Cleft Lip and Palate: Causes, Speech Effects, and Surgery

Introduction to Cleft Lip and Palate

When the upper lip and the top of the mouth do not join successfully early in pregnancy, a condition known as cleft lip and palate (CLP) is said to have occurred. The lip and palate develop independently, so it is possible for an infant to be born with just a cleft lip, just a cleft palate, or a combination of both. When there is a gap or opening extending from the lip all the way up to the nose, it is called a complete cleft lip. In some cases, some tissue remains beneath the nose, leaving a portion of the lip joined under the nose — this is referred to as an incomplete cleft lip. The roof of the mouth consists of two principal parts: a bony segment called the hard palate and a soft tissue and muscular part known as the soft palate. The separation may occur on the soft palate only or on both parts. When it occurs on both sides of the body it is known as a bilateral cleft; when it occurs on only one side it is called a unilateral cleft (Royal Children's Hospital, 2010).

Cleft lip and palate cut across a wide range of medical conditions involving teratogenicity or Mendelian syndromes. There has been positive advancement in identifying the environmental factors that accelerate the development of CLP; however, much of what characterizes this condition has yet to be isolated. The etiological nature of CLP is heterogeneous, making it crucial to conduct accurate studies of both the genetic and environmental characteristics that contribute to the condition. It is through this heterogeneity that various mutations have been identified through genomics (Dixon, Marazita, Beaty & Murray, 2011).

The orthodontic view of CLP presents this condition as extremely severe because the location of the cleft segments makes surgical exploration difficult without causing oronasal fistula. The immediate effects of CLP include defects in feeding and speech. It therefore becomes necessary to develop surgical criteria to help children with cleft palate and lip (Nyberg, Peterson & Lohmander, 2014). This means that intensive research is needed to develop effective medical strategies before the condition becomes more difficult to address.

Cleft lips and palates are among the most widely recognized congenital orofacial irregularities. They occur in roughly 700 babies born daily somewhere in the world, and the numbers continue to rise. Their origin has not been fully understood despite the recognized role that heredity plays. Clefts are inherited in a semi-continuous genetic model with variable expressivity. Cleft palate occurs in approximately one in 700 live births worldwide. It is believed that a wide gap in children with this type of cleft creates problems in building sufficient negative pressure within the mouth due to the presence of a large oronasal contact (Radojicic, Tanic, Jovic, Cutovic & Papadopoulos, 2014). Such contact also impairs normal blood circulation.

CLP During Infancy

When a baby is breastfeeding and milk enters the exposed upper respiratory passages, this may produce highly distressing outcomes such as the inhalation of excessive air, swallowing too much milk, and nasal expulsion, followed by gagging, coughing, vomiting, choking, and possibly cyanosis. These children, whether partially breastfed or not, are frequently exhausted and lethargic, which can adversely affect their development. Parental anxiety during nursing, along with the added stress caused by the infant's insufficient milk intake, should not be overlooked, as this can lead to poor weight gain. The mother-infant bond is also affected (Radojicic et al., 2014). This relationship and its healthy development are critically important for the growth of speech and language in children with cleft lip and palate, as discussed in the following section.

Speech and Language Characteristics

Speech and language development is a central concern for the child with a cleft lip or palate. The roof of the mouth plays a critical role in spoken communication. In the closed position, the palate normally seals firmly against the throat on the sides and back in order to prevent air from entering the nostrils. This seal is essential for producing a substantial number of consonants — including p, b, t, d, k, g, f, v, s, z, sh, and ch — and for overall speech clarity. If the palate does not function properly, air escapes into the nose, hindering consonant development and causing hypernasal speech. Some children also develop sounds not typically found in their native language, making their speech difficult to understand and frustrating for the child. Language therapy is typically helpful in eliminating these atypical sounds and establishing the phonemes of the child's native language (Royal Children's Hospital, 2010).

Children with repaired cleft lip may have an associated condition called Velopharyngeal Incompetence (VPI). This means that too much air escapes through the nostrils during speech, resulting in nasal resonance. This occurs because the reconstructed muscular portion of the palate is either too short or does not move adequately. Only through the trained evaluation of a speech pathologist can this condition be reliably identified. Diagnostic procedures such as nasoendoscopy and videofluoroscopy of speech may also be necessary to directly observe palatal movement during spoken discourse, which informs the most appropriate course of therapy (Revesz, Newman & Holtsberry, n.d.).

Auditory-perceptual assessment is the primary method for identifying detectable changes in speech nasality and provides information about velopharyngeal structure behavior during speech. This assessment approach makes it possible to identify specific manifestations of cleft palate that may be associated with velopharyngeal dysfunction (VPD). Because auditory-perceptual assessment is straightforward to administer, it is the most commonly used evaluation method (Paniagua, Signorini, Selaimen & Collares, 2013).

Conclusion

Experience demonstrates that surgical correction alone is not enough to guarantee the physical and psychological well-being of children born with clefts and other craniofacial conditions (Revesz et al., n.d.). Speech outcomes were not optimal at age five but showed clear improvement by age ten. This improvement appeared to be associated with secondary pharyngeal surgery, though it may also reflect the influence of speech therapy or the natural passage of time. The burden of treatment was considerable for many children, encompassing primary surgery, secondary velopharyngeal flap surgery, and a large number of speech therapy sessions. New audiological procedures have since been introduced and the content of speech therapy has improved. There is increasing focus on communication, though this raises the question of whether speech variation has sufficient environmental impact to warrant intervention — a question that should be addressed in future research (Nyberg, Peterson & Lohmander, 2014).

Looking ahead, advances in the molecular analysis of CLP will require deep integration of genetic studies and phenotyping, which is essential for categorizing the genes of affected individuals and designing preventive measures. Furthermore, genetic characterization exposes a synthesis of aetiologies that could improve access to both clinical procedures and prevention mechanisms (Dixon et al., 2011). Ultimately, a closer analysis of CLP cases suggests that the most fundamental medical approach to permanently addressing this condition rests on understanding its root causes. With that knowledge, detection, prevention, and treatment of the condition become substantially more achievable.

References

Dixon, M., Marazita, M., Beaty, T., & Murray, J. (2011). Cleft lip and palate: understanding genetic and environmental influences. Nature Reviews Genetics, 12, 167–175.

Mendoza, M., & Perez, A. (2013). Anatomical closure technique of the nasal floor for patients with complete unilateral cleft lip and palate. J Plast Surg Hand Surg, 47, 196–199.

Nyberg, J., Peterson, P., & Lohmander, A. (2014). Speech outcomes at age 5 and 10 years in unilateral cleft lip and palate after one-stage palatal repair with minimal incision technique — a longitudinal perspective. International Journal of Pediatric Otorhinolaryngology, 1663–1668.

Paniagua, L., Signorini, A., Selaimen, S., & Collares, M. (2013). Velopharyngeal dysfunction: a systematic review of major instrumental and auditory-perceptual assessments. Int. Arch. Otorhinolaryngol, 17(3), 251–256.

Radojicic, J., Tanic, T., Jovic, N., Cutovic, T., & Papadopoulos, K. (2014). Presurgical orthodontic treatment of patients with complete bilateral cleft lip and palate. Vojnosanit Pregl, 71(7), 693–699.

Revesz, S., Newman, H., & Holtsberry, K. (n.d.). Repair of cleft lip and palate: a parent's guide.

Royal Children's Hospital. (2010). Cleft lip and palate. Cleft Lip and Palate Information, 2–6.

The Center for Children with Special Needs. (2010). Critical elements of care: cleft lip and palate (5th ed.). Seattle, WA.