James W. Thelin

Cranial Nerve Manifestations in CHARGE Syndrome

Cranial nerve (CN) anomalies have been regarded as a major criterion for a clinical diagnosis of CHARGE syndrome for some time. However, there have been relatively few studies of the extent of this involvement. A detailed questionnaire (in French or English) was distributed to all physicians who participated in the 2001–2004 Canadian Paediatric Surveillance Program (CPSP), and who identified themselves as caring for an individual with CHARGE syndrome. Clinical data were collected from multiple sources for each individual, including evidence of CN dysfunction. Evidence for CN anomalies recorded by the clinical presentations and evidence from specialized testing, were: weak chewing and/or sucking (CN V), facial palsy (CN VII), sensorineural hearing loss (CN VIII), balance vestibular problems (CN VIII), and swallowing problems (CN IX/X). Data were analyzed as to the frequency of the CN anomalies and compared to the literature. At the time of this study, there were 99 individuals identified with CHARGE syndrome across Canada. The CHARGE syndrome diagnosis was confirmed by geneticists across the country. Gene testing was not available at the time of this study. Of these 92% exhibited symptoms of at least one CN anomaly, and 72% reported involvement of more than one. Isolated CN involvement was rare. Ascertainment was highest for CN IX/X, and lowest for VIII vestibular. The frequency of CN involvement was generally higher than that reported in the literature.

Factors related to the development of communication in CHARGE syndrome.

Parents of 28 children and a young adult with CHARGE syndrome participated in a survey on factors related to communication development. Information was obtained using a questionnaire and a follow‐up interview. Parents were asked to (1) specify their childs primary mode of communication, (2) judge the significance of the effects of physical disorders, sensory deficits, and behavior on development and communication, (3) provide lists of their childs conditions and disorders, and (4) provide information about intervention related to communication and education. Thirty‐nine percent of the participants (11/28) did not use symbolic language to communicate. The results suggest that factors affecting the majority of participants—physical disorders, vision loss, and hearing loss—may adversely affect communication ability. However, these factors did not preclude the development of symbolic language. Factors that were related to the development of symbolic language were success in the treatment of hearing loss with amplification, the ability to walk independently, and communication training initiated by 3 years of age. Other factors that may be related to the development of symbolic language are also discussed.