The long and winding road – the journey of a cleft lip and palate patient part 1

Cleft care provision in the UK

In 1995, the Department of Health asked the Clinical Standards Advisory Group (CSAG) to investigate cleft care provision in the UK and, following their extensive investigation, they published a number of important recommendations:

In the UK, there are currently 10 centres and each clinical team includes specialist orthodontists, plastic and maxillofacial surgeons, speech therapists, geneticists, paediatricians, anaesthetists and psychologists. Supporting the teams are staff to help with documentation, data collection and photography and the teams work to strict protocols of clinical evidence.

Concentrating this broad range of skills in ‘centres of excellence’ should produce optimal results. Teams should ideally treat a minimum of 50 patients per year, so that a sufficient number of cases is available for a meaningful audit and, ultimately, to develop better care for this extremely deserving group of patients.

Incidence of cleft lip and palate

Cleft lip and palate is the most common craniofacial malformation, accounting for 65% of head and neck anomalies. Two divisions exist:

Amongst Caucasians, CLP occurs in approximately 1 in 700 births.2 Variations in reported incidence may be due to race, geographical region, socio-economic status and sex. Malformed foetuses are often spontaneously aborted, so under reporting of cases is likely. A survey of cleft care (CSAG) for the UK stated that poor documentation led to under reporting. In this report, the number of cases dropped between 1990 and 1995.3 The UK reported incidence is at odds with Europe, where there was an increase over the same time period. International increase in incidence is thought to be due to improved documentation of neo-natal mortality and an increased frequency of marriage involving partners with CLP. The incidence is now also on the rise in the UK, with a positive familial history in 40% of cases. Males are more commonly affected than females and the left side affected more than the right side. Isolated cleft palate only occurs in 1 in 2000 live births, affecting females more than males, and there is less of a genetic component.

Aetiology and embryology

The aetiology of CLP is still largely unknown, although both genetic and environment factors are thought to contribute to causing abnormality during embryogenesis. A positive family history exists in 20–30% of complete cleft cases. Racial factors also play a part, in that incidence in Negroid groups is less than in Caucasians; however, Asians show an increased incidence. Maternal age is important in that 40-year-old mothers have twice the incidence of clefting compared with mothers under 30 and winter conceptions also show an increased incidence.

The gene responsible for the expression of transforming growth factor beta 3 has been implicated in human cleft palate. Genetic predisposition to clefting may reach a threshold above which environmental factors will then come into play. The environmental factors shown to have a link to clefting include: maternal smoking; alcohol or drug abuse; as well as anti-epileptic medication, corticosteroids and intake of dioxins. Folate deficiency in pregnant women is thought to be related to increased clefting. Although the evidence for this is not conclusive, folate supplements are often prescribed.

The lip is formed by fusion of the left and right maxillary process. Breakdown of the epithelium allows mesenchyme to invade from each process and fuse. The fronto-nasal process develops into the pre-maxilla in front of the incisive foramen and the alveolus between the canines. The lip and pre-maxilla constitute the primary palate. Lip development occurs at 6 weeks intra-uterine life and the palate is formed at 8 weeks. At this point, the palatal shelves of the maxillary process hang vertically with the tongue in between. As the neck starts to extend, the tongue moves downwards, causing changes in the tension of the palatal shelves that appear to ‘flip’ up and fuse with each other and with the primary palate anteriorly. The hard and soft palate constitutes the secondary palate.

Many different factors need to interact at exactly the right time for fusion to occur successfully and to be complete. If an environmental insult occurs at the time of embryogenesis, a cleft may result. Examples of environmental factors include anti-convulsant drugs, folic acid deficiency and steroid therapy.3

In females, transposition of palatal shelves occurs more slowly, therefore allowing more opportunity for environmental insults to happen. Hence isolated cleft palate is more common in females. Submucous clefts of the palate occur due to an inadequacy of mesenchymal ingrowth under the fused palate epithelium.1

Classification

Several classifications of CLP exist but, owing to variation in clinical presentation, it is often better to describe the deformity in words. In the UK, the LAHSAL system has been adopted and recommended by the Royal College of Surgeons.1 Using the LAHSAL code, the mouth is subdivided into six parts, each represented by a letter:

The first character in the code is for the patient's right lip and the last for the left lip. The LAHSAL code indicates a complete cleft with a capital letter, an incomplete cleft with a lower case letter and no cleft with a dot.

