Maria Gudbrandsen

Families affected by 22q11.2 deletion syndrome (22q) face complex health and mental health challenges, yet their lived experiences, particularly within the UK, remain underexplored. This study aimed to understand how families navigate care systems, mental health provision, and the transition to adulthood. Using a participatory action research (PAR) framework, five young adults with 22q and six parents were interviewed, with a steering group co-developing the research questions to ensure relevance and accessibility. Thematic analysis revealed five key themes: lack of professional awareness and diagnostic delays; fragmented and generic care pathways; emotional burden of parental advocacy; systemic gaps during transition to adulthood; and the enabling role of supportive relationships and environments. These experiences highlight a need for holistic, collaborative models of care, improved professional training, and inclusive support systems tailored to the unique needs of individuals with 22q. By centring family voices, this study offers critical insights into systemic barriers and facilitators in the UK, with implications for policy, practice, and future research.

Children and young people with 22q11.2 deletion syndrome (22q) face unique educational and wellbeing challenges that are often poorly understood in mainstream schools. This participatory action research (PAR) aimed to produce a practical, school-based toolkit to support the needs of pupils with 22q with a focus on wellbeing and inclusive practice. Participants included educational professionals (N = 7), young people with 22q and their parents (N = 9), and staff in schools (N = 3). Data were collected through questionnaires, a co-production workshop, and a focus group, and analyzed thematically. Participants collaboratively designed three resources; an infographic poster, a pocket guide for staff, and a short, animated video aimed at peers. Survey findings identified key gaps in staff knowledge, inconsistent provision, especially for transition, and limited wellbeing support, in line with the authors’ previous research. These findings helped to inform the development of the resources, which were praised by staff in schools for clarity, adaptability and alignment with existing practices. This study demonstrated how co-produced, low-cost resources can enhance awareness, promote inclusion and support the holistic wellbeing of pupils with 22q. This approach offers a scalable model for addressing similar gaps across wider SEND.

Purpose: Globalisation and the opening of cross-border work opportunities have led to an increase in individuals relocating from their native country to another for professional reasons, a phenomenon called “expatriation”. A wealth of research has focused on expatriation from an adult perspective, but there is also a growing inter-disciplinary literature on how expatriation is affecting the children of adult expatriates. The purpose of this paper is to synthesise the recent published literature on the psychological impact of expatriation on the mental health of these children and adolescent expatriates.Design/methodology/approach: A narrative synthesis approach was adopted in order to synthesise evidence from 12 original, peer-reviewed papers with research relevant to the topic.Findings: Findings indicate a risk of affective disorders as a result of expatriation experiences, and lower emotional stability with increased stress, predominantly for adolescent expatriates. Some maladaptive behaviours, such as over-reliance on digital technologies, are also noted. Positive gains of expatriation centre around personality development domains, such as cognitive flexibility, open-mindedness and empathy.Research limitations/implications: Future research can delve further into the mental health of expatriate youths, to inform clinical practice and policy making, as well as help address diagnostic, treatment and prevention issues that this young, developing population may face.Originality/value: This paper focuses solely on children and adolescent expatriates, that may be under-represented in the wider expatriate literature, and considers the psychological outcomes and the potential risks and benefits of expatriation on their mental health.

Children and young people (CYP) with special educational needs and disabilities (SEND) comprise over 1.6 million pupils in classrooms in England. However, evidence suggests pupils’ learning and wellbeing needs are often missed or unmet and legislation designed to increase families’ decision-making in education provision has not been translated into practice. The current participatory action research study investigated the perceptions and experiences of a specific population of SEND pupils in mainstream schooling—CYP with 22q11.2 deletion syndrome (22q). Participants included existing and previous mainstream pupils and their parents (n = 8 parent−CYP dyads). Data were collected through semi-structured interviews, and a hybrid inductive-deductive thematic analysis was conducted. Five superordinate themes were generated: minding the gaps in school support; my mental wellbeing story; power and influence; getting it wrong: failing CYP and families; and getting it right: from surviving to thriving. Findings provided authentic insights into the lived experiences of support for CYP with 22q which resonate with the wider SEND population. These findings can help to inform more inclusive practice in mainstream settings. An affirmative model which places SEND pupils and parents at the heart of meaningful reform is urgently needed in schools. Collaborative work among all key stakeholders is paramount to ensure that strategies are genuinely co-produced, co-owned and robustly evidence-based.

Background: 22q11.2 Deletion Syndrome (22qDel) is a copy number variant (CNV) associated with psychosis and other neurodevelopmental disorders. Adolescents at clinical high risk for psychosis (CHR) have subthreshold psychosis symptoms without known genetic risk factors. Whether common neural substrates underlie these distinct high-risk populations is unknown. We compared functional brain measures in 22qDel and CHR cohorts and mapped results to biological pathways. Methods: We analyzed two large multi-site cohorts with resting-state functional MRI (rs-fMRI): 1) 22qDel (n=164, 47% female) and typically developing (TD) controls (n=134, 56% female); 2) CHR individuals (n=244, 41% female) and TD controls (n=151, 46% female) from the North American Prodrome Longitudinal Study-2. We computed global brain connectivity (GBC), local connectivity (LC), and brain signal variability (BSV) across cortical regions, testing case-control differences for 22qDel and CHR separately. Group difference maps were related to published brain maps using autocorrelation-preserving permutation. Results: BSV, LC, and GBC are significantly disrupted in 22qDel compared with TD controls (False Discovery Rate q<0.05). Spatial maps of BSV and LC differences are highly correlated with each other, unlike GBC. In CHR, only LC is significantly altered versus controls, with a different spatial pattern compared to 22qDel. Group differences map onto biological gradients, with 22qDel effects strongest in regions with high predicted blood flow and metabolism. Conclusion: 22qDel and CHR exhibit divergent effects on fMRI temporal variability and multi-scale functional connectivity. In 22qDel, strong and convergent disruptions in BSV and LC not seen in CHR individuals suggest distinct functional brain alterations.

