International Encyclopedia of Rehabilitation Quality of life among children, adolescents and adults with orofacial clefts

Abstract

Introduction The term “orofacial cleft” (OFC) covers a wide range of disorders affecting the lips and oral cavity. Generally, one distinguishes between cleft lip (CL; ICD-10: Q36.-), cleft lip and palate (CLP; ICD-10: Q37.-) and cleft palate (CP; ICD-10: Q35.-). Additionally, OFCs may be left- or right-sided (unilateral), or both sided (bilateral). Orofacial clefts (OFC) are the most frequent birth defects worldwide. One in five- to seven hundred newborns suffers from OFC (Mossey et al. 2009; Eurocat, 2010). Prevalence rates vary as a function of ethnic, geographical, and socio-economic factors, and mothers’ general health status. Aetiology Several factors seem to underlie OFCs, though no clear-cut factors have been isolated so far. On the other hand, naïve theories abound. To illustrate, the ancient Britons claimed that a pregnant woman who ate hare's flesh would bear a child with a hare-lip (Thomas, 1983). And these days, Nigerian ethnic groups attribute the occurrence of OFC to an act of God, witchcraft or evil spirits. As a result, only 40% of Nigerian respondents were aware that surgery was an applicable treatment, and only 22% recommended a visit to a clinic (Oginni et al. 2010). Orofacial clefts result from a failure during embryonic development. Specifically, between the fourth and seventeenth weeks of embryonic development, the closure mechanisms for the facial and oral cavity fail. Note that at the very beginning of embryonic development, the embryo is particularly sensitive to adverse substances, and that women are not always aware of being pregnant at this early stage of pregnancy. Scientific research focuses on genetics (1), environment (2), and gene-environment-interaction (3). (...)

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International Encyclopedia of Rehabilitation
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Quality of life among children, adolescents and adults
with orofacial clefts
Serge Brand, BSc, MSc, PhD
Research psychologist and lecturer at the Psychiatric Hospital of the University of Basel,
Switzerland
serge.brand@upkbs.ch
Andreas A. Müller, MD, DDS
Clinic for Cranio-Maxillofacial Surgery, University Hospital Basel, Switzerland
anmueller@uhbs.ch
Introduction
The term “orofacial cleft” (OFC) covers a wide range of disorders affecting the lips and oral cavity.
Generally, one distinguishes between cleft lip (CL; ICD-10: Q36.-), cleft lip and palate (CLP; ICD-
10: Q37.-) and cleft palate (CP; ICD-10: Q35.-). Additionally, OFCs may be left- or right-sided
(unilateral), or both sided (bilateral).
Orofacial clefts (OFC) are the most frequent birth defects worldwide. One in five- to seven hundred
newborns suffers from OFC (Mossey et al. 2009; Eurocat, 2010). Prevalence rates vary as a
function of ethnic, geographical, and socio-economic factors, and mothers’ general health status.
Aetiology
Several factors seem to underlie OFCs, though no clear-cut factors have been isolated so far. On the
other hand, naïve theories abound. To illustrate, the ancient Britons claimed that a pregnant woman
who ate hare's flesh would bear a child with a hare-lip (Thomas, 1983). And these days, Nigerian
ethnic groups attribute the occurrence of OFC to an act of God, witchcraft or evil spirits. As a
result, only 40% of Nigerian respondents were aware that surgery was an applicable treatment, and
only 22% recommended a visit to a clinic (Oginni et al. 2010).
Orofacial clefts result from a failure during embryonic development. Specifically, between the
fourth and seventeenth weeks of embryonic development, the closure mechanisms for the facial and
oral cavity fail. Note that at the very beginning of embryonic development, the embryo is
particularly sensitive to adverse substances, and that women are not always aware of being pregnant
at this early stage of pregnancy.
Scientific research focuses on genetics (1), environment (2), and gene-environment-interaction (3).
