European Journal of Pediatrics最新文献

{"title":"Ceasing or gradually reducing incubator humidity after 7 days for extremely preterm infants: a randomised clinical trial.","authors":"Gillion Noreiks, Deanne August, Melissa Lai, Mark W Davies","doi":"10.1007/s00431-024-05893-w","DOIUrl":"10.1007/s00431-024-05893-w","url":null,"abstract":"<p><p>The purpose of this study is to compare the effects of two different ways of stopping incubator humidification on episodes of hypothermia, hyperthermia, hyponatraemia, hypernatraemia, or skin injury. The design is a single site, two-armed, parallel, randomised, clinical trial conducted between April 2019 and March 2022. The setting was a quaternary referral and teaching hospital in Queensland, Australia. There were 140 extremely preterm infants, born < 28 weeks gestational age (GA). Intervention groups were (1) cease humidity: incubator humidification turned from 80% to off at 00.01am on day 8 of life (n = 70); or (2) gradually reduce humidity: incubator humidification reduced by 5% at 00:01 of each day from day 8 until ceased on day 14 (n = 70). The primary outcome was episodes of temperature instability: defined as either hypothermia < 36.5 °C or hyperthermia > 37.5 °C. Secondary outcomes included episodes of hyponatraemia: hypernatraemia or skin injury. One hundred forty infants were enrolled, 70 in each group. No statistically significant differences for any outcomes. Hyperthermia: 77% (n = 54) in the cease group and 73% (n = 51) in the gradual reduction group (P = 0.70). Hypothermia: 53% (n = 37) in the cease group and 37% (n = 26) in the gradual reduction group (P = 0.09). The number of hyponatraemic events was similar for both groups (P = 0.73), as for hypernatraemic events (P = 0.3). Skin injury in week 2 of life: 63% in the cease group and 67% in the gradual reduction group (P = 0.72).</p><p><strong>Conclusions: </strong>Ceasing or gradually reducing incubator humidification after day 7 of life had no effect on the number of episodes of hypothermia or hyperthermia in this cohort of extremely preterm infants (EPTI). There was also no effect on the number of episodes of hyponatraemia or hypernatraemia.</p><p><strong>Trial registration: </strong>ANZCTR.org.au (Australia New Zealand Clinical Trials Registry). ACTRN 1261 9000 266167 Registered 21/2/2019.</p><p><strong>What is known: </strong>• Incubator humidification is a widely accepted and routine practice in the management of EPTI as it influences transepidermal water loss (TEWL) and supports thermoregulation. However, weaning practices remain varied and inconsistent across the globe. • There remains a paucity of data to inform specific evidenced-based humidification practices.</p><p><strong>What is new: </strong>• Ceasing or gradually reducing incubator humidification after 7 days had no effect on temperature stability, serum sodium levels, or frequency of skin injury in this cohort of EPTI between day 8 and day 14. • There is no apparent benefit in prolonging incubator humidity beyond day 7 of life in these EPTI.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"66"},"PeriodicalIF":3.0,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142784387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Health problems in children with profound intellectual and multiple disabilities: a scoping review.","authors":"Lian M Zandbelt, Esther J Bakker-van Gijssel, Catelijne H Coppens, Jos M T Draaisma, Joyce M Geelen","doi":"10.1007/s00431-024-05876-x","DOIUrl":"10.1007/s00431-024-05876-x","url":null,"abstract":"<p><p>This study aims to investigate and categorize health problems in children with profound intellectual and multiple disabilities (PIMD). We conducted a scoping review in five electronic databases (PubMed, Embase, Medline, PsychInfo, and Web of Science), including peer-reviewed studies that describe health problems in children with PIMD. Articles on PIMD were included when mentioning children with severe or profound intellectual disability (IQ/DQ < 35 or developmental age < 24 months) AND severe/profound motor impairment (GMFCS IV/V, non-ambulatory/not walking without support or gross motor function measure (GMFM-66) score < 40). Health problems were divided into 11 different categories based on literature and the experiences of the authors. Both health problems reported by caregivers and diagnosed by health professionals were included. A data extraction tool was developed using the JBI checklist recommendations. The review included 22 studies, with a total of 894 patients across all the articles. The most reported health problems in children with PIMD were epilepsy, respiratory infections, feeding difficulties, GERD, scoliosis, and visual impairment. There was no uniformity in the definition and terminology of PIMD.