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BackgroundPsychological factors have been found to be associated with functional hypothalamic amenorrhea (FHA); however, their role in the onset or persistence of FHA is still understudied. The study aims to assess the associations of psychological factors with the presence vs the absence of FHA. MethodsA systematic literature search has been conducted across the major databases (PubMed, PsycINFO, Scopus, and Embase) to explore the psychological factors associated with FHA. The search was limited to English-written articles published from 2000 onwards. Articles were selected based on stringent inclusion/exclusion criteria. After data extraction, meta-analysis and meta-synthesis were conducted. ResultsOf 349 retrieved articles, eight studies were included. Findings indicate that the main psychological factors associated to FHA seem to be depression and eating attitudes, especially drive for thinness. FHA women present higher levels of anxiety, sleep disorders, dysfunctional attitudes, and alexithymia. The meta-analysis on drive for thinness revealed that the pooled MD across the studies was statistically significant both in the fixed 0.63 (95% CI: 0.31-0.95) and random model 0.70 (95% CI: 0.13-1.26). Likewise, as for depression, the pooled MD across the studies was statistically significant both in the fixed 0.60 (95% CI: 0.36-0.84) and random model 0.61 (95% CI: 0.20-1.01). DiscussionFindings showed the association of psychological factors and FHA and recognized their involvement in the persistence of the disorder. A multidisciplinary approach should involve a collaborative process between gynecologists, clinical psychologists, and psychiatrists, from diagnosis to treatment. Longitudinal studies should be implemented with a comparison/control group or by including clinical psychologists in the psychological assessment and study design.

Background: The performance of upper limb 2.0 (PUL) is widely used to assess upper limb function in DMD patients. The aim of the study was to assess 24 month PUL changes in a large cohort of DMD patients and to establish whether domains changes occur more frequently in specific functional subgroups. Methods: The PUL was performed in 311 patients who had at least one pair of assessments at 24 months, for a total of 808 paired assessments. Ambulant patients were subdivided according to the ability to walk: >350, 250-350, ≤250 meters. Non ambulant patients were subdivided according to the time since they lost ambulation: <1, 1-2, 2-5 or >5 years. Results: At 12 months, the mean PUL 2.0 change on all the paired assessments was -1.30 (-1.51--1.05) for the total score, -0.5 (-0.66--0.39) for the shoulder domain, -0.6 (-0.74--0.5) for the elbow domain and -0.1 (-0.20--0.06) for the distal domain.At 24 months, the mean PUL 2.0 change on all the paired assessments was -2.9 (-3.29--2.60) for the total score, -1.30 (-1.47--1.09) for the shoulder domain, -1.30 (-1.45--1.11) for the elbow domain and -0.4 (-1.48--1.29) for the distal domain.Changes at 12 and 24 months were statistically significant between subgroups with different functional abilities for the total score and each domain (p < 0.001). Conclusion: There were different patterns of changes among the functional subgroups in the individual domains. The time of transition, including the year before and after loss of ambulation, show the peak of negative changes in PUL total scores that reflect not only loss of shoulder but also of elbow activities. These results suggest that patterns of changes should be considered at the time of designing clinical trials.

Background: We report the 4 year follow up in type I patients treated with nusinersen and the changes in motor, respiratory and bulbar function in relation to subtype, age and SMN2 copy number. Methods: The study included SMA 1 patients with at least one assessment after 12, 24 and 48 months from the first dose of nusinersen. The assessments used were Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the Hammersmith Infant Neurological Examination (HINE-2). Results: Forty-eight patients, with age ranging from 7 days and 12 years (mean 3.3, SD 3.6) were included in the study. The CHOP INTEND and HINE-II score significantly increased between baseline and 48 months (p<0.001). When age at starting treatment subgroups (<210 days, <2 years, 2-4 years, 5-11 years, >12 years) were considered, the CHOP INTEND increased significantly in patients younger than 4 years at treatment, while the HINE-2 increased significantly in patients younger than 2 years at treatment. In a mixed model analysis, age, nutritional and respiratory status were predictive of changes on both scales while SMN2 copy number and decimal classification were not. Conclusions: Our results confirm the safety profile previously reported and support the durability of the efficacy of nusinersen at 4 years with an overall stability or mild improvement and no evidence of deterioration over a long period of time.

Introduction: End of treatment is one of the most complex phases of the ART process. In the ART setting, there is no clearly defined biological endpoint; the end of ART treatment occurs or should occur when probabilities of success are so low that it is in the couple’s best interest to stop any further attempt. Patients may experience the end of treatment as an existential failure, as they gain awareness that the desired biological pregnancy will not be achieved. In the doctor-patient relationship, the decision to end treatment is one of the most challenging bad news to break because it drastically and negatively changes patients’ expectation and future perspective. This contribution aims to delineate the end of ART treatment, as health professionals devise it. Methods: A grounded theory approach was used to explore healthcare professionals' perspectives on the end of ART treatment. Data were collected through two focus group interviews with physicians, biologists, and psychologists working in public and private Italian medically assisted procreation centers. The focus group interviews were audiotaped and transcribed verbatim. Content analysis was conducted to identify areas and sub-areas related to the end of ART treatment. Results: A total of 16 health care professionals were involved in the focus groups. The findings provide an illustration of the attributes and components at the end of the ART. The resulting coding system considers seven areas: patients' clinical conditions and probabilities of treatment success; patients' and physicians' roles in decision-making; ethical issues, affective and emotional experiences; physicians' personal attitudes; physician-patient relationship; communication strategies and difficulties. Discussion: The results not only describe the complex process based on expertise and experience leading to the clinical decision to discontinue treatment but also outline the ethical and emotional aspects of this complex phase. Our consideration