Genetics
OFC occurs more frequently in monozygotic twins (that is: twins developed from the identical
zygote [cell]) than in dizygotic twins. Males are more affected by CL than females. Left-sided clefs
are more frequent than right-sided or both-sided clefts. The occurrence of OFC is greater in Latin
America and Asia while it occurs less often in Southern Europe, South Africa, and Israel, compared
to other countries of the world, whereas the birth prevalence of CL/P in Hamedan city (Iran) was
closer to the prevalence of CL/P in the US and Europe than Africa and the Far East (Zandi &
Haidari, in press). These observations are consistent with the notion that genetic factors do
influence the occurrence of OFC (cf. Mossey et al. 2009).
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Environment
Environmental factors include: the mother’s unfavourable health behavior such as consumption of
tobacco, alcohol, drugs, or medicaments; deficiency of vitamins, zinc and, probably, folate.
Comparing demographic characteristics and outcomes for children with OFC in three different
states of the USA, Damiano et al. (2009) found that, compared to New York and Iowa, children in
Arkansas were born into families with lower income and to parents less likely to be married.
Children in Arkansas were also more likely to have special health care needs and require mental
health care.
Gene-environment interaction
Additionally, it is conceivable that there are interactions between genetic and environmental factors.
To illustrate, the risk of bearing a child with OFC is likely to be increased for women with an
observed family history of OFC and concomitant consumption of tobacco and alcohol, as well as
with an unplanned pregnancy and deficiencies in vitamins and zinc. A pattern of polycausality has
been confirmed in a study performed in Iran (Zandi & Heidari, in press). Note that all these factors
do increase the probability of the occurrence, though this does not imply a linear link between OFC,
genes and environment.
The relation between quality of life, sociopsychological functioning
and orofacial clefts
Generally, facial appearance is regarded as an important prerequisite for healthy psychosocial
development (Cole, 1998; cf. Rumsey & Harcourt, 2005). This assumption is supported from three
directions. First, evolutionary theories claim that symmetric faces imply physical health, including a
well-functioning immune system, the absence of illness or a relative lack of environmental insults
during development (cf. Buss, 2008). Second, these theories emphasize that the beauty and
attractiveness may depend upon the face’s symmetry and a relatively large interocular distance.
Third, social psychologists claim that social interactions largely rely upon perception and
interpretation of facial expressions (Hubbard, 2001; Nummenmaa et al. 2008; Vigil, 2009) and
evaluations of attractiveness (cf. Feingold, 1992).
As a consequence, it might be anticipated that children, adolescents, and adults with untreated
orofacial clefts would be at risk for psychosocial difficulties. In this view, untreated OFC generally
leads to negative effects on speech, hearing, appearance, and physical and psychological well-
being. To illustrate, Akinbami (2007) reported a 25-year-old single female patient with
hypernasality and misarticulation of speech secondary to an untreated OFC. The young lady
described having problems interacting with other people and with young males in particular.
Quality of life among children, adolescents and adults with orofacial
clefts
With regard to the relation between surgically repaired OFC and psychosocial difficulties, results
from a large body of research have thus far failed to provide a coherent picture. The reasons for this
incoherent picture remain unclear, however, methodological issues may confer to this incoherence:
To name a few, issues are related to studies using different measures, non-representative and/or
small samples, lack of control groups, lack of longitudinal studies, cultural differences (leading to
different degrees of acceptance of visible differences), differences related to the quality of
treatment, as well as different registration systems across countries.
Quality of life among children and adolescents with orofacial clefts
In children and adolescents, on the one hand, findings are of a negligible impact of CLP on an
individual’s psychological well-being (Bressman et al. 1999; Gussy & Kilpatrick, 2006), supporting
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the conclusion that in general, children and adolescents might not suffer from psychopathological
difficulties (Hunt et al. 2005). Sagheri et al. (2009) investigated 61 children with CLP between four
and seven years. The main results were that, compared to children without CLP, children with CLP
revealed no statistically significant differences in physical well-being, emotional well-being, self-
esteem, family life, or friendships at school.
Similarly, Brand et al. (2009) investigated 32 children and adolescents aged 6 to 16 years with CLP
and 34 controls. The main results were that participants with and without CLP did not differ with
respect to emotional problems, conduct problems, or hyperactivity. Moreover, with respect to sleep,
poor sleep patterns were associated with psychosocial strain, but not with the presence of CLP.
