Asynchronous video messaging promotes family involvement and mitigates separation in neonatal care

From BMJ via Jisc Publications RouterVoR closed-deposited 2020-09-16; AM deposited OA 2020-12-01.Objective: To evaluate the parent and staff experience of a secure video messaging service as a component of neonatal care. Design: Multicentre evaluation incorporating quantitative and qualitative items. Setting: Level II and level III UK neonatal units. Population: Families of neonatal inpatients and neonatal staff. Intervention: Use of a secure, cloud-based asynchronous video messaging service to send short messages from neonatal staff to families. Evaluation undertaken July–November 2019. Main outcome measures: Parental experience, including anxiety, involvement in care, relationships between parents and staff, and breastmilk expression. Results: In pre-implementation surveys (n=41), families reported high levels of stress and anxiety and were receptive to use of the service. In post-implementation surveys (n=42), 88% perceived a benefit of the service on their neonatal experience. Families rated a positive impact of the service on anxiety, sleep, family involvement and relationships with staff. Qualitative responses indicated enhanced emotional closeness, increased involvement in care and a positive effect on breastmilk expression. Seventy-seven post-implementation staff surveys were also collected. Staff rated the service as easy to use, with minimal impact on workload. Seventy-one percent (n=55) felt the service had a positive impact on relationships with families. Staff identified the need to manage parental expectations in relation to the number of videos that could be sent. Conclusions: Asynchronous video messaging improves parental experience, emotional closeness to their baby and builds supportive relationships between families and staff. Asynchronous video supports models of family integrated care and can mitigate family separation, which could be particularly relevant during the COVID-19 pandemic.https://doi.org/10.1136/archdischild-2020-319353106pubpub

A Neuro-hormonal Circuit for Paternal Behavior Controlled by a Hypothalamic Network Oscillation

Parental behavior is pervasive throughout the animal kingdom and essential for species survival. However, the relative contribution of the father to offspring care differs markedly across animals, even between related species. The mechanisms that organize and control paternal behavior remain poorly understood. Using Sprague-Dawley rats and C57BL/6 mice, two species at opposite ends of the paternal spectrum, we identified that distinct electrical oscillation patterns in neuroendocrine dopamine neurons link to a chain of low dopamine release, high circulating prolactin, prolactin receptor-dependent activation of medial preoptic area galanin neurons, and paternal care behavior in male mice. In rats, the same parameters exhibit inverse profiles. Optogenetic manipulation of these rhythms in mice dramatically shifted serum prolactin and paternal behavior, whereas injecting prolactin into non-paternal rat sires triggered expression of parental care. These findings identify a frequency-tuned brain-endocrine-brain circuit that can act as a gain control system determining a species’ parental strategy

A Neuro-hormonal Circuit for Paternal Behavior Controlled by a Hypothalamic Network Oscillation

Parental behavior is pervasive throughout the animal kingdom and essential for species survival. However, the relative contribution of the father to offspring care differs markedly across animals, even between related species. The mechanisms that organize and control paternal behavior remain poorly understood. Using Sprague-Dawley rats and C57BL/6 mice, two species at opposite ends of the paternal spectrum, we identified that distinct electrical oscillation patterns in neuroendocrine dopamine neurons link to a chain of low dopamine release, high circulating prolactin, prolactin receptor-dependent activation of medial preoptic area galanin neurons, and paternal care behavior in male mice. In rats, the same parameters exhibit inverse profiles. Optogenetic manipulation of these rhythms in mice dramatically shifted serum prolactin and paternal behavior, whereas injecting prolactin into non-paternal rat sires triggered expression of parental care. These findings identify a frequency-tuned brain-endocrine-brain circuit that can act as a gain control system determining a species’ parental strategy

Incidence and phenotypes of childhood-onset genetic epilepsies:a prospective population-based national cohort

Epilepsy is common in early childhood. In this age group it is associated with high rates of therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number of genes, with wide ranging functions, are implicated in its aetiology, especially in those with therapy-resistant seizures. Identifying the more common single-gene epilepsies will aid in targeting resources, the prioritization of diagnostic testing and development of precision therapy. Previous studies of genetic testing in epilepsy have not been prospective and population-based. Therefore, the population-incidence of common genetic epilepsies remains unknown. The objective of this study was to describe the incidence and phenotypic spectrum of the most common single-gene epilepsies in young children, and to calculate what proportion are amenable to precision therapy. This was a prospective national epidemiological cohort study. All children presenting with epilepsy before 36 months of age were eligible. Children presenting with recurrent prolonged (>10 min) febrile seizures; febrile or afebrile status epilepticus (>30 min); or with clusters of two or more febrile or afebrile seizures within a 24-h period were also eligible. Participants were recruited from all 20 regional paediatric departments and four tertiary children’s hospitals in Scotland over a 3-year period. DNA samples were tested on a custom-designed 104-gene epilepsy panel. Detailed clinical information was systematically gathered at initial presentation and during follow-up. Clinical and genetic data were reviewed by a multidisciplinary team of clinicians and genetic scientists. The pathogenic significance of the genetic variants was assessed in accordance with the guidelines of UK Association of Clinical Genetic Science (ACGS). Of the 343 patients who met inclusion criteria, 333 completed genetic testing, and 80/333 (24%) had a diagnostic genetic finding. The overall estimated annual incidence of single-gene epilepsies in this well-defined population was 1 per 2120 live births (47.2/100 000; 95% confidence interval 36.9–57.5). PRRT2 was the most common single-gene epilepsy with an incidence of 1 per 9970 live births (10.0/100 000; 95% confidence interval 5.26–14.8) followed by SCN1A: 1 per 12 200 (8.26/100 000; 95% confidence interval 3.93–12.6); KCNQ2: 1 per 17 000 (5.89/100 000; 95% confidence interval 2.24–9.56) and SLC2A1: 1 per 24 300 (4.13/100 000; 95% confidence interval 1.07–7.19). Presentation before the age of 6 months, and presentation with afebrile focal seizures were significantly associated with genetic diagnosis. Single-gene disorders accounted for a quarter of the seizure disorders in this cohort. Genetic testing is recommended to identify children who may benefit from precision treatment and should be mainstream practice in early childhood onset epilepsy

