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Background: Despite evidence showing that the intranasal and sublingual routes are safe and effective in providing analgesia, no data are available about their day-to-day use in the emergency department (ED). The aim of this study was to assess the frequency of the use of the intranasal and sublingual routes, and the clinical characteristics of the patients receiving analgesia through these routes., Methods: A multicentre study was performed in the EDs participating in the Pain in Paediatric Emergency Room research group. It included a survey and a retrospective data collection in which the medical records of all patients who received analgesia from 1 April 2022 to 31 May 2022 were collected., Results: 48 centres (91%) answered the survey. The intranasal and sublingual routes were used in 25 centres (52%). 13 centres (27%) used both routes, 9 centres (19%) used only the sublingual and 3 centres (6%) used only the intranasal route.12 centres (48%) participated in the retrospective study. Data about 3409 patients, median age 9 years (IQR 5-12), were collected. Among them, 337 patients (9.6%) received sublingual analgesia, and 87 patients (2.5%) received intranasal analgesia. The intranasal route was employed for injuries in 79 (90.8%) cases, and fentanyl was the drug delivered in 85 (97.7%) cases. The sublingual route was used mainly for injuries (57.3%), but also for abdominal pain (15.4%), musculoskeletal pain (14.5%) and headache (10.7%). Paracetamol, ketorolac and tramadol were administered through this route., Conclusions: The use of the intranasal and sublingual routes for analgesia in the paediatric ED is still limited., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Gaucher disease (GD) diagnosis can be delayed due to non-specific symptoms and lack of awareness, leading to unnecessary procedures and irreversible complications. GAU-PED study aims to assess GD prevalence in a high-risk pediatric population and the presence, if any, of novel clinical or biochemical markers associated with GD., Materials and Methods: DBS samples were collected and tested for β-glucocerebrosidase enzyme activity for 154 patients selected through the algorithm proposed by Di Rocco et al. Patients showing β-glucocerebrosidase activity below normal values were recalled to confirm the enzyme deficiency with the gold standard essay on cellular homogenate. Patients tested positive at the gold standard analysis were evaluated through GBA1 gene sequencing., Results: 14 out of 154 patients were diagnosed with GD, with a prevalence of 9.09% (5.06-14.78%, CI 95%). Hepatomegaly, thrombocytopenia, anemia, growth delay/deceleration, elevated serum ferritin, elevated Lyso-Gb1 and chitotriosidase were significantly associated with GD., Conclusions: GD prevalence in a pediatric population at high-risk appeared to be higher compared to high-risk adults. Lyso-Gb1 was associated with GD diagnosis. The algorithm proposed by Di Rocco et al. can potentially improve the diagnostic accuracy of pediatric GD, allowing the prompt start of therapy, aiming to reduce irreversible complications., (© 2023. The Author(s).)

Nusinsersen is now available in Italy for all SMA types. We describe the experience with intrathecal treatment with nusinersen in 50 patients with SMA at the NEMO Center (NEuroMuscular Omniservice Clinical Center) in Milan, a neuromuscular patient-centered clinic hosted within Niguarda Hospital, a National Public General Hospital. Our results indicate that the pathway of care described outweighs the burden due to the repeated intrathecal injections. Irrespective of age and severity, the treatment is feasible, accessible, and replicable provided that there is a multidisciplinary team having experience and training in SMA.

Aim: The present study describes a project carried out in the Center for SIDS/ALTE of the Pediatric Clinic of Varese, targeted to deliver and provide parents with a movies on PBLS titled "A Minute for Life". The impact on the parent was evaluated by applying a questionnaire., Methods: The movie "A Minute for Life" was given to 308 parents (122 fathers, mean age 35.2 and 186 mothers, mean age 28.4). All parents completed a questionnaire based on 4 parameters: 1. clarity of the content presented; 2. anxiety felt while watching the movie clip 3. reassurance related to their ability to review other times the movie; 4. the perception of its usefulness., Results: Regarding the clarity of content, the results provide evidence that 231 parents (75% of the sample) rated him "very clear", while 77 subjects (25%) considered it "quite clear". On the possibility of being able to have at home, 277 parents (90% of subjects) believed it would be very reassuring to see it back Home. According to 231 parents (75% of the sample) the vision of the movie does not convey anxiety, while 77 of them (25% of subjects) felt slightly concerned in relation to vision. With regard to the overall assessment of the movie, all parents (308, 100% of the sample) agreed about its extreme usefulness., Conclusion: Our study opens the way for further prospective studies regarding the appropriateness and usefulness of the movie. It's also important to consider the release of the movie to all new parents and the possibility of giving first aid courses open to all those who want to be able to act with promptness and expertise if and when necessary.