Quality of life in adolescents and adults with CHARGE syndrome.

Health-related Quality of Life and the Impact of Childhood Neurologic Disability Scale were collected for 53 patients with CHARGE syndrome aged 13-39 years with a mean academic level of 4th grade. The most prevalent new and ongoing issues included bone health issues, sleep apnea, retinal detachment, anxiety, and aggression. Sleep issues were significantly correlated with anxiety, self-abuse, conduct problems, and autistic-like behaviors. Problems with overall health, behavior, and balance most affected the number of social activities in the individual's life. Sensory impairment most affected relationships with friends. Two contrasting case studies are presented and demonstrate that the quality of life exists on a broad spectrum in CHARGE syndrome, just as its physical features range from mild to very severe. A multitude of factors, including those beyond the physical manifestations, such as anxiety and sleep problems, influence quality of life and are important areas for intervention. © 2016 Wiley Periodicals, Inc.

Botulinum toxin injections into salivary glands to decrease oral secretions in CHARGE syndrome: prospective case study.

CHARGE syndrome is a genetic disorder caused by a mutation in the CHD7 gene on chromosome 8. Major clinical diagnostic criteria for this heterogeneous disorder include ocular coloboma, choanal atresia/stenosis, characteristic external and internal ear abnormalities, and cranial nerve abnormalities. Patients with CHARGE syndrome often have dysphagia and are at high risk for aspiration of both upper and lower gastrointestinal secretions. The following case-report describes the use of Botulinum toxin A (Botox) to reduce excess salivary secretions in a ventilator dependant infant who would have required a tracheotomy. Thereafter, Botox was used regularly (4-5 months) to decrease the salivary secretions. This case-report is unique in that it describes the intermittent and prospective use of Botox to reduce excess salivary secretions and prevent the resulting aspiration-related complications in an infant with CHARGE syndrome.

Postoperative airway events of individuals with CHARGE syndrome.

OBJECTIVE: CHARGE syndrome is a heterogeneous genetic disorder comprising multiple congenital anomalies. Major clinical diagnostic criteria include ocular coloboma, choanal atresia/stenosis, characteristic ear abnormalities, and cranial nerve abnormalities. CHARGE syndrome is caused by a mutation in the gene CHD7 located on chromosome 8. Patients with CHARGE syndrome require multiple anesthetics for surgical and otorhinolaryngology procedures. This study describes the postoperative anesthetic related airway events (i.e. re-intubations for apneas and desaturations, airway obstruction due to excessive secretions) of nine individuals with CHARGE syndrome. METHODS: Detailed chart audits were performed on nine patients diagnosed clinically with CHARGE syndrome who had undergone surgery at a single tertiary health centre. The CHARGE characteristics present in each individual, the number and types of surgeries and anesthetics, and the related postoperative airway events were determined. RESULTS: The mean+/-age of the population at chart review was 11.8 years (+/-8.0). The total number of anesthetics was 147, with a mean of 16.2(+/-8.4). Of the 215 surgical procedures (mean 21.9, +/-12.2), 30% were otorhinolaryngological. Postoperative airway events occurred after 35% of anesthetics. Surgeries resulting in the most airway events involved the heart (65%), the gastrointestinal tract (39%), and airway diagnostic scopes, i.e., bronchoscopy, laryngoscopy, and nasopharyngoscopy (36%). Combining multiple surgical procedures under one anesthetic did not increase the risk of postoperative airway events. As individuals aged, they had fewer surgeries and anesthetics, as well as a lower risk of postoperative airway events. CONCLUSION: Individuals with CHARGE syndrome face a significant risk of postoperative airway events with anesthesia, and this is exacerbated by the high number of surgeries they require. Surgeons and anesthesiologists should be aware of potential for postoperative airway events in individuals with CHARGE syndrome and plan accordingly.