The importance of genetic counselling for turner syndrome transition.

The healthcare transition (HCT) is the process of planning, monitoring, and adjusting the clinical management from children's care to adult specialists. Although this practice is common for all children, it is especially crucial (and challenging) for those with chronic disorders and genetic conditions that also involve mental health issues, requiring a multidisciplinary approach. In this review, we aim to assess the current status of transition for girls and young women with Turner syndrome (TS) as a model as it is one of the most common sexual chromosomal aneuploidies. We first describe the syndrome highlighting some of the challenges regarding behavioural, neurodevelopmental, and mental health characteristics that must be addressed for a successful HCT. Finally, we emphasize the importance of genetic counselling within multidisciplinary groups for the successful implementation of HCT, especially for girls and women with TS, to facilitate their adaptation and adhesion to the transition process.

Knowledge, attitudes and practices of psychiatrists in India regarding sudden unexpected death in epilepsy (SUDEP) and seizure-related harm.

Sudden unexpected death in Epilepsy (SUDEP) is one of the leading causes of death in people with epilepsy (PWE). Awareness and taking adequate preventive measures are pivotal to reducing SUDEP. Nearly 80% of PWE live in lower-middle-income countries (LMICs) such as India where for many, epilepsy management is by psychiatrists. To evaluate the knowledge, attitude and practices of Indian psychiatrists on SUDEP and seizure risk. A cross-sectional online survey of 12 Likert response questions using validated themes, was circulated among Indian Psychiatric Society members. Non-discriminatory exponential snowballing technique leading to convenience non-probability sampling was used. The inquiry involved SUDEP-related topics including the need for and importance of counselling. Descriptive statistics and the chi-square test were used for analysis. The psychiatrists responding (n = 134) were likely to be males (72.4 %), urban (94 %) and affiliated to academic institutions (76.1 %). Nearly all saw PWE monthly with over half (54 %) seeing more than 10. Nearly two-third (64.17 %) did not counsel PWE regarding SUDEP, due to fear of raising concerns in caregivers/family (33.3 %), patients (38.9 %) or lack of time (35.6 %), though 37 % had lost patients due to SUDEP. Over two-third (66.7 %) agreed risk counselling was important. Barriers included fear of raising concerns, limited time, and training. A strong need for national SUDEP guidelines (89 %) and suitable training (75.4 %) was expressed. Though epilepsy care is provided by a considerable number of psychiatrists, there is a poor understanding of SUDEP. Enhancing the awareness and understanding of SUDEP is likely to enhance epilepsy care.

Evaluating counselling skills of community health workers for pregnant adolescents in Limpopo province.

Background: Adolescent pregnancy carries significant global ramifications. Community health workers (CHWs) play a role in empowering adolescents through counselling skills, thereby promoting informed decision-making for better outcomes. Aim: The study aims to evaluate the counselling skills of CHWs in their efforts to support pregnant adolescents (PA) in Limpopo province. Setting: The research was carried out with CHWs in the Mopani and Vhembe districts of the Limpopo province. Methods: A quantitative descriptive approach was used to evaluate CHWs' counselling skills for PAs in Limpopo. A sample of 81 respondents was selected using simple random sampling. Ethical approval was obtained. Data were collected using a questionnaire guided by the Theory of Reasoned Action. Descriptive statistics were analysed using Statistical Package for Social Scientists version 24. The questionnaire's validity was assessed using Cronbach's alpha, resulting in a correlation coefficient of 0.710. Results: The study identified significant variations in counselling recommendations. Preparation: Using private space with fewer distractions showed considerable variability (standard deviation = 0.218). Introduction: High variability was observed in using the SOLER method (standard deviation = 0.316). Working phase: Suggesting rather than advising had notable variability (standard deviation = 0.396). Termination: Avoiding abrupt endings and informing clients about the session's conclusion demonstrated variability (standard deviation = 0.283). Additionally, the majority (64%) of the participants found record-keeping unnecessary, which demonstrated the highest variability (standard deviation = 0.482). Conclusion: The study revealed CHWs' proficiency in counselling techniques and emphasised the importance of following the counselling stages. Contribution: The research highlights the importance of evaluating the counselling skills of CHWs and identifying areas for improvement to develop targeted interventions and enhancing health outcomes for PAs.