</p><p><strong>Conclusion: </strong>The studies in this review covered a wide range of health problems, with only a few focusing on the entire range. Given the lack of knowledge about children with PIMD, further research is required on the presence of health problems, the age of onset, and appropriate treatments. Awareness, early detection, and treatment of the health problems could optimize the medical care and quality of life of children with PIMD.</p><p><strong>What is known: </strong>• Children with profound intellectual and multiple disabilities (PIMD) have severe intellectual and motor disabilities and various comorbidities. • Children often visit the hospital and provided care is complex and fragmented.</p><p><strong>What is new: </strong>• Children with PIMD develop a wide range of health problems; most reported are epilepsy, respiratory infections, and feeding difficulties. • Little is known about treatment of health problems in children with PIMD.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"67"},"PeriodicalIF":3.0,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11624250/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142784510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Age- and sex-specific reference percentile curves for accelerometry-measured physical activity in healthy European children and adolescents.","authors":"Mark-Jan Ploegstra, Annika Swenne, Christoph Buck, Luis A Moreno, Lauren Lissner, Fabio Lauria, Stefaan de Henauw, Dénes Molnár, Michael Tornaritis, Kenn Konstabel, Mark Rayson, Yannis Pitsiladis, Yannis Manios, Laurent Béghin, Kurt Widhalm, Angela Polito, Kathrin Sinningen, Anthony Kafatos, Sonia Gomez-Martinez, Marcela González-Gross, José Antonio Casajús, Artur Mazur, Francisco B Ortega, Wolfgang Ahrens, Rolf M F Berger, Timm Intemann","doi":"10.1007/s00431-024-05902-y","DOIUrl":"https://doi.org/10.1007/s00431-024-05902-y","url":null,"abstract":"<p><p>Physical activity measured by accelerometry (PA-accelerometry) is used as an indicator of physical capacity in chronic diseases. Currently, only fragmented age ranges of reference percentile curves are available for European children and adolescents. This study aimed to provide age- and sex-specific percentiles for physical activity measured by hip-worn accelerometry derived throughout the full age range of European children and adolescents. Individual-level population-based PA data measured by accelerometry from HELENA and IDEFICS/I.Family studies were pooled and harmonized. Together these studies involved children and adolescents aged 2-18 years from 12 European countries. Primary outcomes included averaged counts per minute (CPM), sedentary time (SED), light PA (LPA) and moderate-to-vigorous PA (MVPA). Generalized Additive Models for Location, Scale and Shape were used to derive age- and sex-specific reference percentile curves for these outcomes. The combined cohort consisted of 11,645 children and adolescents aged 2 to 18 years who contributed 14,610 valid accelerometry recordings, with a median accelerometer wear time of 6 days. This dataset allowed for the construction of age- and sex-specific reference percentile curves for CPM, SED, LPA, and MVPA. The curves demonstrated varying trends and variability across age groups.</p><p><strong>Conclusions: </strong>This study provides age- and sex-specific percentile curves for PA-accelerometry in European children and adolescents, addressing a current gap in the availability of full-age range reference data. These curves based on healthy children and adolescents can be used by clinicians, researchers, and policymakers to interpret PA-accelerometry measurements, track physical activity trends, and evaluate treatment responses and health interventions.</p><p><strong>What is known: </strong>• Daily physical activity (PA) is considered an important measure in various paediatric conditions. Existing reference data for PA in European children based on hip-worn accelerometers are limited to specific age ranges, and comprehensive data covering the full age range are lacking.</p><p><strong>What is new: </strong>• The study provides age- and sex-specific reference curves for PA derived by hip-worn accelerometers in European children and adolescents. These curves aid clinicians, researchers, and policymakers in interpreting PA measurements and tracking trends over time in European children.