ACQ Vol 11 No 1 2009

p eech

athology

ustralia

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:

hypernasal tone

nasal emission of air

nasal turbulence

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