The signs and symptoms associated with clefting depend on a variety of factors, including type and severity and whether both lip and palate are involved. Individuals with cleft lip and palate may experience difficulties in one or more of the areas listed below.
Normal velopharyngeal (VP) closure separates the nasal and oral cavities and allows for speech to be produced with a balance between oral and nasal resonance. VP closure allows for (a) oral resonance of vowels, liquids, and glides and (b) the buildup of intraoral pressure and facilitation of orally directed airflow required for production of the oral pressure consonants (stops, fricatives, and affricates). With normal resonance balance, nasal consonants /m/, /n/, and "ng" have nasal energy enhancement.
Velopharyngeal inadequacy (VPI; also referred to as velopharyngeal dysfunction [VPD]) may result from palatal clefting or from other noncleft causes such as mechanical interference (e.g., large tonsils), neurogenic etiologies, or velopharyngeal mislearning (see
Classification of Velopharyngeal Inadequacies [PDF] [Peterson-Falzone, Trost-Cardamone, Karnell, & Hardin-Jones, 2006; Trost-Cardamone, 1989]).
During speech production, VPI can cause hypernasality (a resonance disorder), nasal air emission, or both. Hypernasality and nasal air emission that result from an anatomical or physiological inability to close the VP port are considered obligatory (see "obligatory errors" in the Articulation subsection below).
- Hypernasality is an acoustic phenomenon that occurs when there is excessive resonance in the nasal cavity during production of vowels and vocalic consonants (i.e., the liquids and glides), due to coupling of the oral and nasal cavities. Hypernasality may increase in connected speech due to increased demands on the VP mechanism.
- Nasal air emission is an aerodynamic phenomenon resulting in audible or inaudible release of air from the nasal cavity during production of oral pressure consonants (i.e., the stops, fricatives, and affricates). It can be heard as nasal turbulence (nasal rustle), especially if the VP gap is small. Nasal air emission can also be caused by airflow through a palatal fistula into the nasal cavities.
(See e.g., Kummer, 2011, 2014a; Trost-Cardamone, 2013; Zajac & Vallino, 2017a.)
The resulting impact of VPI on articulation can be described as "cleft palate speech" or "cleft-type speech" and may include obligatory errors and/or compensatory (learned) errors.
Obligatory errors exist due to structural abnormalities including VPI and oral structural deviations (e.g., oronasal fistulas, dental deviations, or malocclusions).
They are not likely to improve until the structural cause is addressed though physical management (e.g., surgery or prosthetic intervention).
Obligatory errors include the following:
- Hypernasality on vowels, liquids, and glides (in severe cases, voiced oral consonants may also be nasalized).
- Articulation errors related to dental status or malocclusion (e.g., sibilant distortion with Class III dental malocclusion).
- Obligatory nasal air emission, due to VPI or fistula, that is consistent across the oral pressure consonants (stops, fricatives, and affricates). This pattern of airflow into the nasal cavity can persist postoperatively, despite adequate VP closure.
Compensatory errors are learned articulation errors. They are, for the most part, errors in place of articulation or direction of airflow.
These errors are thought to develop for a number of reasons, including the inability to generate adequate intraoral air pressure for consonant production, the presence of anterior structural anomalies, abnormal auditory–perceptual learning, or other factors.
Compensatory errors that developed due to anatomical inability to close the VP port can persist even after successful physical management of the VP mechanism.
- can exacerbate the perception of nasality and can inaccurately represent the child's ability to use the VP valve;
- are treated through behavioral intervention (i.e., traditional speech therapy) to teach proper articulatory placement/patterns; and
- can be described as those that
- occur below the level of the VP port and eliminate the need for valving of airflow at the level of the oral cavity and/or the VP port by allowing the individual to use the pharynx or larynx to valve air or pressure (e.g., glottal stops and fricatives [e.g., /h/], pharyngeal stops, fricatives, and affricates);
- occur in front of the VP port and involve backed place within the oral cavity (e.g., velarized alveolars and palatals, mid-dorsum palatal stops, fricatives, and affricates);
- use the opening of the VP port as part of the articulation for intentional nasal release of airflow and simultaneous bilabial, alveolar, or velar closure (realized as voiceless nasal fricatives); or
- involve ingressive rather than egressive airflow to eliminate the need for closure of the VP port (e.g., bilabial smacks, tip–alveolar clicks, and blade–alveolar fricatives)
Learned Nasal Emission
Learned nasal emission can be realized as nasal fricative substitutions or nasal emission that is co-produced with the target sound and may be associated with nasal turbulence or snorting.
The following two patterns may be see:
- Phoneme-specific nasal emission (PSNE) — nasal emission that is limited to one or more specific sounds.
- PSNE typically affects fricatives and may also affect affricates.