The Landscape of Genomic Services for Inherited Retinal Degenerations (IRDs) Across Europe.

Purpose: To map the existing genomic services available for patients with IRDs across Europe. Methods: A survey was conducted to 24 ophthalmic and/or genetic specialists across 19 European countries. The survey was conducted in an interview style via zoom for participants from 17 out of 19 countries. Interviewees were clinical/medical/ophthalmic geneticists, ophthalmologists/retina specialists and internal medicine specialists. The survey focused on referral pathways, genetic counseling, insurance coverage, awareness of genetic testing and counseling for IRDs among practitioners and patients, and preferred testing methodologies. Results: Genomic services (testing and counselling) for IRDs vary among countries from an awareness, availability and insurance coverage perspective. Affordability could be a barrier for patients in countries without any payment scheme (eg, Poland) and in countries where only a targeted population is covered (eg, Bulgaria). Genetic counseling via qualified genetic counsellors did not exist in many countries. The level of awareness regarding the benefits of genetic testing in IRDs among healthcare professionals (HCPs) and patients was perceived as low in some countries. Panel-based next-generation sequencing (NGS) was the first test of choice for genetic testing in 68% of the studied countries. Conclusion: There is some disparity in the approach to genetic testing for IRDs across Europe. Greater awareness of genetic testing services is required among the eye care professional community. A revised approach to the provision of genetic testing services such as centralized free genetic testing with associated interpretation and genetic counselling may help in ensuring equitable access and reimbursement, which will empower patients through improved access to clinical trials, expedite innovation, improve access to therapy and the delivery of care.

Effect of WhatsApp-based BETTER model sexual counselling on sexual function and sexual quality of life in breast cancer survivors: a randomized control trial.

OBJECTIVE: The aim of the study was to determine the effect of WhatsApp-based BETTER sex counselling on sexual function and sexual quality of life in breast cancer survivors in a randomized control trial. METHODS: This is a randomized controlled trial in which a total of 90 breast cancer survivors were recruited using convenience sampling and then randomly assigned to two groups of WhatsApp-based BETTER model counselling and routine care. Data collection tools consisted of a demographic questionnaire, the Sexual Quality of Life-Female (SQOL-F) and the Sexual Function Index (FSFI-BC). Participants in the intervention group were given access to the 6-week program. The program consisted of six consultation and assignment packages covering all six steps of the BETTER model. Data were analyzed using SPSS software version 20. Chi-square test, independent samples t-test and repeated measures analysis of variance were used. The significance level (p-value) was considered to be less than 0.05. RESULTS: In the control group, the mean score of SQL scale changed from 35.16 ± 10.71 to 35.16 ± 12.97 (P > 0.05) and in the intervention group, it significantly increased from 34.76 ± 10.13 to 68.20 ± 20.48 (P < 0.001). Similarly, the comparison of mean of FSF in the control group showed a none-significant change from 58.13 ± 7.11 to 58.35 ± 6.11 (P > 0.05), and in the intervention group, it significantly improved from 59.49 ± 6.10 to 120.73 ± 25.54 (P < 0.001). The results of rANOVA indicated that there was a significant difference in the mean scores of the SQL and SFS between the two groups from pre- to post-intervention, and then over the 1-month follow-up period in the intervention group (p < 0.001). Considering partial eta squared, the effect of the intervention had the highest interaction effect on both variables of the sexual function index (η2 = 0.73) and sexual quality of life (η2 = 0.41). CONCLUSIONS: The intervention program was a successful model for improving female sexual quality of life and female sexual function in breast cancer survivors. TRIAL REGISTRATION: IRCT20210926052601N1, 7-11-2021.

