician experience, gestational age, and laboratory proficiency (Worley, 2018). Three-
dimensional (3D) ultrasonography is shown to have better diagnostic accuracy than two-
dimensional studies and can detect CP with up to 100% sensitivity (Worley, 2018). The
17

technique for early diagnosis involves evaluating the frontal plane and any disruption of normal
midfacial architecture with an absence of the maxillary ridge normally seen slightly anterior and
inferior to the orbits (Berkowitz, 2006).

Classification of Cleft Lip and Palate
Classification of facial clefts are based on anatomy, embryologic origin and associated structural
deformities. The Kernahan and Stark classification is based on the incisive foramen as being the
intersection between the primary palate and the lateral segments of the secondary palate. In his
Y-stripe pictograph, the extent of the cleft from the lip to palate is described by filling in the
pictograph where the cleft extends. The Y- stripe pictograph allows unilateral vs. bilateral clefts
to be filled in with each arm representing a cleft that extends from lip to the incisive foramen.
Intuitively, the intraoral examination starts at the incisive foramen to determine the extent of the
cleft. The location of the clefts can be classified relative to the incisive foramen, an anatomical
landmark consistent with embryological development and demarcation of the primary and
secondary palates (Kernahan and Stark, 1958). The American Cleft Palate-Craniofacial
Association classifies clefts in three-groups: primary palate only(CL), secondary palate
only(CP), and both primary and secondary palates(CLP). The primary palate is an embryological
remnant of the frontonasal process and consists of the central portion of the lip and the
premaxilla, a wedge-shaped portion of the alveolar bone housing the four incisors, anterior to the
incisive foramen. In the non-cleft patient, the incisive foramen is an opening in the maxilla that
is normally for the passage for nerves and blood vessels and is anatomically marked by the
incisive papilla (Figure 7).

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Figure 7. Kernahan's striped-Y and the subsequent modifications serve as the predominant
system used in daily clinical practice. The striped-Y logo is a pictographic representation of the
cleft phenotype and served as a symbolic correlate of the Kernahan and Stark classification
system.

Embryologic fusion of the primary palate begins at the incisive foramen and proceeds anteriorly
outward toward the lip along the incisive suture lines. Similarly, the lateral segments fuses along
the mid-palatal raphae from the incisive foramen toward the uvula. Incomplete clefts represent
continuous tissues with the indentations that represent the start of a cleft deformity. Therefore,
the mildest form of a cleft lip is an indentation of the lip where the processes incompletely fused,
also called a forme fruste. The mildest form of a cleft palate is a bifid uvula. The mildest form of
an alveolar cleft is the alveolar notch, which is a cleft indentation of the alveolar ridge and is a
partial alveolar cleft. Teleologically, the cleft unzips from these positions. It should be noted
that a complete cleft of the primary palate represents missing tissue, missing soft tissue, missing
muscle of the lip, missing alveolar bone up to the incisive foramen and missing or malformed
teeth. The classification system of cleft lip and palate gives a rough picture of the extension of
the cleft along the lines of fusion but does not account for the three-dimensional position of the
cleft segments, the volume and types of missing tissue, and the facial asymmetry associated with
clefting. A conebeam CT is useful for diagnostic purposes and for analyzing the extent and
position of cleft segments. With a 3- dimensional image, it is possible to view how the cleft
19

segment tend to collapse into the void of the cleft space in all three planes of space. The plan for
reconstruction of a cleft involves reverse engineering the collapse of the segments back to its
uncollapsed position in the facial skeleton.

Clefts of the lip can be unilateral (right or left side) or bilateral and in rare cases, microform
where the underlying muscle is has a defect but not the overlying tissue (Figure 8). A complete
cleft of the primary palate has considerable effect on nasal anatomy. Because the premaxilla
forms the base of the nose, alveolar clefts can cause collapse of the alar cartilage and rim of the
nose.
20

Figure 8. Types of cleft. A. Illustrations of types of cleft lip and/or palate (CLP) a and e show
unilateral and bilateral clefts of the soft palate; b, c and d show degrees of unilateral cleft lip and
palate; f, g and h show degrees of bilateral cleft lip and palate. Clefts are indicated in purple. B.
Images of different types of clefts. CL, cleft lip; CP, cleft palate; CPO, cleft palate only (Dixon
et al., 2011)

21

Treatment of Cleft Lip and Palate
The American Cleft Palate-Craniofacial Association states the importance of multidisciplinary
treatment of CLP within the first few days of life and continues until adulthood. Due to the
frequency of concomitant abnormalities, an early evaluation is critical and additional
abnormalities should flag comprehensive genetic counseling (Worley, 2018). Often, patients
with CLP require multiple medical specialties and multidisciplinary care into early adulthood
(Table 4).

Table 4. Basic cleft care of medical specialties timeline (Worley et al., 2018).

22

Infants with cleft lip and palate require special bottles with gravity-flow nipples or crosscuts in
the nipple as these infants cannot generate suction due to the cleft openings between the nasal
and oral cavities. Complete clefts of the primary palate (lip and alveolus), especially in bilateral
complete clefts, may limit the ability for infants to obtain lip seal or nipple compression during
feeding (Zajac, 2017). In patients with CL/P, ear infections and secondary hearing loss are
common because the pressure-equalizing eustachian tube between the middle ear and the
posterior pharynx is malformed at the soft palate port. Speech problems can result from palatal
fistulas and velopharyngeal incompetence due to shortened palate that allows air escape during
speech, especially the formation of consonants when air pressure is needed. Children who adapt
to their anatomy will learn to compensate by using the epiglottis to stop the build of pressure
which produces distorted speech. Adequate air pressure cannot be generated to produce stop
consonants until the palate is repaired, which can delay babbling prior to repair. Studies have
shown that even after 4 to 6 months following palate repair, children can struggle with words
with stop consonants which may be related to universal conductive hearing loss in infants with
unrepaired cleft palate (Paradise et al., 1969). Given the prevalence of feeding difficulties,
affected newborns should be seen by a speech-language pathologist for evaluation and
counseling (Worley et al., 2018).

Infant Orthopedics

In order to assist surgeons with primary lip repair, early non-surgical cleft lip interventions like
preoperative lip taping in children with CLs and nasoalveolar molding (NAM) in patients with
wide unilateral or bilateral CL/P are used during neonatal periods to decrease cleft width,
improve nasal symmetry, and improve psychological outcomes (Worley et al., 2018). In the past,
23

a two-stage approach was used to treat a wide cleft lip, with lip adhesion surgery followed by
definitive repair. Lip repair surgery timing usually occurs at 3 months or follows the rule of 10’s:
10 weeks with infants at ideally 10lbs with hemoglobin levels at 10g/dL (rule of 10s) to avoid
airway difficulty (Worley et al., 2018). Although there are many surgery techniques used to
repair unilateral CL, most modern techniques use a back-cut and rotational and advancing flap
introduced by Millard or (Worley et al., 2018) (Figure 9) a triangular dissection and flap into the
cutaneous skin of the cleft side philtral column from the lateral lip as described by Fisher
(Worley et al., 2018) (Figure 10). The goals of unilateral and bilateral CL repair are a complete
orbicularis oris to create oral competence, symmetry, and cosmetic repair. The surgical
principles are to avoid straight line repair, use tension-free flaps and to repair each layer of soft
tissue and muscle.

Figure 9. Unilateral CL repair with Millard technique. (A) Surgical markings. (B) Flaps. (C)
Postoperative results (Worley et al., 2018).

24

Figure 10. Unilateral CL repair with Fisher technique. (A) Surgical markings. (B) Flaps. (C)
Postoperative results (Worley et al., 2018).

Repair of the cleft palate occurs between 9 and 12 months of age. At Children’s Hospital Los
Angeles (CHLA), the infant must weigh at least 20 pounds in order to safely undergo the
procedure. Considerations on surgical timing include how the surgery will impact the
oropharyngeal airway and hard palate dissection’ potential to disrupt maxillary growth. Surgical
techniques for CP are based on type of palatal involvement: soft palate, incomplete secondary
palate, or complete secondary palate. Bardach describes hard palate repair with axial
mucoperiosteal flaps based on the greater palatine arteries with soft palate repair using
repositioning of the levator muscle by either straight line repair, intravelar veloplasty, or double
opposing z-plasty (Bardach, 1991) (Figure 11). The size of the palatal opening and the need for
palatal closure for speech can dictate the choice of surgeries. More modern approaches involve
incisions that release tissue pedicles that can be moved to the midline (Van Langenbeck) or zig-
zag incisions that can be sutured to close the palatal opening (Furlow). In most techniques, the
25

pedicles are made by moving the soft tissue off the underlying bone leaving areas of raw bone
that will heal by granulation.

Figure 11. Palate repair. (A) Straight line palatoplasty surgical markings. (B) Straight line
palatoplasty outcome. (C) Double opposing Z-plasty surgical markings. (D) Double opposing Z-
plasty outcome. (E) Mucoperiosteal flaps for hard palate closure.

