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We read with interest the recent study by Zaidman et al [...]

Background: Spinal Muscular Atrophy type 1 (SMA type 1) is a genetic neuromuscular disease that typically presents before 6 months of age and is characterized by profound hypotonia, progressive muscle weakness, and early involvement of respiratory and bulbar musculature. Swallowing impairment (dysphagia) is a hallmark of SMA type 1 and significantly contributes to morbidity. Despite the documented benefits of disease-modifying therapies (DMTs) in terms of enhanced survival and motor outcomes, their impact on swallowing remains understudied. Aim: This study aims to longitudinally characterize swallowing function in children with SMA type 1 treated with DMTs, while contextualizing these findings in relation to the patients’ current motor abilities and cognitive performance. Materials and Methods: A single-center, longitudinal, observational study was conducted at IRCCS Besta, Milan, Italy, from 2021 to 2025. Swallowing function was evaluated using four validated scales (MAS, OrSAT, FILS, and p-FOIS), while motor and cognitive functions were assessed using CHOP-INTEND and age-appropriate cognitive tests (DQ/IQ). Patients were stratified by baseline swallowing status, pharmacological therapy, and age at DMT administration. Non-parametric statistical tests were applied. Results: No statistically significant changes in swallowing function were observed over one year in the overall cohort or its subgroups, despite significant improvements in motor function. MAS/e, FILS, and p-FOIS showed moderate associations with CHOP-INTEND and DQ/IQ scores. Conclusions: Swallowing function in children with SMA type 1 remained largely stable, while motor function significantly improved over one year, regardless of baseline swallowing status, DMT type, and age at administration. These findings underscore the need for standardized, longitudinal assessments of swallowing, motor, and cognitive functions in the management of SMA type 1.

Objective During the first months of 2020, the coronavirus disease of 2019 (COVID-19) spread rapidly and soon reached a pandemic level. With the increasing number of hospitalizations, medical and nursing personnel resources were soon inadequate. As a consequence, medical volunteers became a key human resource and young medical residents in any specialty were hired on a voluntary basis to contribute to take care of patients with COVID-19. This study reports on the lived experience of residents in child neuropsychiatry who volunteered in Italian hotspot COVID-19-designated hospitals during the epidemic outbreak. Methods A phenomenological, qualitative approach using semi-structured interviews with open-ended questions was used to obtain in-depth narratives of the experience of residents in child neuropsychiatry volunteering in North Italy COVID-19-designated hospitals . All residents ( n = 8) participated in the study. Interviews were conducted by an expert researcher trained in qualitative methods. Data analysis was performed by independent coders. Results Five core themes could be identified from the interviews: acting as mediators on two fronts, facing the shock of COVID-19 reality, capitalizing from specialty education, growing as persons and professionals, and humanizing medical care. Conclusions This study is unique in providing an in-depth understanding of the experience of young residents in child neuropsychiatry volunteering in general hospitals during the COVID-19 pandemic in Northern Italy. The findings suggest that this experience may be highly beneficial for both the residents and the hospital quality of care. Insights for an accurate planning of residents’ engagement in future healthcare emergencies are provided.

The aim of this study was to establish the possible effect of age, corticosteroid treatment and brain dystrophin involvement on motor function in young boys affected by Duchenne Muscular Dystrophy who were assessed using the North Star Ambulatory Assessment between the age of 4 and 7 years. The study includes 951 North Star assessments from 226 patients. Patients were subdivided according to age, to the site of mutation and therefore to the involvement of different brain dystrophin isoforms and to corticosteroids duration. There was a difference in the maximum North Star score achieved among patients with different brain dystrophin isoforms (p = 0.007). Patients with the involvement of Dp427, Dp140 and Dp71, had lower maximum NSAA scores when compared to those with involvement of Dp427 and Dp140 or of Dp427 only. The difference in the age when the maximum score was achieved in the different subgroups did not reach statistical significance. Using a linear regression model on all assessments we found that each of the three variables, age, site of mutation and corticosteroid treatment had an influence on the NSAA values and their progression over time. A second analysis, looking at 12-month changes showed that within this time interval the magnitude of changes was related to corticosteroid treatment but not to site of mutation. Our findings suggest that each of the considered variables appear to play a role in the progression of North Star scores in patients between the age of 4 and 7 years and that these should be carefully considered in the trial design of boys in this age range.