Scoping review on natural language processing applications in counselling and psychotherapy.

Recent years have witnessed some rapid and tremendous progress in natural language processing (NLP) techniques that are used to analyse text data. This study endeavours to offer an up-to-date review of NLP applications by examining their use in counselling and psychotherapy from 1990 to 2021. The purpose of this scoping review is to identify trends, advancements, challenges and limitations of these applications. Among the 41 papers included in this review, 4 primary study purposes were identified: (1) developing automated coding; (2) predicting outcomes; (3) monitoring counselling sessions; and (4) investigating language patterns. Our findings showed a growing trend in the number of papers utilizing advanced machine learning methods, particularly neural networks. Unfortunately, only a third of the articles addressed the issues of bias and generalizability. Our findings provided a timely systematic update, shedding light on concerns related to bias, generalizability and validity in the context of NLP applications in counselling and psychotherapy.

Cannabis-related treatment demand at the eve of German cannabis legalization - a 20-years trend analysis.

Post-2000, the prevalence of cannabis consumption has been rising internationally. This paper investigates whether cannabis-related treatment demand in German outpatient addiction care facilities (OACFs) has been following this trend. Treatment demand related to cannabis use disorder (CUD) for the period 2001 to 2021 was investigated using data from the nation-wide standardized German Addiction Care Statistical Service. Analyses covered all and first-time treatment admissions, demographics, and treatment outcomes. We identified years with significant changes in slope or direction of trends through joinpoint regression. Trends within the CUD client population were contrasted with trends among the entire OACF client population. CUD is the second-most common cause for OACF admissions in Germany. Between 2001 and 2021, the share of CUD-related cases among total OACF caseload increased from 7.1 to 19.9%, whereby the share of first-time treatment admissions declined from 79.6 to 55.6%. The share of CUD client population > 35 years almost tripled from 6.0 to 17.4%, that of female client population rose from 15.6 to 18.1%. From 2001 to 2007, the share of CUD-related treatments completed with improved symptomatology increased from 54.7 to 65.6%, followed by a marginal decline. CUD-related treatment demand is growing in Germany's OACFs, involving a client population that is increasingly older and more experienced with the addiction care system. As current intervention programmes mainly target adolescents and young adults who have been consuming cannabis only for a short time, adapting service offers to the changing client profiles appears paramount to improve treatment effectiveness.

Can thyroid histomorphology identify patients with PTEN hamartoma tumour syndrome?

AIMS: The phosphatase and tensin homologue (PTEN) hamartoma tumour syndrome (PHTS) is a genetic disorder with variable clinical presentation and increased lifetime risk of multiorgan malignancies. The thyroid gland is commonly affected with follicular nodular disease (FND) and follicular cell-derived carcinomas. Histopathological and immunohistochemical assessment of thyroid disease in PHTS is essential to identify patients at-risk. METHODS AND RESULTS: In all, 30 PHTS patients with available thyroidectomy specimen material (2000-2023) and 31 control patients with FND and "adenomatous nodules" were retrieved. Histologic criteria, including the frequency of adenomatous-type nodules versus hyperplastic-type nodules, background and nodular lipomatous metaplasia, chronic lymphocytic thyroiditis, cytoplasmic clearing of follicular cells in nodules, nodule-in-nodule appearance, and spectrum of nuclear atypia between nodules were evaluated in both cohorts and a Thyroid Histomorphologic PHTS Score (THiPS) system was established with a cutoff of 4 points or higher being considered concerning for PHTS. In all, 27 PHTS (90%) and five control (16.1%) cases had THiPS ≥4. A PTEN immunohistochemical stain was evaluated in 25 cases of each cohort and showed nuclear and cytoplasmic loss of expression in all or most of the nodules of 24/25 PHTS cases. In 3/25 control cases, two with THiPS ≥4, had loss of expression in one to multiple nodules. Conventional papillary thyroid carcinomas in PHTS patients retained PTEN cytoplasmic expression. CONCLUSIONS: Our study supports that, although not specific, the finding of multiple histologic features is found more frequently in patients with PHTS compared to the non-PHTS control group. The THiPS system has high sensitivity for thyroid specimens from patients with PHTS.

