ACQ Vol 11 No 1 2009

MULTICULTURALISM AND DYSPHAGIA

C linical I nsights 22q11 Deletion Syndrome (Velocardiofacial Syndrome) Alex Forsyth and Maeve Morrison

2 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,

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. 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.

S p eech P athology A ustralia

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