Long-term treatment outcomes from the perspective of a patient with unilateral cleft lip and palate

Abstract

The management of patients with orofacial cleft (OFC) often extends from diagnosis or birth well into adulthood and requires many different specialists within multidisciplinary teams (MDT). The aims of treatment are to restore form and function relating to hearing, speech, occlusion and facial aesthetics. People with OFCs that include the lip, alveolus and palate (cleft lip and palate (CLP)) require several different staged and coordinated surgical and non-surgical interventions, and the treatment pathway is associated with a heavy burden of care. Due to the extensive nature of the interaction with these patients, MDT members have opportunities to provide enhanced patient-centred care and support. This case report provides an overview of the current knowledge of the aetiology of OFC and the management of these patients. It provides a unique perspective from one of the coauthors who has a unilateral CLP (UCLP) and reports on his treatment experiences and long-term treatment outcomes. By having a better understanding of the impact of UCLP and treatment provided, MDT members can not only provide improved clinical treatment but also offer improved patient experiences for those with craniofacial anomalies, in particular, an increased awareness of the psychosocial challenges, they endure throughout their treatment pathway and beyond.

Background

Across the world, a child is born with orofacial clefting (OFC) approximately every 3 min,¹ with variability in prevalence across geographical regions, ethnic groups and exposure to environmental factors.² Asian and Native American populations have the highest reported prevalence at 1 in 500, whereas African-derived populations have the lowest prevalence rates of 1 in 2500. In the UK, the prevalence is around 1 in 700 live births.²

OFC phenotypes vary from simple notching or pitting of lip tissue to complex bilateral clefts of the lip and palate.³ Most cleft lip and palate (CLP) occurs as an isolated birth defect, but clefting can be an associated feature in over 300 different syndromes.⁴ There is increased frequency of left-sided over right-sided unilateral clefts and CLP affects men more than women in a ratio of 2:1, although isolated cleft palate is more common in women.⁴ The aetiology is thought to be multifactorial, with both genetic and environmental factors playing a role during facial development.⁵ In utero, the midface primordia fuse to form the orofacial structures, including the upper lip, the nose and the palate. Complex regulatory mechanisms control these processes, hence them being susceptible to both genetic and environmental influences.

Twin studies have traditionally been invaluable for the study of the genetics of OFC. Studies of CLP in monozygotic twins showed 40%–60% concordance, compared with 5% in dizygotic twins. The lack of 100% concordance in monozygotic twins suggested that genetic events alone were not responsible for the OFC.⁵ More recently, genomewide association studies have facilitated the identification of 350 potential candidate genes.⁶ A small number of the genes associated with non-syndromic OFCs include PTCH1 and WNT9B, components of the sonic hedgehog and Wnt pathways, receptor tyrosine kinase-like orphan receptor 2, transforming growth factor-beta receptor 1 and forkhead box E1.⁶ The extracellular matrix is critical during craniofacial morphogenesis and as such, genes for remodelling proteins, such as matrix metalloproteinases and tissue inhibitors of metalloproteinases, can be implicated in clefting. Other important signalling pathways include the Bmp/Tgf-β superfamily and the Fgf signalling pathway. Several components of Wnt signalling have also been implicated in the aetiology of OFCs.⁶ Other genetic research using Mendelian randomisation has suggested that non-syndromic CLP should not necessarily be regarded as a dichotomous trait and that it may have a continuous dimension with differences in facial morphology in the general population. Genetic risk factors for non-syndromic CLP were associated with decreased philtrum width in non-cleft-affected individuals.⁷