For example:

Managing and providing care for CLP patients

Care often begins pre-natally and continues until adulthood. Foetal ultrasound allows some clefts to be diagnosed prenatally (Figure 1). Referral to the CLP team can be made immediately and a specialist nurse should visit as soon as possible. Parents may express shock, anger, guilt and denial on hearing about their child's facial disfigurement and this is a time for reassurance, support and explanation. The CLP team contact can describe the structural defect and this will help parents to understand how neonates with CLP feed and the proposed surgery. Parents may well be confused and highly emotional initially and, when they meet the cleft team, they can be shown photographs and diagrams to aid in their understanding. In the UK, the cleft lip and palate association (CLAPA) is a voluntary support group of parents and individuals who can provide support to new parents in conjunction with specialist nurses. Liaison between hospital professionals and the parents will be established and the specialist nurse will be actively involved, relaying information and advice to parents on a regular basis.

Psychological management

Specialist psychologists have an important role within cleft teams. People with facial disfigurement may be stigmatized socially, may become withdrawn, have low self-esteem and may be victims of bullying. Psychological counselling starts pre-natally with the parents of the affected baby; further intervention may be required when the child is at school, when the specialist nurse on the cleft team will be able to counsel the parents on coping strategies that may be employed. Finally, adulthood has its own set of challenges and may require psychological intervention.1

Feeding

The CLP team helps parents in understanding the CLP deformity, improves understanding in managing their child's needs and educates them in a variety of feeding methods. In cases where the cleft is discovered post-natally, the newborn's struggle to feed may cause concern as to whether the child is obtaining the right nutritional requirement. A complete examination of the child is always carried out to exclude accompanying medical problems, such as cardiac, neurological and respiratory pathologies. The CSAG report states that a feeding assessment should be undertaken as soon as possible in the newborn.3

A newborn with CLP will have an irregular, oval-shaped mouth and may struggle to get complete lip seal to the mother's nipple or bottle teat. The creation of negative pressure to allow suction will become a problem. Specialist nurse involvement will allow the mother to discover new feeding methods for her newborn child that will be particular to her and the baby. This should allow proper nutrition and will certainly reduce maternal distress (Figure 2). Feeding problems can initially be addressed with the use of a medicine dropper or customized rubber nipple. In some patients with a wide and complete palatal defect, a removable obturator may need to be provided to assist the feeding process.

The specialist nurse role is vital from the pre-natal period to adulthood. Nurses can provide advice and assistance, prepare patients for surgery and arrange ward visits, demonstrate feeding techniques and provide a wealth of beneficial information to the parents.

Initial surgery

Surgery for CLP patients is undertaken to restore appearance, function, speech, breathing ability and ingestion. A variety of surgical protocols exist in correcting CLP.2

Assistance with hearing difficulties

Patients with CLP may have associated middle ear problems, affecting the ventilator function of the eustachian tube. The latter may be short in length and dysfunction can lead to otitis media with effusion or ‘glue ear’. To manage this condition, ventilator tubes or ‘Grommets’ are placed under GA into the tympanic membrane. Palatal surgery is aimed to improve eustachian function and regular assessment of hearing is absolutely essential.

Assistance with speech difficulties

Cleft palate patients suffer from repeated episodes of otitis media and also may have persistent palatal fistulae, both of which can contribute to altered speech. There may be velopharyngeal incompetence, where the soft palate has poor contact with the posterior pharynx, with incomplete closure of the nasal airway. As a result, air will pass into the nose and hypo-nasality (resonance) will occur. Speech difficulties in CLP patients are related to complex structural defects, leading to velopharyngeal insufficiency, occlusal aberrations, reduced neuro-motor function and slowed psychosocial development. Formal speech assessment is done initially at 18 months and, if not the case already, the ENT surgeons may intervene. Repaired cleft palates may not have completely sealed off the nasopharynx, leading to air escape and nasal vocal intonations, in which case the surgeons may have to carry out nasendoscopy and phayngoplasty at around 4–5 years.1 There is always a dilemma in timing of both the hard and soft palate closure. From a speech perspective, early closure is desirable, however, from a growth perspective, later closure would be preferable.

Speech therapists are an important component of the CLP team who will assess speech and language difficulties from birth until adulthood. They help support parents, diagnose ‘babble’ sounds, study social interaction, examine a child's play skills and assess language skills using audiovisual assessment. They can help the family liaise with useful external groups, including nurseries and education centres. Speech therapy is tailored to meet the individual needs of each CLP patient, resulting in improved communication in as many cases as possible. Video fluoroscopy is a commonly used tool to allow the speech therapist and the plastic surgeon to assess the nature of nasal escape and to formulate the most appropriate treatment plan.