Kramer et al. (2009) reported a very differentiated picture of psychological and family functioning
in children with OFC. They investigated 170 children from 8 to 12 years with and without OFC and
found that family functioning was superior in families with children with cleft lip only (CL),
compared to families with children with cleft palate (CP) only or cleft lip and palate (CLP). Most
importantly, general quality of life was superior in children with OFC compared to controls without
OFC. Problems in the social field such as how to behave with family members or friends were
specifically reported by children with CLP. Kramer et al. (2009) indicated therefore the need for
research to distinguish between the different types of OFC.
In the same vein, Feragen et al. (2009) reported that in children aged 10 visibility of the cleft,
gender, and additional diagnoses had no negative impact on psychosocial resilience, that is, the
positive capacity to cope successfully with psychosocial issues (cf. Baker et al. 2009; Feragen et al.
in press). Likewise, Snyder and Pope (2010) also found that some children and adolescents with
craniofacial anomalies reported lower rates of problems compared to norms. Snyder and Pope
(2010) interpreted this finding as evidence that children and adolescents might build up a positive
capacity to successfully cope with psychosocial issues. Additionally, in a Chinese sample, scores
for satisfaction with life and social anxiety of people with OFC did not differ from controls
(Cheung et al. 2007).
Last, to illustrate the complexity of social perception and social interactions, Edwards et al (in
press) could demonstrate that first impressions others have of youth with clefts were significantly
affected by how these youth present themselves in social situations. As a result, the presence of a
repaired cleft might be more or less perceived and interpreted as irritating as a function of positive
or unfavorable social skills of a person with OFC.
On the other hand, there is also a large body of research which shows that children and adolescents
with OFC suffer from specific socio-psychological issues. Brand et al (2009) showed that children
and adolescents with CLP were six times more likely to report difficulties in interactional
competencies compared to controls without CLP. Stigma experiences, social problems (e.g., Snyder
et al. 2005), symptoms of anxiety and depression, dissatisfaction with facial appearance (e.g.,
Patrick et al. 2007), withdrawal and internalizing problems (Pope & Snyder, 2005), and shyness
(Boes et al. 2007) have also been reported.
In a cross-sectional study, Hunt et al. (2006) assessed the psychological functioning of patients
with CLP, comparing 160 children and young adults with an age- and gender-matched control
group. The main results were that, compared to controls without CLP, children and young adults
with CLP reported greater behavioral problems, increased symptoms of depression, and a lower
satisfaction with facial appearance and speech. Moreover, these participants indicated that they
were more likely to be teased in social settings. No significant differences between participants with
and without CLP were found for anxiety and self-esteem. However, independently of the presence
of CLP, having been teased predicted significantly poorer psychological functioning. Hunt et al.
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(2006) concluded that, as part of routine cleft care, children and young adults with CLP require
psychological assessment, specifically focusing on their experiences being teased.
Feragen et al. (2009) reported that cleft types were related to the frequency of additional physical
and psychological difficulties, pointing to a need to differentiate between types of OFC. They were
also able to show that psychosocial resilience was related to adequate emotional functioning, high
satisfaction with appearance, and low reported frequency of being teased. Last, compared to
children and adolescents with other than OFC, those with OFC registered higher scores for social
problems and deficits in social, and academic competencies. Moreover, adjustment seemed to be
related to appearance and speech deficits, which in turn appeared to be associated with poor peer
relationships. Specifically, poor adjustment was observed in those children reporting increased
teasing by peers (Snyder & Pope, 2010; see also Wehby & Cassell, 2010).
Taken together, for children and adolescents, the occurrence of a repaired OFC does selectively
negatively impact on quality of life. Specifically, compared to healthy controls and normative data,
specific social interactions seem to be affected. With respect to peer relationships, children and
adolescents indicate that teasing is particularly unpleasant. However, there is also evidence that the
presence of a repaired OFC does not necessarily lead to unfavourable psychosocial outcomes; on
the contrary, OFC can also be associated with increased resilience.