Dental anomalies are common in patients with craniofacial clefts. At the age of primary palate
repair, patients with CLP should begin seeing a pediatric dentist for dental care and developing a
dental evaluation (Suzuki, 1992). Studies by Rullo in dental anomalies have found the lateral
incisor absent in 40-70% of patients with cleft lip and palate on the cleft-side, 30% of patients
26

showed supernumerary teeth at the incisor region, 4.4% of patients had second premolar
agenesis, and 18.9% had ectopic dental eruption (Rullo et al., 2015). Rullo’s study stated no
significant difference in dental anomalies in patients with cleft lip, unilateral cleft lip and palate
and bilateral cleft lip and palate (Rullo et al., 2015).

Incomplete clefts of the primary palate typically require single surgery to correct muscular and
soft tissue defects; however, complete clefts of the primary palate extending to the alveolar ridge
require a second surgery to repair the bony defect to support the eruption of permanent dentition
(Zajac, 2017). The second surgery, a secondary bone graft, involves an alveolar bone graft
performed at approximately 6 to 12 years of age in mixed dentition (Zajac, 2017) (Worley et al.,
2018). The goal of an alveolar bone graft is to provide bony continuity between cleft segments,
provide bone for dental eruption and tooth movement, to close residual fistulas in the cleft defect
and to support the base of the nose as the graft will extend from the oral to the nasal cavity. In
the past, primary alveolar bone grafting was done in conjunction with primary lip or palate
surgeries but have been shown to stunt maxillary development leading to large Cl III
malocclusions. A less invasive variation is the bone-less graft, a gingivoperioplasty, is also done
with primary surgeries. Secondary alveolar bone grafting is done prior to canine eruption when
the canine root is ⅔ formed. The later age for grafting has less of an impact on maxillary growth
because over 80% of maxillary growth is complete at this age (Worley, 2018). Advocates of
early alveolar bone grafting believe that placing the segments in their corrected position with
NAM and allowing bone to form across the cleft site by periosteal stimulation may avoid future
secondary bone grafts and allow the maxillary segments to develop as a continuous maxilla
rather than as independent cleft segments that can collapse into the cleft void (Worley et al.,
2018). Primary alveolar bone grafting remains controversial due to the impact on maxillary
27

development in an anterio-posterior and vertical dimension, thus secondary alveolar bone
grafting is favored in craniofacial centers in the United States (Worley et al., 2018).

Studies done by Wood noted the incidence of maxillary collapse and pseudo-prognathism was
only 15% in children who had received early bone grafting and 66% in children who had
undergone late bone grafting (Wood, 1970).

Maxilla and Mandibular Development and Treatment in Patients with Cleft Lip and/or Palate
Studies from (Dahl, 1970 and Chierici et al., 1973) described an underdevelopment or posterior
positioning of the maxilla and mandible relative to the anterior cranial base, increased steepness
of the mandibular plane, and a more obtuse gonial angle. Additionally, in complete unilateral
clefting, there is also a shortening of the maxillary length relative to the cranial base. Maxillary
hypoplasia is often seen in patients with clefts partly due to the intrinsic deformity, partly from
the genetic inheritance of the facial growth pattern, but mainly the Class III malocclusion seen in
patients with CLP is from the tension created by scar tissue from multiple surgical interventions
(Chigurupati, 2012). In remote areas, adults with CLP who did not receive any surgical
interventions did not have Cl III malocclusion or underdevelopment of the maxilla (Mars, 1990).
During palate repair, raising the palatal mucoperiosteal flap affects hard palate growth centers
and leads to aberrations of maxillary growth (Liao, 2005). Excessive postoperative scar tissue
from undermined soft tissue and denuded palatal bone next to the pteryo-palatine-tuberosity,
inhibits forward growth of the maxilla. Liao found that the adverse effects of palate repair on
maxillary growth in patients with UCLP were restricted to the basal maxilla and reduced
posterior maxillary height was also a common finding (Liao, 2005). During longitudinal studies,
maxillary retrusion got progressively worse during pubertal growth (Ross, 1987). The degree of
28

hypoplasia and need for surgical intervention is shown to be higher as the severity of the cleft
increases. There are benefit-disadvantage tradeoffs with palate repair. If the palate repair is
done early, speech can be learned at the normal age. The disadvantage is the effect on maxillary
development, particularly when a large palatal opening requires large soft tissue pedicles across
the palate. The impact of a secondary alveolar bone graft on maxillary development decreases
with age as the maxilla develops earlier than the mandible. The totality of these factors leads to
a sagittal discrepancy with the maxilla in a retruded position (Rygh, 1982). Hard palate surgeries
with bone grafting has been seen to restrain maxillary sagittal and vertical growth due to scar
tissue in the palate. Regardless of the etiology, 25-80% of patients with CLP will require
orthognathic surgery at the end of adolescence to correct the maxillary deficiency and class III
malocclusion (Ross, 1987) (Rachmiel, 2007)

LeFort I
After adolescent growth is complete, the standard of care to correct maxillary hypoplasia is to
advance the maxillary bone and dentition using a LeFort I osteotomy in cleft patients. The
LeFort I osteotomy is a surgical repositioning of the maxilla in three planes of space and the
most common maxillary operation in orthognathic surgery (Fonseca, 2018). In1859, von
Langenbeck described the first maxillary osteotomy to treat nasopharyngeal polyps, then
LeFort’s classic description of the planes in a maxillary fracture were published in 1901.
Cheever was the first surgeon in the United States to use maxillary mobilization to relieve nasal
obstruction and in the 1920s, Wassmund the first to apply osteotomies at the LeFort I level for
the correction of mid-facial deformities (Fonseca, 2018). The most common indication for a
LeFort I osteotomy is maxillary hypoplasia with a class III skeletal pattern.

29

The LeFort I surgical technique begins with an external reference marker at nasion to facilitate
proper positioning of the maxilla in the vertical plane (Figure 12). Either internal, insertion of a
wire or bone fixation screw, or external markings, skin scribe, a suture or tape, are used for
preoperative measurements. Measurements include: midline, lateral maxillary landmarks,
maxillary dental midline, and bilateral canine cusp tips (Fonseca, 2018).

Figure 12. Measurements from an external reference marker at nasion to an orthodontic bracket
(Fonseca, 2018).

A horizontal incision is made at the gingivobuccal sulcus 5 to 10 mm superior to the
mucogingival junction from first molar to first molar. The mucosal cut is directed perpendicular
to the mucosal surface then redirected to be perpendicular to eh maxilla through the periosteum
and submucosal incision brought inferiorly near the midline (Figure 13).
30

Figure 13. A horizontal incision is made in the buccal vestibule 5-10mm superior to the
mucogingival junction (Fonseca, 2018).

The subperiosteal flap is raised using an elevator and the dissection continues along the anterior
maxilla to the infraorbital foramen, medially, exposing piriform rims, and laterally to the
zygomaticomaxillary suture. The dissection continues posterolaterally around the maxillary
buttress to the pterygomaxillary fissure. The periosteum around the anterior nasal spine is
released and an elevator is used to dissect the nasal mucosa from the piriform rim and maxillary
crest (Fonseca, 2018). The nasal mucosa is carefully separated from the caudal septum and then
directed posteriorly to lift the mucosa from the maxillary crest and then completed
superolaterally to the inferior turbinates. The maxillary osteotomy is made 5mm superior to the
canine and first molar root tips and a saw is used to make a horizontal osteotomy from the
maxillary tuberosity to the maxillary buttress to the piriform rim on each side. The osteotomy is
made parallel to the occlusal plane (Figure 14).
31

Figure 14. The horizontal osteotomy made from the maxillary tuberosity to the piriform rim
bilaterally (Fonseca, 2018).

In order to separate the maxilla from the pterygoid plates, an osteotome is inserted into the
pterygomaxillary fissure horizontal to the osteotomy and redirected to complete the disjunction
of the pterygoid hamulus. Another osteotome is used to complete the osteotomy of the posterior
maxillary wall to connect the horizontal osteotomy to the pterygoid fissure. A guarded lateral
nasal osteotome is made to the perpendicular plate of the palatine bone to define the posterior
extent of the osteotomy. The maxilla is then downfractured after the completion of the maxillary
osteotomies by using minimal downward pressure on each side of the maxilla with a bone hook
in the midline (Figure 15).
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Figure 15. Maxillary down-fracture (Fonseca, 2018).

The maxilla is mobilized for passive adaptation into a surgical splint and maxillary segmentation
to correct antero-posterior or transverse discrepancies is completed after the down-fracture.
Once, the maxilla is then positioned with surgical splint, condyles seated, the maxilla is fixated
with rigid fixation using titanium plates and intermaxillary fixation is completed with wires
(Fonseca, 2018). Segmentation of the maxilla can occur at the grafted cleft site during surgery.

Surgical planning for children with cleft lip and palate involve an integrated team approach and
collaboration with a cleft surgeon, orthodontist, speech pathologist, general dentist, and
otolaryngologist (Berkowitz, 2006). The timing of surgery is dependent on the completion of
maxillomandibular growth, level and alignment of the dentition orthodontically, and permanent
dentition. Wolford reports relapse when early jaw surgery is performed on cleft patients and the
need for revision orthognathic surgery after skeletal maturity (Wolford, 1992). Other risks of
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early jaw surgery include injury to developing permanent dentition and the introduction of
fibrous tissue and callus at the osteotomy site (Berkowitz, 2006).