Dental and orthodontic management

The development of tooth germs occurs at around 7 weeks of inter-uterine life. This process may become disrupted around the cleft site, leading to a number of different dental anomalies including:

The timing of intervention in CLP patients

During infancy, a ‘no treatment’ approach is generally considered to be appropriate, owing to the lack of hard scientific evidence which shows a benefit of intervention. In some cases, a pre-surgical orthopaedic appliance is made. This is a removable appliance used to:

It is placed prior to surgical lip closure and sometimes worn post-surgically for a few months, to keep the tongue out of the cleft area (Figure 3). As it is a removable appliance, it can be removed and cleaned thoroughly. After 2 months of wear, the acrylic is sometimes trimmed to allow room for the pre-maxilla to develop.

Dental impressions of infants can be challenging and require good preparation (Figure 4). The infant should be held, lying flat and a silicone impression taken with a fixed, perforated tray to maximize retention. The silicone material is extended into the nasal chambers and the cleft undercuts, which will contribute to retention of the appliance. Good suction should always be available and the impression material should be thoroughly removed from the cleft and nasal area. This is something that could be done in the operating room environment with pre-oxygenation of the infant before the impression.4

Surgical lip closure is usually carried out between birth and 3 months and palate closure usually between 9–18 months. Alveolar bone grafting is usually carried out around 9 years of age, before the permanent canine starts to erupt.

General dental care of CLP patients

Dental care of CLP infants involves teaching parents about a healthy diet and adopting good oral hygiene practice. Parents are shown how to lift the repaired lip and slide the toothbrush along the gums to help with cleaning. It is also important to show the patient and the parent how to use an inter-space brush effectively, as well as giving advice about fluoride mouthrinse or topical fluoride varnish applications. Every effort must be taken to reinforce dietary and oral hygiene advice and the use of prophylactic fissure sealants is especially important in this very deserving group of patients. The biggest challenge is to keep the parents and patients motivated, as the GDP is just one of many specialists with whom the family comes into contact.

General dentists are in a good position to get to know CLP patients as individuals and maintain good communication to build-up confidence and interaction. GDPs may be the first to notice incipient behavioural problems that may result from teasing and bullying and can provide further advice or a timely referral to the CLP team.

In the primary dentition stage, removal of prematurely erupting permanent teeth is best avoided, as this may lead to unwanted space loss, leading to later crowding. Providing pulp treatment and stainless steel crowns for carious primary molars would preserve space within the arches. At 5 years of age, orthodontic records are taken on all cleft patients for audit purposes and these should include models and clinical photos.

It is also important that routine dental care continues, providing fissure sealants on recently erupted teeth and reinforcing intensive oral hygiene instruction to reduce gingival inflammation during orthodontic treatment. At 10 years, further dental records are taken to monitor jaw growth, dental development and success of the bone graft. These records can also be used for audit purposes.

Role of the cleft orthodontist

The cleft orthodontist is vital in the overall oral management of CLP patients. They are sometimes asked to provide pre-surgical dento-facial orthopaedics prior to lip repair (Figure 5 a–c); align the maxillary dentition with a fixed appliance, if irregular teeth traumatize soft tissue (6–7 years); are required for preparation for alveolar bone grafting (8–9 years); comprehensively align teeth in both arches (12 years); and prepare the patient for orthognathic surgery with fixed appliances (16–17 years) and detail the occlusion post-operatively. They may also occasionally be asked to provide palatal lift appliances in patients with velopharyngeal dysfunction in an attempt to lift the soft palate and seal the velopharyngeal space, reducing hypernasal speech.

Alveolar bone grafting

Between 8 and 9 years of age, orthodontics is initiated in preparation for alveolar bone grafting. Extraction of teeth is kept to an absolute minimum, only removing teeth obstructing the surgical field, or to aid healing and primary closure of the bone-grafted site. Arch expansion may be required to correct the arch form, to provide space for unerupted teeth, to correct a crossbite and to provide adequate room to place a graft. Arch expansion is ideally done with a fixed quadhelix, attached to bands on the upper first molars, however, some operators still persist in using a removable appliance to attempt to produce adequate arch expansion. Fabrication of a stent to maintain the arch width is often recommended, and this also serves to protect the bone graft in the recipient site.