Dopaminergic dysregulation is one of the leading hypotheses for the pathoetiology underlying psychotic disorders such as schizophrenia. Molecular imaging studies have shown increased striatal dopamine synthesis capacity (DSC) in schizophrenia and people in the prodrome of psychosis. However, it is unclear if genetic risk for psychosis is associated with altered DSC. To investigate this, we recruited healthy controls and two antipsychotic naive groups of individuals with copy number variants, one with a genetic deletion at chromosome 22q11.2, and the other with a duplication at the same locus, who are at increased and decreased risk for psychosis, respectively. Fifty-nine individuals (21 with 22q11.2 deletion, 12 with the reciprocal duplication and 26 healthy controls) received clinical measures and [18F]-DOPA PET imaging to index striatal Ki^cer. There was an inverse linear effect of copy number variant number on striatal Ki^cer value (B = −1.2 × 10⁻³, SE = 2 × 10⁻⁴, p < 0.001), with controls showing levels intermediate between the two variant groups. Striatal Ki^cer was significantly higher in the 22q11.2 deletion group compared to the healthy control (p < 0.001, Cohen’s d = 1.44) and 22q11.2 duplication (p < 0.001, Cohen’s d = 2) groups. Moreover, Ki^cer was positively correlated with the severity of psychosis-risk symptoms (B = 730.5, SE = 310.2, p < 0.05) and increased over time in the subject who went on to develop psychosis, but was not associated with anxiety or depressive symptoms. Our findings suggest that genetic risk for psychosis is associated with dopaminergic dysfunction and identify dopamine synthesis as a potential target for treatment or prevention of psychosis in 22q11.2 deletion carriers.

22q11.2 deletion syndrome (22q11.2DS) is a genetic condition accompanied by a range of psychiatric manifestations, including autism spectrum disorder (ASD). It remains unknown, however, whether these symptoms are mediated by the same or distinct neural mechanisms as in idiopathic ASD. Here, we examined differences in lGI associated with ASD in 50 individuals with 22q11.2DS (n = 25 with ASD, n = 25 without ASD) and 81 individuals without 22q11.2DS (n = 40 with ASD, n = 41 typically developing controls). We initially utilized a factorial design to identify the set of brain regions where lGI is associated with the main effect of 22q11.2DS, ASD, and with the 22q11.2DS-by-ASD interaction term. Subsequently, we employed canonical correlation analysis (CCA) to compare the multivariate association between variability in lGI and the complex clinical phenotype of ASD between 22q11.2DS carriers and noncarriers. Across approaches, we established that even though there is a high degree of clinical similarity across groups, the associated patterns of lGI significantly differed between carriers and noncarriers of the 22q11.2 microdeletion. Our results suggest that ASD symptomatology recruits different neuroanatomical underpinnings across disorders and that 22q11.2DS individuals with ASD represent a neuroanatomically distinct subgroup that differs from 22q11.2DS individuals without ASD and from individuals with idiopathic ASD.

Postnatal depression (PND) has an estimated prevalence of 6.5 to 12.9%. In addition to the direct consequences for women, PND also interferes with the maternal-infant interaction, contributing to long-term cognitive and emotional impairments in exposed offspring. It is unclear how PND differs from major depressive disorder (MDD) more generally, and if PND represents a distinct subtype of depression. We explored whether women with a history of PND have specific differences in brain activation associated with sex hormone changes during the late luteal phase of the menstrual cycle, compared to parous women with either a past history of MDD outside of the postnatal period, or an absent history of MDD (‘never depressed’). Thirty mothers (history of PND (n = 10), history of MDD (n = 10), and ‘never depressed’ (n = 10)) underwent blood-oxygen-level-dependent (BOLD) functional magnetic resonance imaging (fMRI) acquisition during an emotional faces task. Amygdala activity was analysed using a region of interest (small volume correction) approach. There was a significant reduction in BOLD response to positive emotional faces in the right amygdala in women with a history of PND compared to women with a history of MDD. A similar but non-significant trend was found in the left amygdala in women with a history of PND compared to ‘never depressed’ women. Our findings support the hypothesis that women with vulnerability to PND represent a distinct subgroup of women with a differential sensitivity to changes in sex hormones. Further, albeit highly tentative, they provide a putative biomarker that could assist in detection of women at-risk to PND.

The first published version of this article neglected to acknowledge the study's funding from EU AIMS and AIMS-2-TRIALS. This has been corrected online and is correct in print. The authors regret the omission.