Quality of life among and adults with orofacial clefts
As for children and adolescents, results related to the quality of life of adults with orofacial clefts
are inconsistent.
Cheung et al. (2007) found that among Chinese adults with OFC, compared to controls, social
anxiety was not higher, but self-esteem was lower. In the same vein, Berk et al. (2001) reported
that, compared to siblings without OFC, adults Chinese with OFC had poorer scores for self-esteem
and social support and, additionally, higher scores for social anxiety. Berk et al. (2001) concluded
that, compared to siblings without OFC, adults with OFC may be more disadvantaged with respect
to social affiliation and adaptation.
In contrast, Chetpakdeechit et al. (2009) found that young adults with OFC and receiving
recognition from significant others reported higher self-esteem and greater ability to cope with their
social lives. Ramstad et al. (1995b) found that, compared to healthy controls, adults with OFC
reported anxiety and depression about twice as often, and these psychological problems were
strongly associated with concerns about appearance, dentition, speech, and desire for further
treatment. To summarize, these findings point to potential difficulties in psychological wellbeing
among some adults with clefts.
Marcusson et al. (2001) investigated a Swedish sample of 68 adults with OFC and 66 adults without
OFC. Compared to the gender- and aged-matched control group, adults with OFC had significantly
lower scores for quality of life, family life, private economy, global life, disturbance to life, well-
being, and social contacts. However, more practical and tangible aspects of the daily lives of the
adults with OFC were not affected. Marcusson et al. (2001) concluded that adults with OFC
reported a fairly good life adjustment in spite of the presence of the facial malformation.
Danino et al. (2005) investigated 82 French adults with repaired CLP and found that, compared to
adults without CLP, people with CLP did marry later, displayed a delay in scholarship, had a lower
income, and reported a significant delay in their independence process from their parents. These
findings do match those based on observations of a Norwegian sample of 233 adults aged 20 to 35
with repaired OFC: Compared to the general population, adults with OFC were less likely to marry
and, if they did so, to marry later in life, giving birth to fewer children (Ramstad et al. 1995a).
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However, data from a Norwegian population-based cohort study did suggest that any kind of birth
defect, including OFC, was not unfavourably associated with adult intellectual performance,
disability and mortality. Thus, it seemed that the presence of a repaired OFC had no negative
impact (Eide et al. 2006). Patel and Ross (2003) investigated 20 South African adults with repaired
OFC and concluded that participants were generally satisfied with their current communicative
abilities and with their educational attainments. Employment did not appear to be affected. As
children, they had been teased, though they also always had good relationships with their teachers.
Moreover, as adults, dating and marital relationships did not seem to be adversely affected. Last,
Mani et al. (in press) investigated 86 Swedish adults with OFC and showed that compared to older
participants, younger participants were more negatively affected in several areas related to quality
of life such as social, physical and emotional role function. However, when compared to normative
data, participants with OFC did not significantly differ from norm data.
Taken together, as for children and adolescents, some aspects of quality of life of adults with OFC
may be affected. However, findings vary with assessment tools, normative data and study focus.
Most importantly, the occurrence of repaired OFC does not necessarily lead to unfavourable
psychosocial outcomes.
Scientific journals (selection)
 British Journal of Oral Maxillofacial Surgery
 European Journal of Orthodontics
 International Journal of Oral and Maxillofacial Surgery
 Journal of Cranio-Maxillofacial Surgery
 The Cleft Palate Craniofacial Journal
 The Journal of Craniofacial Surgery
Internet sites related to OFC (selection)
 http://www.cleft-children.org/ (multilingual)
 http://www.cleftnet.de/ (German)
 http://cleftworld.com/
 http://www.clapa.com
References
Akinbami BO. 2007. Psychological effects of speech disorders in an adult patient with untreated
cleft palate. Nigerian Journal of Medicine 16:381-383.
Baker SR, Owens J, Stern M, Willmot D. 2009. Coping strategies and social support in the family
impact of cleft lip and palate and parents' adjustment and psychological distress. Cleft Palate
Craniofacial Journal 46:229-36.
