ACQ Vol 11 No 1 2009

MULTICULTURALISM AND DYSPHAGIA

first surgical option and is considered from age 2 to 3 years. Hynes pharyngoplasty may also be indicated if VPD persists after cleft palate repair. As speech and language is frequently delayed in 22q11DS, it may not be till age 3 or 4 that VPD can be confirmed. If VPD still persists, pharyngeal flap surgery may be considered in subsequent years. Velopharyngeal surgery should reduce hypernasal tone and nasal emission as well as increase the ability to create intraoral pressure. Compensatory speech, including glottal and pharyngeal articulation which is typical in 22q11DS, should be addressed by speech-language therapy and is beneficial both before and after surgery. The severity of VPD in children with 22q11DS may be in­ creased by adenoidectomy. Adenoidectomy prior to diagnosis of 22q11DS is not uncommon (Lipson et al., 1991) as many children with the syndrome present with upper respiratory tract infections. Early identification of the syndrome might prevent this occurrence. Speech and language impairment Onset of speech and language is typically delayed in 22q11DS and children may be non-verbal until 2 or even 3 years of age. (Scherer, D’Antonio, & Kalbfleisch, 1999). Hearing loss is also commonly reported and was documented in 60% of children of which 15% were sensorineural and 45% had a conductive hearing loss, secondary to otitis media (Cable & Mair, 2003). Audiological evaluation is therefore recommended for all children with 22q11Ds. Learning difficulties, hearing loss and VPD may impact on speech and language development; however, specific speech and language impairment is evident in some children with the syndrome. Dyspraxia has been reported in 30% of children with 22q11DS (Mills, Gosling & Sell, 2006). While limited expressive language may persist until the age of 3, there is frequently rapid growth in development of language, typically between the ages of 3 and 4 years. By school entry most children are intelligible, but may continue to show difficulty in syntax, vocabulary, concepts, word finding and discourse (Solot et al., 2000). Early intervention is indicated and a total communication approach is encouraged to alleviate the frustration associated with limited expressive language. Although language comprehension is often delayed, it is not as severely affected as expressive language (Glasser et al., 2002). Motor development Development of motor skills can be delayed and children may benefit from occupational therapy and physiotherapy. Low motor tone may also impact on speech development. Learning skills Cognitive deficit is reported in nearly all individuals with 22q11DS. This ranges from mild to severe learning disability but is typically mild to moderate. Children with 22q11DS commonly have particular difficulty with mathematics and have been found to have special learning styles (Cutler- Landsman, 2007). Behaviour and personality Behavioural disorders are frequently reported and two quite distinct behavioural styles have been described: highly active and impulsive or shy, anxious and inhibited (Gerdes et al., 1999). Many clinicians recognise a particular personality associated with the syndrome. Autistic behaviours are also common. Psychiatric issues are reported in up to 30% of individuals with the syndrome. Symptoms may develop in early teens or

Summary Feeding and swallowing difficulties in 22q11DS can be complex and multifactorial, often not simply related to any one underlying problem. Feeding problems can be persistent, lasting throughout childhood. Detailed multidisciplinary assessment and management is critical in order to ensure oral intake is safely optimised at all stages of development. Both clinical and objective assessment is essential to ensure ap­ propriate management of feeding and swallowing difficulties. Speech, language and general development in 22q11DS Maeve Morrison Communication impairment is one of the most reported and commonly occurring features in 22q11DS and includes problems ranging from disorders of articulation, resonance, voice and hearing to delayed language comprehension and expressive language. Communication competence is also affected by cognitive ability and behaviour. In addition, learning difficulties and social behavioural disturbances are considered to be part of the profile of 22q11DS. Speech and communication issues may be the presenting features that alert the clinician to consider 22q11DS and the speech-language therapist is often the first to suspect the syndrome. Velopharyngeal dysfunction Velopharyngeal dysfunction (VPD) is one of the anomalies that occurs with most frequency in 22q11DS and is reported to occur in 70% to 80% of individuals with the syndrome. The terms velopharyngeal inadequacy (VPI) and velopharyngeal dysfunction (VPD) are both used to describe abnormality of velopharyngeal function. The speech characteristics of velopharyngeal dysfunction (which can be analysed through perceptual assessment of speech) are: n hypernasal tone n nasal emission of air n nasal turbulence n disordered articulation particularly affecting pressure sounds. VPD can be the result of a cleft palate or submucous cleft palate but it can also exist in the absence of a cleft. In fact in 22q11DS only 20% to 30% are reported to have a cleft palate or submucous cleft palate, while 40% to 50% present with VPDwithout cleft. Hypotonia of the velopharyngeal musculature, a deep pharynx and small or absent adenoidal pad have all been hypothesised to contribute to the VPD in 22q11DS. Children with 22q11DS should be referred to a cleft palate team to have a comprehensive assessment and to determine if velopharyngeal surgery is indicated. Instrumental assessment by videofluoroscopy can confirm VPD in speech and children can manage this procedure from about age 3 years. Nas­ endoscopy is another procedure used to investigate velo­ pharyngeal function, although children do not usually manage this until about age 6 years. Early surgical management of VPD in 22q11DS is re­ commended to provide better structure and function of the velopharynx for speech and language development. Surgery however may be delayed or contraindicated if the child has significant cardiac complications or illness. In Middlemore hospital, cleft palate repair is carried out at around 9 months of age. Submucous cleft palate is repaired when there are symptoms of VPD in speech. For individuals presenting with VPD in the absence of cleft, a Hynes pharyngoplasty is the

S p eech P athology A ustralia

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