17 research outputs found

    Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice

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    Objective FOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous FOXG1 variants or chromosomal microaberrations in 14q12. The study aimed at assessing the scope of structural cerebral anomalies revealed by neuroimaging to delineate the genotype and neuroimaging phenotype associations. Methods We compiled 34 patients with a heterozygous (likely) pathogenic FOXG1 variant. Qualitative assessment of cerebral anomalies was performed by standardized re-analysis of all 34 MRI data sets. Statistical analysis of genetic, clinical and neuroimaging data were performed. We quantified clinical and neuroimaging phenotypes using severity scores. Telencephalic phenotypes of adult Foxg1+/- mice were examined using immunohistological stainings followed by quantitative evaluation of structural anomalies. Results Characteristic neuroimaging features included corpus callosum anomalies (82%), thickening of the fornix (74%), simplified gyral pattern (56%), enlargement of inner CSF spaces (44%), hypoplasia of basal ganglia (38%), and hypoplasia of frontal lobes (29%). We observed a marked, filiform thinning of the rostrum as recurrent highly typical pattern of corpus callosum anomaly in combination with distinct thickening of the fornix as a characteristic feature. Thickening of the fornices was not reported previously in FOXG1 syndrome. Simplified gyral pattern occurred significantly more frequently in patients with early truncating variants. Higher clinical severity scores were significantly associated with higher neuroimaging severity scores. Modeling of Foxg1 heterozygosity in mouse brain recapitulated the associated abnormal cerebral morphology phenotypes, including the striking enlargement of the fornix. Interpretation Combination of specific corpus callosum anomalies with simplified gyral pattern and hyperplasia of the fornices is highly characteristic for FOXG1 syndrome.Peer reviewe

    Directions for Effectiveness Research to Improve Health Services for Late-Life Depression in the United States.

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    Considerable progress has been made in the treatment of late-life depression over the past 20 years, yet considerable gaps in care remain. Gaps in care are particularly pronounced for older men, certain racial and ethnic minority groups, and those with comorbid medical or mental disorders. We reviewed the peer-reviewed literature and conducted interviews with experts in late-life depression to identify promising directions for effectiveness research to address these gaps in care. We searched the PubMed, PsychInfo, and CINHAL databases between January 1, 1998, through August 31, 2013, using terms related to late-life depression and any of the following: epidemiology, services organization, economics of care, underserved groups including health disparities, impact on caregivers, and interventions. The results of this selective review supplemented by more current recommendations from national experts highlight three priority research areas to improve health services for late-life depression: focusing on the unique needs of the patient through patient-centered care and culturally sensitive care, involving caregivers outside the traditional clinical care team, and involving alternate settings of care. We build on these results to offer five recommendations for future effectiveness research that hold considerable potential to advance intervention and health services development for late-life depression

    Costs of implementing and sustaining enhanced collaborative care programs involving community partners

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    Abstract Background Collaborative care is an evidence-based program for treating depression in primary care. We sought to expand this model by recruiting clinics interested in incorporating community partners (i.e., community-based organizations (CBO) and/or family members) in the care team. Seven sites implemented evidence-based collaborative care programs with community partners while collecting information on costs of implementing and sustaining programs. Methods Sites retrospectively collected data on planning and implementation costs with technical assistance from study researchers. Sites also prospectively collected cost of care activities over a 1-month period once the program was implemented to determine resources needed to sustain programs. Personnel salary costs were adjusted, adding 30% for benefits and 30% for administrative overhead. Results The programs implemented varied considerably in staffing, involvement of care partners, and allocation of costs. Total planning and implementation costs varied from 39,280to39,280 to 60,575. The largest implementation cost category involved workflow development and ranged from 16,325to16,325 to 31,375 with the highest costs in this category attributed to the most successful implementation among clinic-CBO programs. Following implementation, cost per patient over the 1-month period ranged from 154to154 to 544. Ongoing strategic decision-making and administrative costs, which were included in cost of care, ranged from 284to284 to 2328 for the month. Conclusions Sites implemented collaborative care through differing partnerships, staffing, and related costs. Costs to implement and sustain programs developed in partnership are often not collected but are crucial to understanding financial aspects of developing sustainable partnerships. Assessing such costs is feasible and can inform future partnership efforts

    Parenting and perinatal depression: meeting women’s needs

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    Introduction: Symptoms of depression during pregnancy and the postpartum period can negatively impact parenting. It is important to understand the parenting experiences of women with depression, and what parenting support they need. Methods: This is a mixed methods analysis of data (demographic data, depression outcomes, patient survey results, and transcripts of patient and care manager focus groups) from an open treatment trial of the feasibility of delivering perinatal depression treatment using collaborative care in a rural obstetric setting. Results: Patients who attended focus groups did not differ significantly from those who did not. Qualitative analysis of focus groups revealed the following themes: Maternal mood and parenting difficulties are interrelated; Access to depression treatment is complicated by expectations for the perinatal period and by factors related to parenting; Women want parenting support in the context of treatment for perinatal depression. Conclusion: Women receiving perinatal depression treatment experience unique parenting challenges and desire parenting support. Healthcare providers caring for these women should be mindful of their patients’ parenting needs. Future research should explore ways to integrate parenting interventions with depression treatments. Mother–infant interaction is a key determinant of optimal infant development and integrating parenting support with perinatal depression treatments can have significant public health impact
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