Lifestyle predictors of colorectal cancer in European populations: a systematic review.

Background: Colorectal cancer (CRC) is the second most prevalent cancer in Europe, with one-fifth of cases attributable to unhealthy lifestyles. Risk prediction models for quantifying CRC risk and identifying high-risk groups have been developed or validated across European populations, some considering lifestyle as a predictor. Purpose: To identify lifestyle predictors considered in existing risk prediction models applicable for European populations and characterise their corresponding parameter values for an improved understanding of their relative contribution to prediction across different models. Methods: A systematic review was conducted in PubMed and Web of Science from January 2000 to August 2021. Risk prediction models were included if (1) developed and/or validated in an adult asymptomatic European population, (2) based on non-invasively measured predictors and (3) reported mean estimates and uncertainty for predictors included. To facilitate comparison, model-specific lifestyle predictors were visualised using forest plots. Results: A total of 21 risk prediction models for CRC (reported in 16 studies) were eligible, of which 11 were validated in a European adult population but developed elsewhere, mostly USA. All models but two reported at least one lifestyle factor as predictor. Of the lifestyle factors, the most common predictors were body mass index (BMI) and smoking (each present in 13 models), followed by alcohol (11), and physical activity (7), while diet-related factors were less considered with the most commonly present meat (9), vegetables (5) or dairy (2). The independent predictive contribution was generally greater when they were collected with greater detail, although a noticeable variation in effect size estimates for BMI, smoking and alcohol. Conclusions: Early identification of high-risk groups based on lifestyle data offers the potential to encourage participation in lifestyle change and screening programmes, hence reduce CRC burden. We propose the commonly shared lifestyle predictors to be further used in public health prediction modelling for improved uptake of the model.

Obesity Prevention in Early Life (OPEL) study: linking longitudinal data to capture obesity risk in the first 1000 days.

To develop robust prediction models for infant obesity risk, we need data spanning multiple levels of influence, including child clinical health outcomes (eg, height and weight), information about maternal pregnancy history, detailed sociodemographic information of parents and community-level factors. Few data sources contain all of this information. This manuscript describes the creation of the Obesity Prevention in Early Life (OPEL) database, a longitudinal, population-based database that links clinical data with birth certificates and geocoded area-level indicators for 19 437 children born in Marion County, Indiana between 2004 and 2019. This brief describes the methodology of linking administrative data, the establishment of the OPEL database, and the clinical and public health implications facilitated by these data. The OPEL database provides a strong basis for further longitudinal child health outcomes studies and supports the continued development of intergenerational linked clinical-public health databases.

Establishing consensus on nutrition competencies for medicine: a Delphi study.

Background: Significant research, regulatory bodies and even governmental resolutions have identified meaningful nutrition education for medical and other healthcare professionals as a priority. Doctors are well placed to provide nutrition care, yet nutrition education in medicine remains inadequate regardless of country, setting, or year of training. There remains a need to establish an accepted benchmark on nutrition competencies for medicine, as without consensus standards there is little likelihood of uniform adoption. Objective: This study aimed to establish consensus on nutrition competencies using a Delphi process to inform a framework for nutrition education in medicine. Methods: A three-round modified online Delphi survey of experts in healthcare practice, education and training, and experts by experience (service users) was conducted to provide a comprehensive consensus on nutrition competencies for medical practice. Results: Fifty-two experts (15.1% response rate) participated in Round 1, 42 completed Round 2 and 47 completed Round 3. Participants included medical professionals, dietitians, academics working in health professions education and policymakers from Australia, New Zealand, the UK and Northern Ireland. Twenty-seven service users (57.5% response rate) completed the Round 1 questionnaire, 19 completed Round 2 and 16 completed Round 3. By consensus, 25 nutrition competencies for medicine were defined. The service user panel identified an additional seven skills and attributes considered important in the receipt of nutrition care. Competencies that achieved consensus broadly fell into themes of team-based care, communication, professionalism (eg, attributes) and health promotion and disease prevention. This informs broad skills that may be taught in a nutrition context but could be included in other domains. Conclusions: The findings suggest doctors need the knowledge and skills to consider the findings from nutrition screening and assessment, coordinate nutrition care when an individual may benefit from further assessment or intervention and provide support for advice delivered by other experts as part of a multidisciplinary approach.

