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Treatment of infants with craniofacial malformations
  1. Cornelia Wiechers1,2,
  2. Tabea Thjen2,3,
  3. Bernd Koos4,
  4. Siegmar Reinert2,5,
  5. Christian F Poets2,6
  1. 1 Department of Neonatology, Tuebingen University Hospital, Tuebingen, Germany
  2. 2 Interdisciplinary Centre for Cleft Palate and Craniofacial Malformations, Tuebingen University Hospital, Tuebingen, Germany
  3. 3 Physical Therapy Centre, Tuebingen University Hospital, Tuebingen, Germany
  4. 4 Department of Orthodontics, University of Tübingen, Tübingen, Baden-Württemberg, Germany
  5. 5 Department of Craniofacial Surgery, Tuebingen University Hospital, Tuebingen, Germany
  6. 6 Department of Neonatology, University of Tuebingen, Tuebingen, Germany
  1. Correspondence to Professor Christian F Poets, Dept. of Neonatology, Tuebingen University Hospital, Tuebingen, Germany; christian-f.poets{at}med.uni-tuebingen.de

Abstract

Infants with craniofacial malformations (CFMs) are at increased risk of various clinical problems, including respiratory and feeding disorders, the result of which may be long-lasting. An improvement in clinical care can be achieved by prenatal diagnosis and interdisciplinary birth preparation. Feeding problems may particularly be stressful for the family and require a team approach involving nursing staff, speech therapists and nutritional specialists to anticipate, avoid and treat sequelae such as failure to thrive or recurrent aspirations. Special techniques (eg, optimisation of breast feeding, alternative feeding methods or manual orofacial therapy) may be used individually to improve feeding competence; supplemental nutrition via a nasogastric or gastrostomy tube may be temporarily necessary to ensure adequate weight gain. The high prevalence of respiratory disorders in infants with craniofacial abnormalities requires anticipation and screening to prevent growth failure and neurological deficits. Treatment of upper airway obstruction varies widely, strategies can be divided into non-surgical and surgical, and in those aimed at widening the pharyngeal space (eg, prone position, palatal plates, craniofacial surgery) and those bridging the narrow upper airway (eg, nasopharyngeal airway, modified palatal plate, pneumatic airway stenting, tracheostomy). The complex management of an infant with CFM should be performed by a multidisciplinary team to offer specialised support and care for affected families.

  • neonatology
  • physical therapy modalities
  • patient care team

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What is already known on this topic?

  • Craniofacial malformations are often associated with failure to thrive and intermittent hypoxia/obstructive sleep apnoea.

  • Treatment requires an interdisciplinary approach, often only possible in large referral centres.

What this study adds?

  • Feeding problems are best avoided through finger feeding or bottles allowing control of milk flow to prevent failure to thrive and recurrent aspiration.

  • Obstructive sleep apnoea may be treated by an orthodontic approach that bridges the narrow upper airway and provides a growth incentive to the mandible.

Introduction

Head development is one of the most complex processes in embryogenesis. A large number of genes are involved in its tissue differentiation and proliferation, and a disturbance or interruption of this growth can lead to a variety of craniofacial malformations (CFMs), for example, cleft lip/palate, craniosynostosis, craniodysostoses or several other craniofacial syndromes.1 2 Up to a third of all childhood malformations affect the face and the skull. CFMs can lead to various clinical problems early in life, as they can impair breathing, feeding, hearing, vision, speech and neurological development. We searched PubMed to provide paediatricians with an overview of the clinical problems and current treatment options for CFMs in infants.

Prenatal diagnosis and birth preparation

Prenatal detection rates vary, but are generally low. Ultrasound identification rates are 0%–70% for cleft lip palate, 7%–22% for Robin sequence (RS) and up to 60% for craniosynostosis syndromes.3–6 This is largely due to a wide variation in phenotype, which precludes establishing simple and specific markers for routine prenatal screening.