The advantages of a surgical advancement of the upper jaw in patients with CLP is bony
correction, bite correction, and significant facial changes; however, surgery requires a lengthy
recovery period of 6 to 8 weeks, is costly, and can be associated with facial swelling, bruising,
hemorrhaging, paresthesia, and changes to or possible permanent loss of neurosensation
(Rachmiel, 2007) (Fonseca, 2018). Scarring from previous surgeries may increase the relapse
rate of maxillary advancement surgery and relapse rates have been reported to occur up to 80%
of the time (Rachmiel, 2007).

Early Maxillary Protraction Treatment for Cleft Lip and Palate
Around the 1970s, face mask treatment for early protraction was introduced by (Delaire et al,
1972) which had better anterior and vertical directed extraoral forces than previous chin-cup
treatment. Conventionally, maxillary correction was done mainly with rotation and expansion of
lateral segments with some lateral movement of the maxillary bones and labial tipping of upper
incisors using removable or fixed appliances and elastics (Rygh, 1982). The conventional
method failed to move the maxillary dentoalveolar arch and base. The use of elastics would only
cause forward expansion of the mandibular arch, often worsening the basal maxillo-mandibular
discrepancy, resulting in an edge to edge relationship of the dentition. Rygh described how
extraoral forces from protraction using a facemask with 300-700g of force can direct the
maxillary alveolar process forward and downward and established vertical closure of the incisors
after correction of the anterior crossbite. Rygh reported 6 to 7 years of age as the ideal time to
start orthopedic correction due to active sutural growth and early protraction in cleft lip and
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palate patients have found to yield better basal response than late treatment (Rygh, 1982). Lateral
expansion on patients with clefts influences the median suture in the interincisor area and
widening enhances surface bone deposition during the period of rapid growth. For this reason,
Rygh used a modified quad-helix, expanding for 2-3 months with 1-2 activations at 5-6 week
intervals prior to six months protraction using facemask. Rygh found 2mm of forward
displacement of the maxilla and 8mm of maxillary arch width expansion using his protocol on a
6 year-old patient with cleft palate (Rygh, 1982). One of the problems with Rygh’s early
protraction treatment protocols was the retreatment of most of his patients with orthognathic
surgery.

Late Maxillary Protraction for Cleft Lip and Palate
Depending on the age of the patient and extent of midfacial development, early midface
deficiencies can be addressed using midfacial orthopedic forces which increase the growth at the
circum-maxillary sutures. Facemask orthopedic therapy has proved to be effective for treating
growing Class III patients and Haas reported rapid palatal expansion (RPE) can produce slightly
forward movement of the maxilla and weaken circum-maxillary sutural forces facilitating the
orthopedic effect of the facemask (Cordasco et al., 2014). Cordasco’s systematic review
presented different clinical studies corroborating the effectiveness of skeletal changes using
facemask therapy in combination with the RPE. As a patient ages, there could be less movement
of the maxillary skeleton and less correction of Class III crossbite as sutures fuse. Late maxillary
protraction combined with sutural loosening corrects by a combination of maxillary
advancement, rotation of the occlusal plane, and dental compensation (Yen, 2011). Without
sutural loosening, So reported an average of only 1.3mm maxillary correction in Class III
patients with unilateral cleft lip and palate (So, 1996).
35

Liou and Tsai developed a 3-component protocol in 2005 for late maxillary protraction that
included: a 2-hinged rapid maxillary expander (RME), repetitive weekly protocol of Alternate
Rapid Maxillary Expansion and Constriction (Alt-RAMEC), and intraoral maxillary protraction
springs. The back and forth alternating expansion and constriction for 8 weeks is thought
to allow greater mobilization and protraction of the maxilla (Liou, 2005). In the Liou technique,
Alt-RAMEC procedure, the patients expanded for 7 consecutive days and then constricted for 7
consecutive days for 9 weeks. The mobilization of the maxilla has been shown to advance the
maxilla an average of 5.8mm (Liou, 2005).

At Children’s Hospital Los Angeles (CHLA), a modified late protraction protocol involved a
standard Hyrax rapid maxillary expander, used in place of Liou’s 2-hinged RME, with an 8-week
cycle of constriction and expansion on patients greater than 9 years old (Lious, 2005). After 8
weeks, CHLA patients were fitted for facemask and Class III elastics for 18 months to hold
facemask results while expansion and constriction were continued during protraction. After
4months, the RPE was removed and replaced with brackets for orthodontic alignment. If the
maxilla is mobilized, then, 3-4mm anterior crossbites were corrected to an edge-to-edge
relationship in cooperative patients and a Class II molar relationship with 3mm overjet was seen
at 6 weeks (Yen, 2011). The difference between the Liou and Yen protocol is the use of
conventional Hyrax expanders instead of a fan expander, and Cl III elastics plus reverse pull
facemask in place of the Cl III intraoral springs. The Liou springs tended to break easily so that
the protraction patients returned for replacement springs frequently. Also, the Liou springs could
produce anterior open bites. However, one of the key benefits of placing springs is the non-
compliance element of securely placed intraoral springs. Using the facemask protocol. the 24
36

patients with cleft lip and palate that underwent maxillary protraction did not require additional
orthognathic surgery or retreatment of the Class III malocclusion. The study concluded that
cooperation and a strict adherence to the protocol was critical to a successful outcome for
patients considering late maxillary protraction (Yen, 2011). The short and long -term
effectiveness of alternating expansion with constriction protraction treatment has been
documented in multiple studies (Liou, 2005) (Baccetti, 2000)

Quality of Life Studies
According to (Lorot - Marchand et al., 2015), CLP is a “social” pathology because of the impact
on a child’s facial appearance and speech. In their study using questionnaires, 69% of patients
with repaired CLP, 12 years and older, were reported to suffer from taunting and feeling
victimized at school and 84% of those cases were linked to the CLP defect. Teasing started in
primary school and reached its peak of aggressiveness in middle school and 42% of patients
reported bullying occurring at least once a day (Lorot - Marchand et al., 2015). Psychologically,
50% of patients reported sadness, 31% depression, and 47% of patients wanted to change their
face.

Adolescence is a life stage where self-awareness is affected by peer acceptance and social
interaction. Teasing or bullying may deeply damage this stage (Strauss et al., 2007) (Richman
1985) (Patrick, 2002). Adolescents going through this developmental period can be influenced
by social media and by television/movie portrayals of teenagers affecting their psychological
development and social relationships (Strauss, 2007) (Kapp-Simon, 1992).

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Cole expressed how youth with congenital or acquired facial differences are at higher risk for
psychosocial difficulties than non-affected peers because the face is critical in development and
social interactions (Cole, 1998) (Blakeny et al., 1993). Alterations in facial appearance have been
shown to affect a youth’s perception of themselves at an early age. According to Cole, multiple
studies have shown that a significant number of youths with facial differences experienced
adjustment problems secondary to social difficulties (Cole, 1998). According to (Heller, 1981),
the psychosocial impact of CLP is related to physical differences changes or difficulties with
speech or hearing. Without addressing these issues, psychosocial problems of withdrawal and
inhibition can persist into adolescence or adulthood. This data suggests that treatment alone may
fail to address problems with the pursuit of education, self-confidence, aggression, and
independence (Heller, 1981). At CHLA, a child psychologist is part of the team and is assessing
the coping skills of patients with cleft lip and palate.

Quality of life (QoL) is defined as “individuals’ perceptions of their position in life in the context
of the culture and value system in which they live, and in relation to their goals, expectations,
standards, and concerts.” A QoL survey is an instrument to evaluate the self-perception, assess
the outcome of interventions, and demonstrate the efficacy of the interventions in adolescents
with both congenital and acquired facial differences (Cole, 1998) (World Health Organization
Quality of Life Group, 1994) (Edwards, 2002). The QoL survey is becoming an important
measure of treatment effectiveness if one of the health goals is to improve quality of life.
Patients with cleft lip and palate have facial differences and limitations in eating and speech
which can affect social-emotional functioning and self-esteem resulting in lower health-related
38

quality of life (HRQOL). This study used two self-reported QoL instruments: The Facial
Differences Module of the Youth Quality of Life Instruments (yQOL-FD) and the SF-12 survey.

The yQOL-FD is a newly validated craniofacial QoL instrument designed for youth 11-18 years
of age with a range of craniofacial conditions that consists of 30 perceptual and 18 contextual
items in five domains: stigma, negative self-image, positive consequences, negative
consequences, and coping. The extensive 48 question yQOL-FD was used to measure the quality
of life in adolescents between the ages of 11-18 with craniofacial anomalies because studies have
shown alterations in facial appearance affect a youth’s perception of themselves at an early age
(Speltz et. al., 1997). The yQOL-FD consists of 30 perceptual and 18 contextual items across
five domains: (1) stigma, (2) negative self-image, (3) positive consequences, (4) negative
consequences, and (5) coping (Patrick et al., 2007). The questionnaire assesses the impact of
craniofacial anomalies on physical perceptions, coping strategies for negative, and insight into
how youth evaluate what it is like to live with their differences (Patrick et al., 2007). For
instance, in references to the positive consequence domain, there is a significant positive
association between “I feel I am a stronger person because of how my face looks” and overall
quality of life (Patrick et al., 2007). Negative domains are strongly associated with depression
and self-rated health and negative domain responses are indicative of negative perception. Youth
with higher Coping domain responses were correlated with positive consequences indicating
youth that have learned to cope with their facial differences reported greater positive
consequences with having a facial difference (Patrick et al., 2007). Patterns in yQOL-FD
domains can be used as a measure of responsiveness to treatment interventions.

