Potentials of artificial intelligence in familial hypercholesterolemia: Advances in screening, diagnosis, and risk stratification for early intervention and treatment.

Familial hypercholesterolemia (FH) poses a global health challenge due to high incidence rates and underdiagnosis, leading to increased risks of early-onset atherosclerosis and cardiovascular diseases. Early detection and treatment of FH is critical in reducing the risk of cardiovascular events and improving the long-term outcomes and quality of life for affected individuals and their families. Traditional therapeutic approaches revolve around lipid-lowering interventions, yet challenges persist, particularly in accurate and timely diagnosis. The current diagnostic landscape heavily relies on genetic testing of specific LDL-C metabolism genes, often limited to specialized centers. This constraint has led to the adoption of alternative clinical scores for FH diagnosis. However, the rapid advancements in artificial intelligence (AI) and machine learning (ML) present promising solutions to these diagnostic challenges. This review explores the intricacies of FH, highlighting the challenges that are encountered in the diagnosis and management of the disorder. The revolutionary potential of ML, particularly in large-scale population screening, is highlighted. Applications of ML in FH screening, diagnosis, and risk stratification are discussed, showcasing its ability to outperform traditional criteria. However, challenges and ethical considerations, including algorithmic stability, data quality, privacy, and consent issues, are crucial areas that require attention. The review concludes by emphasizing the significant promise of AI and ML in FH management while underscoring the need for ethical and practical vigilance to ensure responsible and effective integration into healthcare practices.

[Activities of the "Amae" mobile team for early intervention in perinatal care]. / Activités de l'équipe mobile d'intervention précoce en périnatalité "Amae".

In 2023, the "Amae" mobile perinatal early intervention team in the child psychiatry department of the Pitié-Salpêtrière hospital followed 49 families for almost 412 home visits. The coexistence of biopsychosocial vulnerability factors was the rule. Generally requested by maternity hospitals (45% in antenatal care), the team offers care focused on parent-child bonds during visits at home, and facilitates the articulation of the different fields involved in contexts at high risk of care breakdown.

Supporting people in Early Intervention in Psychosis services: the role of primary care.

BACKGROUND: Early Intervention in Psychosis (EIP) services offer treatment to people experiencing a first episode of psychosis. Service users may be referred from primary care and discharged directly back at the end of their time in an EIP service. AIM: To explore the role of primary care in supporting EIP service users (SUs) and to understand how to improve collaboration between primary and specialist care. METHOD: Qualitative study comprising semi-structured interviews with SUs, carers, healthcare professionals (HCPs), managers, and commissioners. Interviews were conducted either online or by telephone. Thematic analysis was carried out using principles of constant comparison. Patient and public involvement were key to all stages, including data analysis. RESULTS: In total, 55 interviews were conducted with SUs (n = 13), carers (n = 10), and GPs, EIP HCPs, managers, and commissioners (n = 33). GPs reported difficulties in referring people into EIP services and little contact with SUs while in EIP services, even about physical health. GPs suggested they were not included in planning discharge from EIP to primary care. SUs and carers reported that transition from EIP can lead to uncertainty, distress, and exacerbation of symptoms. GPs reported only being made aware of patients on or after discharge, with no contact for 3 years. GPs described difficulty managing complex medication regimes, and barriers to re-referral to mental health services. CONCLUSION: GPs have a key role in supporting people within EIP services, specifically monitoring and managing physical health. Inclusion of GPs in planning discharge from EIP services is vital.

Sociodemographic and clinical correlates of hallucinations in patients entering an early intervention program for first episode psychosis.

Hallucinations are a core feature of psychosis, and their severity during the acute phase of illness is associated with a range of poor outcomes. Various clinical and sociodemographic factors may predict hallucinations and other positive psychotic symptoms in first episode psychosis (FEP). Despite this, the precise factors associated with hallucinations at first presentation to an early intervention service have not been extensively researched. Through detailed interviews and chart reviews, we investigated sociodemographic and clinical predictors in 636 minimally-medicated patients who entered PEPP-Montréal, an early intervention service for FEP, between 2003 and 2018. Hallucinations were measured using the Scale for the Assessment of Positive Symptoms (SAPS), while negative symptoms were assessed using the Scale for the Assessment of Negative symptoms (SANS). Depressive symptoms were evaluated through the Calgary Depression Scale for Schizophrenia (CDSS), and anxiety symptoms via the Hamilton Rating Scale for Anxiety (HAS). A majority (n = 381, 59.9 %) of the sample presented with clinically significant hallucinations (SAPS global hallucinations score ≥ 3) at program entry. These patients had an earlier age at onset, fewer years of education, and a higher severity of delusions, depression and negative symptoms than those without clinical-level hallucinations. These results suggest that individuals with clinically significant hallucinations at admission tend to be younger and have a greater overall symptom burden. This makes it especially important to monitor hallucinations alongside delusions, depression and negative symptoms in order to identify who might benefit from targeted interventions. The implications of these findings for early intervention and person-centered care are discussed.