Nevertheless, early prenatal detection of a CFM can improve subsequent treatment quality. A prenatal diagnosis may initially increase parental distress, but gives time for appropriate counselling and a discussion of disease-specific therapeutic options, which will help parents better prepare for postnatal treatment7 and clinicians to anticipate potentially life-threatening airway obstruction immediately after birth.8 This includes prenatal transfer to a centre experienced with the so-called EXIT-procedure, where the airway can be secured while oxygen supply continues via the placental circulation.9

Feeding problems

Infant feeding requires coordination between breathing, sucking and swallowing, which is easily disturbed by neurological or anatomical alterations. Feeding disorders are divided into prolonged feeding times (>30 min for one bottle feed), reduced oral intake, unsafe oral feeding and precipitation of respiratory compromise.10 11 The incidence of feeding problems in infants with CFMs is high, but detailed epidemiological studies are scarce. For infants with cleft lip/palate, rates of poor feeding vary from 25% to 73%11 12 and are even higher in infants with RS.11 13–15 Therefore, feeding disorders are an important concern for the multidisciplinary team, and the feeding interaction between parents and infant is considerably more difficult and stressful.16

Reasons for feeding problems

An ability to suck and swallow sufficiently in coordination with respiration is necessary for infant feeding. Any disruption of these functions should be identified to anticipate, prevent and treat ensuing risks, for example, failure to thrive, breathing difficulties during feeding or recurrent aspirations.

Feeding a healthy, term neonate is a complex process. After the infant finds the nipple with the help of the rooting reflex and starts sucking, he creates a partial vacuum through the lips and tongue, with the milk then being emptied by sucking while compressing the breast between tongue and jaw (nutritive sucking). A fluid bolus is then formed and transported safely through the upper digestive tract. Although intrauterine swallowing already starts at 15 weeks of gestation, coordination of sucking, swallowing and breathing only develops fully at 32–34 weeks.17 A history of polyhydramnios during pregnancy, as a symptom of syndromic disease or an additional neurological abnormality, may be an indication of later feeding and swallowing difficulties. Various mechanisms may lead to feeding difficulties in infants with CFMs (table 1).

Table 1

Functional deficits in infants with craniofacial malformations and treatment options

In case of an anatomical abnormality, for example, unilateral or bilateral cleft lip, infants may have difficulty learning how to latch onto the nipple18 which may prevent them from achieving a sufficient oral vacuum for adequate sucking due to an incomplete separation between the nasal and oral cavity during feeding. The severity and size of a cleft palate usually correspond to the degree of feeding difficulties, because the wider the cleft palate, the smaller the area available to serve as an abutment for the nipple. Compared with healthy infants, those with an unrepaired cleft palate have a reduction in sucking efficiency, and a shorter length of individual sucks and increased suck-swallow ratio (eg, 3:1 vs 1.2:1).19 In patients with RS, the main causes of feeding difficulties are an exacerbated upper airway obstruction and difficult placement of the nipple on the tongue body for efficient sucking resulting from glossoptosis.8 Like in other infants with micrognathia, a maxillary-mandibular discrepancy also plays a role in this context.

In infants with functional sucking and swallowing abnormalities, which are particularly common in infants with syndromic CFMs, a detailed medical history, clinical examination and careful feeding observation help to identify the type of nutritional difficulty.16 Suggestive signs are an increased salivation due to poor swallowing and signs of aspiration or other neurological abnormalities on physical examination. In case of severe difficulty swallowing or recurrent coughing or gagging, videofluoroscopy or fibre-optic endoscopy may be useful to classify the disorder or to illustrate possible anatomical anomalies.

Treatment of feeding disorders

To individualise the treatment approach for each infant, the aim of the feeding management should be to improve the feeding abilities of the infant and his caregivers and to achieve physiological stability while feeding.16 As the daily nutritional intake should result in adequate growth and development, a supplementary diet via an alternative feeding strategy is sometimes necessary to ensure adequate growth (eg, nasogastric or gastrostomy tube). The focus of the treatment plan should be on identifying causes that can be improved with special feeding techniques (eg, optimisation of breast feeding, alternative feeding methods) or corrected (eg, upper airway obstruction, cleft lip/palate), or on promoting and training oral motor skills.