Evaluation of a 4-week interdisciplinary primary care cardiovascular health programme: impact on knowledge, Mediterranean Diet adherence and biomarkers.

Background: Cardiovascular disease (CVD) is the second-leading cause of death among Canadians. Clinical practice guidelines suggest that improvements to lifestyle, including dietary intake, can reduce the risk of CVD. Objectives: The primary aim of the study was to evaluate patient changes in adherence to the Mediterranean Diet (Medi-Diet) from baseline to 4-week and 6-month follow-up after participating in a 4-week, group-based, interdisciplinary cardiovascular health programme run by healthcare professionals (HCPs) in a primary care setting. Secondary outcomes included changes in blood pressure, total cholesterol, low-density lipoprotein-cholesterol, high-density lipoprotein cholesterol (HDL-c), triglycerides, non-HDL-c and haemoglobin A1c% from baseline to 6 months, and changes in knowledge scores from baseline to 4 weeks and 6 months. This study further aimed to compare outcomes between in-person programme delivery and virtual programme delivery during the COVID-19 pandemic. Methods: Participants (n=31) attended the Get Heart Smart (GHS) group-based educational and lifestyle behaviour change programme at the East Elgin Family Health Team for 4 weeks. Participants were 18 years or older and were referred by a HCP or self-referred to the GHS programme. Changes in the above-mentioned outcomes were evaluated. Due to the COVID-19 pandemic, the programme moved to a virtual mode of delivery, with 16 participants completing the programme in a virtual environment. Two-way repeated-measures analyses of variance were performed to explore if there were significant differences from baseline to 4-week and/or 6-month follow-up between groups (in-person compared with virtual) and within the pooled sample. Results: At baseline and 4-week follow-up, there were significant between-group differences in knowledge scores. After 6-month follow-up, there were statistically significant within-group improvements in Medi-Diet scores and knowledge scores in the pooled sample (n=31), in-person sample (n=15) and virtual sample (n=16). Apart from triglycerides, changes in biomarkers were all non-significant. Conclusions: The GHS programme effectively facilitated long-term (6-month) improved cardiovascular/lifestyle knowledge and adherence to the Medi-Diet. Transitioning to a virtual programme delivery did not impact the program's ability to motivate nutrition-related behaviour change.

MyFitnessPal smartphone application: relative validity and intercoder reliability among dietitians in assessing energy and macronutrient intakes of selected Filipino adults with obesity.

