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In the medically assisted reproduction (MAR) pathway, one of the most complex phases is the end of the treatment. Unlike other medical contexts, there is no biological endpoint in the MAR setting. This absence makes the decision to end MAR treatment extremely challenging for both patients and healthcare professionals. Accordingly, our research aimed to examine the process related to the end of MAR treatment, as devised by healthcare professionals. Our sample included physicians, biologists, and psychologists aged 18 years with specialised training in assisted reproduction. Data were collected through four focus groups (in February-May 2023), focusing on the topic of the end of treatment (EoT) and its definition. Data were collected and analysed according to the principles of Grounded Theory. The findings shed light on the attributes and components related to the end of the treatment process. The central category \"the end of treatment\" consists of a definition of what is considered the end of treatment and the associated decision-making process. In the phase leading up to the EoT, the process is influenced by contextual and proximal factors, which interact and influence each other. To cope with and manage the EoT, healthcare providers adopt spontaneous strategies that lead to positive or negative outcomes. End-of-treatment management is a key facet of clinical practice. This contribution increased knowledge about EoT and highlighted healthcare professionals' perspectives, which should be considered for the implementation of best practice points and respect for patients' rights to the highest attainable standard of mental and physical health.

The advent of disease modifying therapies in spinal muscular atrophy (SMA) has increased life expectancy but also raising new challenges. We aimed to explore the neurobehavioral profile in SMA type I subjects and in those identified by newborn screening (NBS). Behavioral assessment included screening questionnaires (strengths and difficulties questionnaire (SDQ), social communication questionnaire (SCQ), and sensory profile 2 (SP2)), neurobehavioral observation, CARS2 and DSM-5 criteria. The cohort included thirty-one children (25 type I and 6 NBS) aged 2–10 years. On SDQ prosocial scale, 14/31 showed borderline or abnormal results. 6/14 had borderline scores at the SCQ questionnaire, while none had abnormal scores. Neurobehavioral observation suggested the presence of ASD in 3/31, confirmed by CARS2 and DSM-5 criteria. 5/31 showed other behavioral disorders. Our findings suggest that autism is present in SMA infants in a percentage slightly higher than in the general population. Other neurobehavioral difficulties are less frequent. Our study highlighted the challenges to select appropriate tools in infants with limited mobility and the need for a clear diagnostic pathway, starting with screening questionnaires followed by more appropriate diagnostic tools to reduce the number of false positive results.

IntroductionSharing bad news (SBN) is a recurring and stressful challenge for fertility staff and patients. Suboptimal SBN is associated with staff burnout, patient dissatisfaction with care and lack of trust in staff, potentially leading to patient discontinuation. Patients value staff having SBN skills, but staff feel unprepared to do this task. fertiShare is a 2-hour bespoke eLearning course to support fertility staff in SBN with their patients, organised into three modules, with each module offering video content-based lessons, simulated case studies showing optimal and suboptimal approaches to SBN and brief quizzes for self-reflection and assessment. This protocol aims to evaluate if it is feasible to implement fertiShare at UK-based fertility clinics and if it is acceptable to staff and patients.Methods and analysisMulticentre, two-arm, parallel-group, blinded, feasibility randomised controlled trial with 1:1 randomised staff allocation to fertiShare (intervention group) or general communication skills eLearning (control group). Six UK-based clinics, 60 staff spending a minimum of 10% week-time SBN and 360 patients having received bad news from participating staff within the last month will be recruited. Two cohorts of patients will be recruited, one after staff consent to the study and before fertiShare or control eLearning course (pretraining patient cohort) and another 1-month post staff training (post-training patient cohort). Outcome measures relate to demand, acceptability, implementation, practicality and limited efficacy testing, with the primary outcome being staff performance when SBN, reported by patients using an adapted version of the SBN Behavioural Assessment Scale. Recruitment and data collection will span from September 2025 to February 2026.Ethics and disseminationThe study was approved by the National Health Service Research Ethics Committee (23/LO/0864) and the Cardiff University – School of Psychology Research Ethics Committee (EC.23.08.08.6827). Results will be disseminated via publications in peer-reviewed journals, conference presentations and public engagement, and will inform if fertiShare should proceed to efficacy evaluation. Insights from this study can inform the implementation of other SBN training in fertility or other healthcare domains and improve understanding of the impact SBN training has on patient experience and outcomes.Trial registration numberNCT06587360, https://www.clinicaltrials.gov/

Objective The aim of this paper was to report the 2‐year follow‐up in type I patients treated with Nusinersen and to assess whether possible changes in motor function are related to the subtype, age, or SMN2 copy number. Methods Sixty‐eight patients, with ages ranging from 0.20 to 15.92 years (mean: 3.96; standard deviation: +3.90) were enrolled in the study. All patients were assessed using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the developmental section of the Hammersmith Infant Neurological Examination (HINE‐2) at the time they started treatment and 12 and 24 months after that. Results For both CHOP and HINE‐2 repeated measures analysis of variance showed a significant difference (P < 0.001) between baseline and 12 months, 12 months and 24 months, and baseline and 24‐month scores for the whole group. When age subgroups (<210 days, <2 years, 2–4 years, 5–11 years, 12–18 years) were considered, on the CHOP INTEND the difference was significant between baseline and 24 months in all age subgroups. On the HINE‐2, the difference between baseline and 24 months was significant in all the subgroups before the age of 4 years. Age was predictive of changes on both scales (P < 0.05), whereas SMN2 copy number and decimal classification were not. Interpretation Our results suggest that some improvement of motor function can be observed even after the first year of treatment. This is more obvious in the infants treated in the first 2 years but some improvement can also be found in older children.

