THE OCCULT SUBMUCOUS CLEFT – IMPROVING DETECTION BY EDUCATION

Editor,

Cleft palate is a congenital abnormality usually detected during the neonatal assessment. The most minor variant of cleft palate is known as a submucous cleft. Although submucous clefts share the feature of abnormal palate musculature, the overlying mucosa is intact and therefore they do not have the obvious gap in the palate associated with a complete cleft palate, which enables early diagnosis in the neonatal period. Calnan’s triad of clinical signs are said to be diagnostic of a submucous cleft; Bifid uvula, zona pellucida and a notch in the hard palate, but these are not always present in all patients. (Figures 1 and 2).

Fig 1. The zona pellucida – A blueish coloured area in the midline of the palate which represents the diastasis of the levator veli palatini muscles.

Fig 2. A bifid uvula.

Children can have an occult submucous cleft with less than three of these features and some have none at all. Clinical diagnosis is understandably difficult and submucous clefts are detected at a much later stage when children are overtly symptomatic with speech and language difficulties around school age.

Symptoms can vary depending on the age of the child. In babies, feeding difficulties and/or nasal regurgitation are common. As the child gets older they develop recurrent ear problems, including recurrent otitis media with effusion and hearing problems. Speech and language problems become more apparent as the child develops and are caused by the abnormal positioning and insertion of the palate muscles. All of these symptoms present to the general practitioner in the first instance. This tends to be over multiple attendances during early childhood if these symptoms are problematic. This therefore provides a key opportunity for earlier recognition and diagnosis and therefore earlier treatment.

The importance of detection of children with a submucous cleft is to ensure appropriate intervention at an early stage prior to potentially irreversible speech and language problems. Not all patients are symptomatic and those with only mild symptoms may not require surgery. Speech and language therapy may be sufficient to normalise speech in a proportion of these children but this still requires recognition and referral to the cleft specialist speech therapists. For those that do require surgical intervention, prompt diagnosis and operative intervention will ensure speech outcomes can be optimised.

A recent paper by Baek et al has shown that speech outcomes following surgical intervention are better before the age of 5.5-years, highlighting the need for early diagnosis and treatment.¹

We performed a retrospective review of children born with a submucous cleft in Northern Ireland. We found a significant increase in the number of patients with a submucous cleft over a 15-year period, from only 6 patients between 1988-1995 to 25 patients between 2003-2010. The average age for primary repair of the palate in the earlier cohort was 6 years which reduced to 5.2 years in the more recent cohort.² Highlighting once again that children with a submucous cleft in Northern Ireland are still being diagnosed at a late stage, when speech and language issues are hindering their progress during the early school years.

We urge a high index of suspicion for all general practitioners, paediatric and ENT specialists who are treating pre-school aged children with these symptoms. Any child presenting with repeated episodes of otitis media, nasal regurgitation or speech difficulties should prompt consideration of a diagnosis of submucous cleft. Examination of the palate may reveal the features described above and this warrants onward tertiary referral to the regional cleft team for further investigation and management.