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Background: Supporting young ADHD patients in transition to adult services is essential. Yet, the low percentages of successful referrals and the issues reported by patients and clinicians stress the need for further attention to transitioning practices. The present study assessed the transitioning process of Attention-Deficit/Hyperactivity Disorder (ADHD) patients in Child and Adolescent Mental Health Services (CAMHS) and Adult Mental Health Services (AMHS) in the Italian territory. We asked child and adult psychiatrists to report the current state of services and their observations on limitations and possible future matters that must be addressed. Method: Seventy-seven centers (42 CAMHS, 35 AMHS) filled in a web-based survey in which they reported the number of ADHD patients, how many transitioning patients they had within the past year, and how they structured transition. Results: A fragmented picture emerged from the survey. Lack of resources, training, and communication between services hinder the transition process, and many adult patients remain under CAMHS’ care. While some services have a protocol, there is no structured guidance that can help improve integration and continuity of treatment. Conclusion: The observed situation reflects a need for improvement and standard guidelines to enable a successful transition process, considering clinicians' and patients’ necessities.

The Rubinstein–Taybi syndrome (RSTS) is a rare developmental disorder characterized by craniofacial dysmorphisms, broad thumbs and toes, intellectual disability, growth deficiency, and recurrent infections. Mutations in the cyclic adenosine monophosphate response element-binding protein (CREB)-binding protein (CREBBP) or in the E1A-associated protein p300 (EP300) genes have been demonstrated in 55% (RSTS1) and up to 8% of the patients (RSTS2), respectively. Dysfunction of immune response has been reported in a subgroup of individuals with RSTS. Here we characterize two patients carrying the same EP300 variant and distinctive RSTS features (including congenital heart abnormalities, short stature, feeding problems, and gastroesophageal reflux). Whole exome sequencing did not support a dual molecular diagnosis hypothesis. Nonetheless, patients showed distinct clinical manifestations and immunological features. The most severe phenotype was associated with reduced T-cell production and diversity. This latter feature was confirmed in a control group of four RSTS patients.

Background: The aim of this study is to compare the 2021–2022 bronchiolitis season to the four previous years (2017–2018, 2018–2019, 2019–2020, 2020–2021) to see if there was an anticipation of the peak, an overall increase of cases, and an increased need of intensive care. Methods: A retrospective single-centre study in the San Gerardo Hospital Fondazione MBBM, Monza, Italy was performed. Emergency Departments (ED) visits of patients aged < 18 years and ≤ 12 months were analyzed: the incidence of bronchiolitis on total assessments, the urgency level at triage and the hospitalization rate were compared. Data of children admitted to the Pediatric Department due to bronchiolitis were analyzed in terms of need of intensive care, respiratory support (type and duration), length of hospital stay, main etiological agent, patient characteristics. Results: During 2020–2021 (first pandemic period) an important reduction in the ED attendance for bronchiolitis was observed, while in 2021–2022 there was an increase in incidence of bronchiolitis (13% of visits in infants < 1 year) and in the rate of urgent accesses (p = 0.0002), but hospitalization rates did not differ compared to previous years. Furthermore, an anticipated peak in November 2021 was observed. In the 2021–2022 cohort of admitted children to the Pediatric Department, a statistically significative increased need of intensive care unit was detected (Odds Ratio 3.1, 95% CI 1.4–6.8 after adjustment for severity and clinical characteristics). Instead, respiratory support (type and duration) and length of hospital stay did not differ. RSV was the main etiological agent and RSV-bronchiolitis determined a more severe infection (type and duration of breathing support, intensive care need and length of hospital stay). Conclusions: During Sars-CoV-2 lockdowns (2020–2021), there was a dramatic decrease of bronchiolitis and others respiratory infections. In the following season, 2021–2022, an overall increase of cases wit

A wide spectrum of neurodegenerative diseases has been associated with pathogenic variants in the PNPLA6 (patatin-like phospholipase domain-containing protein 6) gene, including spastic paraplegia type 39, Gordon—Holmes, Boucher—Neuhauser, Oliver—Mc Farlane, and Laurence—Moon syndromes. These syndromes present variable and overlapping clinical symptoms, encompassing cerebellar ataxia, hypogonadotropic hypogonadism, chorioretinal dystrophy, spastic paraplegia, muscle wasting, peripheral neuropathy, and cognitive impairment. In the present study, we performed a wide genetic screening in 292 patients presenting with ataxia or spastic paraplegia using a probe-based customized gene panel, covering >200 genes associated with spinocerebellar diseases. We identified six novel and four recurrent PNPLA6 gene variants in eight patients (2.7%). Six patients presented an infantile or juvenile onset (age <18), and two patients had an adult onset. Cerebellar ataxia was observed in seven patients and spastic paraplegia in one patient. Progression of cerebellar symptoms was slow in all patients, who retained ambulation even after a mean disease duration of 15 years. Brain MRI showed cerebellar atrophy in 6/8 patients, more pronounced in superior and dorsal vermis lobules (I to VII). Additional clinical features included hypogonadotropic hypogonadism (5/8), growth hormone deficiency (2/8), peripheral axonal neuropathy (4/8), cognitive impairment (3/8), chorioretinal dystrophy (2/8), and bilateral vestibular areflexia with a reduced visual vestibule-ocular reflex (1/8). In accordance with previous studies, chorioretinal dystrophy was the most frequent presenting symptom in early onset patients, hypogonadotropic hypogonadism in juvenile onset cases, and cerebellar ataxia in adult patients. One patient had an initial clinical presentation compatible with Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS), but no pathological expansions in the RFC1 gene. I

Objectives: The aim of this study was to evaluate access to a pediatric emergency department (PED) in a large hospital, in particular to estimate the prevalence of potentially avoidable accesses and the characteristics of return visits. Methods: Clinical health records from the PED of San Gerardo Hospital, Monza, Italy, were retrospectively reviewed. The study population was composed of subjects younger than 18 years who attended the PED during the period from October 1, 2017, to November 30, 2017. Accesses were defined nonurgent if characterized by white or green triage codes and patient's discharge as the outcome and were defined potentially avoidable if nonurgent and with no diagnostic/therapeutic procedures performed except a visit by the ED pediatrician. Return visits were defined as accesses that occurred within 72 hours of the first index visit. Results: A total of 2064 children and adolescents younger than 18 years had at least 1 ED attendance between October and November 2017, for a total of 2364 accesses. The most frequent diagnoses were upper respiratory tract infections (29.5% of accesses), followed by gastroenteritis (7.0%) and abdominal pain (7.0%). In all, 1810 accesses (88%) were classified as “nonurgent,” and 1228 (60%) potentially avoidable, 373 of which were probably avoidable because they occurred when the primary care physician was available. The number of return visits was 98 (5% of the accesses): 74 were nonurgent, 31 of which potentially avoidable. On 17 occasions, both index and return visits were potentially avoidable. Conclusions: We confirm that most of the accesses to a PED are nonurgent and potentially avoidable. Interventions are needed to improve the appropriateness of use of emergency services.