CHARGE Syndrome, 2nd edn

Review by L Flood
Middlesborough, UK

In my time as an examiner, I never dared to ask about ‘CHARGE’ syndrome as, try as I might, I could never quite remember the problems suggested by each letter of the acronym. If ‘C’ was cardiac (it is not) and ‘H’ was hearing (the same applies), then how could ‘E’ be ear? I could not have recalled its description from my time as an examination candidate, is some excuse, as the term was only coined as recently as 1981.

I was therefore slightly puzzled when, having read the Contents page and list of contributors, the first chapter took me straight into descriptions of the multisensory problems of the condition, but without a clear definition and diagnostic criteria. This was my fault, having missed (and it is easily done) a really well written ‘Introduction to CHARGE Syndrome’. Now I learnt the features associated with that acronym, the wide spectrum of these and the challenges in diagnosis. Even the typical genetic mutations are not universal and are unreliable in what is after all a clinical diagnosis. The commonest features now accepted and included, such as cranial neuropathies and anosmia, do not easily lend themselves to extra letters. This proves to be the commonest cause of deaf-blindness, and not Usher’s syndrome as I would have suggested.

Throughout the book, the emphasis is on the challenge of ensuring communication and normal development in children who can have deficits in all their senses. As survival has dramatically improved, this has become fundamental to care, and just what can be achieved is demonstrated in later chapters.

There are chapters on the cardiovascular, visual, gastrointestinal and endocrine problems of the syndrome, of less relevance to readers of our specialty. These are, however, not too technical, and would be appropriate for a general medical reader or even an enquiring lay parent. What is striking is just how much of this would directly appeal to the otolaryngologist. Of course, we expect to hear much about addressing the hearing problems or correcting choanal atresia, but might be less aware of anosmia, vestibular dysfunction, upper airway obstruction and sleep apnoea, all having at least one chapter each.

The second half of the book relates to developmental issues, language and communication systems, and psychological issues, taking the child from birth to adulthood. This second edition has been well updated, judging by the references cited, and is of great value to the multidisciplinary team essential for social development. The book reminds us that ‘all behaviour is communication’ and stresses this throughout.

This book will appeal to the paediatric otolaryngologist, to the speech and language therapist, but especially to the trainee in ENT. This is a very thought-provoking read, but be sure not to miss the introductory pages!

Amazon Link: CHARGE Syndrome, 2nd edn
By purchasing books via this link you will help to fund the JLO