Genetic epilepsy with febrile seizures plus: refining the spectrum

Objective: Following our original description of generalized epilepsy with febrile seizures plus (GEFS1) in 1997, we analyze the phenotypic spectrum in 409 affected individuals in 60 families (31 new families) and expand the GEFS1 spectrum. Methods: We performed detailed electroclinical phenotyping on all available affected family members. Genetic analysis of known GEFS1 genes was carried out where possible. We compared our phenotypic and genetic data to those published in the literature over the last 19 years. Results: We identified new phenotypes within the GEFS1 spectrum: focal seizures without preceding febrile seizures (16/409 [4%]), classic genetic generalized epilepsies (22/409 [5%]), and afebrile generalized tonic-clonic seizures (9/409 [2%]). Febrile seizures remains the most frequent phenotype in GEFS1 (178/409 [44%]), followed by febrile seizures plus (111/409 [27%]). One third (50/163 [31%]) of GEFS1 families tested have a pathogenic variant in a known GEFS1 gene. Conclusion: As 37/409 (9%) affected individuals have focal epilepsies, we suggest that GEFS1 be renamed genetic epilepsy with febrile seizures plus rather than generalized epilepsy with febrile seizures plus. The phenotypic overlap between GEFS1 and the classic generalized epilepsies is considerably greater than first thought. The clinical and molecular data suggest that the 2 major groups of generalized epilepsies share genetic determinants.National Health and Medical Research Council of Australia [628952, 1091593, 466671, 1006110, 1104831, 1032603, 1063799]SCI(E)ARTICLE121210-12198

Sexuality and succession law: beyond formal equality

This article endeavours to open up a dialogue between succession law and the field of gender, sexuality and the law. It presents a detailed analysis of five cases concerning inheritance disputes relating to lesbians or gay men. The sexuality of the parties in the cases is ‘doctrinally irrelevant’ but the analysis demonstrates the significance of sexuality in the resolution of the legal disputes. In doing so it identifies how legal discourse remains a critical site for the production of societal norms and in particular how lesbian and gay perspectives reveal the gendered assumptions underlying a number of key succession law doctrines. It emphasises the importance of taking difference seriously and the limits to formal legal equality

Neuronal antibody prevalence in children with seizures under 3 years:a prospective national cohort

Objective: To report the prevalence of anti-neuronal antibodies in a prospectively whole nation cohort of children presenting with seizures before their third birthday. Methods: This was a prospective population-based national cohort study involving all children presenting with new onset epilepsy or complex febrile seizures before their 3rd birthday over a three-year period. Patients with previously identified structural, metabolic or infectious cause for seizures were excluded. Serum samples were obtained at first presentation and tested for seven neuronal antibodies using live cell-based assays. Clinical data were collected using structured proformas at recruitment, and 24 months after presentation. In addition, patients with seizures and clinically suspected autoimmune encephalitis were independently identified by reviewing the case records of all children < 3 years in Scotland who had undergone electroencephalography (EEG). Results: 298 patients were identified, recruited and underwent autoantibody testing. Antibody positivity was identified in 18/298 (6.0%). The antibodies identified were: GABABR (n = 8, 2.7%), CASPR2 (n = 4, 1.3%), GlyR (n = 3, 1.0%), LGI1 (n = 2, 0.7%), NMDAR (n = 1, 0.3%), and GABAAR (n = 1, 0.3%). None of these patients had a clinical picture of autoimmune encephalitis. Seizure classification and clinical phenotype did not correlate with antibody positivity. Conclusions: Autoimmune encephalitis is very rare in early childhood. However serum neuronal antibodies are identified in 6.4% of children presenting with seizures < 3 years. Antibody testing should not be a routine clinical test in early childhood-onset epilepsy as in the absence of other features of autoimmune encephalitis antibody-positivity is of doubtful clinical significance. Antibody testing should be reserved for patients with additional features of encephalitis