The current study aimed to examine attitudes of sexuality of individuals with CHARGE syndrome by exploring potential barriers that may exist due to differences in the attitudes towards sexuality in parents of individuals with CHARGE syndrome and those attitudes of adults with CHARGE syndrome. Participants included 24 adults with CHARGE syndrome and 31 parents of individuals with CHARGE syndrome. The Attitudes of Sexuality-Individuals with Intellectual Disabilities (ASQ-ID) was completed by all participants and was adapted to address this specific population for the current study. Using a multivariate analysis of variance (MANOVA), four themes of sexuality from the ASQ-ID (i.e., sexual rights, parenting, non-reproductive sexual behavior, and self-control) were examined by comparing differences of mean scores across parents of individuals with CHARGE syndrome and adults with CHARGE syndrome. Further, standard linear regressions were used to determine if age was a predictor of attitudes of sexuality within this population. Results indicated that while there was not a statistically significant difference between parents’ overall scores and adults with CHARGE syndrome’s overall score, statistically significant differences were found in two of the subscales. Specifically, adults with CHARGE syndrome were found to have more positive views in the area of parenting, as compared to parents of individuals with CHARGE syndrome. Likewise, parents of individuals with CHARGE syndrome were found to have more positive views in the area of self-control, opposed to adults with CHARGE syndrome. Further, age was not found to be a predictor of attitudes of sexuality within this population. The results and implications of the findings are discussed, as well as limitations and future directions.

Die vorliegende Dissertation beschäftigt sich umfassend mit dem Krankheitsbild der Choanalatresie/-stenose und begleitend auftretenden Fehlbildungen. Schwerpunkt ist das CHARGE-Syndrom als häufig vorkommender Fehlbildungskomplex. 25 Patienten wurden mit der Diagnose Choanalatresie/-stenose am Kinderzentrum des Universitätsklinikums Leipzig AöR von 1997 bis 2007 behandelt. In sechs Fällen trat ein CHARGE-Syndrom auf. Zur retrospektiven Auswertung kamen allgemeine Patienteninformationen, Daten zu Schwangerschaft, Geburt und postnataler Anpassung sowie Therapiemaßnahmen, genetische Untersuchungen und der kindliche Wachstumsverlauf. In 16 Fällen konnten prospektive Angaben ermittelt werden. Es erfolgte eine klinische Untersuchung sowie die Durchführung von Entwicklungstests. Dabei wurden je nach Alter des Kindes die Denver Entwicklungsskalen bzw. der Five to Fifteen-Fragebogen eingesetzt. Ein Elternfragebogen diente der Erfassung soziodemographischer Daten, Informationen bezüglich der kindlichen Entwicklung, auftretender Erkrankungen und Inanspruchnahme ambulanter therapeutischer Maßnahmen sowie der Beurteilung der kindlichen Nasenatmung. Besonderes Interesse galt der Einschätzung der Lebensqualität betroffener Eltern. Zum Einsatz kam das Ulmer Lebensqualitäts-Inventar für Eltern chronisch kranker Kinder. Auf die große Bedeutung der kindlichen Frühförderung und die intensive Unterstützung dieser Familien wird hingewiesen.

A critical step in addressing problem behavior is identifying the function of problem behavior, or reason for engaging in the problem behavior, using functional analysis (FA). Individuals with CHARGE Syndrome engage in problem behaviors that vary across topographies and etiology (e.g., pain, anxiety, sensory concerns; Hartshorne et al., 2017). The literature has illustrated time and time again the effectiveness of these procedures across populations, settings, age groups, and topographies of behavior; however, no studies have been documented exploring the utility of FA procedures with individuals with CHARGE Syndrome. The current study completed brief functional analyses (Northup et al., 1991) with individuals diagnosed with CHARGE Syndrome who presented with problem behavior. Participants included individuals between the ages of 8 to 22 years old diagnosed with CHARGE Syndrome and presenting with problem behaviors. Results indicated that BFA procedures were successful in identifying the function of problem behavior with 4 out of 5 participants.

The current study aimed to focus on Post-Traumatic Stress Disorder (PTSD) symptoms in parents who have a child diagnosed with a rare genetic syndrome called CHARGE Syndrome. While previous studies have investigated related factors to parental PTSD (Reda & Hartshorne, 2008; Wulffaert et al., 2009), this study was one of the first to focus on parental PTSD symptomology and possible traumatic experiences related to CHARGE (e.g., medical complications). Specific concerns related to PTSD addressed in the current study included trauma histories, the number of surgeries a child underwent, and parent stress levels. One hundred and ninety-seven parents completed surveys that met inclusion criteria for the study. Findings indicated that 48% of parents showed signs of PTSD based on reported symptomology. Additionally, higher parent stress levels were found to be contributed to greater symptomology presentation. Overall outcomes of the study demonstrate that PTSD and parent stress levels may affect parents' abilities to adequately provide the needed emotional support and care for their children with CHARGE Syndrome without support. This study paves the way for additional research in this area to focus on the screening and development of treatment resources for parents of children with CHARGE Syndrome. Future directions and limitations were discussed in detail.