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"65"},"PeriodicalIF":3.0,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142783709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Health and socio-demographic background of Ukrainian minors and their families in Germany - challenges for refugee medicine : A cross-sectional study from the German Network University Medicine (NUM).","authors":"Anna Teresa Hoffmann, Robin Kobbe, Robin Denz, Christoph Maier, Nicole Toepfner, Nina Timmesfeld, Astrid Petersmann, Katharina Giesbrecht, Olga Hovardovska, Jörg Janne Vehreschild, Margarete Scherer, Susana M Nunes de Miranda, Lazar Mitrov, Anette Friedrichs, Amke Caliebe, Katarzyna Emilia Skipiol, Sarah Holzwarth, Yadwinder Kaur, Anne Schlegtendal, Leonhard Hojenski, Anne-Kathrin Ruß, Maria J G T Vehreschild, Folke Brinkmann","doi":"10.1007/s00431-024-05847-2","DOIUrl":"10.1007/s00431-024-05847-2","url":null,"abstract":"<p><p>In 2022, over 1,000,000 people from Ukraine fled to Germany, mostly women and children. The aim of this study was to determine health status and socio-demographic background of Ukrainian refugee minors in Germany and to compare that to German minors. In this study, Ukrainian refugees of all ages, who voluntarily made contact with the study centres via flyers or refugee shelters, were interviewed with the help of trained interpreters from 09-12/2022. We assessed data from minors and their families on socio-economic status, general health perception, current and pre-existing infectious and non-contagious diseases, and vaccination status. The data for the minors were collected by interviewing the accompanying adults. In addition, a physical examination and serological screening for infectious and vaccine-preventable diseases were performed. Overall, 392 minors and accompanying adults (358) were included. Minors' general and mental health were reported as \"at least good\" in 83% (316) and 80% (304), respectively. In 16% (63), infectious or other underlying diseases were recorded. Tuberculosis infections (7, 1.8%) and hepatitis C (2, 0.5%) were found through the serological tests. HIV could only be detected in one previously known case. Self-reported vaccinations against measles and varicella, for example, did not match serological findings (protection against measles 304; 84%; varicella 230; 64%).</p><p><strong>Conclusion: </strong>Accompanying adults often rate the general health and well-being of Ukrainian refugee minors as rather poor. Frequently, self-reported vaccinations and preexisting diseases did not match serology results; therefore, Ukrainian refugee minors without formal vaccination certificate should be offered all recommended vaccinations and be generously screened for hepatitis B, C and HIV in addition to tuberculosis.</p><p><strong>What is known: </strong>• Infectious diseases (TB, hepatitis B/C, HIV) are more common among Ukrainian minors and vaccine hesitancy is more widespread than in many host countries and require appropriate medical care. • Displacement and war worsen medical care and have negative impact on mental health..</p><p><strong>What is new: </strong>• Although intrafamilial spread of infectious diseases was rare (in this cohort), perceived general health of Ukrainian minors is rather poor. • Semi-structured interviews-even with interpreters-are often insufficient to collect valid medical information.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"64"},"PeriodicalIF":3.0,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11621194/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142784478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Headaches and adolescents: why so many failures in their management.","authors":"Giovanni Cucchiaro, William Frye","doi":"10.1007/s00431-024-05834-7","DOIUrl":"10.1007/s00431-024-05834-7","url":null,"abstract":"<p><p>The management of headaches in children and adolescents is still a challenge, with patients experiencing pain for years and polypharmacy. We reviewed the medical history of 31 patients referred to our pain clinic for chronic headaches between April 2023 and April 2024. There were more female than male patients (73%). Patients have been reporting headaches for 52 ± 44 months on average. Twenty-nine patients (94%) were experiencing different types of pain besides headaches. The most common medication prescribed in this group of patients was topiramate (70%), followed by tricyclic antidepressants (35%) and triptans (21%). Patients had been prescribed and tried, on average, 4.5 ± 2 (range 1-10) different medications to manage headaches and concomitant psychiatric disorders. Twenty-two patients (71%) had been diagnosed with a psychiatric disorder, including depression, anxiety, and PTSD, and 