Breaking bad news in an assisted reproductive context can be a frequent occurrence due to low rates of success. Clinicians are often unprepared to manage this kind of communication, as literature on assisted reproductive technology (ART) lacks specific guidelines for managing difficult conversations, unlike in oncology where the six-step (SPIKES) Buckman Protocol was developed. The present study aimed to explore the applicability of the SPIKES Protocol to the ART context through a focus group of ART experts (7 gynecologists; 4 psychologists; 1 biologist; 1 obstetrician). First of all, participants completed the Critical Incidents Report (CIR) to describe the experience of delivering bad news. Thereafter, a focus group with ART experts together with an expert in health communication and a patient was conducted. Group discussion of CIRs was the starting point of the focus group, followed by discussion about the applicability of the SPIKES Protocol to ART. The discussion was audio-taped, transcribed and analyzed with qualitative content analysis. This study found that the SPIKES Protocol fit ART consultations, even if the definition of bad news was found to be more controversial than in oncology, due to the fact that the ability to conceive was closely related to personal identity. The discussion of Buckman’s six-steps pointed out some specificities of the ART context, such as: telephone communication in the setting; the necessity to balance patients’ expectations with the need to be honest; the importance to integrate clinical aspects with psychosocial ones; the need to manage patients’ anger; the importance to help couples accept the clinical situation.

Introduction. In recent decades the literature has paid growing attention to the communicative and relational aspects of the medical consultation, showing a consistent presence – besides contents related to the disease and the patient’s agenda – of friendly conversations or “chitchat”, i.e. interventions related to social, relational and personal aspects made by the physician or by the patient. The aim of the study is to analyze the content, frequency and who between the doctor and the patient introduce the “chitchat” during the check-up visits with HIV+ patients and assess the patient satisfaction at the end of the visit. Methods. 52 visits at the clinic of Infectious Diseases in a hospital in Northern Italy were videotaped and transcribed. All patients filled out a satisfaction questionnaire at the end of the visit. The friendly conversations were extrapolated, and analyzed qualitatively with a content thematic analysis, and quantitatively using descriptive statistics. Results. The following thematic areas were identified: patient’s medical issue not related to HIV; medical condition of a family member or others; labour issues of the patient; patient’s relational/emotional issues; relational/working issues work of others; social conversations; physician’s self-disclosure. “Chitchat” accounted for 26.5% of the time of the visit and in 63% of cases was introduced by doctors. The 91.4% of the patients was highly satisfied. Conclusions. The presence of friendly conversations during the doctor-patient exchanges in the field of HIV infection seems to have a role of consolidation of the therapeutic relationship and seems to reflect an authentic interest of the physician towards the patient as a person.

An increase in alpha cell number in pancreatic islet composition has been described in SMA knockout mice and in patients with type 1 SMA.1 Recent care recommendations suggest that prolonged fasting should be avoided in order to prevent the risk of hypoglycaemia.2 Type 1 children are often underweight, have a reduction of muscle mass and are therefore more likely to develop hypoglycaemia in the setting of a catabolic state.3 While there is a strong agreement on the need to avoid fasting, there is less consensus regarding the appropriate timing, with many experts recommending less than 6 hours.2 We report our experience in 45 consecutive patients with type 1 5q-SMA who had been fasting between 4 and 6 hours. Table 1 Population features: 45 patients with 5q-SMA Hypoglycaemia 17 (38%) No hypoglycaemia 28 (62%) Age (months)  Median 42 21.5 BMI  Median −2.19 −0.20 Classification  SMA 1.1 2 (12%) 4 (14%)  SMA 1.5 11 (65%) 18 (64%)  SMA 1.9 4 (24%) 6 (21%) Respiratory assessment  Tracheostomy (intravenous 24/24 hours) 5 (29%) 6 (21%)  Non-invasive ventilation (NIV) >10 hours 4 (24%) 2 (7%)  NIV <10 hours 8 (47%) 13 (47%)  Spontaneous breathing 0 (0%) 7 (25%) Tube feeding 12 (71%) 11 (39%) BMI, body mass index; SMA, spinal muscular atrophy. BB, RO, DL, CP, VG, DB, MP and EM contributed to the acquisition and analysis of data.