This study aimed to explore the validity of energy and macronutrient intake estimates provided by a popular nutrition tracking smartphone application. 37 obese Filipino adults and 3 nutritionist-dietitians participated in this study. Participants used MyFitnessPal to log their food intake for 5 days. They also completed paper-based food record forms at the same time. Dietitians then referred to each of the participants' completed food record forms to log the participants' food intakes and generated estimates of energy and nutrient intake using the same app. The researcher also referred to the participants' completed food record forms and generated energy and nutrient intake data using the Food Composition Tables (FCT)-the Philippine reference standard for estimating calorie and nutrient intakes. T-tests showed no statistical difference in energy and macronutrient data generated between participants and dietitians using MyFitnessPal app but Bland-Altman plots showed very weak to moderate agreements. T-tests revealed statistically significant difference between using the MyFitnessPal app and FCT in estimating energy, protein and fat intakes and Bland-Altman plots showed very weak to moderate agreement between MyFitnessPal and FCT. MyFitnessPal was found to underestimate the values for energy, carbohydrates and fat and overestimate values for protein when compared with estimates using FCT. Analysis of variance showed good intercoder reliability among dietitians, with the exception of fat intake estimates. The Goldberg approach showed very low likelihood of misreporting energy intake among the participants in this study. In this study, MyFitnessPal showed poor validity among Filipinos with obesity but with good reliability when used by dietitians. It also showed poor validity relative to the FCT. Prior nutrition knowledge is a factor in ensuring the accuracy of energy and nutrient intake data generated using MyFitnessPal app. It is recommended that users consult with dietitians for guidance on how to use these apps in weight management interventions.

Machine learning judged neutral facial expressions as key factors for a "good therapist" within the first five minutes: An experiment to simulate online video counselling.

Objective: Machine learning models were employed to discern patients' impressions from the therapists' facial expressions during a virtual online video counselling session. Methods: Eight therapists simulated an online video counselling session for the same patient. The facial emotions of the therapists were extracted from the session videos; we then utilized a random forest model to determine the therapist's impression as perceived by the patients. Results: The therapists' neutral facial expressions were important controlling factors for patients' impressions. A predictive model with three neutral facial features achieved an accuracy of 83% in identifying patients' impressions. Conclusions: Neutral facial expressions may contribute to patient impressions in an online video counselling environment with spatiotemporal disconnection. Innovation: Expression recognition techniques were applied innovatively to an online counselling setting where therapists' expressions are limited. Our findings have the potential to enhance psychiatric clinical practice using Information and Communication Technology.

Management of a giant adrenal schwannoma.

In this case report, we present a man in his 60s who presented with an incidentally discovered right adrenal mass, which turned out to be an adrenal schwannoma. This is a very rare tumour that originates from Schwann cells and involves the peripheral nerves. The tumour was removed by open adrenalectomy, and this 15-cm adrenal schwannoma is one of the largest reported in the literature, with none >16 cm having ever been reported. This case highlights the importance of keeping an open mind about the cause of an incidentally discovered adrenal mass, which is an increasingly common way for adrenal tumours to present given the increased access to cross-sectional imaging. As well as presenting the case and the pathological basis behind adrenal schwannomas, we include a review of the literature and a general discussion about incidentally discovered adrenal masses.

Gastro-oesophageal reflux: rare presentation of Sotos syndrome in a neonate.

Sotos syndrome is a disorder characterised by distinctive facial features, excessive growth during childhood and intellectual disability. While these criteria apply to children and adults, they fall short when applied to neonates. Hyperbilirubinaemia, large for gestational age, hypotonia and seizures, along with cardiac and renal anomalies, are known to be common presentations in neonates. Reports have also added hyperinsulinaemic hypoglycaemia as a presenting feature of Sotos syndrome in neonates. Here, we report a case of Sotos syndrome in a neonate who presented in the neonatal period with recurrent apnoeic episodes with hypotonia, which were later attributed to severe gastro-oesophageal reflux.

Health professionals' counselling on the use of infant formula: A scoping review.

OBJECTIVE: Many parents experience lack of support and access to resources on how to prepare, handle, and provide formula milk to their infants. The purpose of this scoping review was to map and describe key information in existing research about how healthcare professionals receive information and how they inform and counsel parents about formula milk. DESIGN: A scoping review fulfilling the PRISMA-ScR checklist criteria used systematic searches targeting the study objective in the databases Embase, MEDLINE, and CINAHL on February 8th and 9th, 2022. RESULTS: Six studies with 959 participants in total were included. The research designs were focus group studies with and without combining individual interviews, an individual interview study, a study consisting of individual interviews and ethnographic observations, a survey, and a two-phase study consisting of a qualitative interview and a quantitative survey. Findings indicate lack of evidence-based information provided about infant formula by health care professionals when they counsel parents on formula feeding. CONCLUSIONS: Few studies focus on how healthcare professionals inform and counsel parents about formula milk. Health authorities should provide more evidence-based information to make formula feeding more feasible. Due to conflicting and omitted information, mothers often receive poor counselling on formula feeding.