Berk NW, Cooper ME, Liu Y, Marazita ML. 2001. Social anxiety in Chinese adults with oral-facial
clefts. Cleft Palate Craniofacial Journal 38:126-133.
Boes AD, Murko V, Wood JL, Langbehn DR, Canady J, Richman L, Nopoulos P. 2007. Social
functioning in boys with cleft lip and palate: relationship to ventral frontal cortex
morphology. Behavioural Brain Research 181:224-231.
Brand B, Blechschmidt A, Müller A, Sader R, Schwenzer-Zimmerer K, Zeilhofer H-F, Holsboer-
Trachsler E. 2009. Psychosocial Functioning and Sleep Patterns in Children and
-- 5

Adolescents With Cleft Lip and Palate (CLP) Compared With Healthy Controls. Cleft Palate
Craniofacial Journal 46:124-135.
Bressmann T, Sader R, Ravens-Sieberer U, Zeilhofer HF, Horch HH. 1999. Quality of life research
in patients with cleft lip and palate: preliminary results. Mund Kiefer Gesichtschir 3:134-
139.
Buss DM. 2008. Evolutionary psychology. The new science of mind. Boston (MA): Pearson.
Chetpakdeechit W, Hallberg U, Hagberg C, Mohlin B. 2009. Social life aspects of young adults
with cleft lip and palate: Grounded theory approach. Acta Odontologica Scandinavica
67:122-128.
Cheung LK, Loh JSP, Ho SMY. 2007 Psychological profile of Chinese with cleft lip and palate
deformities. Cleft Palate Craniofacial Journal 44:79-86.
Cole J. 1998. About face. Cambridge (MA): MIT Press.
Damiano P, Tyler M, Romitti P, Druschel C, Austin A, Burnett W, Kizelnik-Freilich S, Robbins J.
2009. Demographic characteristics, care and outcomes for children with oral clefts in three
states using participants from the National Birth Defects Prevention Study. Cleft Palate
Craniofacial Journal 46:575-582.
Danilo A, Gradell J, Malka G, Moutel G, Hervé C, Rosilio C. 2005. Social adjustment in French
adults from who had undergone standardised treatment of complete unilateral cleft lip and
palate. Annales de Chirurgie Plastique Esthétique 50:202-205.
Edwards T, Topolski T, Kapp-Simon K, Aspinall C, Patrick D. In press. What Difference Can a
Minute Make? - Social Skills and First Impressions of Youth with Craniofacial Differences.
The Cleft Palate-Craniofacial Journal. doi: 10.1597/08-204.
Eide MG, Skjaerven R, Irgens LM, Bjerkedal T, Oyen N. 2006. Associations of birth defects with
adult intellectual performance, disability and mortality: population-based cohort study.
Pediatric Research 59:848-53.
Eurocat. European Surveillance of Congenital Anomalies. http://www.eurocat-network.eu/;
retrieved June 6, 2010.
Feingold A. 1992. Good looking people are not what we think. Psychological Bulletin 111:304-341.
Feragen KB, Borge AI, Rumsey N. 2009. Social experience in 10-year-old children born with a
cleft: exploring psychosocial resilience. Cleft Palate Craniofacial Journal 46:65-74.
Feragen KB, Kvalem IL, Rumsey N, Borge A. In press. Adolescents with and without a facial
difference: The role of friendships and social acceptance in perceptions of appearance and
emotional resilience. Body Image.
Gussy M, Kilpatrick N. 2006. The self-concept of adolescents with cleft lip and palate: a pilot study
using a multidimensional/hierarchical measurement instrument. International Journal of
Paediatric Dentistry 16:335-341.
Hubbard JA. 2001. Emotion expression processes in children's peer interaction: the role of peer
rejection, aggression, and gender. Child Development 72:1426-38.
-- 6

Hunt O, Burden D, Hepper P, Johnston C. 2005. The psychosocial effects of cleft lip and palate: a
systematic review. European Journal of Orthodontics 27:274-285.
Hunt O, Burden D, Hepper P, Stevenson M, Johnston C. 2006. Self-reports of psychosocial
functioning among children and young adults with cleft lip and palate. Cleft Palate
Craniofacial Journal 43:598-605.
