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1.
Pediatr Neurol ; 138: 71-80, 2023 01.
Article in English | MEDLINE | ID: mdl-36403551

ABSTRACT

BACKGROUND: Evidence of the impact of genetic diagnosis on medical management in individuals with previously unexplained epilepsy is lacking in the literature. Our goal was to determine the impact of genetic diagnosis on medical management in a cohort of individuals with early-onset epilepsy. METHODS: We performed detailed phenotyping of individuals with epilepsy who underwent clinical genetic testing with an epilepsy panel and/or exome sequencing at Boston Children's Hospital between 2012 and 2019. We assessed the impact of genetic diagnosis on medical management. RESULTS: We identified a genetic etiology in 152 of 602 (25%) individuals with infantile- or childhood-onset epilepsy who underwent next-generation sequencing. Diagnosis impacted medical management in at least one category for 72% of patients (110 of 152) and in more than one category in 34%. Treatment was impacted in 45% of individuals, including 36% with impact on antiseizure medication choice, 7% on use of disease-specific vitamin or metabolic treatments, 3% on pathway-driven off-label use of medications, and 10% on discussion of gene-specific clinical trials. Care coordination was impacted in 48% of individuals. Counseling on a change in prognosis was reported in 28% of individuals, and 1% of individuals had a correction of diagnosis. Impact was documented in 13 of 13 individuals with neurotypical development and in 55% of those with epilepsy onset after age two years. CONCLUSION: We demonstrated meaningful impact of genetic diagnosis on medical care and prognosis in over 70% of individuals, including those with neurotypical development and age of epilepsy onset after age two years.


Subject(s)
Epilepsy , Child , Humans , Child, Preschool , Epilepsy/diagnosis , Epilepsy/drug therapy , Epilepsy/genetics , Genetic Testing , Prognosis , Exome Sequencing , High-Throughput Nucleotide Sequencing
2.
Front Psychol ; 11: 2078, 2020.
Article in English | MEDLINE | ID: mdl-33013529

ABSTRACT

First responders face multiple stressors on a daily basis. They have experienced higher rates of anxiety disorders, depression, burnout, post-traumatic stress disorder (PTSD), suicide (Asmundson and Stapleton, 2008), alcohol and substance abuse (Ballenger et al., 2010), and deficient sleep hygiene (Pearsall, 2012) compared to the general population. Existing resilience research can be utilized and adapted to help first responders cope in a positive manner as a form of prevention and also as part of their recovery. New resiliency programs continue to emerge and this paper details one - warr;or21. The warr;or21 program is explained and based on an evaluation of the program's preliminary data, the results are promising with how the program can assist first responders (and the general public) increase their resiliency and mental health.

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