Feeding techniques can optimise oral nutrition, for example, the cleft can be covered by the soft breast tissue or a finger to improve latching the nipple in infants with cleft lip and an incomplete lip seal, enabling breast feeding in most cases.18 The use of a palatal plate in infants with cleft palate can restore separation between the oral and nasal cavity, thus allowing for exerting pressure on the nipple to facilitate milk flow. Nevertheless, exclusive breast feeding is rarely successful in infants with CFM.11 As a consequence, prolonged feeding times with an insufficient milk supply or fatigue during feeding may occur and assistant milk flow at the breast (supplemental nursing system) or alternative feeding methods (eg, by feeder or soft-sided/squeezable bottle) become necessary.16 In a Cochrane review, squeezable bottles appeared easier to use than rigid ones for infants with cleft lip and/or palate, but there was no difference in infant growth between bottle types.12

For children with functional abnormalities such as coordination or swallowing disorders, treating feeding difficulties may be even more challenging.16 Good cooperation between caregivers and nurses, lactation consultants, speech therapists or physiotherapists is of particular importance. To initiate and maintain a rhythmic suck-swallow pattern, infants may benefit from the gentle, supportive squeezing of the feeder to create a flow of milk and stimulate suction.16

Orofacial functions depend on the interaction between hard and soft tissue and neuronal control. Manual orofacial therapy can help in stimulating the interaction between different functions needed for sucking and swallowing.20 Combined use of the Tuebingen palatal plate, feeding training and Castillo-Morales therapy helped to reduce the proportion of infants with isolated RS needing nasogastric tube feeding from 66% on admission to 8% at discharge during a median hospital stay of 19 days.13 This approach is based on the form-follows-function paradigm, that is, that training of the orofacial musculature exerts a growth stimulus on the mandible sufficient to induce catch-up growth over time.21

Other nursing interventions such as frequent burping or positioning the infant in an upright or elevated lateral position to minimise the effects of nasal insufficiency or glossoptosis may also be helpful.16 18 In order to stabilise the jaw during suckling, it may be beneficial to support the infant's chin during breast feeding or bottle feeding.

Type of food

Mothers should be encouraged to feed their own breast milk because of its numerous benefits,22 including advise by a lactation consultant regarding positioning, controlling milk supply and expressing milk for supplemental feeds.18 The majority of mothers of infants with cleft palate are unable to exclusively breastfeed,11 but about 50%–76% of their babies receive breast milk over some period of time,11 23 sometimes with the addition of fortifiers to ensure adequate weight gain.13 If there are signs of gastro-oesophageal reflux, thickened milk is a therapeutic option; in individual cases such thickening can also trigger swallowing.

Respiratory problems

The prevalence of respiratory problems in patients with CFM reaches 60%–100%8 13 24–27 and is not limited to syndromic CFM; also infants with isolated cleft lip/palate have an increased risk of breathing difficulties.24 The spectrum and aetiology of respiratory compromise in infants with CFM is broad and often multifactorial, including glossoptosis, choanal stenosis, jaw/mid-face hypoplasia and orofacial muscular hypotonia. While obstructive apnoeas predominate, central ones may also be involved, particularly in craniosynostoses (eg, Crouzon or Pfeiffer) syndromes, where they may be related to an associated Chiari malformation.28

Respiratory problems in infants with CFM occur predominantly during sleep. We will thus focus on treating obstructive sleep apnoea syndrome (OSAS) in these infants to prevent growth failure and neurological deficits.29

The respiratory assessment can be done by obtaining a sleep history, clinical observation and examination, taking into account signs of respiratory compromise such as enforced, frustrated or noisy breathing (eg, snoring, stridor), apnoea or tachypnoea, hyperextension of the head and increased sweating. Overnight polygraphy or polysomnography (PSG) is the gold standard for diagnosing OSAS. Continuous pulse oximetry recordings may give clues by detecting clusters of desaturation events, but pulse oximetry alone is not sensitive enough for detecting airway obstructions.30 PSG definitely identifies obstructive events and determines the severity of OSAS, thus infants at increased risk such as those with CFM should be screened by PSG. Progressive respiratory problems may develop only after the neonatal period; thus appropriate follow-up is mandatory.

