Survey On Disclosing Information To Children With Genetic Conditions And Their Siblings In Japan

Many parents face the dilemma of when, how, and what to disclose to their children regarding their genetic conditions. The purpose of this study was to learn about the experiences of parents regarding disclosing information to their children with genetic conditions.Methods: A questionnaire was sent to 378 parents of children and adolescents with the following genetic conditions: 22q11.2 deletion syndrome, Beckwith-Wiedemann syndrome, Noonan syndrome, Russell-Silver syndrome, Kabuki syndrome, Williams syndrome, Prader-Willi syndrome, and Sotos syndrome. Findings were analyzed using descriptive statistics for multiple-choice questions and thematic analysis for open-ended questions.Results: Of the parents surveyed, 158 (41.8 %) responded to the questionnaires. The average age of children with genetic conditions was 12 years. Sixty-seven parents had disclosed relevant information to their children, whereas 91 had not. Sixty-eight out of 91 respondents were planning to disclose information in the future. Many respondents who had disclosed information did not regret this. They felt good talking about genetic conditions, and had talked about genetic conditions with the affected children following disclosure.Conclusion: This study contributed to our understanding of the attitudes of parents towards disclosing information to children with genetic conditions.

SARS-CoV-2 and Pre-Tamponade Pericardial Effusion. Could Sotos Syndrome Be a Major Risk Factor?

Pericarditis with pericardial effusion in SARS CoV-2 infection is a well-known entity in adults. In children and adolescents, only a few cases have been reported. Here, we present here a case of a 15-year-old girl affected by Sotos syndrome with pre-tamponed pericardial effusion occurred during SARS-CoV-2 infection. A possible relation between SARS-CoV-2 pericarditis and genetic syndromes, as a major risk factor for the development of severe inflammation, has been speculated. We emphasize the importance of active surveillance by echocardiograms when SARS-CoV-2 infection occurs in combination with a genetic condition.

Parental Stress and Disability in Offspring: A Snapshot during the COVID-19 Pandemic

Parenting a child with a disability, such as neurodevelopmental disorders and genetic syndromes, implies a high level of stress. During the COVID-19 outbreak—as a period implying additional challenges—few studies have specifically investigated caregivers’ distress among neurodevelopmental disabilities. The objective of the study is to investigate whether during the COVID-19 pandemic, the level of parental stress differs between four disability groups including neurodevelopmental disorders (autism spectrum disorder (ASD), attention deficit and hyperactivity disorder (ADHD)) and genetic syndromes (Rett syndrome (RTT), Sotos syndrome (SS)) in comparison to families with typical development offspring (TD). In total, 220 Italian parents of children affected by neurodevelopmental disabilities (74 ASD, 51 ADHD, 34 SS, 21 RTT, 40 TD; age M 9.4 ± SD 4.2) underwent a standardized evaluation for stress related to parenting through the self-report questionnaire, Parental Stress Index-Short Form (PSI-SF). The main findings show greater levels of parental stress—mainly linked to child behavioral characteristics rather than parental sense of competence—in parents of children affected by a disability in comparison to children with typical development. This study highlights the need to support not only individuals with special needs but also their own caregivers: core figures in the management and outcome of children disorders.