Background: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare, genetically determined neurological disorder, for which Ketogenic Diet (KD) represents the gold standard life-long treatment. The aim of this study is to investigate health related quality of life in a well characterized cohort of patients affected by GLUT1DS treated with KD, evaluating factors that can influence patients’ and parents’ quality of life perception. Methods: This is a double center exploratory research study. A postal survey with auto-administrable questionnaires was conducted among 17 subjects (aged 3–22 years) with diagnosis of GLUT1DS, receiving a stable KD treatment for more than 1 year. The Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales was adopted. Clinical variables analyzed in relation to quality of life were frequency of epileptic seizures and movement disorder since KD introduction, presence of intellectual disability (ID), and KD ratio. Results: Quality of life global scores were impaired both in parents’ and children’s perspectives, with a significant concordance. Taking into consideration subscales, the average was 64.17 (range 10–100) for physical functioning, 74.23 (range 30–100) for emotional functioning, 62.64 (range 10–100) for social functioning, and 56 (range 15–92) for school functioning. Conclusions: In patients with GLUT1DS the quality of life perception is comparable to that of other patients with chronic disease. In our sample, the presence of movement disorder seems to be a crucial element in quality of life perception.

Onasemnogene abeparvovec (OA) is an AAV9-based gene therapy for spinal muscular atrophy type I (SMA I). Real-world outcomes show increased response variability compared to clinical trials, and follow-up data beyond 12-18 months are limited. The aim of this 24-month prospective observational study is to comprehensively describe the clinical outcomes of an Italian cohort of SMA I patients treated with OA. Based on recent literature, patients' treatment status was categorized as: monotherapy (OA only), bridge therapy (transition to OA within 3 months of starting nusinersen or risdiplam), or switch therapy (transition to OA after > 3 months of 1st treatment). Linear mixed-effects models examined predictors of improvement (CHOP-INTEND), adjusting for baseline motor function, SMN2 copy number, age, and prior treatment. Descriptive analyses were used to show changes in motor, respiratory, and nutritional milestones. The cohort included 64 patients: 27 monotherapy, 9 bridge, and 28 switch. All patients showed significant improvement over 24 months (β = 20.40 points/year, p < 0.001). Patients who switched showed slower improvement (β = -3.76, p = 0.038) compared to monotherapy, while those who bridged showed no difference. Older age at treatment was associated with slower improvement (β = -1.48 points/year per month, p = 0.002). Of 49 non-sitters at baseline, 39 (80%) achieved sitting and 5 (10%) achieved walking. No new safety signals emerged in the second year of follow-up. Age and baseline motor functional status significantly influence outcomes; however, substantial confounding, particularly the initial treatment, limits the ability to isolate individual effects. Longer follow-up is essential for evaluating therapeutic responses in heterogeneous SMA I populations.

Background: Sleep disorders have been poorly described in congenital (CDM) and childhood (ChDM) myotonic dystrophy despite being highly burdensome. The aims of this study were to explore sleep disorders in a cohort of Italian CDM and ChDM and to assess their association with motor and respiratory function and disease-specific cognitive and behavioral assessments. Methods: This was an observational multicenter study. Reported sleep quality was assessed using the Pediatric Daytime Sleepiness Scale (PDSS) and Pediatric Sleep Questionnaire (PSQ). Sleep quality was correlated to motor function (6 min walk test, 6MWT and grip strength; pulmonary function (predicted Forced Vital Capacity%, FVC% pred.); executive function assessed by BRIEF-2; autism traits assessed by Autism Spectrum Screening Questionnaire (ASSQ) and Repetitive Behavior Scale-revised (RBS-R); Quality of life (PedsQL) and disease burden (Congenital Childhood Myotonic Dystrophy Health Index, CCMDHI). Results: Forty-six patients were included, 33 CDM and 13 ChDM, at a median age of 10.4 and 15.1 years. Daytime sleepiness and disrupted sleep were reported by 30% children, in both subgroups of CDM and ChDM. Daytime sleepiness correlated with autism traits in CDM (p < 0.05). Disrupted sleep correlated with poorer executive function (p = 0.04) and higher disease burden (p = 0.03). Conclusions: Sleep issues are a feature of both CDM and ChDM. They correlate with behavioral issues and impact on disease burden.

