22q11.2 Deletion syndrome: What nurses need to know

In 1965, Dr Max Cooper addressed the US Society for Pediatric Research to share experimental proof ‘that the lymphoid system is composed of two distinct cell populations’ (Stafford, 2009). In the audience, paediatric endocrinologist Dr Angelo DiGeorge (1921–2009) realised that Cooper's evidence explained the absence of cellular immunity despite the presence of antibody-producing cells in three athymic children whom DiGeorge had attended at Philadelphia's St Christopher's Hospital. In 1967, the DiGeorge syndrome entered the medical lexicon (Lischner et al, 1967). More widely known as 22q11.2 Deletion syndrome (22qDS), it is the most common chromosomal condition after Down syndrome.

Dr Suzanne Kelleher is a consultant general paediatrician working at Ireland's largest acute paediatric hospital – Children's Health Ireland, Crumlin – and in 2017 she established the national 22qDS clinic for children.

Dr Kelleher told Practice Nursing that 22qDS encompasses diverse complex medical, developmental, and mental health problems, with a prevalence of between 1 in 2000 and 1 in 4000 live births. ‘Given Ireland's current birthrate of just under 60,000 births there should be 15 to 30 babies born annually,’ she says, ‘yet based on the current population attending the 22qDS clinic it's likely that many children remain undiagnosed.’ Children born with 22qDS-associated congenital anomalies, like cardiac problems and cleft palate, are usually diagnosed in infancy, says Dr Kelleher. ‘However, there is a cohort of children who may present to their GP with, for instance, chronic constipation, anxiety, recurrent infections, scoliosis, or poor growth; their dentist (enamel hypoplasia, delayed eruption of dentition, severe dental caries); primary care therapist (speech delay, autistic features, ADHD); or may struggle at school (social anxiety, specific and generalised learning difficulties). These represent opportunities to refer for assessment and genetic testing but may not be considered.’