39

The 12-item Short-Form Health Survey (SF-12) is based on a subset of questions from the 36-
item Short-Form Health Survey (SF-36) and has been used as an abridged form of the SF-36 to
assess the quality of life in a wide variety of clinical settings including diabetic retinopathy and
retinal disease (Mazhar, 2011) (Globe, 2002). The SF-12 assesses the two main dimensions of
quality of life: Physical (PCS) and Mental Health (MCS) and the two dimensions reflect eight
subdimensions: Physical Functioning (PF), Role Physical (RP), Bodily Pain (BP), General
Health (GP) Vitality (VT), Social Functioning (SF), Role-Emotional (RE), and Mental Health
(MH) (Ware, 1995). Information from all 12 items is used to build summary measures in the
physical and mental components (PCS-12 and MCS-12) (Gandek et al., 1998). The SF-12
responses are then coded and scale to evaluate the effect of intervention on patients (Maurischat,
2006).

An improvement in a patient’s quality of life has been a common justification for orthodontic
treatment. The effect of these interventions on life quality is increasingly being considered as a
criterion for evaluating effectiveness of treatment. Although patient perspectives can be
changed by their interactions with parents, surgeons, and clinicians, quality of life is inherently
subjective (Patrick et al., 2006) as seen through the eyes of the patient. Patients with cleft lip and
palate are challenged with facial differences and limitations in eating and speech which can
affect social-emotional functioning and self-esteem resulting in lower health-related quality of
life (HRQOL). The data obtained with the SF-12 and yQoL surveys will be used to address
whether quality of life is determined by orthodontic and surgical treatment. Currently, several
yQoL surveys for patients with cleft lip and palate are being developed at different universities
and institutions. Our decision to use the yQoL and SF-12 was based on brevity of form and
40

validation by previous studies. In the past, different yQoL forms were tested with patients at
CHLA. Although other yQoL instruments may be more comprehensive, it seemed unlikely that
patients would take more than 30 minutes to complete a survey for research purposes. The
decision to use the yQoL and SF-12 was based on discussions with patients on how likely they
would be willing to fill out these questionnaires at four times during treatment. Currently, in the
literature thus far, there are no yQoL studies that examine a population of adolescent patients
with cleft lip and palate who are undergoing orthodontic and surgical treatment for Cl III
malocclusion.

These questionnaires were used in this study to get a glimpse into the psyche and self-perception
of cleft lip and palate adolescents at two age points (11-14 and 16-21 years old) before treatment
has started. These two ages provide baseline information on what patients with cleft lip and
palate at early and late adolescence. The pre-treatment data(T1) also provides data for
comparison with future timepoints in the middle and end of treatments are thinking about.

The aim of the study was to utilize self-reporting yQOL-FD and SF-12 questionnaires to gain an
understanding of self-perception and a glimpse of the psyche of adolescents with cleft lip and
palate. Parent-reporting surveys: Child Behavior Checklist (CBCL) for Ages 6-18 and Adult
Behavior Checklist (ABCL) for Ages 18-59 are used to assess psychosocial and behavior aspects
of patient participants from the parent perspective and to compare parent vs. child responses. The
goal of administering the Quality of Life questionnaires at two time points is to evaluate a
participant’s responses at the start of treatment and mid-treatment, which may give insight on the
41

impact of treatment on a patient’s self-image and self-perception. This study is part of an
ongoing larger study which will examine the results after debanding. The quality of life surveys
represent a window of opportunity for collecting data on how patients with cleft lip and palate
are coping with their birth defects at different ages. and in the middle of treatment. This
information may also provide data on how orthopedic and surgical corrections benefit patients in
terms of quality of life.

MATERIALS AND METHODS

A prospective non-randomized cohort study was performed at the division of dentistry and
orthodontics of Children’s Hospital Los Angeles (CHLA)/University of Southern California and
at Seattle Children’s Hospital (SCH)/University of Washington on March 2015 using protocols
accepted by the International Review Board (IRB) on January 14, 2015. The quality of life data
is being collected as part of a study that compares treatment effectiveness of late maxillary
protraction and orthognathic surgery in patient with isolated cleft lip and palate. This study is
supported by a research grant from the NIDCR.

The study enrolled two groups of adolescent patients with isolated cleft lip and palate for the
purpose of evaluating orthopedic or surgical outcomes in correcting Cl III malocclusions.
Maxillary protraction with sutural loosening was attempted at ages 11 to 14 and LeFort I
maxillary advancement surgery was attempted at ages 16-21. Therefore, there is an age
difference between the treatment groups. The study could not be randomized because a previous
study showed that patients would not accept randomized assignment of orthognathic surgery and
wanted to be involved in the decision-making process (McIlvaine, 2014). The protraction cohort
42

consisted of patients with CL/Ps between 11 and 14 years of age who chose to undergo
orthodontic maxillary protraction (n=54) for correction of Cl III malocclusion. The surgical
cohort recruited patients with CL/P between 16 and 21 years of age (n=56) who have elected to
undergo LeFort I orthognathic surgery for the correction of Cl III malocclusion. Inclusion criteria
that applies to both groups of patient participants were:
1. Participants must be patients of record at CHLA
2. Diagnosed with isolated Cleft Lip and Palate with Cl III malocclusion at the time of
enrollment
3. Provide adequate treatment cooperation
4. Acceptable candidates for maxillary protraction or orthognathic surgery based on
dentition phase, skeletal maturity, and degree of malocclusion
5. Must not have a medical problem that prevents them from undergoing surgery or
protraction
6. Willing and able to keep data collection appointments
7. Participants must have adult life expectancy
8. Able to understand English or Spanish
9. Provide signed and dated Informed Consent or Assent prior to collection of data

At least one parent or legal guardian was asked to participate in surveys to answer questions
about his/her child’s health and family socioeconomic status. In order to participate in
interviews, parents signed informed consent documents and eligibility was as follows:
1. Able to understand English or Spanish
2. Provide written consent for study participation
3. Willing to comply with study procedures
43

4. Interested in participating during the entirety of the study through study visit four

Patients were presented with both surgical and protraction options during screening to correct Cl
III malocclusion. Participants undergoing the maxillary protraction procedure were advised to
come for the following study visits:
1. Visit 1: Pretreatment - up to 18 months prior to treatment
2. Visit 1a/1b: preparing for RPE cementation
3. Visit 2: RPE cementation
4. Visits 3-10: Treatment visits - approximately monthly
5. Visit 11: Maximal correction of Cl III malocclusion - approximately 6 to 7 months after
initial treatment
6. Visit 12: Debanding - approximately 1.5 to 2 years after initial treatment
7. Visit 13: 1-year post-debond - approximately 2.5 to 3 years after initial treatment

The protraction pre-treatment protocol involved obtaining informed consent, clinical records, and
dispensing study procedures, including questionnaires. Protraction patients were fitted for a rapid
palatal expander (RPE) for Cl III correction with sutural loosening by alternating weekly
expansion and constriction with a Hyrax expander, reverse pull face mask for night-time
protraction and Cl III elastics worn 24 hours a day to maintain protraction progress. The initial 6
weeks of clinic visitations were dedicated to fabricating and placing the RPE. The patient was
then instructed to turn the RPE device twice in the morning and twice in the evening for 1 week,
using an external key. After 1 week, the patients were instructed on how to reverse the direction
for maxillary constriction and begin a schedule of 1-week expansion alternating with 1 week of
constriction for 8 weeks. After 8 weeks of cyclical expansion and constriction, the patient began
44

maxillary protraction with Cl III elastics in combination with nightly reverse pull facemask for 5-
6 months.

Participants undergoing the orthognathic surgery procedure were advised to come for the
following study visits:
1. T1 Pretreatment - up to 18 months prior to pretreatment of presurgical
orthodontics. Complete T1 records were collected one month prior to surgery.
2. T2: Maximal Correction - approximately 6 weeks post-operative T2 records were
collected during splint removal.
3. T3: Debanding - T3 records were collected at debanding
4. T4- 1- year postoperative records are collected.

In the orthognathic surgery group, appliances were placed on the upper and lower dentition to
align, decompensate incisors, and coordinate teeth for proper fit prior to upper jaw advancement.
After approximately 6-18 months of alignment and pre-surgical preparations, new records were
taken for the surgical guide and work up. The patient then underwent LeFort I osteotomy surgery
for Cl III correction. In addition to the QoL surveys, parent-reported ABCL/CBCL surveys,
periodontal measurements, cost data and pre-and post-surgical conebeam CTs were collected.