The underlying anatomical causes of upper airway obstruction can be further investigated by laryngoscopy or, if necessary, by MRI or CT.

Treatment

Treatment of upper airway obstruction in infants with CFM varies widely, with preference for a specific option often depending on personal experience and available resources. Strategies can be divided into non-surgical and surgical, and in those aimed at widening the pharyngeal space (eg, prone position, palatal plates, craniofacial surgery) and those bridging the narrow upper airway (eg, nasopharyngeal airway (NPA), modified palatal plate, pneumatic airway stenting, tracheostomy).

Non-surgical therapies

Prone positioning

The (unproven) rationale here is that the upper airway is widened through the effects of gravity. A recent PSG study in 18 infants with RS found a significantly higher sleep efficiency in the prone position, but no significant reduction in OSA severity.31 As it is associated with an >10 × increased risk of sudden infant death syndrome, it is at best questionable whether parents may be advised to let their with baby RS sleep prone.

Nasopharyngeal airways

An NPA, inserted so that it ends just above the epiglottis32 33 has been used for over 30 years in RS infants.33 In a retrospective evaluation, more than 80% of 104 RS patients with moderate to severe airway obstruction were reported successfully treated with an NPA,33 but 80% required a gastric tube or gastrostomy for several weeks or months.33 34 Also, there is little evidence of effectiveness of NPA in syndromic RS.34 35 Hospital discharge usually occurs after a sleep study has shown resolution of OSAS and parents feel comfortable using it (eg, detecting tube obstruction and changing the NPA).

Palatal plates

For more than 25 years, groups from Germany and South Africa have been treating infants with RS with individualised palatal plates.13 36–38 In a retrospective study, 122 of 188 RS infants were treated with plates for suction and drinking; improved feeding and upper airway patency was reported, but no objective data were provided.37 A palatal plate with a velar extension (the TPP) was subsequently reported to open the airway by shifting the base of the tongue forward. Length and optimal angle of the velar extension are adjusted endoscopically, and effectiveness confirmed by PSG. In a randomised cross-over trial involving 11 infants with RS, effectiveness of the TPP versus a conventional palatal plate was confirmed with a decrease in the mixed/obstructive apnoea index (MOAI) from 14 to 4 compared with no change.36 In a retrospective study of 117 infants with isolated RS treated with TPP, median MOAI fell from 9 at admission to 2 at discharge and 1 at a 3-month follow-up (p<0.001). Apart from pressure marks on the alveolar maxillary ridge in the first few days of treatment, the TPP was well tolerated and used over the first 4–6 postnatal months.13 TPP appears to promote mandibular catch-up growth21 and cognitive development was in the reference range in 34 children with non-syndromic RS treated with TPP in infancy and tested at age 6 years.39 It also relieved airway obstruction in infants with syndromic RS or other CFM, sometimes after adding a tube or ring to the pharyngeal extension.27 38 Recent developments include a fully digital workflow for TPP production, replacing the at times cumbersome and risky conventional impression taking.40

Pneumatic airway stenting

Reports on using non-invasive respiratory support in RS infants stem predominantly from France.41 42 Although reported effective, it involves dependency on a constant power supply, making families less mobile. There are also reports of poor compliance and mid-face hypoplasia using continuous positive airway pressure (CPAP) in children.43 The latter may be overcome by using high-flow nasal cannula oxygen instead of CPAP, but studies on RS infants are limited.44 45

Surgical interventions

Surgical therapeutic options are especially used when upper airway obstruction cannot be sufficiently relieved conservatively, but treatment protocols differ across institutions.

