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Background: Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. However, instruments applied to quantify disease burden have not adequately captured the impact of these impairments on affected individuals and their families. Consequently, an international collaboration of stakeholders aimed at evaluating Burden of Illness (BOI) in RTT was organized., Methods: Based on literature reviews and qualitative interviews with parents of children and adults with RTT, a caregiver questionnaire was constructed to evaluate 22 problems (inclusive of core characteristics, functional impairments, and comorbidities) often experienced with RTT, rated mainly with a 5-level Likert scale. The questionnaire was administered anonymously online to an international sample of 756 caregivers (predominantly parents) of girls and women with RTT. Descriptive statistics were used to identify problems of high frequency and impact on affected individuals and caregivers. Chi-square tests characterized the relationship between problem severity and impact responses, while nonparametric ANOVAs of raw and z-score adjusted scores identified agreement between severity and impact on individual and caregiver. Secondary inferential tests were used to determine the roles of age, clinical type, and country of residence on BOI in RTT., Results: There was variability in reported frequency of problems, with the most prevalent, severe and impactful being those related to the core features of RTT (i.e., communication and fine and gross motor impairments). Chi-square analyses demonstrated interdependence between severity and impact responses, while ANOVAs showed that many problems had disproportionately greater impact than severity, either on affected individuals (e.g., hand stereotypies) or their caregivers (e.g., sleep difficulties, seizures, pain, and behavioral abnormalities). With certain exceptions (e.g., breath-holding, seizures), age, clinical type, or country of residence did not influence these BOI profiles., Conclusions: Our data demonstrate that core features and related impairments are particularly impactful in RTT. However, problems with mild severity can also have disproportionate impact on affected individuals and, particularly, on their caregivers. Future analyses will examine the role of factors such as treatment outcomes, healthcare services, and healthcare provider's perspectives, in these BOI profiles., (© 2024. The Author(s).)

Objective: Hydrocephalus is inherently unpredictable. Most parents whose child is diagnosed with hydrocephalus do not anticipate the diagnosis, nor can anyone predict if or when a child's shunt will fail and require emergency surgery. Previous research has shown that children with hydrocephalus and their caregivers experience significant posttraumatic stress symptoms secondary to the diagnosis. This study aims to understand caregiver experiences and needs, identify gaps in resources/support, and determine opportunities to improve care., Methods: Semistructured interviews were conducted with parent caregivers of children with hydrocephalus to learn about their experiences with the hydrocephalus diagnosis, hospitalizations, surgeries, coping and support, challenges of caring for a child with hydrocephalus, and logistics for a proposed support program. De-identified interviews were audio-recorded, transcribed, and analyzed for themes., Results: Thematic saturation was reached after 17 interviews. Five major themes emerged: 1) coping with the diagnosis, 2) received support, 3) hydrocephalus management, 4) implications for intervention, and 5) psychosocial stressors for caregivers. A top priority was balanced, trustworthy information delivered with compassion and updated throughout the child's life. Caregivers described a variety of coping strategies, but a majority reported a need for support in processing complex emotions and dealing with the uncertainty of their child's hydrocephalus. Most agreed that having a caregiver support network, medical professionals available for referrals and questions, and referrals to support services and therapies would facilitate feeling supported and providing the best care for their children., Conclusions: Parent caregivers are critical to the health and well-being of children with hydrocephalus, and it is essential to understand their experiences to improve care. Providing well-defined information, psychosocial support, and resources will help to equip parent caregivers to be advocates for their children and to improve both the caregiver and the child's quality of life.

Objective: Hydrocephalus is a disorder of cerebrospinal fluid dynamics, traditionally treated by placement of a ventricular shunt. Shunts are effective but imperfect as they fail in an unpredictable pattern, and the patient's well-being is dependent on adequate shunt function. The omnipresent threat of shunt failure along with the potential need for invasive investigations can be stressful for patients and caregivers. Our objective was to measure post-traumatic stress symptoms (PTSS) in children with hydrocephalus and their caregivers., Methods: A cross-sectional analysis of children with hydrocephalus and their caregivers was conducted. Caregivers completed a measure of their own PTSS (the Post-Traumatic Stress Disorders Checklist for the Diagnostic and Statistical Manual of Mental Disorders-V) and resilience (the Connor Davidson Resilience Scale). Pediatric patients rated their own PTSS and resilience using the Acute Stress Checklist for Kids and Connor Davidson Resilience Scale., Results: Ninety-one caregivers completed the Post-Traumatic Stress Disorders Checklist for the Diagnostic and Statistical Manual of Mental Disorders-V. Mean score was 17.0 (standard deviation 15.7; median 13.0). Fourteen percent scored above 33, the threshold suggestive of a preliminary diagnosis of post-traumatic stress disorder. There was a statistically significant association between caregiver post-traumatic stress and marital status, child's race, and caregiver education. More than half (52%) of caregivers reported their child's hydrocephalus as the most significant source of their PTSS. Children did not have markedly elevated levels of PTSS. Forty-one percent of caregivers and 60% of children scored in the lowest resilience quartile compared with the general population., Conclusions: Results from this study suggest that post-traumatic stress affects caregivers with hydrocephalus, yet levels of resilience for caregivers and pediatric patients are low., (Copyright © 2020 Elsevier Inc. All rights reserved.)