X-linked myotubular myopathy (XLMTM) is a severe form of centronuclear myopathy, characterized by generalized weakness and respiratory insufficiency, associated with pathogenic variants in the MTM1 gene. NGS targeted sequencing on the DNA of a three-month-old child affected by XLMTM identified the novel hemizygous MTM1 c.1261-5T>G intronic variant, which interferes with the normal splicing process, generating two different abnormal transcripts simultaneously expressed in the patient's muscular cells. The first aberrant transcript, induced by the activation of a cryptic splice site in intron 11, includes four intronic nucleotides upstream of exon 12, resulting in a shift in the transcript reading frame and introducing a new premature stop codon in the catalytic domain of the protein (p.Arg421SerfsTer7). The second aberrant MTM1 transcript, due to the lack of recognition of the 3 ' acceptor splice site of intron 11 from the spliceosome complex, leads to the complete skipping of exon 12. We expanded the genotypic spectrum of XLMTM underlying the importance of intron-exons boundaries sequencing in male patients affected by XLMTM.

In the context of Assisted Reproductive Technology (ART), the decision to end treatment should occur after a series of failed attempts and when the chances for a successful outcome are so low that it is in the patient’s best interest to stop any further attempt at it. Since there is not a defined biological endpoint, the decision is very complex and involves emotional and ethical dimensions. Patients are overwhelmed by all sort of emotions related to the acknowledgement that the pregnancy they hoped for might, eventually, never happen; at the same time, physicians may experience intense inner emotions (e.g., frustration, denial). The ethical aspect concerning the decision to end unsuccessful ART treatment gives rise to a dilemma between beneficence and patient autonomy and about equity. In these complex circumstances, the risk of over-persistence is significantly high, where the concept of “overpersistence” can be described as the circumstance where doctors and patients keep on insisting to continue ART treatment even when chances for success are very low or any at all. The authors here discussed the possibility that a more active role of clinicians in deciding when patients should stop treatment, a model that in oncology is called “palliative paternalism”, could be introduced in the ART context. Future research will be needed to further explore the issue in order to offer a greater support to patients undergoing several failed cycles of ART.

Introduction The aim of the study was to longitudinally assess swallowing abilities in nusinersen-treated patients with type 1 spinal muscular atrophy. Methods Twenty infants with type 1 SMA (11 female and 9 male) treated with nusinersen between 3 weeks and 15 months of age, were assessed using the Oral and Swallowing Abilities Tool (OrSAT). The duration of the follow-up after treatment ranged between 12 months and 62 months. Results Twelve of the 20 infants had normal swallowing and there was no need for tube feeding at the time treatment started. Ten of the 12 had consistently normal swallowing with no need for tube feeding on follow-up. The other two required tube feeding but they regained the ability to eat some food by mouth. The remaining 8 infants already had tube feeding inserted at the time treatment started: 4 of them also had tracheostomy and they showed no changes on the OrSAT Scale. The other 4 who had tube feeding but no tracheostomy had partial functional improvement. Conclusion Our results suggest that the degree of functional impairment at the time treatment is started can help to predict the progression of swallowing abilities. The use of a structured assessment also helped to detect partial improvements.New interventions have radically altered the natural history of Spinal Muscular Atrophy. In this report, oral and swallowing outcomes are report following interventions, widening our understanding of the potential benefits of early treatment.

The current CoViD-19 pandemic threatens both physical and psychological well-being. According to the bio-psycho-social model, Units of Clinical Psychology of the Hospitals in Lombardy (Italy) reacted to this risk, offering diversified interventions, described in the present contribution. The medical staff operated on the front line during the emergency: psychologists addressed their needs through individual clinical work, sessions of decompression and debriefing. At the same time, Units of Clinical Psychology supported the hospitalized positive patients by conducting psychological consultations, either on the ward or through devices. Moreover, some hospitals activated helplines to address the needs of the population and family members, who were particularly vulnerable during the relative's illness and after the mourning.

Although most studies investigated the impact of infertility and its treatment on the couple, a small body of evidence suggested that infertility care providers may experience different sources of stress related for instance to excessive workload, the complexity of the technique, and relational difficulties with patients. The current study aimed at providing further insight into the understanding of the subjective experience of infertility care providers by highlighting their feelings and emotions, personal meanings, challenges, and opportunities. Following the methodological guidelines of Interpretative Phenomenological Analysis, we conducted individual semi-structured interviews with 23 members of two different fertility units. Interviews were audiotaped and transcribed verbatim. Textual analysis was then conducted to identify emerging dominant themes and subthemes. Three main themes were extracted: (i) dealing with infertile patients and their specificities, (ii) performing assisted reproductive technology (ART), (iii) being part of a team. These themes related to participants experiencing: (i) difficulties in establishing an empathic connection and communicating with couples, such that women were sometimes perceived as “particular patients” and men as poorly involved in the process; (ii) difficulties in dealing with a complex procedure in which errors are not allowed (as reported by embryologists), with a growing number of women aged > 40 seeking assisted reproduction, despite the risks for their health; (iii) being part of a team as a resource, although the huge amount of time spent together can involve conflicts and organizational problems. These findings suggested that patients’ overpersistence (rather than just dropout) represents an important source of stress for infertility care providers. At the same time, the concept of particular or difficult patient derives from the combination of multiple factors, including providers’ own history and subjective exp