In order to assess whether treatment is linked to improvement of quality of life, the yQOL-FD
was used to collect psychosocial and behavioral data from patients in both surgical and
protraction groups. The yQOL-FD given to adolescents with challenges helps conceptualize
negative or positive thoughts and feelings and measure self-perceptions (Patrick, 2002). 45
protraction patient participants between 11-14 years old and 29 surgical patient participants
45

between 16-21 years out of 51 participants successfully completed the SF-12 questionnaire for
both T1 pretreatment and T2 maximal correction time points.
For this thesis, survey responses were collected at timepoint T1, corresponding to participant’s
pre-treatment visit, and T2, at maximal correction of malocclusion, to better understand the
psychosocial profile of patient participants in different age groups undergoing orthodontic and
surgical treatments.

Patient consent was obtained in a three-step process, an introduction and explanation of the
study, a take-home packet with SF-12 and yQoL surveys for the patient to evaluate and a second
meeting with a coordinator to discuss remaining questions, to sign consents and initiate the form
completion. Study participants could decline participation in the study at any time during
treatment. All study subjects were paid a gift card of $25.00 to complete the SF-12 and yQoL
forms at each data collection time point. The original data were entered onto the forms with a
pen. Personal identifiers were removed so that the data could then be transferred into electronic
REDCap databases that protected patient privacy. For all research records, the data for the study
were replicated into research files so that research subjects are identified only by a research
subject number. Study data were stored in encrypted hard drives and server files. The QoL
survey data is in an ordinal format in the REDCap database that could be downloaded as excel
files for statistical analysis.

SPSS was used for descriptive statistics and statistical analysis. Wilcoxon signed ranked test was
used to evaluate statistical significance of the SF-12 scores. Results were considered statistically
significant at a p<0.05. Pathway models were created using multiple linear regression to evaluate
statistical significance for the five domains of the yQOL-FD questionnaire.
46

RESULTS
The results compare SF-12 and yQoL survey responses for a) untreated patients at different ages
(T1 for protraction and surgery), b) protraction patients before treatment with the same patients
in the middle of treatment (T1 vs. T2 for protraction), c) surgery patients before treatment with
the same patients in the middle of treatment (T1 vs. T2 surgery) and differences between surgery
and protraction patients in the middle of treatment (T2 protraction vs. T2 surgery). All
statistically significant differences in survey results are highlighted in yellow or marked in a red
box in the figures.

THE SF-12 SURVEY RESULTS
a. Comparison of Protraction Group T1 and Surgical Groups at T1 using SF-12
The aim of this part of the study was to utilize self-reporting yQOL-FD and SF-12 questionnaires
to gain an understanding of self-perception and a glimpse of the psyche of adolescents with cleft
lip and palate at two different ages.
An assessment of quality of life of participants at their baseline gives a sense of adolescents’
self-perception prior to any orthodontic treatment intervention. Additionally, comparing the two
separate groups at T1 reveals self-perception at two different age groups. According to Table 5,
both Protraction and Surgical groups perceived their general health as very good (Q1). In terms
of their Physical Health (PCS), both groups did not feel limited in moderate activities (Q2), not
limited in climbing several flights of stairs (Q3), did not accomplish less than they would like
(Q4), did not feel limited in activities (Q5), did not feel that pain interfered with their normal
work (Q8), and did feel that their physical health or emotional problems interfered with social
activities (Q12). In terms of their Mental Health (MCS), both groups did not feel that they
accomplished less as a result of any emotional problems (Q6), did not do work or activities less
47

carefully (Q7), felt calm and peaceful most of the time (Q9), and did not feel downhearted and
blue (Q11). Generally, the 11-14 and 16-21 age groups quality of life were similar. A difference
between the two groups was seen in terms of the perception of their Vitality component, where
the younger Protraction participants felt they had energy all of the time while the majority of the
older Surgery participants responded with feeling they had a lot of energy most of the time
during pretreatment (Q10) (Table 5). Both Protraction and Surgery groups responded
positively in Mental and Physical Health domains at pretreatment except the younger
Protraction participants felt they had more energy than the Surgery participants.

Table 5. SF-12 change in response per question for the Protraction and Surgical groups at
Pretreatment (T1) and at Maximal Correction (T2).

48

49

50

51

52

b) Comparison of Protraction group from pretreatment T1 to maximal correction T2 using SF-12
The aim of this part of the study is to determine whether quality of life changes with the patient’s
treatment. For protraction patients, maximal correction of malocclusion T2, after approximately
6-12 months of orthodontic treatment, the adolescent participants between 11-14 years old
completed the SF-12 questionnaire again. Comparing T1 results to T2 within the two groups
gives insight into how a 11-14 year old’s attitude or perspective may change after Cl III
correction. In terms of their Physical Health (PCS), there was no significant change in their
perception of general health (Q1), feeling limited in moderate activities (Q2), feeling limited in
climbing several flights of stairs (Q3), feeling that they accomplished less (Q4), feeling limited
in work (Q5), or pain interfering with their normal work (Q8). Looking at their Mental Health
(MCS) component, the Protraction group, there was no significant change in feeling like they
accomplished less as a result of any emotional problems (Q6), doing work as carefully as usual
(Q7), or their physical health or emotional problems interfered with social activities (Q12) from
T1 to T2. Participants did show a change in Vitality (VH) and reported less energy (Q10) at T2
relative to T1 (Table 5).

The physical and cosmetic change of malocclusion after one year was not linked to an
improvement in quality of life for young adolescents; instead, the majority of physical and
emotional components remained constant with a reported decrease in vitality/energy. Two
components of PCS and one component of MCS showed a statistically significant change when
looking at the change in the frequency of individual responses of the SF-12 from T1 to T2,: the
frequency of not feeling less accomplished as a result of their physical health increased from
84.4% at T1 to 100% at T2, the frequency of not feeling limited to the kind of work increased
77.8% to 97.8%, and the frequency of feeling that they had energy all the time decreased from
53

53.3% to 28.9% (Table 6). When assessing QoL there were few changes in the Protraction
group from pretreatment to maximal correction of malocclusion. The only change
was positive for not feeling less accomplished (physically), not limited in their
work/activities, and a negative change for having less energy.

Table 6. SF-12 item and summary descriptive statistics of the Protraction Group at T1 and T2
(Wilcoxon signed rank test).

*1) Excellent; 2) Very good; 3) Good; 4) Fair; 5) Poor.
**1) Yes, limited a lot; 2) Yes, limited a little; 3) No, not limited at all.
***1) Yes; 2) No.
****1) Not at all; 2) A little bit; 3) Moderately; 4) Quite a bit; 5) Extremely.
*****1) All of the time; 2) Most of the time; 3) Good bit of the time; 4) Some of the time; 5) A little of the time; 6) None of the
time.

* = statistically significant (p<0.05)

54

*1) Excellent; 2) Very good; 3) Good; 4) Fair; 5) Poor.
**1) Yes, limited a lot; 2) Yes, limited a little; 3) No, not limited at all.
***1) Yes; 2) No.
****1) Not at all; 2) A little bit; 3) Moderately; 4) Quite a bit; 5) Extremely.
*****1) All of the time; 2) Most of the time; 3) Good bit of the time; 4) Some of the time; 5) A little of the time; 6) None of the
time.
Figure 16. Frequency distribution of responses of the SF-12 (%) for Protraction group at T1.

22.2
8.9
13.3
15.6
22.2
11.1
13.3
68.9
31.1
53.3
37.8
24.4
20
84.4
77.8
88.9
86.7
22.2
48.9
40
4.4
4.4
33.3
66.7
66.7
4.4
13.3
4.4
2.2
6.7
4.4
4.4
2.2
11.1
8.9
2.2
26.7
11.1
57.8
73.3
0 10 20 30 40 50 60 70 80 90 100
1. (GH) In general, would you say your health is*
2. (PF) Moderate activities**
3. (PF) Climbing SEVERAL flights of stairs**
4. (RP) Accomplished less (physical)***
5. (PF) Limited in the kind of activities***
6. (RE) Accomplished less (emotional)***
7. (RE) Didn't do activities as carefully as usual***
8. (BP) Pain interferes with normal work****
9. (MH) Felt calm and peaceful*****
10. (VT) Have a lot of energy*****
11. (MH) Felt downhearted and blue*****
12. (PF) Health interferes with social time*****
Protraction Group at T1 Distribution (%)
Level_1 Level_2 Level_3 Level_4 Level_5 Level_6
55

*1) Excellent; 2) Very good; 3) Good; 4) Fair; 5) Poor.
**1) Yes, limited a lot; 2) Yes, limited a little; 3) No, not limited at all.
***1) Yes; 2) No.
****1) Not at all; 2) A little bit; 3) Moderately; 4) Quite a bit; 5) Extremely.
*****1) All of the time; 2) Most of the time; 3) Good bit of the time; 4) Some of the time; 5) A little of the time; 6) None of the
time.
Figure 17. Frequency distribution of responses of the SF-12 (%) for Protraction group at T2.