A wide range of environmental factors are implicated in the aetiology of OFC. The significant association between maternal smoking and CLP has long been established.⁸ The association between maternal alcohol consumption and OFC is less clearly defined.⁹ Other important environmental factors include the metabolism of folates and retinoids and the use of glucocorticoids.¹⁰ Occupational exposure to solvents, for example, methanol and viral infection during the first trimester (eg, varicella, rubella, cytomegalovirus, common cold and influenza) may cause OFC. The association with bacterial infection is less clearly defined, but suspected pathogens include Mycoplasma pneumoniae and Treponema pallidum.¹⁰ Higher quality diets (eg, Mediterranean diets) are also associated with better outcomes for orofacial development.¹¹ Finally, epigenetic processes, such as DNA methylation and histone modification, may be influenced by environmental factors and may cause OFC.¹²

As well as disruption of facial growth and disordered dental development, children with CLP face problems associated with speech, hearing, appearance and adverse effects on psychology and social integration. The aim of management is to improve both function and aesthetics and typically requires multidisciplinary care from birth to adulthood. Multidisciplinary teams (MDT) typically comprise a plastic surgeon, orthodontist, speech therapist, oral and maxillofacial surgeon, psychologist, specialist nurse, otolaryngology (Ear, Nose and Throat (ENT)) surgeon, audiologist, paediatrician and geneticist.

Following the report of the Clinical Standards Advisory Group (CSAG) in 2001,^13–16 cleft care in the UK has changed significantly to a more centralised, multidisciplinary approach in recent years. There have been improvements to facial appearance and dentoalveolar outcomes following the changes in service configuration,¹⁷ but no improvements in hearing or levels of dental caries.¹⁸ Children born with unilateral CLP still also have poorer educational outcomes at age 7 compared with their peers.¹⁹ The case presented in this report received his primary surgical repairs and initial alveolar bone graft prior to the restructuring of cleft care following the CSAG recommendations.

Recent research has reinforced that multidisciplinary care is required not only throughout childhood for individuals with CLP but also into adulthood. Approximately, 54% of adults have reported ongoing concerns with their surgical outcomes,²⁰ and there is evidence that individuals with CLP can be at risk of emotional distress into adulthood.²¹ As such, the routine use of patient-reported outcome measures has been recommended from an early age.²⁰

We present a case (coauthor) where multidisciplinary team working was essential for good outcomes and where treatment can be tracked from birth to adulthood (table 1). Some aspects of the extensive treatment provided, particularly the use of infant presurgical appliances and lip strapping, are no longer undertaken in the UK due to their lack of evidence in improving outcomes and additional burden of care. Surgery and management from 9 years old were subsequently undertaken in New Zealand following emigration of the patient. This case, through long-term follow-up, also demonstrates the relative stability and generally favourable outcomes of some of the treatment provided, although some outcomes could be considered suboptimal as are the number of revision surgeries undertaken.

Table 1.

Treatment pathway for unilateral cleft lip and palate for the patient (co-author)

Age	Management	Surgical intervention
Birth	Feeding advice and placement of presurgical maxillary moulding plate and lip strapping
3 months		Primary lip repair
9 months		Primary hard and soft palate repair
13 months		Revision repair of lip
2 years		Grommets
3 years		Grommets
3 years		Fistula repair
4 years		Rhinoplasty
8 years	Orthodontic expansion of maxillary arch prior to alveolar bone graft and alignment of maxillary anterior teeth postalveolar bone graft	Alveolar bone graft with harvest site right tibia fistula repair
10 years		Rhinoplasty including a topup alveolar bone graft, revision repair lip and fistula repair
12 years	Orthodontic alignment of maxillary and mandibular teeth
21–23 years	Orthodontic alignment and decompensation prior to orthognathic surgery followed by postsurgical maxillary traction and detailing of the occlusion	Le Fort I advancement and downgraft with fistula repair (23 years)
25 years		Rhinoplasty, fistula repair

Case presentation

During the first 3 months of life the patient (coauthor), born with a unilateral (right complete) CLP, undertook a course of lip strapping in combination with wearing a maxillary presurgical moulding plate. This was used to align the distorted position of the anterior segment of the maxilla adjacent to the cleft site and reduce the width of the cleft prior to undertaking the primary surgical lip repair. The hard and soft primary palate repair was undertaken at 9 months, however, an oronasal fistula remained. During this time, initial feeding was difficult as both mother and baby adjusted to the presence of the cleft.