Patients' perspectives of the digital counselling competence of healthcare professionals-A qualitative descriptive study.

AIM: To describe the perspectives of patients using digital services on the digital counselling competence of healthcare professionals. DESIGN: A descriptive qualitative interview study. METHODS: The analysed data were collected in Finland during the spring of 2023 via 11 individual, semi-structured interviews from participants who had received video-mediated counselling. The interviews were carried out online through Microsoft Teams and adhered to an interview guide using main and ancillary questions. The data were analysed using inductive content analysis. RESULTS: The patients' perspectives of healthcare professionals' digital counselling competence were related to five categories: (1) competence in preparing for video-mediated counselling, (2) digital competence in implementing the video-mediated counselling, (3) competence in interacting with the patient during the video-mediated counselling, (4) competence in supporting the patient's self-management in video-mediated counselling and (5) competence in self-development as a digital counsellor. CONCLUSION: The results of this study indicate that healthcare professionals need to possess a wide range of digital counselling competencies when providing video-mediated counselling. This study thus lays the groundwork for future studies of patients' perspectives of healthcare professionals' digital counselling competence. IMPLICATIONS FOR THE PROFESSION AND/OR PATIENT CARE: The results of this study can be used to develop healthcare professionals' digital counselling competence and patient-centered care. The presented insights can also be used to map further research topics. REPORTING METHOD: The Consolidated criteria for reporting qualitative research (COREQ) checklist was used when reporting the results. PATIENT OR PUBLIC CONTRIBUTION: Patients who had experience in using digital services participated in the data collection of this study. IMPACT: What problem did the study address? Healthcare professionals may well need to develop new competencies as counselling is increasingly moving to digital environments. What were the main findings? The main areas of digital counselling competence that emerged from the patients' perspectives were competence in preparing for video-mediated counselling, digital competence, competence in interacting with the patient, competence in supporting self-management and competence in self-development as a digital counsellor. Where and on whom will the research have an impact? The research can be used to build and develop healthcare professionals' digital counselling competence, as well as improve the delivery of patient-centered care.

Autism spectrum: parents' perspectives reflecting the different needs of different families.

BACKGROUND: Parents of children on the autism spectrum often face great challenges in the care of their child. Early support tailored to families' individual needs is therefore crucial for the development and quality of life of both children on the autism spectrum and their families. However, to date it is unclear whether the support available meets the parents' needs. STUDY AIM: To investigate how the system of care, support, and therapies for children on the autism spectrum is perceived by their parents. METHOD: A total of 57 parents of Swiss children on the autism spectrum participated in an online survey, and 20 of them participated in additional semi-structured interviews. RESULTS: We found that parents of children on the autism spectrum may face substantial challenges and that social support is essential. Two thirds of the participating parents reported a long and difficult diagnostic process as challenging, and 60% expressed their need for closer follow-up after diagnosis and more support. Only one third of the parents stated that they manage their everyday lives well, whereas 17.5% felt exhausted, and more than half of the parents responded that they felt challenged. One fifth indicated that they had poor family support, and half reported substantial financial challenges. At the same time, most families also emphasize how important their neurodivergent children are to the family`s life together. CONCLUSION: It is important that primary pediatricians not only initiate the diagnostic process, but also assess the different needs of the different family independent of the diagnosis and, if necessary, initiate adequate measures or guide parents to institutions in charge. Parents who do not actively express their individual needs should nevertheless be advised about support services, including financial counseling. The positive aspects mentioned by families can be emphasized and used as resources to improve their quality of life.