Timothy S. Hartshorne

Autistic-like behavior in CHARGE syndrome

Children with CHARGE syndrome frequently exhibit moderate to severe behavior difficulties, and are often diagnosed with obsessive‐compulsive disorder, attention deficit disorder, Tourette syndrome, and autism. Hartshorne and Cypher ( 2004 ) surveyed parents of 100 children with CHARGE worldwide and confirmed the prevalence of behaviors that are associated with these disorders. They also found behaviors that could be described as typical of persons who are deafblind. The present study examined whether the autistic‐like behaviors of children with CHARGE are more similar to those of children who are deafblind, to those of children who are autistic or are unique to CHARGE. Surveys including the Autism Behavior Checklist (ABC) were mailed to families of 204 children with CHARGE, and 160 usable surveys were returned (78%). Total scores on the ABC for children with CHARGE were significantly different from the norms for those with autism, and those who were deafblind. However, the variance for CHARGE was larger than for the normative groups, and 27.5% of those with CHARGE could be classified as autistic. The pattern of subscale scores for those with CHARGE differed from the other normative groups.

Childhood sexual abuse and adult loneliness and network orientation

Women who are sexually abused may be at greater risk for loneliness and less likely to utilize their social support system. Data regarding a history of sexual abuse, and network orientation were gathered from 231 female university students, 24 of whom indicated a history of abuse, and from 26 female clients at two treatment centers. Victims of sexual abuse were found to be more lonely and less likely to utilize their social support system than the controls. Contrary to expectations, those who were in treatment were more lonely and less likely to use social support than those not in treatment. Those in treatment were also victims for a longer period of time involving more incidents than those not in treatment. One-way ANOVAs found the treatment group more lonely than the nontreatment and control groups who did not differ from each other; however, on network orientation all groups differed from each other in the expected direction. These findings support reports that victims of sexual abuse tend to isolate themselves from others.

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.

Behavior in CHARGE syndrome: Introduction to the special topic

Challenging behavior in children with CHARGE syndrome has been increasingly a concern of parents, educators, and health professionals. This article introduces the special topic in the American Journal of Medical Genetics on behavior in individuals with CHARGE syndrome. It provides background on CHARGE syndrome, diagnostic criteria, and the relationship of sensory and other physical deficits with both development and behavior. Four themes related to our developing understanding of behavior in CHARGE are described: children with CHARGE have behaviors different from those seen in other syndromes with or without deafblindness. The behavior they display is often very adaptive to their environment and to their own disabilities. These behaviors may be partially related to problems with arousal and self‐regulation. And, finally, all papers point to behavior as communication, especially within relationships, where it is essential for maximizing intellectual and social outcomes.

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.

Sleep disturbances in CHARGE syndrome: types and relationships with behavior and caregiver well-being

Children with CHARGE syndrome frequently develop moderate to severe behavior difficulties and are often diagnosed with obsessive–compulsive disorder, attention deficit disorder, Tourette syndrome, and autism. Anecdotal reports have indicated that sleep is also affected. However, the prevalence and types of sleep disturbance have not been identified. This study investigated sleep disturbances in 87 children with CHARGE syndrome, aged 6 to 18 years (mean 11y, SD 3y 8mo). There were 52 males and 35 females represented. Instruments included measures of sleep (Sleep Disturbances Scale for Children [SDSC]), behavior (Developmental Behaviour Checklist [DBC]), and carer well‐being (Malaise Inventory). On the SDSC, 57.5% received scores considered significant for sleep disturbances, with disorders of initiating and maintaining sleep, sleep breathing, and sleep–wake transition being the most common. The SDSC was significantly correlated with the DBC (p=0.010) and the Malaise Inventory (p=0.003). Regression analysis found that both problem behavior and sleep disturbances contributed to the prediction of scores on the Malaise Inventory. Being both deaf and blind (p=0.001), experiencing frequent middle‐ear infections (p=0.015), and starting to walk at an older age (p=0.007) were associated with more sleep disturbance. Craniofacial anomalies were not. The study highlights the importance of addressing the sleep difficulties associated with CHARGE syndrome relating both to airway management and to disorders of initiating sleep.

Executive Function in Charge Syndrome

This study addressed the presence of executive dysfunction in children with CHARGE syndrome, a genetic disorder with multiple physical anomalies and severe challenging behaviors. Ninety-eight children were included in the study. More than half received clinically significant scores on the Behavior Rating Inventory of Executive Function (BRIEF; Gioia et al., 2000) scales of Shift, Monitor, and the Behavioral Regulation Index, with additional high scores on Inhibit and the Global Executive Composite. Associations were found with the age the child first walked, scores on the Autism Behavior Checklist (ABC; Krug et al., 1993), and being classified as deafblind. Difficulties with making transitions and flexible problem solving, monitoring their work and their effect on others, and acting on impulse, may be related to the behavioral difficulties exhibited by children with CHARGE. Interventions targeting improved self-regulation may help to manage this challenging behavior.

Section 504 and School Psychology.

Court cases, Office of Civil Rights enforcement activities, and Department of Education policy statements have signaled new interpretations of Section 504 of the Rehabilitation Act of 1973. A summary of those portions of Section 504 most pertinent to school psychological practice is provided. Special attention is given to the similarities and differences between 504 and the Individuals with Disabilities Education Act regarding school responsibilities to students with special needs. Implications of 504 for school psychological practice are discussed.

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 individuals 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.

Family Resilience Relative to Children with Severe Disabilities

All births change the dynamics of a family, sometimes in ways the parents never anticipated. The web of relationships multiplies in complex patterns of interaction. Roles of family members often shift with the addition of new needs, demands, and expectations. Parenting can be exciting and meaningful, but it is also hard work. Most parents endure the hard work because of the hopes and joys of watching their children grow and change and develop into people who in their turn will make their way in the world. Of course, it does not always turn out the way parents anticipated. Children do not always fulfill their parents’ expectations. But the hope can linger because it should be possible.