ICD-10. 2007. International statistical classification of diseases and related health problems. 10th
revision. http://apps.who.int/classifications/apps/icd/icd10online/ retrieved June 6, 2010.
Kramer FM, Gruber R, Fialka F, Sinikovic B, Hahg W, Schliephake H. 2009. Quality of life in
school-age children with orofacial clefts and their families. Journal of Craniofacial Surgery
20:2061-2066.
Mani M, Carlsson M, Marcusson A. In press. Quality of life varies with gender and age among
adults treated for unilateral cleft lip and palate. Cleft Palate Craniofacial Journal. doi:
10.1597/08-281.
Marcusson A, Akerlind I, Paulin G. 2001. Quality of life in adults with repaired complete cleft lip
and palate. Cleft Palate Craniofacial Journal 38:379-385.
Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC. 2009. Cleft lip and palate. The Lancet
374:1773-1785.
Nummenmaa L, Peets K, Salmivalli C. 2008. Automatic activation of adolescents' peer-relational
schemas: evidence from priming with facial identity. Child Development 79:1659-75.
Oginni F, Asuku M. Oladele A, Obuekw O, Nnabuko R. In press. Knowledge and cultural beliefs
about the etiology and management of orofacial clefts in Nigeria’s major ethnic groups.
Cleft Palate Craniofacial Journal.
Patel Z, Ross E. 2003. Reflections on the cleft experience by South African adults: Use of
qualitative methodology. Cleft Palate Craniofacial Journal 40:471-480.
Patrick DL, Topolski TD, Edwards TC, Aspinall CL, Kapp-Simon KA, Rumsey NJ, Strauss RP,
Thomas CR. 2007. Measuring the quality of life of youth with facial differences. Cleft
Palate Craniofacial Journal 44:538-547.
Pope AW, Snyder HT. 2005. Psychosocial adjustment in children and adolescents with a
craniofacial anomaly: Age and sex patterns. Cleft Palate Craniofacial Journal 4:349-354.
Ramstad T, Ottem E, Shaw WC. 1995a. Psychosocial adjustment in Norwegian adults who had
undergone standardized treatment of complete cleft lip and palate. I Education, employment
and marriage. Scandinavian Journal of Plastic and Reconstructive Surgery and Hand
Surgery 29:251-257.
Ramstad T, Ottem E, Shaw WC. 1995b. Psychosocial adjustment in Norwegian adults who had
undergone standardized treatment of complete cleft lip and palate. II Self-reported problems
and concerns with appearance. Scandinavian Journal of Plastic and Reconstructive Surgery
and Hand Surgery 29:251-257.
Rumsey N, Harcourt D. 2005. The Psychology of Appearance and Disfigurement. Berkshire (UK):
Open Unversity Press.
-- 7

-8-
Sagheri D, Ravens-Sieberer U, Braumann B, von Mackensen S. 2009. An evaluation of health-
related quality of life (HRQoL) in an group of 4-7 year-old children with cleft lip and palate.
Journal of orofacial orthopedics 70:274-784.
Snyder H, Pope AW. 2010. Psychological adjustment in children and adolescents with a
craniofacial anomaly: Diagnosis-specific patterns. Cleft Palate Craniofacial Journal 47:264-
272.
Snyder HT, Bilboul MJ, Pope AW. 2005. Psychosocial adjustment in adolescents with craniofacial
anomalies: A comparison of parent and self-reports. Cleft Palate Craniofacial Journal
42(5):548-555.
Thomas K. 1983. Man and the natural world: Changing attitudes in England 1500-1800. London:
Allan Lane.
Vigil JM. 2009. A socio-relational framework of sex differences in the expression of emotion.
Behavioral and Brain Sciences 32:375-90.
Wehby GL, Cassell CH. 2010. The impact of orofacial clefts on quality of life and healthcare use
and costs. Oral Diseases 16:3-10.
Zandi M, Heidari A. In press. An epidemiologic study of orofacial clefts in Hamedan city, Iran: A
15-year study. Cleft Palate Craniofacial Journal. doi: 10.1597/09-035.