- It may occur in individuals without cleft palate.
- It is treated through behavioral intervention (i.e., traditional speech therapy).
- Persisting postoperative nasal emission — nasal emission that continues after surgical repair of the cleft palate when VP closure appears to be adequate.
- The individual continues to use the pattern of directing air into the nasal cavity.
- The clinician may need to consult with the team SLP to confirm adequate closure prior to behavioral intervention.
(See e.g., Golding-Kushner, 2001, 2015; Golding-Kushner & Shprintzen, 2011; Morgan & O'Gara, 2014; Peterson-Falzone, Trost-Cardamone, Karnell, &Hardin-Jones, 2016; Trost-Cardamone, 2013; Zajac & Vallino, 2017d)
Developmental Speech Errors
Children may also present with articulation and/or phonological errors that are unrelated to cleft palate. See ASHA's Practice Portal page,
Speech Sound Disorders: Articulation and Phonology, for a description of these error types and for detailed information on assessment and treatment.
When compared with age-matched peers without cleft palate, babies with cleft palate often show both quantitative and qualitative differences in their early prelinguistic and linguistic development.
Speech and language development in children with clefts depends on a number of factors, including hearing status, type and severity of the cleft, and the presence of a syndrome.
- Babies with cleft palate
- vocalize as frequently as do babies without cleft palate but may have delayed onset of canonical babbling;
- have less variety in the canonical forms produced;
- have a more restricted consonant inventory during babbling;
- demonstrate fewer total consonant productions (e.g., fewer oral stops and more glottal stops);
- have a preference for nasal glides and the glottal fricative /h/ (compared with typical preference for alveolar stop /d/);
- have delayed onset of first words and acquire words more slowly; and
- demonstrate preference for words beginning with sonorants (nasals, liquids, glides, vowels).
- As children get older,
- articulation may be characterized by a restricted phonetic inventory, sound substitutions/omissions, and compensatory articulation errors; and
- expressive language development can be delayed but often catches up with age (see ASHA's Practice Portal page,
Late Language Emergence).
- Children with a syndrome may experience more severe language disorders than children without a syndrome due to developmental delays associated with the syndrome.
(See e.g., Chapman, 1991; Chapman & Hardin, 1992; Chapman, Hardin-Jones, Schulte, & Halter, 2001; Estrem & Broen, 1989; Hardin-Jones & Chapman, 2014; O'Gara & Logemann, 1988; O'Gara, Logemann, & Rademaker, 1994; Olson, 1965; Peterson-Falzone et al., 2010; Scherer, Williams, & Proctor-Williams, 2008; Shprintzen, 2000; Trost-Cardamone, 2013)
Voice problems in children with cleft palate may include the following:
- Laryngeal hyperfunction from attempting to compensate for loss of pressure at the VP valve may result in muscle tension dysphonia with or without changes to the vocal folds (e.g., vocal nodules; inflammation and edema).
- Soft voice syndrome due to loss of pressure through the VP port or when the child reduces vocal intensity as a compensatory strategy to minimize or disguise hypernasality, nasal emission, or hoarseness (see, e.g., Peterson-Falzone et al., 2010).
Syndromic conditions associated with cleft palate may be associated with organic laryngeal disorders that affect voice. Examples include calcification of the larynx in Apert syndrome and vocal fold paralysis and glottic webbing in 22q11.2 deletion syndrome (Cavalli, 2011; Shprintzen, 2000; Shprintzen & Golding-Kushner, 2008).
Feeding problems can vary considerably in infants with clefting, depending on the type and severity of the cleft. In most cases, infants with clefts who are otherwise typically developing have normal pharyngeal swallowing function; once the milk reaches the oropharynx, the swallow is initiated with normal airway protection (Miller & Kummer, 2014; Shprintzen & Bardach, 1995).
Babies with cleft lip only typically have little feeding difficulty. Once the nipple is positioned in the baby's mouth, he or she can usually achieve sufficient compression of the nipple against the intact palate.
Babies with cleft palate—with or without cleft lip—may have more significant feeding difficulty. They are unable to separate the nasal cavity from the oral cavity and therefore cannot create the negative pressure necessary for sucking. In addition, they may have difficulty compressing the nipple to express milk because the palatal surface is not intact.
Potential problems associated with feeding difficulties include
- fatigue due to excessive energy expended during feeding;
- poor weight gain due to inadequate nutritional intake;
- excessive air intake; and
- nasal regurgitation (Dailey, 2013; Miller & Kummer, 2014; Peterson-Falzone et al., 2016; Zajac & Vallino, 2017a).
