Need for establishment of multi-disciplinary management guidelines for children with CHARGE syndrome on respiratory support; 10 years’ experience in Cambridge University Hospital (CUH)

Abstract

Aim: CHARGE syndrome is a multisystem syndrome, with wide phenotypic expression, hence variety in management required. Mortality and morbidity are high. No current standard guidance on holistic care management of these children on respiratory support. Aim to identify the key areas of concern and to assess continuity of multi-professional care provided, allowing us to create clinically applicable standards of practice.

Methods: 10y (2011-2021) retrospective search of CUH records to identify children with CHARGE syndrome on respiratory support and their care plan.

Results: 10 children: on tracheostomy (4), Bipap via tracheostomy (1), NIV (1), nasal cannula oxygen (1); all had SALT and less ENT/respiratory input. Recurrent chest infections/PICU admissions; 2 on physiotherapy/ 2 on prophylactic antibiotics, 4 on mucolytics, none on cough assist. Most underwent airway examination, 3 choanal atresia repair and 1 further dilatation of stenosis. Unsafe swallow and abnormal dietary intake were common. 6 exclusively tube fed, 4 some oral intake. Secretion management included: suctioning (5), salivary gland botox (2) and glycopyrronium bromide (1). Limitations of this review include difficulty in drawing conclusions about care due to fragmented services and lack of information around intervention in community and local settings.

Conclusions: Numerous co-occurring challenges identified. Establishing a dedicated MDT within a tertiary setting, enabling a whole systems approach may improve access, care, and outcomes. Establishment of management recommendations to prevent pulmonary complications is essential.