16% had a history of attempted suicide/self-harm. Fourteen of them (45%) had been prescribed antidepressants or benzodiazepines. They had been prescribed, on average, 2 ± 1 (range 1-4) psychiatric stabilizer medications. We agreed with the referral diagnosis in 39% of the patients. We attributed the headaches to more complex chronic pain conditions, including fibromyalgia (15%) and AMPS (15%), autism with sensory integration problems (9%), and major depression (9%). Patients had seen an average of 3 ± 1 (range 1-5) different specialists; none consulted a pain specialist. Patients underwent between 0 (12%) and four tests (6%), including MRI (52%) and CT of the brain (8%). These neuroimaging studies did not demonstrate any brain pathology. We prescribed new medications and treatments, including nerve blocks, in 19 (61%) patients. In 47% of the cases, patients reported improved headaches, while 22% did not feel our recommendations were effective. Twenty-one percent of patients never came back to the clinic for a follow-up. Significant catastrophizing was present in 57% of the patients; 52% of patients had mild to severe anxiety, and 57% had symptoms of depressive disorder.</p><p><strong>Conclusions: </strong>Headaches are often the manifestation of more complex pain syndromes that require a more holistic approach, different from conventional pharmacological management.</p><p><strong>What is known: </strong>• Headache is one of the most disabling diseases. • Prevalence of headaches in hildrens and adolescents can be as high as 58%.</p><p><strong>What is new: </strong>• Conventional pharmacological management often fails to help young patients. • A relationship between chronic headaches and psychopathology should be investigated in these young patients.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"61"},"PeriodicalIF":3.0,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11614951/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142767243","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Proxy-reported health-related quality of life of children with systemic lupus erythematosus and well-being of caregivers: a cross-sectional survey among caregivers in China.","authors":"Ling Fei, Yiheng Wu, Lejing Guan, Yifei Shao, Fengting Li, Limin Yu, Zhirou Liu, Abdul Rafay, Lizhen Ye, Meiping Lu, Guannan Bai","doi":"10.1007/s00431-024-05899-4","DOIUrl":"https://doi.org/10.1007/s00431-024-05899-4","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) in children is a severe chronic illness. We aimed to assess the proxy-reported health-related quality of life (HRQoL) of children with SLE and the well-being of their caregivers. In total, 173 caregivers whose children were diagnosed with SLE were recruited from a tertiary children's hospital. The proxy-reported Pediatric Quality of Life Instrument™ Version 4.0 Generic Core Module (PedsQL™ 4.0 GCM) was used to measure the HRQoL of children, and the 5-item World Health Organization Well-Being Index (WHO-5) was applied to measure caregivers' well-being. T-tests and one-way ANOVA assessed differences in scale scores and total score of PedsQL^TM 4.0 GCM. Effect sizes were calculated for clinical relevance. Multivariate linear regression analysis was used to identify the factors associated with children's HRQoL. Pearson correlation analysis was utilized to assess the correlation between children's HRQoL and the well-being of their caregivers. Children with SLE were reported by their caregivers to have lower scores in physical functioning, emotional functioning, school functioning, psychosocial health summary score, and total score of PedsQL™ 4.0 GCM compared to healthy children. The multivariate linear regression analysis showed parental employment status, perceived financial burden, and changes in body image were significantly associated with the relatively low HRQoL of children (p values < 0.05). A total of 30.6% of caregivers had symptoms of depression, and 10.4% had symptoms of major depression, as indicated by the score of WHO-5. Scale scores and total score of PedsQL™ 4.0 GCM were significantly correlated with the score of WHO-5 (p values < 0.05).</p><p><strong>Conclusion: </strong>This study comprehensively analyzes proxy-reported HRQoL of SLE children in China and identifies multiple associated factors. The caregiver's well-being was correlated to the children's HRQoL. We emphasize the necessity for comprehensive support for children with SLE, their caregivers, and extended family members.</p><p><strong>What is known: </strong>• Systemic lupus erythematosus (SLE) may impact the health-related quality of life for both the affected children and their families. • Most of such studies were conducted in developed countries.