BackgroundEpileptic encephalopathies are a devastating group of neurological conditions in which etiological diagnosis can alter management and clinical outcome. Exome sequencing and gene panel testing can improve diagnostic yield but there is no cost‐effectiveness analysis of their use or consensus on how to best integrate these tests into clinical diagnostic pathways.MethodsWe conducted a retrospective cost‐effectiveness study comparing trio exome sequencing with a standard diagnostic approach, for a well‐phenotyped cohort of 32 patients with epileptic encephalopathy, who remained undiagnosed after “first‐tier” testing. Sensitivity analysis was included with a range of commercial exome and multigene panels.ResultsThe diagnostic yield was higher for the exome sequencing (16/32; 50%) than the standard arm (2/32; 6.2%). The trio exome sequencing pathway was cost‐effective compared to the standard diagnostic pathway with a cost saving of AU$5,236 (95% confidence intervals $2,482; $9,784) per additional diagnosis; the standard pathway cost approximately 10 times more per diagnosis. Sensitivity analysis demonstrated that the majority of commercial exome sequencing and multigene panels studied were also cost‐effective. The clinical utility of all diagnoses was reported.ConclusionOur study supports the integration of exome sequencing and gene panel testing into the diagnostic pathway for epileptic encephalopathy, both in terms of cost effectiveness and clinical utility. We propose a diagnostic pathway that integrates initial rapid screening for treatable causes and comprehensive genomic screening. This study has important implications for health policy and public funding for epileptic encephalopathy and other neurological conditions.
The SAMHSA consensus statement appeared to contain valid concepts for Chinese subjects. It presented new challenges for psychiatric rehabilitation and reminded the policy makers that there is much more psychiatric rehabilitation can achieve beyond symptom control and patient management. It also demonstrated that resolve and the commitment of resources to combat stigma, develop resilience, and foster patient empowerment were very much needed in Hong Kong and perhaps in Asia and elsewhere.
These findings support the clinical utility of a massively parallel sequencing panel for craniosynostosis. TCF12 and EFNB1 should be included in genetic testing for nonsyndromic coronal craniosynostosis or clinically suspected Saethre-Chotzen syndrome.
Metacognitive training (MCT) was developed to promote awareness of reasoning biases among patients with schizophrenia. While MCT has been translated into 31 languages, most MCT studies were conducted in Europe, including newer evidence recommending an individualized approach of delivery. As reasoning biases covered in MCT are separable processes and are associated with different symptoms, testing the effect of selected MCT modules would help to develop a targeted and cost-effective intervention for specific symptoms and associated mechanisms. This study tested the efficacy of a four-session metacognitive training for delusions, MCTd (in Traditional Chinese with cultural adaptations, provided individually), as an adjunct to antipsychotics in reducing severity and conviction of delusions, jumping to conclusions (JTC) bias and belief inflexibility. Forty-four patients with delusions were randomized into the MCTd or the wait-list control condition. Patients on wait-list received the same MCTd after 4 weeks of treatment as usual (TAU). Assessment interviews took place before and after the treatment, and at 4-week follow-up. There was an additional baseline assessment for the controls. JTC and belief flexibility were measured by the beads tasks and the Maudsley Assessment of Delusions Scale. Attendance rate of the MCTd was satisfactory (84.5%). Compared to TAU, there was a greater reduction in psychotic symptoms, delusional severity and conviction following MCTd. There was a large treatment effect size in improvement in belief flexibility. Improvement in reaction to hypothetical contradiction predicted treatment effect in positive symptoms and delusions. JTC bias was reduced following MCTd, although the treatment effect was not significantly larger than TAU. Our results support the use of process-based interventions that target psychological mechanisms underlying specific psychotic symptoms as adjuncts to more conventional approaches.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.