The role of new psychological factors such as psychopathological patterns and defense mechanisms in the care of inflammatory bowel disease (IBD) has been poorly investigated. We aimed to assess the psychological characteristics and defense mechanisms of IBD patients. This was a single-center, observational, cross-sectional study. Consecutive adult IBD patients were enrolled and stratified according to disease activity. Sociodemographic and clinical data were collected, and validated questionnaires (Symptom Checklist-90-R [SCL-90-R]) for psychological distress, Defense Mechanism Inventory (DMI) for psychological defense mechanisms, and Inflammatory Bowel Disease Questionnaire (IBDQ) for quality of life (QoL) were administered. Two hundred one patients were enrolled: 101 in remission and 100 with active disease. The mean score for IBDQ was below the cutoff level (156.8 ± 37.8), with a significantly greater impairment of QoL in subjects with flares (136.5 vs 177.5, P < 0.001). Lower scores were associated with female gender. No patients had psychological scores above the cutoff for normality. Statistically higher SCL-90-R scores were found in active patients for obsessive-compulsive disorder (P = 0.026), depression (P = 0.013), anxiety (P = 0.013), phobic anxiety (P = 0.002), psychoticism (P = 0.007), global severity index (GSI) (P = 0.005) and positive symptom total (PST) (P = 0.001). A significantly increased probability of higher global indexes was associated with Crohn's disease and disease flares. None of the defensive Defense Mechanism Inventory (DMI) styles resulted above the cutoff in our cohort. Further data are needed to demonstrate the potential key role of psychological intervention in the therapeutic strategies utilized for IBD patients, and the identification of specific psychological patterns based on the patients profile is necessary to optimize psychological intervention.

Abstract The possibility to identify patients with spinal muscular atrophy through neonatal screenings has highlighted the need for clinical assessments that may systematically evaluate the possible presence of early neurological signs. The aim of this study was to use the Hammersmith Neonatal Neurological Examination (HNNE) and a module specifically designed for floppy infants to assess the possible variability of neurological findings in infants identified through neonatal screening. The infants included in this study were identified as part of a pilot study exploring neonatal screening in two Italian regions. A neurological examination was performed using the HNNE and an additional module developed for the assessment of floppy infants. Seventeen infants were identified through the screening. One patient had 1 SMN2 copy, 9 had 2 copies, 3 had 3, and 4 had more than 3 copies. Nine of the 17 infants (53%) had completely normal results on both scales, 3 had minimal signs, and the other 5 had more obvious clinical signs. The number of SMN2 copies was related to the presence of abnormal neurological signs (p = 0.036) but two SMN2 copies were associated with variable clinical signs as they were found in some infants with respectively normal examination or obvious severe early signs.Conclusions: Our results suggest that the combination of both scales increases the possibility to detect neonatal neurological signs and to define different early patterns of involvement also identifying paucisymptomatic patients. What is Known:• The use of new therapeutic options in presymptomatic SMA patients leads to a dramatic reduction of the onset and severity of the diesease.• The already existing tools commonly used in Type I SMA (HINE and CHOP-intend) may not be suitable to identify minor neurological signs in the neonatal period.What is New:• Combining the HNNE and the floppy infant module, we were able to identify early neurological signs in SMA infants identified through newborn screening and may help to predict the individual therapeutic outcome of these patients.• Iinfants with 2 SMN2 copies identified through the screening had a more variable neonatal examination compared to those with three or more copies, in agreement with similar findings in older infants.

Mitochondrial fission and fusion are vital dynamic processes for mitochondrial quality control and for the maintenance of cellular respiration; they also play an important role in the formation and maintenance of cells with high energy demand including cardiomyocytes and neurons. The DNM1L (dynamin-1 like) gene encodes for the DRP1 protein, an evolutionary conserved member of the dynamin family that is responsible for the fission of mitochondria; it is ubiquitous but highly expressed in the developing neonatal heart. De novo heterozygous pathogenic variants in the DNM1L gene have been previously reported to be associated with neonatal or infantile-onset encephalopathy characterized by hypotonia, developmental delay and refractory epilepsy. However, cardiac involvement has been previously reported only in one case. Next-Generation Sequencing (NGS) was used to genetically assess a baby girl characterized by developmental delay with spastic–dystonic, tetraparesis and hypertrophic cardiomyopathy of the left ventricle. Histochemical analysis and spectrophotometric determination of electron transport chain were performed to characterize the muscle biopsy; moreover, the morphology of mitochondria and peroxisomes was evaluated in cultured fibroblasts as well. Herein, we expand the phenotype of DNM1L-related disorder, describing the case of a girl with a heterozygous mutation in DNM1L and affected by progressive infantile encephalopathy, with cardiomyopathy and fatal paroxysmal vomiting correlated with bulbar transitory abnormal T2 hyperintensities and diffusion-weighted imaging (DWI) restriction areas, but without epilepsy. In patients with DNM1L mutations, careful evaluation for cardiac involvement is recommended.