Dental development included the eruption of displaced anterior teeth adjacent to the alveolar cleft site and the absence of the permanent upper right lateral incisor. An anterior and posterior crossbite developed with restricted maxillary transverse and anteroposterior growth, which became more noticeable with age. At the age of 8 years, the patient undertook orthodontic-fixed appliance treatment to expand the collapsed lesser maxillary segment and create sufficient space for surgical access for the placement of a bone graft in the alveolar cleft site. The harvest site for the cancellous bone was his right tibia and this was placed before the eruption of the upper right permanent canine. Further fixed appliances were required postgraft to improve the alignment of the upper anterior teeth, but no attempt was made to correct the anterior crossbite due to the underlying class 3 skeletal jaw discrepancy. An attempt was made to repair the fistula at the time of the bone graft, but this was unsuccessful.

Throughout the patient’s early years and extending into adolescence, he undertook numerous speech therapy sessions to correct resonance disorders (primarily hypernasality) and articulation errors. He also had two procedures to instal grommets to correct hearing. In addition to the physical impacts of cleft, he also has experienced significant social impacts of cleft, including multiple instances of bullying predominantly during childhood and adolescence. These experiences have undoubtedly had a detrimental effect on his self-esteem and his perceived social competence.

At 16 years of age, the patient presented with a class III incisor relationship on a class 3 skeletal base with a retrognathic maxilla, 5 mm reverse overjet and bilateral buccal crossbites (figures 1 and 2). There was mild upper and lower arch crowding in the buccal segments with upper anterior teeth reasonably well aligned with a fixed palatal retainer wire present. The upper right permanent canine had erupted mesially into the missing upper right lateral position with adequate bone support. The lateral cephalogram (figure 3) confirmed the class 3 skeletal pattern (Angle between point A, Nasion and point B (ANB)—6.5⁰ and Wits—9.2 mm) and that the anterior teeth were compensating to this skeletal pattern with the upper incisors proclined (116⁰ to the maxillary plane) and lower incisors retroclined (86.5⁰ to the mandibular plane).

Figure 1.

Extraoral photographs. (A) Newborn/initial repair/prealveolar bone graft. (B) Preorthodontic/orthognathic surgery. (C) Post Le Fort I advancement and brace removal. (D) Postrhinoplasty and long-term follow-up (6.4 years post-treatment).

Figure 2.

Intraoral photographs. (A) Prealveolar bone graft. (B) Postalveolar bone graft. (C) Preorthodontic/orthognathic surgery. (D) Post Le Fort I advancement and brace removal. (E) Long-term follow-up (6.4 years postbrace removal).

Figure 3.

Lateral cephalograms. (A) Preorthodontic/orthognathic surgery. (B) Pre Le Fort I advancement. (C) Immediate Le Fort I advancement. (D) Long-term follow-up (6.4 years post-treatment).

Adult treatment

Upper and lower fixed appliances were placed to align and coordinate the dental arches and decompensate the inclination of the anterior teeth prior to undertaking a conventional Le Fort I maxillary advancement and down graft. Complications included achieving a reduced overjet and overbite due to difficulties at the time of the surgical advancement. Strong class III intermaxillary elastics and reverse pull head gear were used to establish a positive overjet and overbite prior to removal of the fixed appliances and placement of retainers. A fractured maxillary bone plate in the anterior part of the left zygoma was subsequently discovered on three dimensional (3D) imaging postsurgery following low-grade intermittent pain, which has resolved, but there is ongoing altered nerve sensation in this region. A palatal fistula repair was also undertaken at the time of the Le Fort I maxillary advancement, but this was unsuccessful. A further unsuccessful palatal fistula repair was undertaken 2 years later at the same time as a rhinoplasty was undertaken to address anterior tip position and width of alar base.