Infants with cleft palate and other craniofacial anomalies associated with genetic syndromes or sequences may have more significant feeding and swallowing difficulties (Cooper-Brown et al., 2008; Dailey, 2013). For example, children with Pierre Robin sequence are at increased risk for airway obstruction, dysphagia, and aspiration due to micrognathia and glossoptosis, which position the tongue toward or even against the posterior pharyngeal wall (Monasterio et al., 2004; Nassar, Marques, Trindale, & Bettiol, 2006; Shprintzen & Singer, 1992). In infants with 22q11.2 deletion syndrome, laryngeal, neurologic, or cardiac abnormalities may exacerbate feeding difficulties (e.g., Cuneo, 2001; Golding-Kushner & Shprintzen, 2011) and may contribute to fatigue (Cuneo, 2001).
Infants with cleft lip and palate who are preterm may have feeding and swallowing problems, which, in addition to those problems associated with clefting, place these infants at high risk for aspiration and poor nutritional intake.
More significant feeding and swallowing difficulties seen in these populations may be signaled by the following:
- Inability to establish suck–swallow–breathe sequence
- Arching of back or refusal of nipple
- Choking and gagging
- Increased respiration rate
- Oxygen desaturation
For more information, see ASHA's Practice Portal page,
Dental deviations and malocclusion can affect articulatory placement.
Dental deviations include the following:
- Congenitally missing teeth
- Malrotated teeth
- Ectopic teeth (abnormally located)
- Supernumary or duplicated teeth
Malocclusions include the following:
- Overjet/overbite, often associated with Class II malocclusion (upper teeth protrude beyond lower teeth)
- Underjet/underbite, often associated with anterior crossbite or Class III malocclusion (lower teeth protrude beyond upper teeth)
- Open bite (teeth do not fully occlude)
- Lateral (buccal) crossbite (lower teeth buccal to upper teeth)
Children with cleft palate with or without cleft lip may be at high risk for middle ear effusions and associated conductive hearing loss because of eustachian tube malfunction (Flynn, Möller, Jönsson, & Lohmander, 2009). The prevalence of middle ear fluid in children with unrepaired cleft palate has been estimated at more than 90% (Paradise, Bluestone, & Felder, 1969; Stool & Randall, 1967). Middle ear fluid is also seen in children with isolated cleft lip, although the prevalence is lower than in children with cleft palate (Deedler et al., 2011; Ruegg et al., 2015; Vallino, Zuker, & Napoli, 2008).
Other potential causes of conductive hearing loss include anomalies of the outer ear (e.g., stenotic or narrow external auditory canal) and anomalies of the middle ear (e.g., malformation of the ossicles; Zajac & Vallino, 2017b).
Fluctuating and long-standing conductive hearing loss is the primary concern for children with cleft palate. However, sensorineural hearing loss (e.g., due to inner ear anomalies), or mixed hearing loss may also be present, especially in children with syndromes (e.g., Stickler syndrome; Nowak, 1998; Zajac & Vallino, 2017b).
See ASHA's Practice Portal pages,
Permanent Childhood Hearing Loss and
Hearing Loss Beyond Early Childhood, for more detailed information about hearing loss. Will link to Practice Portal page on otitis media, currently under development.
Cleft lip and palate can have an impact on the individual's psychological and social well-being; this impact can vary on the basis of cultural beliefs.
Potential psychosocial impact can include the following:
- Psychosocial issues stemming from the realization of one's facial differences and the reactions/judgments of others. These issues include
- poorer self-concept;
- lower self-confidence;
- feelings of depression and anxiety; and
- difficulties initiating and maintaining friendships (see, e.g., Broder & Strauss, 1989; Noar, 1991; Ramstad, Otten, & Shaw, 1995; Turner, Thomas, Dowell, Rumsey, & Sandy, 1997).
- Impact of hearing loss on socialization—even mild hearing loss can result in missed portions of fast-paced conversations and can have a negative impact on social interactions (Anderson & Matkin, 1991).
- False stereotypes and misconceptions may lead to lower expectations in the classroom—for example, teachers may assume that the child has a lower IQ and consequently may lower the student's learning standards (Richman, 1978a, 1978b).
- Vulnerability to teasing/bullying and discrimination on the basis of appearance (e.g., Turner et al., 1997).
See Hunt, Burden, Hepper, and Johnston (2005) and Peterson-Falzone et al. (2010) for more detailed discussions of the psychosocial impact of cleft lip and palate.
Earlier theories suggested that craniofacial conditions may negatively affect mother–infant interaction and attachment (Clifford, 1969; Endriga, Speltz, & Wilson, 1992; Field & Vega-Lahr, 1984; Waechter, 1977). However, recent research indicates that the mother–infant relationship does not appear to be affected by facial differences associated with clefting (Maris, Endriga, Speltz, Jones, & DeKlyen, 2000). By 2 years of age, most infants with cleft lip and palate demonstrate secure maternal attachments (Maris et al., 2000).