Mandibular distraction osteogenesis

Particularly in the USA, infants with isolated RS are often treated by mandibular distraction osteogenesis (MDO). This involves bilateral cutting of the mandible and insertion of an internal or external distractor, with subsequent bone distraction by about 1 mm/d. Length and height of the lower jaw are increased over several weeks, thus widening the distance between the pharyngeal wall and the tongue base.46 MDO has been shown to prevent a tracheostomy (91.3% of cases), improve feeding difficulties (eg, a gastrostomy rate at discharge of 20%), OSAS severity and weight gain.15 47 48 However, the high incidence of postoperative complications (eg, scarring, alveolar nerve neurosensory damage, pin site infections, insufficient bone formation) should be considered and discussed with parents.47 49

Tongue lip adhesion (TLA)

This surgical approach to RS, also called glossopexy, was introduced in the 1940s. It tries to improve airway obstruction by stitching the tip of the tongue to the lower lip.15 50 Besides interfering with tongue mobility and swallowing, adverse effects include infections, dehiscence of the adhesion and need for secondary interventions to correct airway obstruction.51 A retrospective comparison between TLA and MDO in 18 infants showed that time to full oral feeding was longer (median 217 vs 44 days) and residual respiratory distress higher (67% vs 11%) with TLA, but duration of hospital stay was shorter (median 46 vs 60 days).50 In a recent prospective observational study in 28 infants with TLA or MDO, no significant differences were found in days to discharge (median 25 vs 30 days), change in weight percentile, time to full oral feeds postoperatively (median 45 vs 67 days) or residual OSAS (12.5% vs 0%).15

Mid-face advancement

In cases of severe airway obstruction due to mid-face hypoplasia, increased intracranial pressure (ICP) or threatening visual loss, infants with craniosynostosis may be treated with cranial surgery in the first year of life. Procedures such as frontal-orbital or mid-face advancement (eg, monobloc, Le Fort I, Le Fort III), distraction osteogenesis or cranial vault remodelling are used. To allow brain growth and to widen the airway, the synostotic sutures and the skull have to be opened and the bone partially reshaped. In a review of data on upper airway patency after mid-face distraction osteogenesis, favourable results were reported, including improved PSG and cephalometry results as well as decannulation rates.52

Tracheostomy

A tracheostomy can definitely and promptly relieve upper airway obstruction, yet it does not correct the underlying anatomical problem. Its indication should thus be carefully considered in each patient, involving a multidisciplinary team, and after other treatment options have proven insufficient, as mortality and morbidity are high in infants.53–55 In addition to complications like infections, accidental decannulation, increased rates of sudden death and impaired speech development, up to 10% of patients develop granulomas requiring endoscopic removal.54 Especially the increased nursing effort with frequent tracheal suctioning and hospitalisations, underestimation of tracheostomy duration and difficulties with decannulation affect families after discharge.55 In a retrospective cohort study, the cost of RS treatment by tracheostomy was threefold higher than for MDO (cost savings: $300 000 per patient over 3 years), mostly due to higher hospital-related costs, a higher incidence of gastrostomy tube placements and the cost of tracheostomy home care.56

Other clinical problems

Hearing disorders and vision impairment occur more frequently in infants with CFM and thus require adequate screening.57 58 In infants with hydrocephalus, intracranial venous outflow obstruction or craniocerebral disproportion, the risk of increased ICP is elevated and may require surgical intervention.

Conclusion

Infants with CFMs have a significantly increased risk of respiratory problems, feeding difficulties resulting in failure to thrieve and impaired vision, hearing or neurological development. These clinical problems should be anticipated and detected early; treatment will then require a multidisciplinary team. Last but not the least, informing, instructing and supporting affected families is indispensable, starting at prenatal counselling through hospital treatment and follow-up care.

References

Footnotes

  • Contributors CW wrote the first draft of this manuscript, TT, BK and SR revised the manuscript for important intellectual input. CFP initiated this work and revised the manuscript for important intellectual input.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Commissioned; externally peer reviewed.