Methodological Proposal of a 2Gen Approach to Treating Trauma for Mothers with Substance-Use and Their Children

Background: Existing literature shows adverse environments are detrimental to a family’s overall health and wellbeing. Estimates from 2016 indicate 18 million children experienced at least one family stressor such as economic hardship, exposure to parental substance use or witnessing domestic violence. Women are three times more likely to pass intergenerational trauma, or trauma passed from caregiver to child. If left untreated, adults and children are at risk for developing Posttraumatic Stress Disorder (PTSD) and rupturing the parent child relationship. Current services typically treat the parent and child individually, despite research showing positive relational and therapeutic effects when they are treated together . Treating parents and children at the same time bolsters attachment which strengthens the relationship between parent and child; however, there is currently no therapeutic framework in which both parents and children have equal importance in therapy . Objective: This study further develops the conceptual framework for a new “2Gen” intervention. Specifically, we specify a research design by which we plan to pilot this intervention. Method: A sample of 12 mothers and children residing in a substance abuse treatment facility will participate in 10 sessions of 2Gen. During simultaneous sessions, mothers will participate in group therapy to address post-traumatic stress (PTS) symptoms and substance use. They will also receive parent training designed to help enhance their parenting efficacy. Children will participate in group therapy in which they receive psychoeducation on trauma and learn coping skills. We plan to measure mother and child PTS symptoms, perceived stress, level of attachment and parental efficacy twice before the start of treatment and then again after treatment. We predict that mothers will report reductions in PTS, perceived stress and enhancements in mood, parenting confidence, and satisfaction in their relationship with their children. We anticipate that children will report decreased symptoms of PTS and perceived stress as well as increased satisfaction in the mother-child relationship and stability in overall mood. Implications: The goal of this study is to increase the trauma-focused treatment options available to both women and children who are struggling with intergenerational trauma due to the mother’s substance-use difficulties. Longer-term outcomes hope increase access to trauma mental health services for underprivileged families and motivate local agencies to adopt 2Gen programs to treat psychological outcomes associated with trauma. Future projects could be created to analyze the specific variables influencing outcomes of the 2Gen approach to treating trauma

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)

In the original author list, Seth Perlman’s degrees were listed as MD, PhD. Dr Perlman’s degree is MD. The original version has been corrected

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Purpose: In this study we investigate the disease etiology in 12 patients with de novo variants in FAR1 all resulting in an amino acid change at position 480 (p.Arg480Cys/His/Leu). Methods: Following next-generation sequencing and clinical phenotyping, functional characterization was performed in patients’ fibroblasts using FAR1 enzyme analysis, FAR1 immunoblotting/immunofluorescence, and lipidomics. Results: All patients had spastic paraparesis and bilateral congenital/juvenile cataracts, in most combined with speech and gross motor developmental delay and truncal hypotonia. FAR1 deficiency caused by biallelic variants results in defective ether lipid synthesis and plasmalogen deficiency. In contrast, patients’ fibroblasts with the de novo FAR1 variants showed elevated plasmalogen levels. Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production. Conclusion: Heterozygous de novo variants affecting the Arg480 residue of FAR1 lead to an autosomal dominant disorder with a different disease mechanism than that of recessive FAR1 deficiency and a diametrically opposed biochemical phenotype. Our findings show that for patients with spastic paraparesis and bilateral cataracts, FAR1 should be considered as a candidate gene and added to gene panels for hereditary spastic paraplegia, cerebral palsy, and juvenile cataracts