Literature assessing behavior among individuals with disabilities largely focuses on individuals with high incidence disabilities leaving a gap for those with rare, or low incidence, genetic syndromes. Specifically, individuals with CHARGE syndrome who exhibit a unique behavioral phenotype, as a result of numerous medical complexities, are absent in literature functionally assessing behavior. Because of this unique behavioral phenotype, caregivers of individuals with CHARGE Syndrome are likely to be most familiar and knowledgeable about their child’s behavior and should therefore be trained to be included in the functional assessment of behavior. Because CHARGE Syndrome is rare, families may have limited access to resources to adequately assess their child’s problem behavior, as well due to medical complexities, individuals with CHARGE may not be able to attend in-person assessment and ultimately treatment as a result of potential exposure to the novel COVID-19 virus. As a result, virtual training methods will allow more families to learn how to identify the cause of their child’s behavior and how to be involved in virtual behavioral assessments. This study evaluates virtual training methods focusing on training caregivers of individuals with CHARGE Syndrome to conduct brief functional analysis conditions.

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Le syndrome CHARGE est une association malformative rare due à une mutation du gène CHD7 dans 60 à 90% des cas. L'objectif de ce travail était d'en décrire les éléments cliniques et moléculaires afin d'optimiser la prise en charge de patients atteints d'un handicap multisensoriel lourd.Le diagnostic anténatal en est difficile et l'étude de 40 fœtus a permis d'affiner la description du phénotype, de décrire de nouveaux éléments cliniques et finalement de proposer un ajustement des critères diagnostiques chez le fœtus.L'étude endocrinienne de 42 patients confirme la présence d'un hypogonadisme hypogonadotrope dans 97% des cas. Souvent méconnu et non traité il peut avoir des conséquences délétères sur la qualité de vie. Nous proposons qu'il soit reconnu comme critère majeur du syndrome.L'étude clinique d'une cohorte française de 119 patients a montré que la surdité et l'atteinte des canaux semi circulaires sont les éléments les plus fréquents du syndrome (suivis de l'atteinte hypophysaire, de l'arhinencéphalie et des anomalies de l'oreille externe), et les seuls significativement associés à la présence d'une mutation dans CHD7. Une étude approfondie des données issues de cette étude est en cours.Sur le plan moléculaire, alors que la plupart des mutations identifiées sont des mutations tronquantes privées apparues de novo, nous avons identifié 4 variants au niveau de l'intron 25, récurrents pour certains, dont l'interprétation était délicate. Leur étude in silico puis par une technique de minigène a permis de mettre en évidence une configuration particulière des séquences impliquées dans l'épissage de l'exon 26 (point de branchement distant) et de démontrer leur pathogénicité. / CHARGE syndrome is a rare disorder of multiple congenital anomalies ascribed to a CHD7 gene mutation in 60% to 90% of cases. The aim of this study was to improve the knowledge regarding molecular and clinical aspects of the syndrome in order to optimize the management of these patients with severe disability. Antenatal diagnosis remains challenging in many instances and a detailed clinicopathological survey in a series of 40 fetuses allowed us to refine the clinical description of CHARGE syndrome in fetuses, describe some novel features and set up diagnostic criteria. An endocrinologic study of 42 patients showed a hypogonadotrophic hypogonadism in 97% of cases. For this reason, it should be considered as a major symptom of the syndrome. An early screening should lead to a hormonal replacement therapy which dramatically impacts the condition.A study of a French cohort of 119 patients found that deafness and semi-circular canals hypoplasia were the most frequent symptoms (followed by hypogonadotrophic hypogonadism, arhinencephaly and external ears anomalies) and the only features statistically associated with a mutation in the CHD7 gene. A detailed study of the data is still going on.The syndrome is mainly due to de novo and private truncating mutations of the CHD7 gene but we report an intriguing hot spot of intronic mutations located in IVS25. Combining computational in silico analysis and ex vivo minigene assays, we explained this mutation hot spot by a particular genomic context, including a distant branch point, and confirmed the pathogenicity of these mutations.

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