Quality of life in adolescents and adults with CHARGE syndrome

Abstract

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.

Behavior in CHARGE syndrome

“…Compulsive Disorder (OCD) (Blake, Salem-Hartshorne, Daoud, & Gradstein, 2005;Hartshorne, 2011;Hartshorne et al, 2016). These behaviors include repetitive behaviors, sorting objects, linking up objects, checking, and an all-consuming focus on one idea, activity, or item (Wachtel, 2011).…”

Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head‐to‐toe

“…This can lead to problems with sleep apnea and feeding . Ear-nose-throat (ENT) surgeons have been reported to be the number one specialty that follows individuals with CHARGE syndrome throughout their life, due to the high prevalence of head and neck dysfunction Hartshorne et al, 2016). A recent case report described the success of an implanted hypoglossal nerve stimulator to treat refractory severe obstructive sleep apnea in an adolescent with Down syndrome (Diercks et al, 2016).…”

“…Individuals often experience abdominal gurgling and decreased abdominal muscle tone. Pain can be very difficult to assess in individuals with CHARGE syndrome as communication is often supported with multiple non-vocal methods, including sign language, gestures, or picture exchange (Dammeyer, 2012;Hartshorne et al, 2016;Salem-Hartshorne & Jacob, 2005). The CHARGE Non-Vocal Pain Assessment scale can be completed by parents when they think their child is in pain, to help them objectively quantify and compare pain that they think their child is experiencing (Stratton & Hartshorne, 2016).…”

“…Behaviors may be self-stimulatory and selfregulatory, due to the significant sensory impairments from cranial nerve dysfunction, maladaptive behaviors, tics, or obsessive-compulsive-like behaviors. Adolescents and adults with CHARGE syndrome receive mental health diagnoses of obsessive-compulsive disorder, anxiety disorder, tics/ tourette syndrome, and ADHD Hartshorne et al, 2016).…”

“…One study that examined the healthcare needs of individuals with CHARGE syndrome in the UK found that in just the first year of life, GI symptoms contributed to extended hospitalizations (26-230 days), 10-34 diagnostic procedures, and a trial of 10-28 prescribed medications (Anderzén-Carlsson, 2015). Although previously thought to be most highly prevalent in infancy and childhood, we have continued to learn more about the impact of existing and the development of new feeding and GI issues well into adolescence and adulthood (Bergman et al, 2010;Blake, Salem-Hartshorne, Daoud, & Gradstein, 2005;Dobbelsteyn, Marche, Blake, & Rashid, 2005;Dobbelsteyn et al, 2008;Hartshorne et al, 2016).…”