This is a technique used to repair a cleft alveolar defect with cancellous bone, which is usually taken from the iliac crest. Bone grafts will allow permanent canine teeth to erupt into an intact arch (stabilizing the graft) and will also add support to the alar base (Figure 6 a–d). This technique will stabilize a mobile pre-maxilla and hopefully close off any oro-nasal fistulae that may be present. The procedure is usually carried out at about 9–10 years after transverse dimensions have been pre-surgically corrected with a fixed expander, if necessary, and some anterior tooth alignment has been achieved.

Bilateral complete CLP may require reinforcement, owing to potential mobility post graft, with the use of rigid archwires placed before grafting. All extractions in the planned graft area should have been done at least a month before the procedure to enable good mucosal healing. Occasionally, a supernumerary tooth will lie in and around the cleft and will need to be removed in the surgery. Complications of alveolar bone grafting do exist, in that the graft may fail to be incorporated and, occasionally, the formation of a granuloma may require subsequent excision.2

Dentofacial development

Facial growth of CLP individuals is different from non-cleft patients, with reduced forward facial growth relative to the cranial base, particularly in the maxilla. As a result, a retrognathic maxilla and decreased lower facial height will often be seen. Once fully grown, further orthodontic and orthognathic intervention may be needed to correct the jaw discrepancy fully and to bring the teeth into an improved position. Bringing forward the maxilla, however, may affect velopharyngeal function and the opinion of speech therapists is always advisable. In some instances, a balance between appearance and function will need to be found.

Orthognathic surgery

Once facial growth is largely complete, an assessment of the extent of mid-face retrusion is made. The potential for further growth is assessed before deciding on the appropriateness of orthognathic surgery. Complete space closure in the region of the cleft may not be feasible and a restorative opinion, regarding a possible prosthetic alternative, should always be sought.

Orthognathic surgery involving CLP patients is normally undertaken once facial growth is complete (17 years for females; 18 years for males). Surgery before this would be premature, as subsequent growth would worsen the underlying facial deformity, leading to further aesthetic and possible psychosocial problems. The orthodontic aim is to align and level teeth over the corresponding basal bones of the mandible and maxilla before surgery to correct the skeletal discrepancy and the malocclusion fully.

Surgery may involve either the maxilla or the mandible or both jaws. Mandibular osteotomy with rigid fixation (bone plates and screws) is followed by maxilla repositioning and closure of any oro-nasal fistulas. Orthognathic procedures on both unilateral and bilateral cleft deformities can be carried out with a maxillary step osteotomy. This allows accurate determination of the advanced and vertically repositioned maxilla. The stabilization of maxillary osteotomies is particularly more difficult in and around the cleft defect. During the procedure, adequate mobilization of the maxilla is essential, with minimum tension and extreme care when fixing in its new position. Bone grafting can be used to fill in any osseous defects.5

Distraction osteogenesis

Surgical movements to correct craniofacial deformities can sometimes be difficult owing to scarring in the surrounding soft tissues. Cases may be so severe due to soft tissue restrictions, that movements beyond the scope of routine orthognathic surgery may be required. To circumvent this, the use of ‘slow’ distraction osteogenesis may ultimately change the way we deal with these problems.

This works by intermittent forces being applied to osteotomized bone ends. There is tension within the healing callus, stimulating bone formation, which is then followed by a period of consolidation. Distraction osteogenesis may help in treating children with severe facial deformity by reducing the overall amount of immediate surgical maxillary advancement needed. Gradual, controlled displacement across the surgical fracture is referred to as ‘transport’. The gap created between the bone ends then fills in with immature non-calcified bone, after which the callus matures in the fixation period.

The current protocol for distraction osteogenesis is as follows:

There are numerous intra-oral systems to apply to the aforementioned traction and some of these are not without drawbacks. These include discomfort during activation, difficulty providing the correct vector of force and patient compliance. At present, this technique is not seen as an alternative for a conventional osteotomy procedure in routine cases.

Restorative provision

Quality restorative care will be required after orthodontic and surgical treatments have been completed. Treatment could be provided to fill a tooth space that could not be closed orthodontically or to reshape an existing tooth to maximize its aesthetics. Examples include tooth re-contouring, direct and indirect composite bonding, crown placement, laminate veneers and adhesive bridgework. These techniques make a canine/premolar look like a lateral incisor/canine (Figure 6e). Implants may constitute an excellent option to provide a definitive fixed replacement in cleft cases where the health of the other teeth is somewhat suspect and sufficient quality and quantity of bone exists. Implants should only be considered once growth has largely ceased in both arches.