The impact of early intervention psychosis services on hospitalisation experiences: a qualitative study with young people and their carers.

BACKGROUND: While a core aim of early intervention psychosis services (EIPS) is to prevent hospitalisation, many with a first episode of psychosis (FEP) will require inpatient care. We explored young people's (YP) and their carers' hospitalisation experiences prior to and during EIPS engagement and how factors across these services influenced these experiences. METHODS: Using purposive sampling, we recruited twenty-seven YP, all of whom had been involved with the hospital system at some stage, and twelve support persons (parents and partners of YP) from state and federally funded EIPS in Australia with different models of care and integration with secondary mental health care. Audio-recorded interviews were conducted face-to-face or via phone. A diverse research team (including lived experience, clinician, and academic researchers) used an inductive thematic analysis process. RESULTS: Four key themes were identified as influential in shaping participant's hospital experiences and provide ideas for an approach to care that is improved by the effective coordination of that care, and includes this care being delivered in a trauma informed manner: (1) A two-way street: EIPS affected how participants experienced hospitalisation, and vice versa; (2) It's about people: the quality and continuity of relationships participants had with staff, in hospital and at their EIPS, was central to their experience; (3) A gradual feeling of agency: participants viewed EIPS as both reducing involuntary care and supporting their self-management; and (4) Care coordination as navigation for the healthcare system: great when it works; frustrating when it breaks down. CONCLUSIONS: Hospitalisation was viewed as a stressful and frequently traumatic event, but a approach to care founded on trust, transparency, and collaboration that is trauma-informed ameliorated this negative experience. Consistent EIPS care coordination was reported as essential in assisting YP and carers navigate the hospital system; conversely, discontinuity in EIPS staff and lack of integration of EIPS with hospital care undermined the positive impact of the EIPS care coordinator during hospitalisation. Care coordinator involvement as a facilitator, information provider, and collaborator in inpatient treatment decisions may improve the usefulness and meaningfulness of hospital interventions.

Early use of high-efficacy therapies in multiple sclerosis in the United States: benefits, barriers, and strategies for encouraging adoption.

Multiple sclerosis (MS) is characterized by progressive neuroinflammation and neurodegeneration from disease onset that, if left untreated, can result in the accumulation of irreversible neurological disability. Early intervention with high-efficacy therapies (HETs) is increasingly recognized as the best strategy to delay or mitigate disease progression from the earliest stages of the disease and to prevent long-term neurodegeneration. Although there is growing clinical and real-world evidence supporting early HET intervention, foregoing this strategy in favor of a traditional escalation approach prioritizing lower-efficacy disease-modifying therapies remains a common approach in clinical practice. This review explores potential health care professional- and patient-related barriers to the early use of HETs in patients with MS in the United States. Barriers can include regulatory and reimbursement restrictions; knowledge gaps and long-term safety concerns among health care professionals; and various individual, cultural, and societal factors affecting patients. Potential strategies for overcoming these barriers and encouraging early HET use are proposed.

Comparative efficacy of family mediated intervention versus early intensive behavioural intervention on symptom domains in children with autism spectrum disorder: A randomized controlled trial.