BackgroundICD in primary prevention reduced mortality in patients with heart failure (HF); however, in about 80% of the ICD recipients an event requiring a device intervention will never occur. Thus, a reliable screening test included in a multiparametric approach to appropriately select patients to ICD implantation is increasingly required. Aim of the work was to assess if the Iodine-123 Meta-Iodobenzylguanidine scintigraphy (123I-mIBG) could be useful to identify patients with HF who would not benefit from the ICD implantation because at low risk of arrhythmias.Methods and resultsThis is a retrospective multicentre study on patients undergoing 123I-mIBG from February 2012 to December 2015. Inclusion criteria where: age ≥ 18 years old, LVEF ≤ 35% with idiopathic or ischemic heart disease, no previous malignant ventricular arrhythmias. Patients were divided in two groups based on of late H/M < or ≥ 1.60 on 123I-mIBG. Primary end-point was occurrence of malignant arrhythmias. Secondary end-point was occurrence of cardiac death and hospitalization for worsening HF. MACE were mortality and malignant arrhythmias. Eighty-one patients were enrolled (mean age: 69 years). On 123I-mIBG, 54 patients had late H/M < 1.6 and 27 patients had late H/M ≥ 1.60. After a mean follow-up of 13.3 (± 9.7) months, the primary end-point occurred in 13 patients out of 81. No arrhythmias occurred in patients with H/M late ≥ 1.6. Nineteen patients out of 20 with MACE showed an H/M late < 1.6. Death in group with H/M ≥ 1.6 occurred for worsening HF. A late H/M ≥ 1.60 showed a very high NPV for arrhythmia (100%) and for death (96.3%).Conclusion123I-mIBG imaging has the capability to identify patients at low risk of events.

Background. To overcome some of the limitations of conventional microbiologic techniques, polymerase chain reaction (PCR)-based assays are proposed as useful tools for the diagnosis of visceral leishmaniasis. Patients and methods. A comparative study using conventional microbiologic techniques (i.e., serologic testing, microscopic examination, and culture) and a Leishmania species-specific PCR assay, using peripheral blood and bone marrow aspirate samples as templates, was conducted during an 8-year period. The study cohort consisted of 594 Italian immunocompetent (adult and pediatric) and immunocompromised (adult) patients experiencing febrile syndromes associated with hematologic alterations and/or hepatosplenomegaly. Identification of the infecting protozoa at the species level was directly obtained by PCR of peripheral blood samples, followed by restriction fragment-length polymorphism analysis of the amplified products, and the results were compared with those of isoenzyme typing of Leishmania species strains from patients, which were isolated in vitro. Results. Sixty-eight patients (11.4%) had a confirmed diagnosis of visceral leishmaniasis. Eleven cases were observed in human immunodeficiency virus (HIV)-uninfected adults, 20 cases were observed in HIV-infected adults, and the remaining 37 cases were diagnosed in HIV-uninfected children. In the diagnosis of primary visceral leishmaniasis, the sensitivities of the Leishmania species-specific PCR were 95.7% for bone marrow aspirate samples and 98.5% for peripheral blood samples versus sensitivities of 76.2%, 85.5%, and 90.2% for bone marrow aspirate isolation, serologic testing, and microscopic examination of bone marrow biopsy specimens, respectively. None of 229 healthy blood donors or 25 patients with imported malaria who were used as negative control subjects had PCR results positive for Leishmania species in peripheral blood samples (i.e., specificity of Leishmania species-specific PCR, 100%). PCR and restriction fragment-length polymorphism analysis for Leishmania species identification revealed 100% concordance with isoenzyme typing in the 19 patients for whom the latter data were available. Conclusions. PCR assay is a highly sensitive and specific tool for the diagnosis of visceral leishmaniasis in both immunocompetent and immunocompromised patients and can be reliably used for rapid parasite identification at the species level.

Pheochromocytoma is a rare adrel tumor characterized by the secretion of catecholamines and vasoactive peptides. It can cause a catecholaminergic storm and lead to acute corory syndromes. We present the case of a 53-year-old man, without any medical history, who arrived to the hospital following a spil trauma due a fall. He presents back and retrosterl pain, with a clinical status of acute pulmory edema, sinus tachycardia with left bundle branch block, left ventricular apical ballooning with depressed systolic function. Blood tests show a very important increase of Troponin and transamises. A contrast chest-abdomen CT highlighted a right adrel solid mass, with a diameter of 78mm, partial capsular laceration, compression of the inferior ve cava and the hepatic parenchyma. The clinical condition of the patient rapidly worsens from a respiratory and hemodymic point of view, with cardiogenic shock, anuria and sepsis, refractory to all the medical treatments, until the patient died. The autopsy confirmed that the abdomil mass was a pheochromocytoma, broken after the trauma suffered. The resulting catecholaminergic storm caused a myocardial ischemia with Takotsubo syndrome, with cardiogenic shock. This unfortute case confirms the pheochromocytoma as important risk factor for the onset of Takotsubo syndrome, and the how dramatic and severe a catecholaminergic storm can be.