c) Comparison of Surgery group from pretreatment T1 to maximal correction T2 using SF-12
The aim of this study was to assess changes in quality of life before and immediately after
surgery. At maximal correction of malocclusion T2, after orthodontic treatment and orthognathic
surgery, the adolescent participants between 16-21 years old completed the SF-12 questionnaire
again. At time point T2, Surgery participants just completed orthognathic surgery and recently
had their surgical splint removed. In both components, Physical Health (PCS) and Mental
Health (MCS), responses from T1 and T2 remained relatively constant. In time point T1 and T2,
Surgery participants reported their general health as very good (Q1), not limited in moderate
activities (Q2) or climbing several flights of stairs (Q3), did not feel that they accomplished less
22.2
11.1
6.7
2.2
8.9
11.1
68.9
15.6
28.9
4.4
51.1
13.3
13.3
100
97.8
91.1
88.9
20
57.8
53.3
2.2
22.2
75.6
80
8.9
11.1
11.1
4.4
4.4
2.2
13.3
2.2
8.9
4.4
2.2
2.2
40
20
2.2
44.4
71.1
0 10 20 30 40 50 60 70 80 90 100
1. (GH) In general, would you say your health is*
2. (PF) Moderate activities**
3. (PF) Climbing SEVERAL flights of stairs**
4. (RP) Accomplished less (physical)***
5. (PF) Limited in the kind of activities***
6. (RE) Accomplished less (emotional)***
7. (RE) Didn't do activities as carefully as usual***
8. (BP) Pain interferes with normal work****
9. (MH) Felt calm and peaceful*****
10. (VT) Have a lot of energy*****
11. (MH) Felt downhearted and blue*****
12. (PF) Health interferes with social time*****
Protraction Group at T2 Distribution (%)
Level_1 Level_2 Level_3 Level_4 Level_5 Level_6
56

as a result of their physical health (Q4), did not feel limited in the kind of work or activities as a
result of their physical health (Q5), did not that they accomplished less as a result of any
emotional problems (Q6), their emotional problems did not affect how carefully they did work or
other activities (Q7), did not feel that pain interfered with normal work (Q8), felt calm and
peaceful most of the time (Q9), had a lot of energy most of the time (Q10), did not feel
downhearted and blue (Q11), and physical health or emotional problems did not interfere with
social activities (Q12)(Table 5). Three components of PCS showed a statistically significant
change when looking at the change in the frequency of individual responses of the SF-12 from
T1 to T2,: the frequency of not feeling limited in the kind of work decreased from 93.1% to
75.6%, pain not interfering with normal work decreased from 79.3% to 62.2%, and the frequency
of not feeling that their physical health or emotional problems interfered with social activities
increased from 58.6% to 64.4% (Table 7). Surprisingly, the Mental and Physical Health
components remained fairly stable before and after surgery except for a negative change of
feeling more limited in work/activities, pain interfered more from T1 to T2, and a positive
change in perspective of their physical or emotional status interfering with their social life.

d. Comparison of Protraction Group T2 and Surgical Groups at T2 using SF-12
This comparison compares how patients responded mid-treatment after surgical and non-surgical
treatment. At maximal correction T2, both groups have aged at least one year since pretreatment
and changes in responses could elucidate the self-perception and quality of life of the protraction
protocol relative to orthognathic surgery to correct Cl III malocclusion. In both components,
Physical Health (PCS) and Mental Health (MCS), responses from the Protraction and Surgery
groups in time point T2 remained relatively constant. Participants reported their general health as
57

very good (Q1), not limited in moderate activities (Q2) or climbing several flights of stairs (Q3),
did not feel that they accomplished less as a result of their physical health (Q4), did not feel
limited in the kind of work or activities as a result of their physical health (Q5), did not that they
accomplished less as a result of any emotional problems (Q6), their emotional problems did not
affect how carefully they did work or other activities (Q7), did not feel that pain interfered with
normal work (Q8), felt calm and peaceful most of the time (Q9), had a lot of energy most of the
time (Q10), did not feel downhearted and blue (Q11), and physical health or emotional problems
did not interfere with social activities (Q12)(Table 5). When assessing QoL changes of the
Protraction and Surgery group at maximal correction T2, most results assessing Physical
and Mental Health components showed similar and consistent responses.

58

Table 7. SF-12 item and summary descriptive statistics for Surgery Group at T1 and T2
(Wilcoxon signed rank test).

*1) Excellent; 2) Very good; 3) Good; 4) Fair; 5) Poor.
**1) Yes, limited a lot; 2) Yes, limited a little; 3) No, not limited at all.
***1) Yes; 2) No.
****1) Not at all; 2) A little bit; 3) Moderately; 4) Quite a bit; 5) Extremely.
*****1) All of the time; 2) Most of the time; 3) Good bit of the time; 4) Some of the time; 5) A little of the time; 6) None of the
time.

* = Statistically significant (p<0.05)

59

*1) Excellent; 2) Very good; 3) Good; 4) Fair; 5) Poor.
**1) Yes, limited a lot; 2) Yes, limited a little; 3) No, not limited at all.
***1) Yes; 2) No.
****1) Not at all; 2) A little bit; 3) Moderately; 4) Quite a bit; 5) Extremely.
*****1) All of the time; 2) Most of the time; 3) Good bit of the time; 4) Some of the time; 5) A little of the time; 6) None of the
time.
Figure 18. Frequency distribution of responses of the SF-12 (%) for Surgery group at T1.

34.5
17.2
17.2
3.4
6.9
13.8
17.2
79.3
27.6
24.1
44.8
13.8
17.2
96.6
93.1
86.2
82.8
20.7
34.5
41.4
3.4
3.4
20.7
69
65.5
24.1
17.2
6.9
3.4
6.9
10.3
20.7
3.4
6.9
6.9
17.2
31
51.7
58.6
0 10 20 30 40 50 60 70 80 90 100
1. (GH) In general, would you say your health is*
2. (PF) Moderate activities**
3. (PF) Climbing SEVERAL flights of stairs**
4. (RP) Accomplished less (physical)***
5. (PF) Limited in the kind of activities***
6. (RE) Accomplished less (emotional)***
7. (RE) Didn't do activities as carefully as usual***
8. (BP) Pain interferes with normal work****
9. (MH) Felt calm and peaceful*****
10. (VT) Have a lot of energy*****
11. (MH) Felt downhearted and blue*****
12. (PF) Health interferes with social time*****
Surgery Group at T1 Distribution (%)
Level_1 Level_2 Level_3 Level_4 Level_5 Level_6
60

*1) Excellent; 2) Very good; 3) Good; 4) Fair; 5) Poor.
**1) Yes, limited a lot; 2) Yes, limited a little; 3) No, not limited at all.
***1) Yes; 2) No.
****1) Not at all; 2) A little bit; 3) Moderately; 4) Quite a bit; 5) Extremely.
*****1) All of the time; 2) Most of the time; 3) Good bit of the time; 4) Some of the time; 5) A little of the time; 6) None of the
time.
Figure 19. Frequency distribution of responses of the SF-12 (%) for Surgery group at T2.

Table 8. SF-12 item and summary descriptive statistics of Greek general non-cleft population
(Kontodimopoulos, 2007).

1Items were recoded to reflect higher scores to greater quality of life.

34.5
17.2
13.3
13.3
24.4
11.1
17.8
62.2
24.4
20
4.4
48.3
13.8
13.3
86.7
75.6
88.9
82.2
28.9
48.9
40
4.4
2.2
17.2
69
73.3
4.4
8.9
15.6
2.2
4.4
4.4
13.3
17.8
17.8
4.4
4.4
6.7
33.3
20
42.2
64.4
0 10 20 30 40 50 60 70 80 90 100
1. (GH) In general, would you say your health is*
2. (PF) Moderate activities**
3. (PF) Climbing SEVERAL flights of stairs**
4. (RP) Accomplished less (physical)***
5. (PF) Limited in the kind of activities***
6. (RE) Accomplished less (emotional)***
7. (RE) Didn't do activities as carefully as usual***
8. (BP) Pain interferes with normal work****
9. (MH) Felt calm and peaceful*****
10. (VT) Have a lot of energy*****
11. (MH) Felt downhearted and blue*****
12. (PF) Health interferes with social time*****
Sugery Group at T2 Distribution (%)
Level_1 Level_2 Level_3 Level_4 Level_5 Level_6
61

*1) Excellent; 2) Very good; 3) Good; 4) Fair; 5) Poor.
**1) Yes, limited a lot; 2) Yes, limited a little; 3) No, not limited at all.
***1) Yes; 2) No.
****1) Not at all; 2) A little bit; 3) Moderately; 4) Quite a bit; 5) Extremely.
*****1) All of the time; 2) Most of the time; 3) Good bit of the time; 4) Some of the time; 5) A little of the time; 6) None of the
time.
Questions 1, 8, 9, and 10 were decoded to replicate original questionnaire.
Figure 20. Frequency distribution of responses of the SF-12 (%) for Non-Cleft Greek
Population.

