Adolescent and young adults (AYAs) with chronic illnesses cope with complex issues that require unique psychological support and healthcare services to reduce psychosocial difficulties, improve disease management, and facilitate positive transitions to adult care. Engaging patients and caregivers can help providers understand the specific needs of this population and identify the perceived areas of support. The purpose of this quality improvement initiative is to assess the needs of AYAs with chronic medical conditions at a large government research hospital. Eighty-nine AYA patients (age = 23.5 years; range 13–34) with neurofibromatosis type 1, cancer, primary immunodeficiencies, or sickle cell disease, and a sample of caregivers (n = 37, age = 52 years; range: 41–65), completed an anonymized survey that assessed their preferences for a wide range of informational and service-related needs. The results indicate an overwhelming desire for information about general health and wellbeing and disease-specific medical knowledge. The most endorsed item was the need for more information about an individual’s medical condition (72%), which was a primary concern across disease, racial, and gender groups. Demographic and disease-specific needs were also identified. Thus, providing information to AYA patients and caregivers is a critical and largely unmet component of care, which requires the development and implementation of targeted educational and psychosocial interventions.
Aim
To describe the cognitive development of children with neurofibromatosis type 1 (NF1) and plexiform neurofibromas, and identify predictors of cognitive development.
Method
Participants included 88 children with NF1 and plexiform neurofibromas (50 males, 38 females, aged 6–18y, mean=12y, SD=3y 7mo) on a natural history study at the National Cancer Institute. Neuropsychological assessments (e.g. IQ, academic achievement, attention, and executive functioning) were administered three times over 6 years.
Results
Relative to normative peers, the total sample of children with NF1 and plexiform neurofibromas demonstrated significantly lower scores in most cognitive domains and decreasing z‐scores over time in math, writing, inhibitory control, and working memory. Children who had parents with (vs without) NF1 were more likely to experience decreased z‐scores in performance IQ, reading, writing, attention, and working memory. Higher (vs lower) parental education was related to higher levels of IQ, math, reading, and cognitive flexibility and a slower decrease in math z‐scores. Children’s sex and the number of NF1 disease‐related complications were not related to most cognitive outcomes.
Interpretation
Children with NF1 and plexiform neurofibromas are at high risk for cognitive difficulties and declining z‐scores in various domains of cognitive functioning over time. The findings highlight the need for a better understanding of the within‐group differences in these children and their need for individualized educational plans.
What this paper adds
Math, writing, inhibitory control, and working memory scores decreased over time.
The proportion of children with clinically significant cognitive deficits increased over time.
Parental neurofibromatosis type 1 and low education were related to greater cognitive difficulties in children.
The coronavirus pandemic increased anxiety and stress and prevented access to health care worldwide; it is unclear how COVID‐19 affected adults with a multisystem genetic disorder such as neurofibromatosis (NF). An anonymous online survey was distributed through an international registry and foundations to adults with NF (June–August 2020) to assess the impact of the pandemic on mental health and NF health care. Six hundred and thirteen adults (18–81 years;
M
= 45.7) with NF1 (77.8%), NF2 (14.2%), and schwannomatosis (7.8%) provided complete responses. Respondents rated moderate‐to‐high amounts of worry about the impact of COVID‐19 on their emotional (46.3%) and physical health (46.7%), and 54.8% endorsed moderate‐to‐high pandemic‐related stress. Adults with diagnosed/suspected mental health disorders or moderate‐to‐severe NF symptom impact as well as females endorsed higher COVID‐19 stress (
p
s < 0.01). Less than half who missed a doctor's appointment for their NF care (43.4%) used telehealth. Of these, 33.3% and 46.2% reported that telehealth met their needs to a moderate or high degree, respectively. Results indicated that subgroups of adults with NF experience higher COVID‐19‐related worries and stress and may need additional support. Furthermore, telehealth is under‐utilized and could help NF providers connect with patients, although improved delivery and patient training may facilitate expanded use of these services.
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