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Parents of 25 children with CHARGE syndrome, ages 12 to 50 months, completed measures of child attachment, parental bonding, and family stress. Twelve children were classified as securely and 13 as insecurely attached. The time it took to appear attached and parents to feel bonded were related, as were length of time to appear attached and strength of parental bonding. Visual impairment was related to an insecure attachment as well as parenting stress. Twelve parents had scores indicating significant stress. Parenting stress was related to problems with bonding, and having a challenging child was related to insecure attachment. Being able to hold the child and a shorter stay in the hospital after birth were related to more secure attachment. [ABSTRACT FROM AUTHOR]

Little is known, beyond anecdotal reports, concerning the challenging behaviors of some children with CHARGE Syndrome. One hundred respondents from the US (74%) and seven foreign countries, primarily mothers (91%), completed a web-based survey regarding the behaviors of a person with CHARGE (median age of 7). Included was a medical history and a list of 71 behaviors based on the diagnostic categories most frequently reported anecdotally. Findings supported these reports. Behaviors typical of autistic disorder, attention deficit/hyperactivity disorder, obsessive-compulsive disorder, Tourette syndrome, and deaf-blindness were characteristic of these children. Those who were deaf-blind received higher ratings on these challenging behaviors. [ABSTRACT FROM AUTHOR]

Ratings by 23 parents and 21 regular education teachers on the Social Skills Rating Scale (SSRS) for elementary-age students who were blind were compared to ratings for the SSRS sighted norm group. No significant differences were found in the overall ratings of social skills or on the Self-Control or Responsibility subscales, but several important differences were noted on the Assertion and Cooperation subscales. Students who were blind were rated as less academically competent and higher on problem behaviors than the sighted norm group, even though stereotypical behaviors were not assessed by the SSRS. Implications for instruction are discussed. [ABSTRACT FROM AUTHOR]

CHARGE syndrome is a rare genetic disorder which can impact every sensory system and is often associated with significant medical, communicative, developmental, and behavioral difficulties. Due to the rarity and complexity of CHARGE syndrome, educators often lack the expertise required to effectively understand and accommodate the needs of these students. Therefore, an educational checklist (i.e. "Checklist") was developed to provide a comprehensive tool that educators and related professionals can utilize to aid in the education of individuals with CHARGE syndrome. The Checklist was developed through collaboration with an international panel of experts; CHARGE Syndrome Research Lab at Central Michigan University (CMU); and a select group consisting of parents, professionals, and state deafblind project employees. The Checklist outlines major CHARGE characteristics, resulting educational needs, team members, consulting professionals, and suggested methods of accommodation. The Checklist may be utilized to develop and inform services for individuals with CHARGE syndrome in the schools., Competing Interests: The authors declare that they have no conflict of interest., (© 2019 The British Society of Developmental Disabilities.)

Unusual behavior is often associated with genetic syndromes, and may constitute a behavioral phenotype. In contrast to providing a psychiatric diagnosis, a behavioral phenotype describes what is unique to the behavior associated with different syndromes. While behaviors in CHARGE are as complex and variable as other aspects of the syndrome, there are some commonalities that raise the question of common sources for these behaviors. This article addresses how pain, sensory issues, and anxiety may impact the behavior of individuals with CHARGE syndrome, and how the development of self-regulation skills might help to mitigate some of the behaviors., (© 2017 Wiley Periodicals, Inc.)

Social-emotional development is important to personal adjustment and well-being. Little has been written about social-emotional development in children and youth who are deafblind. The authors discuss factors in typical social-emotional development-attachment, empathy, and friendships-and how they may be challenged in children who are deaf-blind. Also reviewed are factors that place children who are deafblind at risk for delays in social-emotional development. Finally, the possible benefits of inclusion to the social-emotional development of children who are deafblind are examined.

Parents of 145 individuals with a clinical diagnosis of CHARGE syndrome, ages 2 to 39 years, indicated in a survey whether their child had been tested for the CHD7 mutation, which is the only gene presently known to be associated with CHARGE. More than two thirds (68%) of the affected individuals had never been gene tested. Of the 46 who had been tested, 74% tested positive for the mutation. Half (50%) of those who underwent testing did so as a part of a conference blood draw by Baylor College of Medicine in 1999. Children who were tested were significantly younger than those who had not been tested. A second group of 43 parents were informally surveyed at a conference in 2009. More than half of their children had been tested, and nearly 70% were positive for the mutation. Reasons given by these parents for testing included confirming the diagnosis and assisting research. Reasons given for not testing included lack of opportunity, no known benefit, and lack of insurance coverage.

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.

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.

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., ((c) 2008 Wiley-Liss, Inc.)

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.

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., (Copyright (c) 2005 Wiley-Liss, Inc.)

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., (Copyright (c) 2005 Wiley-Liss, Inc.)

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 ANOVA's 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.

This study investigated the psychometric properties of the UCLA Loneliness Scale. Test-retest and internal consistency reliability were found to be highly acceptable, and support for the concurrent related validity of the scale was also indicated. Confirmatory factor analysis provided support for the unidimensionality of the scale. Evidence was found that the scale is not multivariate normal and in fact appears to be bimodal. Implications point to the need to reconsider the nature of the loneliness construct and to develop conceptually or theoretically based models for testing.

While studies have considered the importance of the grandparent and grandchild relationship from the perspective of the former, the present study explores the perspective of young adult grandchildren concerning this relationship. Four relationship variables are examined: 1) the amount of contact; b) the assessed adequacy of contact; 3) the importance of the relationship; and 4) the role conception. The results of this study support the position that grandparents remain a significant factor in the lives of young adults.