THE yQOL-FD RESULTS
Previous studies have shown that youth with congenital facial differences reported lower QoL
than youth without facial differences (Topolski et al., 2005). The yQOL-FD utilizes five domains
(Stigma, Coping, Negative Consequence, Negative Self-Image, and Positive Consequence) to
better understand the impact of orthodontic intervention on adolescents and how an intervention
may improve their QoL. The yQOL data is presented by domain for the different
comparisons.
14.2
10.1
13.5
20.4
18.4
20.2
16
66.3
8
16
1.6
3.8
26.8
15.7
18.5
79.6
81.6
79.8
84
16.2
26.9
30.9
5.9
7.7
33.2
74.2
68
7.2
30.4
24.9
9.7
13.3
19.9
7.3
20.6
15.6
23.5
19.5
5.9
3
11.8
9.7
34.1
55.7
2.3
2.9
25.2
0 10 20 30 40 50 60 70 80 90 100
1. In general, would you say your health is*
2. Moderate activities**
3. Climbing SEVERAL flights of stairs**
4. Accomplished less (physical)***
5. Limited in the kind of activities***
6. Accomplished less (emotional)***
7. Didn't do activities as carefully as usual***
8. Pain interferes with normal work****
9. Felt calm and peaceful*****
10. Have a lot of energy*****
11. Felt downhearted and blue*****
12. Health interferes with social time*****
Greek Non-Cleft Population SF-12 Distribution (%)
Level_1 Level_2 Level_3 Level_4 Level_5 Level_6
62

Stigma
In the Stigma dimension of the yQOL-FD questionnaire, there was no statistically significant
difference between timepoints T1 and T2 or between the two groups (p>0.05). Youth
participants in both groups did not believe they were stared at more because of their face (Q20),
did not feel that people thought they were more or less stupid (Q28), did not feel more or less
uncomfortable (Q29), did not feel a change in finding friends (Q32), did not feel that their
friends were more or less embarrassed to be seen with them (Q36), that they were judged more
or less for their facial difference (Q39), that people had a harder or easier time seeing who they
really are (Q40), more or less difficult in getting a girlfriend or boyfriend (Q41), that they needed
to prove themselves more or less to other people (Q43), and like they fit in with other people
more or less because of how their face looks from T1 to T2 (Q47) (Figure 21) (see Appendix).

Figure 21. Pathway model illustrating no statistical significance (p>0.05) for dimension Stigma
of yQOL-FD between timepoints T1 and T2 and between Protraction and Surgery groups.

Coping
In the Coping dimension of the yQOL-FD questionnaire, there was no statistically significant
difference between timepoints T1 and T2 or between the two groups (p>0.05). Youth
participants in both groups did not feel that they had to learn to deal with people teasing them
more or less because of how their face looks (Q22), did not feel they had to get used to people
63

making fun of how their face looks (Q24), felt no change in having to learn to live with people
being curious about how their face looks (Q26), felt no change in trying not to pay attention to
other people when they said things about their face (Q33) from T1 to T2 (Figure 22) (see
Appendix).

Figure 22. Pathway model illustrating no statistical significance (p>0.05) for dimension Coping
of yQOL-FD between timepoints T1 and T2 and between Protraction and Surgery groups.

Negative Consequence
In the Negative Consequence dimension of the yQOL-FD questionnaire, there was no
statistically significant difference between timepoints T1 and T2 (p>0.05); however, there was a
statistical difference between the Protraction and Surgery groups. When the timepoints were
controlled, the Surgery Group had a higher rating than the Protraction group; thus, adolescent
participants between 16 and 21 years that underwent orthognathic surgery felt like they had more
anger inside than most people know (Q21), were angrier when grown-ups stared at them because
of how their face looks (Q25), felt more self-conscious because of how their face looks (30),
looking like everyone else is more important (Q34), and felt more frustrated about how their face
looks (Q35) than their Protraction counterparts (Figure 23) (see Appendix).
64

* = statistically significant
Figure 23. Pathway model illustrating no statistical significance (p>0.05) for dimension Coping
of yQOL-FD between timepoints T1 and T2 but statistical significance between Protraction and
Surgery groups.

Negative Self-Image
In the Negative Self-Image dimension of the yQOL-FD questionnaire, there was no statistically
significant difference between timepoints T1 and T2 (p>0.05); however, there was a statistical
difference between the Protraction and Surgery groups. When the timepoints were controlled, the
Surgery Group had a higher rating than Protraction group; thus, adolescent participants between
16 and 21 years that underwent orthognathic surgery scored higher in questions geared toward
esthetic perception. The Surgery participants felt that they had no control over their life (Q31),
having facial differences decreased their chance of success (Q38), felt like it was harder to walk
around in pubic (Q42), felt like they could get away with doing less (Q44), disliked looking at
pictures of themselves (Q45), and avoided looking in the mirror because of how their face looked
(Q48) than their Protraction counterparts (Figure 24) (see Appendix).
65

* = Statistically significant

Figure 24. Pathway model illustrating no statistical significance (p>0.05) for dimension
Negative Self-Image of yQOL-FD between timepoints T1 and T2 but statistical significance
between Protraction and Surgery groups.

Positive Consequence
In the Positive Consequence dimension of the yQOL-FD questionnaire, there was no statistically
significant difference between timepoints T1 and T2 (p>0.05); however, there was a statistical
difference between the Protraction and Surgery groups. When the timepoints were controlled,
generally, the Surgery group had a higher rating and a positive association between their physical
appearance and craniofacial anomaly (see Appendix); thus, the adolescent participants between
16 and 21 years felt that they were more in touch with other people’s feelings (Q19), more
accepting of other people (Q23), felt they were a stronger person (Q27), and their facial
difference helped to accept other people for who they were (Q46) due to their facial differences
than their Surgery group counterparts (Figure 25) (see Appendix).

66

*= Statistically significant

Figure 25. Pathway model illustrating no statistical significance (p>0.05) for dimension Positive
Consequence of yQOL-FD between timepoints T1 and T2 but statistical significance between
Protraction and Surgery groups.

DISCUSSION

The objective of this study was to better understand how treatment outcomes affect the quality of
life of patients with cleft lip and palate from pretreatment to maximal correction of malocclusion.
The goal of treating cleft lip and/or palate is to improve appearance, speech, and psychosocial
function; however, mainly objective measures have been used in the past (Klassen et al., 2018).
The SF-12 and yQOL questionnaires provide a quality of life outcome assessment from the
patient's perspective. Recognizing a positive impact in the quality of life in patients undergoing
orthognathic surgery or non-surgical protraction could be used as justification for choosing
optimal treatments.
Clinicians operate on assumptions about patient self-esteem and ability to socially function as
being related to their physical appearance. The results from this study is surprising because
compared to a matched, non-cleft population, the Protraction CLP group at pretreatment
correction reported a better general health (Q1), felt more calm and peaceful (Q9), had more
energy (Q10), and that their physical health or emotional problems interfered less with their
social activities (Q12) (Figure 19) than their non-cleft counterparts (Kontodimopoulos, 2007).
67

The Protraction T2 group had similar responses relative to the non-cleft population except both
groups felt they had a lot of energy most of the time (Q10) (Figure 17). The only difference
between the Surgery pretreatment group and the non-cleft population was that the Surgery group
felt more calm and peaceful (Q9) and that their physical health or emotional problems interfered
less with their social activities (Q12) than the non-cleft population; otherwise, the frequencies
were similar (Figure 17). This is an unexpected finding as it does not support the idea that
treatment and facial corrections are associated with increased QoL.

At the maximal correction timepoint T2, a mid-treatment time point about one year after the pre-
treatment surveys were taken, the results were different from what was expected. In the case of
the Surgery group the SF-12 responses did not change from before and after surgery. In fact,
the Surgery group reported better general health (Q1), more calm and peaceful (Q9), and that
their physical health or emotional problems interfered less with their social activities (Q12) than
a control group, a Greek non-cleft population ages18 years and older. Unexpectedly, both
protraction and surgery groups reported higher quality of life in both the Physical and Mental
Health components than the control non-cleft population. This discrepancy could be
confounded by site differences relating to different populations at different sites in different
countries. In future studies, we plan to work with the RAND corporation to find the best match
for a non-medical control group.

The results of the study showed relative stability in the responses in both Protraction and Surgery
groups from pretreatment to maximal correction of malocclusion. Based on the
questionnaires, untreated adolescents (11-14 and 16-21 years old) with cleft lip and palate
68

consider themselves in very good health, not limited in moderate activities, not limited in
climbing several flights of stairs, do not accomplish less than they would like, do not feel limited
in the kind of work, did not feel that pain interferes with their normal work, feel calm and
peaceful most of the time, do not feel downhearted and blue, and their physical health or
emotional problems do not interfere with their social activities. The quality of life did not
significantly change after aging (approximately one year from pretreatment) with either
orthodontic protraction or orthognathic surgery. One exception to the stability of responses was
in the Protraction group where there was a decrease of feeling a lot of energy at pretreatment all
of the time to only most of the time at maximal correction. The change may be attributed to the
protocol’s heavy reliance on patient cooperation with elastics and appliances; essentially, the
participants may be feeling “burnt out.”

Regarding the five domains of the yQOL-FD questionnaire, there was no statically significant
difference between pretreatment and maximal correction or between the two groups for Stigma
and Coping. The results suggest that the orthodontic intervention of protraction or orthognathic
surgery did not significantly change how stigmatized youth felt by the general population or
friends or help them feel more confident in social situations like finding a boyfriend or girlfriend,
feeling judged, or being embarrassed of their physical appearance. Additionally, neither
intervention for either group felt they were better coping with their physical appearance.
Although studies have shown that stigmatizing social responses due to facial differences can lead
to a negative self-perception of physical attractiveness, the Surgery group had higher ratings
responses for Negative Consequence and Negative Self-Image (Kapp-Simon et al., 1992). This
suggests that although the Surgery participants did not feel more or less stigmatized after
69

treatment, negative emotions like anger and frustration were very much associated with their
physical appearance relative to their Protraction counterparts. For the Positive Consequence
domain, the Surgery Group had higher ratings, which displays a positive association between
their facial difference and overall QoL. It is possible that the patients in the Surgery Group
developed empathy through their orthodontic process.