BACKGROUND: Family Mediated Intervention (FMI) and Early Intensive Behavioural Intervention (EIBI) are found to be standard of care for children with Autism Spectrum Disorder (ASD). Comparison of their efficacy were assessed using ISAA as primary outcome measure. METHODS: This study was a parallel arm, open label, randomized active- controlled non-inferiority clinical trial. 50 Children diagnosed with ASD were randomized into FMI and EIBI groups. Clinical status was checked by using Indian scale for assessment of autism (ISAA), Oro- motor and sensory profile at baseline, after three and six months. RESULTS: Difference between change in mean ISAA score between FMI and EIBI group at the end of 6 months as per protocol (PP) analysis was -7.23 (CI=-18.41, 3.94), which was within pre-defined clinically relevant non-inferiority (NI) margin of - 24. FMI was found to be non-inferior to EIBI at the end of 6 months as the lower bound of 95% CI (-18.41) for ISAA score was higher than NI margin. ISAA scores were found to be statistically lower in both FMI and EIBI groups at the end point compared to baseline which indicated improvement in symptom severity. CONCLUSION: FMI was non-inferior to EIBI as therapy for children with ASD at the end of six months. Finding also indicated longer duration of treatment is required for FMI to be superior. FMI can be recommended for children with ASD in view of improved ISAA scores reported in our study. CLINICAL TRIAL REGISTRATION NUMBER: CTRI/2020/08/027099 (Registered with Clinical Trials Registry- India).

Early Psychosis Intervention and Primary Care: A Mixed Methods Study of Family Physician Knowledge, Attitudes, Preferences, and Needs.

Family physicians (FPs) play an important but underappreciated role in the pathways to care for people with early psychosis. We conducted a mixed-methods study to describe the knowledge, attitudes, preferences, and needs of FPs towards the recognition and management of early psychosis. We sent a cross-sectional postal survey to a random sample of FPs in Ontario, Canada, and conducted in-depth qualitative interviews with twenty. FPs were generally aware of important early psychosis symptoms, however, there were some knowledge gaps. Among surveyed FPs, 25% were unsure of the availability of early psychosis intervention services in their region, and most (80%) would prefer to co-manage with specialists. In the qualitative interviews, FPs expressed varied comfort levels in recognizing psychosis, and that timely access to psychiatry was a main concern. Our findings suggest that FPs require better support in recognizing and managing early psychosis and facilitating connections with specialized care.

soulspace: Integrated youth mental health care in Berlin, Germany-An introduction to the program and a description of its users.

AIM: A substantial gap between young people's need for mental health care services and their actual access to such services led worldwide organizations (e.g., the WHO) to recommend the implementation of early intervention programs and youth mental health services. Some countries around the world have established structures to meet this recommendation. In this paper, we describe soulspace as the first integrated youth mental health service for young people aged between 15 and 35 years in Berlin, Germany. METHODS: We introduce soulspace as easily accessible mental health care for young people, and we characterize soulspace along the lines of the internationally established eight key principles of integrated youth mental health services (Killackey, et al., 2020, World Economic Forum). Soulspace is a cooperation between clinical outpatient units of psychiatric clinics for adolescents and young adults as well as a community-based counselling service. It provides initial contact, counselling, diagnostics, and treatment. RESULTS: Our analyses of the pathways to soulspace and the characteristics of the soulspace users suggest that the low threshold is a facilitator to help finding for young people in comparison to more conventional early intervention models. That is, having transferred the early intervention center in a youth-facing counselling service as was done in soulspace seems to have reduced the threshold to seek help for families and for young people in need for support. CONCLUSIONS: In summary, with soulspace, an easily accessible mental health care service was established that integrates counselling and specialized psychiatric treatment if needed.

[Clinical characteristics of seizure-predominant autoimmune encephalitis and utility of anti-neuronal antibody scores for early treatment].

We analyzed 20 patients diagnosed with autoimmune neurological diseases with seizure predominance. In these patients, we examined the usefulness of Antibody Prevalence in Epilepsy and Encephalopathy (APE2) score and Antibodies Contributing to Focal Epilepsy Signs and Symptoms (ACES) score in autoimmune encephalitis (AE) for facilitating early treatment. APE2 score was positive in 19 of 20 patients. ACES score was positive in 15 of 20 patients, and 4 of 5 of the patients with negative ACES score did not have AE. Comprehensive assessment including the use of the above scores is desirable in the early stage of AE.

Population-based surveillance for birth defects potentially related to Zika virus infection including 3-year mortality and developmental outcomes, and Early Intervention Program service use-New York City, 2016 birth cohort.