Outcome and follow-up

Longer term follow-up demonstrates good stability of the combined orthodontic/orthognathic surgery correction of the class 3 skeletal pattern (figure 3), with the maintenance of a positive overjet and overbite. There has, however, been some transverse maxillary arch width relapse with the development of an edge-to-edge buccal occlusion (figure 2). The long-term result after multiple lip, palatal and nasal revision surgery is, however, suboptimal. The external nasal form shows a bulbous tip with wide alar base and the central lip is short with ‘notched’ vermillion. Unfortunately, the palatal fistula remains patent. The fistula is cavernous, wide at the palatal end and narrowing towards the nasal floor. Consequently, while it is a nuisance for small foods such as rice becoming lodged in the fistula, fortunately food and liquid do not penetrate through to the nasal cavity. There is some minimal air escape, with a minor impact on speech, which the patient is acutely aware of; however, this is not typically noticed or commented on by others. Given the repeated failures and postsurgical complications of fistula repairs, after consultation with the patient, it was decided to discontinue any future treatment for this.

The patient has had some continued issues with hearing, most notably tinnitus developing following orthognathic surgery, although his hearing is within normal limits. Although he does not have any day-to-day issues with eating, aside from a preference to bite using premolars instead of incisors, he does avoid particularly chewy foods and certain foods require cutting up prior to eating. However, the most persistent impacts for the patient (coauthor) on a day-to-day level are the social and health-related anxieties that have arisen from the cleft experience. These include concerns regarding self-esteem, a fear of negative evaluation from others and discrimination. In addition, there is an ongoing fear of relapse related to previous treatment, or development of a new unrelated health condition (despite there being no evidence of these to date).

Despite these above issues, the patient (coauthor) was able to successfully pursue higher educational training as a speech language therapist and has developed research interests focusing on the study of treatment experiences and emotional well-being of patients with OFC.^{20 21}

Discussion

OFC is the most common craniofacial developmental defect with variable phenotype, the majority of which are not associated with any other abnormality. A detailed history, full clinical examination and identification of anatomical features are required to diagnose the type of OFC. OFC which are associated with a syndrome or other anomalies more often have a cleft palate while the most extreme phenotypes, where clefting extends to include the orbit and other cranial structures, are termed atypical (or Tessier) facial clefts and are very rare.

Although there have been improvements in dentofacial outcomes since centralisation of cleft services in the UK, the requirement for combined orthodontic and orthognathic surgery still remains for those patients who develop a significant class 3 skeletal relationship. The more severe skeletal discrepancies where greater magnitude of jaw movement is required are often treated with Le Fort I maxillary advancement by distraction osteogenesis and/or bimaxillary surgery. Challenges associated with the Le Fort I advancement include previous surgical scarring, limited bone stock in the previously grafted alveolar cleft as well as possible iatrogenic deterioration in speech with spatial changes to the palatal soft tissues. Prior to undertaking orthognathic surgery, a speech assessment is usually undertaken to monitor any detrimental change with the maxillary advancement. Relapse of some treatment changes is a common risk and long-term monitoring and retention are required.

While both surgical and nonsurgical treatments are intended to restore function in patients with OFC, it is important that members of the MDT understand that some outcomes may not always be as advantageous as anticipated. Each individual with OFC has different psychosocial and functional needs and their staged, coordinated treatment plans should be tailored individually with an emphasis on supporting their emotional well-being.

Learning points.

• The management of patients with orofacial cleft (OFC) is associated with a complex and extended treatment pathway with a considerable burden of care.

• Staged, coordinated surgical and non-surgical treatments are undertaken by the multidisciplinary team.

• Patients with OFC can experience challenging psychosocial and functional needs.

• Despite best efforts, there is a risk that some long-term outcomes may be suboptimal.

Ethics statements

Patient consent for publication

Consent obtained directly from patient(s)