Studies by (Tang et al., 2019), investigated the motivation for orthodontic treatment of NON-
CLP and patients with CLP. The study found that CLP and NON-CLP patients aged 9-16 years
ranked aesthetics as the main motivation for treatment (Tang et al., 2019). Although studies
have shown that facial esthetics is a primary motivation for treatment and a source of
identification and nonverbal information, their results and interpretation infer that there may be
other factors in an adolescent’s life that play a greater role in quality of life. (Edwards, 2002)
suggests youth between the ages of 12-18 correlate quality of life with friends, followed closely
by family. Regardless of a craniofacial anomaly, stable friendships or social relationships play a
large factor in perceived quality of life (Edwards, 2002). Family and friends may be a
determining factor for how an adolescent responds to a quality of life questionnaire though this
factor was not tested in this study. A strong and unwavering network of friends, family, or
positive environmental factors may have contributed to the stability in responses between T1 and
T2 in both Protraction and Surgery groups.

The assumption that self-esteem is highly dependent on facial esthetics and appearance in
orthodontics may not be as correlated as previously believed. Based on the responses of the SF-
12 and yQOL questionnaires at pretreatment and the middle of treatment at maximal correction,
70

participants appear to have stability in other aspects of their life that remained constant between
the two timepoints and aging. Another explanation of the relatively unvarying responses may be
that the Protraction and Surgery participants did not have a chance to process or assess their
physical change by mid-treatment time point T2. This study only examined pre-treatment and
mid-treatment results; we are awaiting the T3 results which are taken at the time of debanding to
see whether there will be changes in self-esteem and self-perception when treatment is complete,
and the braces are removed.

In a future study aimed at measuring quality of life, it would be interesting to examine parent-
reported data. This study only looked at two self-reported questionnaires which may not have
been sensitive enough to capture changes in self-perception. Looking at parent assessments of
child questionnaires like the Child Behavior Checklist (CBCL) and Adult Behavior Checklist
(ABCL) and incorporating timepoints post-debanding of orthodontic appliances, as well as, one-
year post-treatment, may give more insight the factors affecting changes of quality of life, values
of specific treatment interventions, and a better psychological assessment of patients with
craniofacial deformities.

71

CONCLUSION
This study results show only subtle differences between an adolescent’s quality of life and self-
perception at early and late adolescence before starting orthodontic treatment, at maximal
correction of malocclusion, and relative to a control non-cleft population. The results were
unexpected as it easy to assume that patients with craniofacial deformities may be motivated to
change their physical appearance and have a lower quality of life in terms of self-esteem and
health than a non-cleft population.

Looking at the self-reported data at debanding of orthodontic appliances(T3), and at 1-year post-
debanding(T4) may be more informative about changes in quality of life during treatment. In
addition, parent-reported data may reveal greater insight into what factors affect the quality of
life or which factors such as environment, friends, family, education are the sources of stability
in their sense of self-esteem.

72

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77

APPENDICES
1. Sample SF-12 Questionnaire
2. Sample yQOL-FD Questionnaire Five Domains
3. SF-12 Physical and Mental Health Domains breakdown
4. Sample yQOL-FD
5. yQOL-R Information Sheet
6. Tables with data

1. Sample SF-12 Questionnaire
78

1. In general, would you say your health is:
a. Excellent – 1
b. Very good – 2
c. Good – 3
d. Fair – 4
e. Poor – 5
Does your health now limit you in these activities? If so, how much?
2. MODERATE ACTIVITIES, such as moving a table, pushing a vacuum cleaner,
bowling, or playing golf:
a. Yes, Limited a lot – 1
b. Yes, Limited a little – 2
c. No, Not limited at all – 3

3. Climbing SEVERAL flights of stairs?
a. Yes, Limited a lot – 1
b. Yes, Limited a little – 2
c. No, not limited at all – 3
During the PAST 4 WEEKS have you had any of the following problems with your work or
other regular activities AS A RESULT OF YOUR PHYSICAL HEALTH?
4. ACCOMPLISHED LESS than you would like?
a. Yes – 1
b. No – 2
5. Were limited in the KIND of work or other activities:
a. Yes – 1
b. No – 1
During the PAST 4 WEEK, were you limited in the kind of work you do or other regular
activities AS A RESULT OF ANY EMOTIONAL PROBLEMS (such as feeling depressed or
anxious)?
6. ACCOMPLISHED LESS than you would like:
a. Yes – 1
b. No – 1

7. Didn't do work or other activities as CAREFULLY as usual:
a. Yes – 1
b. No – 1

79

8. During the PAST 4 WEEKS, how much did PAIN interfere with your normal work
(including both work outside the home and housework)?
1. Not At All – 5
2. A Little Bit – 4
3. Moderately – 3
4. Quite A Bit – 2
5. Extremely – 1
The next four questions are about how you feel and how things have been DURING THE PAST
4 WEEKS.
9. Have you felt calm and peaceful?
1. All of the Time – 1
2. Most of the Time – 2
3. A Good Bit of the Time – 3
4. Some of the Time – 4
5. A Little of the Time – 5
6. None of the Time – 6

10. Did you have a lot of energy?
1. All of the Time – 1
2. Most of the Time – 2
3. A Good Bit of the Time – 3
4. Some of the Time – 4
5. A Little of the Time – 5
6. None of the Time – 6

11. Have you felt downhearted and blue?
1. All of the Time – 1
2. Most of the Time – 2
3. A Good Bit of the Time – 3
4. Some of the Time – 4
5. A Little of the Time – 5
6. None of the Time – 6

12. How much time has your PHYSICAL HEALTH OR EMOTIONAL PROBLEMS
interfered with your social activities (like visiting with friends, relatives, etc.)?
1. All of the Time – 1
2. Most of the Time – 2
3. A Good Bit of the Time – 3
4. Some of the Time – 4
5. A Little of the Time – 5
6. None of the Time – 6

2. yQOL-FD Five Domains
80

Stigma
Because of how my face looks, people have a hard time seeing who I really am.
Because of how my face looks, I need to prove myself to other people.
Because of my facial difference, people judge me on how I look.
Because of how my face looks, people think I am stupid.
Because of how my face looks, it is difficult to find friends I can trust.
It is difficult to get a girlfriend or boyfriend because of how my face looks.
Other people my age are embarrassed to be seen with me because of how my
face looks.
I feel like I do not fit in with other people because of how my face looks.
People stare at me because of how my face looks.
I feel uncomfortable meeting people for the first time because of how my face
looks.

Negative Self-image
I avoid looking in the mirror because of my how my face looks.
I dislike looking at pictures of myself because of my how my face looks.
I feel I get away with doing less than I could because of how my face looks.
Having a facial difference decreases my chances of success in life.
Because of how my face looks, it is hard for me to walk around in public.
Because of how my face looks, I feel I have no control over my life.
Positive Consequences
Because of how my face looks, I am in touch with other people’s feelings.
Because of how my face looks, I am more accepting of other people.
I am a stronger person because of how my face looks.
Because of how my face looks, I know more about life than other people my age
do.
My facial difference has helped me to accept other people for who they are.

Negative Consequences
Looking more like everyone else is important to me.
I feel self-conscious because of how my face looks.
I feel frustrated about how my face looks.
Because of how my face looks, I have more anger inside me than most people
know.
It makes me angry when grown-ups stare at me because of how my face looks.

Coping
I have gotten used to people making fun of how my face looks.
I have learned how to deal with people teasing me because of how my face looks.
I have learned to live with people being curious about how my face looks.
I try not to pay attention to other people when they say things about my face.
Response Scale: 0 _ not at all 10 _ a great deal or completely.

3. SF-12 PHYSICAL HEALTH AND MENTAL HEALTH DOMAIN BREAKDOWN
81

82

4. SAMPLE YQOL-FD

83

5. YQOL-R INFORMATION SHEET

6. Tables with Data

84

yQOL-FD: Coping domain descriptive statistics

yQOL-FD: Negative Consequence domain descriptive statistics

85

yQOL-FD: Negative Self Image domain descriptive statistics
86

yQOL-FD: Positive Consequence domain descriptive statistics
87

88

yQOL-FD: Stigma domain descriptive statistics

yQOL Descriptive Statistics
89

90

NON-PARAMETRIC T-TEST AND PAIRED T-TEST

91

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Asset Metadata

Creator Lee, Janice Sook (author)

Core Title Quality of life of patients with cleft lip and palate undergoing orthodontic treatment during early vs. late adolescence

School School of Dentistry

Degree Master of Science

Degree Program Craniofacial Biology

Publication Date 04/26/2020

Defense Date 04/25/2020

Publisher University of Southern California (original), University of Southern California. Libraries (digital)

Tag cleft lip and palate,Craniofacial Biology,OAI-PMH Harvest,orthodontics,QoL,quality of life studies

Language English

Contributor Electronically uploaded by the author (provenance)

Advisor Yen, Stephen (committee chair)

Creator Email jancan87@gmail.com

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