BACKGROUND: In response to the 2015-2017 Zika virus outbreak, New York City (NYC) identified and monitored infants with birth defects potentially related to congenital Zika virus. METHODS: Administrative data matches were used to describe the birth characteristics of children born in 2016 meeting screening criteria for birth defects potentially related to congenital Zika virus infection relative to other NYC births and to monitor mortality and Early Intervention Program use through age 2. RESULTS: Among 120,367 children born in NYC in 2016, 463 met screening criteria and 155 met the Centers for Disease Control and Prevention's case definition for birth defects potentially related to congenital Zika virus infection (1.3 per 1000; 95% confidence interval [CI], 1.1-1.5). Post-neonatal deaths occurred among 7.7% of cases (12) and 5.2% of non-cases (8). Odds of referral to the Early intervention Program among children who met screening criteria were lower among children of mothers who were married (OR, 0.60; 95% CI, 0.37-0.97) and among children not classified as cases whose mothers were born in Latin America and the Caribbean (OR, 0.59; 95% CI, 0.37-1.09). DISCUSSION: Prevalence of birth defects potentially related to congenital Zika virus infection was similar to that seen in other jurisdictions without local transmission. Birth defects attributable to congenital Zika virus infection may also have been present among screened children who did not meet the case definition.

Early Intervention in Psychosis and Management of First Episode Psychosis in Low- and Lower-Middle-Income Countries: A Systematic Review.

BACKGROUND AND HYPOTHESIS: People with first-episode psychosis (FEP) in low- and lower-middle-income countries (LMIC) experience delays in receiving treatment, resulting in poorer outcomes and higher mortality. There is robust evidence for effective and cost-effective early intervention in psychosis (EIP) services for FEP, but the evidence for EIP in LMIC has not been reviewed. We aim to review the evidence on early intervention for the management of FEP in LMIC. STUDY DESIGN: We searched 4 electronic databases (Medline, Embase, PsycINFO, and CINAHL) to identify studies describing EIP services and interventions to treat FEP in LMIC published from 1980 onward. The bibliography of relevant articles was hand-searched. Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed. STUDY RESULTS: The search strategy produced 5074 records; we included 18 studies with 2294 participants from 6 LMIC countries. Thirteen studies (1553 participants) described different approaches for EIP. Pharmacological intervention studies (n = 4; 433 participants) found a high prevalence of metabolic syndrome among FEP receiving antipsychotics (P ≤ .005). One study found a better quality of life in patients using injectables compared to oral antipsychotics (P = .023). Among the non-pharmacological interventions (n = 3; 308 participants), SMS reminders improved treatment engagement (OR = 1.80, CI = 1.02-3.19). The methodological quality of studies evidence was relatively low. CONCLUSIONS: The limited evidence showed that EIP can be provided in LMIC with adaptations for cultural factors and limited resources. Adaptations included collaboration with traditional healers, involving nonspecialist healthcare professionals, using mobile technology, considering the optimum use of long-acting antipsychotics, and monitoring antipsychotic side effects.

Using implementation science to operate as a learning health system to improve outcomes in early psychosis.

AIM: Early interventions are well understood to improve psychosis outcomes, but their successful implementation remains limited. This article introduces a three-step roadmap for advancing the implementation of evidence-based practices to operate as a learning health system, which can be applied to early interventions for psychosis and is intended for an audience that is relatively new to systematic approaches to implementation. METHODS: The roadmap is grounded in implementation science, which specializes in methods to promote routine use of evidence-based innovations. The roadmap draws on learning health system principles that call for commitment of leadership, application of evidence, examination of care experiences, and study of health outcomes. Examples are discussed for each roadmap step, emphasizing both data- and stakeholder-related considerations applicable throughout the roadmap. CONCLUSIONS: Early psychosis care is a promising topic through which to discuss the critical need to move evidence into practice. Despite remarkable advances in early psychosis interventions, population-level impact of those interventions is yet to be realized. By providing an introduction to how implementation science principles can be operationalized in a learning health system and sharing examples from early psychosis care, this article prompts inclusion of a wider audience in essential discourse on the role that implementation science can play for moving evidence into practice for other realms of psychiatric care as well. To this end, the proposed roadmap can serve as a conceptual guiding template and framework through which various psychiatric services can methodically pursue timely implementation of evidence-based interventions for higher quality care and improved outcomes.

Commentary: Early intervention for conduct problems as a child protection strategy - reflections on Nobakht et al. (2023).

Adverse childhood experiences (ACEs), including child maltreatment and interparental aggression, are known to have far-reaching consequences for mental health across the lifespan. Emerging evidence, such as that reported by Nobakht et al. (Journal of Child Psychology and Psychiatry, 2023), indicates that child conduct problems (e.g. oppositional defiant disorder, conduct disorder) may not only result from adversity but also contribute to it through transactional cascades that amplify risk for adversity over time. This commentary addresses some of the key implications of this evidence for translation into practice. It is argued that child conduct problems can be viewed as modifiable determinants of adversity and that the early identification and treatment of child conduct problems may allow for the early identification and reduction of risk for numerous ACEs.

