ACQ Vol 11 No 1 2009

p eech

athology

ustralia

MULTICULTURALISM AND DYSPHAGIA

gastroenterology, otolaryngology, respiratory medicine, and a

specialist behavioural feeding team.

The plethora of medical issues that can predispose a patient

with 22q11DS to swallowing and feeding difficulties is

significant. With palatal/velopharyngeal, cardiac, gastro

intestinal and airway problems among the myriad of difficulties

reported, it is often difficult to determine which underlying

system is affecting feeding and/or swallowing, and therefore

how to provide appropriate management. In addition, altered

immune status leading to respiratory infections and use of

preventative medications to reduce infection may make

differential diagnosis of respiratory compromise resulting

from aspiration especially difficult.

When reviewing the literature on 22q11DS, “feeding

difficulties” are acknowledged, with a general agreement in

prevalence of 30–40% (McDonald-McGinn, 2004). Most papers,

however, are level 1 or 2 evidence, being case studies, expert

opinion, or anecdotal reports. The term “feeding difficulties”

is often poorly described, leaving the speech and language

therapist with little clarity as to their nature or aetiology.

Some papers, particularly earlier references, attribute these

problems to three of the main medical issues associated with

this condition – namely velopharyngeal dysfunction (VPD),

cardiac problems and gastro intestinal issues. It has been

suggested that feeding difficulties were often transient,

resolving within the first year of life (Devrient, Rommel, &

Casteels, 2005). Feeding difficulties are increasingly acknow

ledged as persistent, often requiring long term (over 1 year)

tube feeding (Eicher et al. 2000).

Some of the more common feeding difficulties, and

strategies for their management, are outlined below.

2q11.2 microdeletion syndrome (22q11DS) is reported to

be the second most common chromosomal abnormality

following Down syndrome. However, routine genetic testing

has only been available since the early 1990s, so it is likely

there are undiagnosed cases within the greater population.

Figures continue to increase, with an agreed incidence of

1:4,000 (McDonald-McGinn, 2004) and prevalence being

predicted as high as 1:1,600 (Shprintzen, 2008). This condition

is also known as DiGeorge syndrome, velocardiofacial syn

drome, conotruncal anomalies syndrome, Shprintzens

syndrome, Cayler cardiofacial syndrome, and less favourably,

“Catch 22”. The majority of patients are found to have a

common deletion band 11 on the long arm of the chromosome

22. 22q11 DS can be inherited in an autosomal dominant

fashion, however the majority (93%) of cases are not trans

mitted by either parent (McDonald-McGinn & Zackai, 2004).

With over 180 different medical difficulties currently

reported in this syndrome (VCFS foundation, 2007), patients

require comprehensive multidisciplinary management. No

single anomaly occurs in 100% of cases. McDonald-McGinn

(2004) reports the most common problems to be cardiac issues

(76%), velopharyngeal dysfunction (VPD) (76%), immuno

deficiency (77%) and hypocalcaemia (49%). Significantly

delayed motor and language development are also frequently

reported in this condition. Solot et al. (2001) found that 90% of

children presented with delayed language at 2 years. Typical

facial characteristics include narrow eyes, long face, cupped

ears and bulbous nose, though the facial features are often

subtle.

Early management is often, by necessity, medically focused

– on account, for example, of cardiac problems – with the

speech and language therapist’s (SLT) involvement often

centring on feeding and early communication. As the child

moves through the preschool years into the educational

setting, the SLT may continue to be involved with persistent

feeding problems, but often the main focus at this stage

moves to velopharyngeal function and speech and language.

In the older child, the balance shifts towards higher level

language and social communication. Difficulties in these areas

may be exacerbated by emerging psychological and

psychiatric problems.

The following two sections are authored by two speech

pathologists working in specialist centres with a focus on

22q11DS. Alex Forsyth provides information on dysphagia in

22qDS while Maeve Morrison outlines speech, language and

other developmental issues associated with this syndrome.

Dysphagia in 22q11DS

Alex Forsyth

At Great Ormond Street Hospital for Children in London,

United Kingdom, there are over 300 children on the speech

and language therapy caseload with a confirmed micro

deletion of 22q11.2 (22q11DS). These patients are monitored

closely by a multidisciplinary team, including paediatrics,

immunology, genetics, speech and language therapy and

clinical psychology. There are active links to other teams

within the wider hospital, including cleft lip and palate,

linical

nsights

22q11 Deletion Syndrome (Velocardiofacial Syndrome)

Alex Forsyth and Maeve Morrison

Mother and 2 daughters, all with 22q11 deletion syndrome

Mother was diagnosed with 22q11DS after her older daughter

was diagnosed as an infant. The mother had submucous cleft

palate repair at age 3 and pharyngoplasty at age 6. She now has

no evidence of speech disorder. Her older daughter, now aged 6,

has had pharyngoplasty which has improved speech clarity. The

younger daughter, aged 4 years, is currently being investigated

for VPD. She continues to depend on gastrostomy tube feeding

and has had frequent hospitalisation for respiratory and

cardiac concerns.

Note the subtle facial features which are typical in 22q11

deletion syndrome.