Parent survey of sleep problems among children with CHARGE syndrome.

Sleep problems are common among children, especially those with developmental disabilities, visual impairments, and behavioral problems. Past research has indicated a particularly high prevalence of clinically-relevant sleep problems for children with CHARGE syndrome, who often possess all three of these qualities. To gather additional information regarding the nature of these sleep problems and how they are most commonly treated amongst parents, an explorative survey was conducted with 30 parents of children with CHARGE syndrome with comorbid sleep problems using the Sleep Disturbance Scale for Children, as well as demographic and sleep questionnaires developed for use in this study. Our findings indicated that problems of sleep initiation and maintenance were most commonly reported, consistent with previous research. Parents most often reported the following factors suspected of contributing to sleep problems: self-regulation difficulties, teeth grinding, hormonal imbalance, problem behaviors, and anxiety. The most commonly administered treatments were reported to be the use of positive bedtime routines, melatonin treatment, the use of a weighted blanket, and prescription medications, respectively. While parents reported overall that they felt all three of these intervention strategies were slightly effective at improving their child's sleep problem, the use of positive bedtime routines and melatonin treatment were perceived as more effective by parents. These results aid professionals in the selection of future research and intervention strategies to recommend for parents of children with CHARGE syndrome.

Behavior in CHARGE syndrome.

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.

Packing and Problematic Feeding Behaviors in CHARGE Syndrome: A Qualitative Analysis.

OBJECTIVE: To understand packing and problematic feeding behaviors during mealtime in individuals with CHARGE syndrome. Packing, or holding food in one's cheeks without swallowing, is an adverse feeding behavior that has been described in children with autism and Down syndrome, and in those transitioning from tube to oral feeding. It has never been described in detail in CHARGE syndrome, a genetic disorder with a high prevalence of feeding difficulties, tube feeding, and otorhinolaryngological issues. METHODS: A mixed methods approach used descriptive and qualitative content analysis of interviews with parents of children, adolescents, and adults with CHARGE syndrome. Individuals had previously or were currently experiencing packing or overstuffing one's mouth with food during eating. RESULTS: Twenty parents completed a phone interview, describing their child/adult's (2-32 years) adverse feeding behaviors. Individuals had a higher proportion of cleft palates (40%) in comparison to the general CHARGE population (15-20%). Parents reported food packing most commonly with bread and pasta (33%), and reported that food was held in cheeks for hours after a meal had ended (35%). Packing was reported to prolong mealtimes for over an hour (30%). Parents were worried about choking during eating (30%). Food packing was also reported in individuals who had never needed G/J tube feeding or feeding therapy, in addition to those who had needed both. CONCLUSION: This study provides an in-depth description of parents' experiences with packing and adverse feeding behaviors in individuals with CHARGE syndrome. These feeding behaviors are an important addition to the knowledge of the highly prevalent feeding difficulties in this genetic disorder. Individualized evaluation of feeding behavior should be a part of the standard otolaryngologic and feeding team practice for these patients.

Psychomotor and cognitive impairments of children with CHARGE syndrome: common and variable features.

OBJECTIVE: We aimed to understand the mechanisms and sources of learning difficulties in children with CHARGE syndrome who attend school and to determine any specific developmental characteristics. METHOD: We analyzed the psychomotor and cognitive functions of eight children from 7 to 13 years old with classical CHARGE syndrome by using the Wechsler Intelligence Scale for Children (WISC), the Neuropsychomotor test (NP-MOT), and several subtests of the Developmental neuropsychological assessment (NEPSY) and Kaufman Assessment Battery for Children (K-ABC) instruments. RESULTS: The IQ range was from 54 to 92. The main weaknesses related to three domains: static and dynamic postural control, visuospatio-constructive abilities, and both sequential processing and selective attention. The main strengths were in holistic perception, semantic competencies, logical reasoning and planning skills, with axial and peripheral hypotonia. The extent of psychomotor and cognitive deficits was not associated with severity of sensorial deficiencies. We discuss the multiple causal mechanisms of psychomotor and cognitive difficulties. CONCLUSION: We found a persistent and homogeneous psychomotor profile and specific cognitive difficulties in 8 children with CHARGE syndrome despite their large range of IQs. Highlighting these specific impairments is important to understand the nature and mechanisms of CHARGE for adapting educational and rehabilitation methods. These problems may be explained by sensory deficits, as well as dysfunction in integrating and/or regulatory regions of the brain.

Development and characteristics of children with Usher syndrome and CHARGE syndrome.

OBJECTIVE: Individuals with Usher syndrome or CHARGE syndrome are faced with a number of difficulties concerning hearing, vision, balance, and language development. The aim of the study is to describe the developmental characteristics of children with Usher syndrome and CHARGE syndrome, respectively. METHOD: Data about the developmental characteristics of 26 children with Usher syndrome and 17 children with CHARGE syndrome was obtained. Associations between deafblindness (dual sensory loss), motor development (age of walking), language abilities, and intellectual outcome of these children were explored for each group independently. RESULTS: Both groups of children face a number of difficulties associated with vision, hearing, language, balance and intellectual outcome. Intellectual disability and/or language delay was found among 42% of the children with Usher syndrome and among 82% of the children with CHARGE syndrome. Intellectual disability was associated with language delay and age of walking for both groups. CONCLUSIONS: Even though Usher and CHARGE are two different genetic syndromes, both groups are challenged with a number of similar developmental delays. Clinicians need to be aware of several developmental issues in order to offer adequate support to children with Usher or CHARGE syndrome.

Autism spectrum disorders and epigenetics.

OBJECTIVE: Current research suggests that the causes of autism spectrum disorders (ASD) are multifactorial and include both genetic and environmental factors. Several lines of evidence suggest that epigenetics also plays an important role in ASD etiology and that it might, in fact, integrate genetic and environmental influences to dysregulate neurodevelopmental processes. The objective of this review is to illustrate how epigenetic modifications that are known to alter gene expression without changing primary DNA sequence may play a role in the etiology of ASD. METHOD: In this review, we summarize current knowledge about epigenetic modifications to genes and genomic regions possibly involved in the etiology of ASD. RESULTS: Several genetic syndromes comorbid with ASD, which include Rett, Fragile X, Prader-Willi, Angelman, and CHARGE (Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness), all demonstrate dysregulation of epigenetic marks or epigenetic mechanisms. We report also on genes or genomic regions exhibiting abnormal epigenetic regulation in association with either syndromic (15q11-13 maternal duplication) or nonsyndromic forms of ASD. Finally, we discuss the state of current knowledge regarding the etiologic role of environmental factors linked to both the development of ASD and epigenetic dysregulation. CONCLUSION: Data reviewed in this article highlight a variety of situations in which epigenetic dysregulation is associated with the development of ASD, thereby supporting a role for epigenetics in the multifactorial etiologies of ASD.