Background
The development of advanced genetic technologies has resulted in rapid identification of genetic etiologies of neurodevelopmental disorders (NDDs) and has transformed the classification and diagnosis of various NDDs. However, diagnostic genetics has far outpaced our ability to provide timely medical counseling, guidance, and care for patients with genetically defined NDDs. These patients and their caregivers present with an unmet need for care coordination across multiple domains including medical, developmental, and psychiatric care and for educational resources and guidance from care professionals. After a genetic diagnosis is made, families also face several barriers in access to informed diagnostic evaluations and medical support.
Methods
As part of Care and Research in Neurogenetics (CARING), a multidisciplinary clinical program for children and adults with neurogenetic disorders, we conducted qualitative clinical interviews about the diagnostic journey of families. This included the overall timeline to receiving diagnoses, experiences before and after diagnosis, barriers to care, and resources that helped them to navigate the diagnostic process.
Results
A total of 37 interviews were conducted with parents of children ages 16 months to 33 years. Several key themes were identified: (1) delays between initial caregiver observations and formal developmental or genetic diagnoses; (2) practical barriers to clinical evaluation and care, including long wait times for an appointment, lack of insurance coverage, availability of local evaluations, transportation difficulties, and native language differences; (3) the importance of being part of a patient advocacy group to help navigate the diagnostic journey; and (4) unique challenges faced by adults (18 years or older).
Conclusions
Families of children with complex neurodevelopmental and genetic disabilities face numerous challenges in finding adequate medical care and services for their child. They experience considerable delays in receiving timely diagnoses and face significant barriers that further delay the process of receiving access to services needed for the child’s continued care. The gaps indicated in this study speak to the need for more comprehensive coordination of care for patients with intellectual and developmental disabilities, as well as the development of systematic, disorder-specific resources both for providers and families in order to improve patient outcomes.
Objectives To assess mental health and life conditions in adolescents with autoimmune rheumatic diseases (ARDs) and healthy controls quarantined during COVID-19 pandemic. Method A cross-sectional study included 155 ARD adolescents and 105 healthy controls. Online survey included selfreported strengths and difficulties questionnaire (SDQ), and a semi-structured questionnaire with demographic data, daily home and school routine, physical activities, and COVID-19 information during the pandemic. Results Among patients, 56% had juvenile idiopathic arthritis (JIA), 29% juvenile systemic lupus erythematosus (JSLE), and 15% juvenile dermatomyositis (JDM). No differences were found regarding sex, ethnicity, and current age between ARD patients and controls (p > 0.05). Abnormal emotional SDQ (38% vs. 35%, p = 0.653) were similar in both groups. Logistic regression analyses in ARD patients demonstrated that female (OR = 2.4; 95%CI 1.0-6.0; p = 0.044) was associated with severe emotional SDQ dysfunction, whereas sleep problems were considered as a risk factor for both worse total SDQ (OR = 2.6; 95%CI 1.2-5.5; p = 0.009) and emotional SDQ scores (OR = 4.6; 95%CI 2.2-9.7; p < 0.001). Comparisons between ARD patients with and without current prednisone use showed higher median scores of peer problems in the first group [3 (0-10) vs. 2 (0-7), p = 0.049], whereas similar median and frequencies between JIA, JSLE, and JDM (p > 0.05). Conclusions Approximately one third of JIA, JSLE, and JDM patients presented abnormal total and emotional scores of SDQ during COVID-19 quarantine. Sleep problems were the main factor associated with emotional difficulties in these ARD adolescents. The knowledge of mental health issues rates in adolescents with ARD supports the development of prevention strategies, like sleep hygiene counseling, as well as the references of the affected patients to specialized mental health services, as necessary.
Key Points• One third of ARD patients presented mental health issues during COVID-19 quarantine • Sleep problems were associated with emotional difficulties. • It is necessary to warn pediatric rheumatologists about the importance of sleep hygiene counseling.
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