Monthly engagement with EIP keyworkers was associated with a five-fold increase in the odds of engagement with psychosocial interventions.

BACKGROUND: Early intervention in psychosis (EIP) supports people who are experiencing their first episode of psychosis (FEP). A new Model of Care (MoC) for EIP services was launched in Ireland in 2019. Three EIP demonstration sites were chosen to test this MoC through a 'hub and spoke' approach. These services were a new way of organising care for people experiencing FEP, based upon a recovery model of care, and which sought to standardise care, improve access by clinically led multidisciplinary teams. This included newly created EIP keyworker roles whereby keyworkers assumed responsibilities regarding assessment, comprehensive individual care planning and coordination of care. METHODS: A mixed methods design utilising the UK Medical Research Council's process evaluation framework. Purposive sampling techniques were utilised. Descriptive analyses and logistic regression were performed to examine how increased keyworker engagement influenced the use of other psychosocial interventions within the EIP demonstration sites. Thematic analyses was used for qualitative data. RESULTS: There was a strong positive relationship between keyworker contacts and psychosocial interventions offered. Specifically, the odds of achieving at least monthly engagement with cognitive behavioural therapy for psychosis (CBTp; (5.76 (2.43-13.64), p < 0.001), and behavioural family therapy (BFT; (5.52(1.63-18.69, p < 0.006)) increased by fivefold with each additional monthly keyworker contact. For individual placement support (IPS) each additional monthly keyworker contact was associated with a three-fold increase in the odds of achieving monthly attendance with IPS (3.73 (1.64-8.48), p < 0.002). Qualitative results found that the EIP keyworker role as viewed by both service users and staff as a valuable nodal point, with a particular emphasis on care coordination and effective communication. CONCLUSIONS: This study advances the understanding of keyworker effects through qualitative evidence of keyworkers functioning as a "linchpin" to the service, while the positive response association between keyworker contacts and engagement with other services provides quantitative support for keyworkers reducing the organisational or structural barriers to service access. Given the importance of these positions, health systems should ensure that EIP programmes identify qualified and experienced staff to fill these roles, as well as allocate the appropriate funding and protected time to support keyworker engagement and impact.

An analysis of interagency collaboration: Lessons learned from Colorado's early intervention program.

INTRODUCTION: The purpose of this study was to describe interagency collaboration in Part C Early Intervention (EI) programs. METHODS: Between 18 April and 9 May 2022, 48 EI service coordinators (SCs) from 14 programs in one state completed adapted versions of the Interagency Collaboration Activities Scale (IACAS) and Relational Coordination Survey (RCS). Assessing perceptions of shared structures (IACAS) and coordination quality (RCS), these combined measures summarized interagency collaboration with 11 organizations. Mean (SD) survey responses were estimated and ranked. RESULTS: Sample SCs represent a breadth of professional disciples and vary substantially in their current and desired collaborations. The quantity of SCs collaborating with organizations ranged from 0% to 98%. Nearly all (98%) reported collaborating with the school districts, few (15%) reported collaborating with insurance, and none reported collaborating with Supplemental Nutrition Assistance Program or Special Supplemental Nutrition Program for Women, Infants, and Children. The majority of SCs expressed desire to increase their collaborations with most of the listed organizations. The perceived quality of collaborations varied substantially at both individual and organizational levels. When comparing SC perceptions of shared structures and coordination quality, SCs reported more favourable collaborations with school districts (IACAS rank: first and RCS rank: first) and less favourable collaborations with insurance (IACAS rank: ninth and RCS rank: seventh). Some organizations rankings varied across both scales, including pediatric primary care (IACAS rank: third and RCS rank: eighth) and hospitals (IACAS rank: sixth and RCS rank: second). Overall, SCs reported low perceived existence of shared structures while coordination quality varied by organization. Opportunities for collaborative growth were identified. DISCUSSION: Despite its importance and required implementation in EI, perceptions of interagency collaboration varied substantially within and between EI programs. There is a suggested need to increase the quantity of SCs that collaborate and identified opportunities to increase the quality of collaborations that already exist.