Psychopathology in mothers of children with pathogenic copy number variants

Background: Caring for children with pathogenic neurodevelopmental Copy Number Variants (CNVs) (i.e., deletions and duplications of genetic material) can place a considerable burden on parents, and their quality of life. Our study is the first to examine the frequency of psychiatric diagnoses in mothers of children with CNVs compared to the frequency of psychiatric problems in age-matched mothers from a large community study. Methods: Case-control study. 268 mothers of children with a CNV diagnosed in a medical genetics clinic and 2,680 age-matched mothers taking part in the ALSPAC study. Results: Mothers of children with CNVs reported higher frequency of depression, anorexia, bulimia, alcohol abuse and drug addiction problems compared to the age-matched mothers from the community sample. Focusing on psychiatric problems arising immediately after the birth of the index child, the levels of depression symptoms were similar between the two groups (48% in mothers of children with CNVs vs. 44% in mothers of the community sample, p=0.43), but mothers of children with CNVs had higher frequency of anxiety symptoms (55%) compared to mothers from the community sample (30%, p=0.03). Conclusion: Our study highlights the need for health-care providers to devise treatment plans that not only focus on meeting the child’s needs, but also assessing and if needed, addressing the mental health needs of the parent

G64.5+0.9, a new shell supernova remnant with unusual central emission

We present observations between 1.4 and 18 GHz confirming that G64.5+0.9 is new Galactic shell supernova remnant, using the Very Large Array and the Arcminute Microkelvin Imager. The remnant is a shell ~8 arcmin in diameter with a spectral index of alpha = 0.47 +/- 0.03 (with alpha defined such that flux density S varies with frequency nu as S proportional to nu to the power of -alpha). There is also emission near the centre of the shell, ~1 arcmin in extent, with a spectral index of alpha = 0.81 +/- 0.02. We do not find any evidence for spectral breaks for either source within our frequency range. The nature of the central object is unclear and requires further investigation, but we argue that is most unlikely to be extragalactic. It is difficult to avoid the conclusion that it is associated with the shell, although its spectrum is very unlike that of known pulsar wind nebulae.Comment: 5 pages, 6 figures, submitted to MNRA

Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

Background Children with intellectual disability frequently have multiple co-morbid neuropsychiatric conditions and poor physical health. Genomic testing is increasingly recommended as a first-line investigation for these children. We aim to determine the effect of genomics, inheritance, and socioeconomic deprivation on neuropsychiatric risk in children with intellectual disability of genetic origin as compared with the general population. Methods IMAGINE is a prospective cohort study using online mental health and medical assessments in a cohort of 3407 UK participants with intellectual disability and pathogenic genomic variants as identified by the UK's National Health Service (NHS). Our study is on a subset of these participants, including all children aged 4–19 years. We collected diagnostic genomic reports from NHS records and asked primary caregivers to provide an assessment of their child using the Development and Well-Being Assessment (DAWBA), the Strengths and Difficulties Questionnaire (SDQ), the Adaptive Behaviour Assessment System 3 (ABAS-3), and a medical history questionnaire. Each child was assigned a rank based on their postcode using the index of multiple deprivation (IMD). We compared the IMAGINE cohort with the 2017 National Survey of Children's Mental Health in England. The main outcomes of interest were mental health and neurodevelopment according to the DAWBA and SDQ. Findings We recruited 2770 children from the IMAGINE study between Oct 1, 2014 and June 30, 2019, of whom 2397 (86·5%) had a basic assessment of their mental health completed by their families and 1277 (46·1%) completed a medical history questionnaire. The mean age of participants was 9·2 years (SD 3·9); 1339 (55·9%) were boys and 1058 (44·1%) were girls. 355 (27·8%) of 1277 reported a seizure disorder and 814 (63·7%) reported movement or co-ordination problems. 1771 (73·9%) of 2397 participants had a pathogenic copy number variant (CNV) and 626 (26·1%) had a pathogenic single nucleotide variant (SNV). Participants were representative of the socioeconomic spectrum of the UK general population. The relative risk (RR) of co-occurring neuropsychiatric diagnoses, compared with the English national population, was high: autism spectrum disorder RR 29·2 (95% CI 23·9–36·5), ADHD RR 13·5 (95% CI 11·1–16·3). In children with a CNV, those with a familial variant tended to live in more socioeconomically deprived areas than those with a de novo variant. Both inheritance and socioeconomic deprivation contributed to neuropsychiatric risk in those with a CNV. Interpretation Children with genomic variants and intellectual disability are at an increased risk of neuropsychiatric difficulties. CNV variant inheritance and socioeconomic deprivation also contribute to the risk. Early genomic investigations of children with intellectual disability could facilitate the identification of the most vulnerable children. Additionally, harnessing parental expertise using online DAWBA assessments could rapidly identify children with exceptional needs to child mental health services

Data Set that supports a PhD thesis: Developing and Testing a Brief Online Intervention Targeting Cannabis Related Psychotic Experiences

Data Set that supports a thesis as part of the Doctorate in Clinical Psychology Data collected via online source using Qualtrics. Outcome measures were completed by participants at three time-points. Time 1 (0 weeks; baseline), Time 2 (1 week post intervention; 7 weeks after Time 1 for control) and Time 3 (14 weeks after Time 1). The data was downloaded from Qualtrics to an SPSS file and analysed from there. Software required to interpret the data is: SPSSV28 Experimental condition involved 7 weekly online sessions hosted on survey platform Prolific. </span

Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia

β-thalassemia is characterised by the presence of an excess of α-globin chains, which contribute to erythrocyte pathology. Here the authors use CRISP/Cas9 to reduce α-globin expression in hematopoietic precursors, and show effectiveness in xenograft assays in mice