</p><p><strong>What is new: </strong>• This study provided comprehensive data on health-related quality of life of SLE children and wellbeing of their caregivers in China.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"62"},"PeriodicalIF":3.0,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142767378","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of the COVID-19 lockdown period on hospital admissions for paediatric accidents: a French nationwide study.","authors":"Morgan Recher, Soxna F K Fall, Marguerite Lockhart-Bouron, Laure Lacan, Didier Theis, Stéphane Leteurtre, Amélie Bruandet","doi":"10.1007/s00431-024-05900-0","DOIUrl":"10.1007/s00431-024-05900-0","url":null,"abstract":"<p><p>During the COVID-19 pandemic, lockdown posed a number of unprecedented problems. Accidents to children are a major public health concern. This study sought to determine the impact of France's 2020 COVID-19 lockdown on hospital admissions for paediatric accidents. This study was a retrospective cohort analysis of data from the French national inpatient database. Children admitted to a French hospital for an accident from January to July 2020 and 2019 were included. The number of admissions for accidents between January and July in 2020 (the study period) vs. the same period (the control period) in 2019 was recorded. Hospital admission rate ratios (HRRs) comparing 2020 with 2019 were calculated for three periods in 2020 and 2019: before lockdown (P1, January 1 to March 15), during lockdown (P2, March 16 to May 10), and after lockdown (P3, May 11 to July 31). A total of 72,089 children were admitted to hospital for accidents between January and July 2020 (mean (SD) age, 8.7 (5.8)), and 84,961 between January and July 2019 (mean (SD) age, 9.2 (5.7)). A total of 12,864 children (18%) were admitted during the lockdown period (P2) in 2020, and 23,098 (27%) during the equivalent period in 2019 (HRR, 0.56; 95% confidence interval (CI), 0.55-0.57; p < .001). There were significantly fewer admissions for accidents in 2020 than in 2019; the HRR was 0.97 (95% CI, 0.96-0.99; p = .003) for P1 and 0.95 (95% CI, 0.93-0.96; p < .001) for P3. During the 2020 lockdown period (P2), the risk of accident-related paediatric admissions with critical care lasting for at least 1 day was lower than in 2019 (HRR 0.67; 95% CI, 0.62-0.73; p < .001).</p><p><strong>Conclusions: </strong>Further research could usefully examine how parents create a safe home environment for their children.</p><p><strong>What is known: </strong>• During the COVID-19 pandemic, lockdown posed a number of unprecedented problems. Accidents to children are a major public health concern. This study sought to determine the impact of France's 2020 COVID-19 lockdown on hospital admissions for paediatric accidents.</p><p><strong>What is new: </strong>• The first nationwide COVID-19 lockdown in France was associated with a decrease in the absolute number of hospital admissions for paediatric accidents, for all age groups, as well as the number of accident-related paediatric hospital stays involving critical care.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"63"},"PeriodicalIF":3.0,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11618190/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142767245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Respiratory outcomes of onasemnogene abeparvovec treatment for spinal muscular atrophy: national real-world cohort study.","authors":"Moran Lavie, Mika Rochman, Keren Armoni Domany, Inbal Golan Tripto, Moria Be'er, Omri Besor, Liora Sagi, Sharon Aharoni, Mira Ginsberg, Iris Noyman, Hagit Levine","doi":"10.1007/s00431-024-05886-9","DOIUrl":"10.1007/s00431-024-05886-9","url":null,"abstract":"<p><p>Onasemnogene abeparvovec (OA) is a novel gene replacement therapy for patients with spinal muscular atrophy (SMA). This study provides real-world respiratory data for pediatric SMA patients receiving OA who were assessed before and one year after treatment in a multicenter cohort study conducted from 2019 to 2021. Twenty-five OA-treated SMA patients (23 with type 1 and 2 with type 2; median age at treatment 6.1 months, with a range of 0.36-23 months) were included. Sixteen were treatment-naïve, and nine had received various prior treatments. Two patients died due to respiratory failure during the study period. Of the remaining 23 patients, four were put on non-invasive ventilation (NIV), bringing ventilated patients to a total of ten during the post-treatment year. Three patients required permanent NIV support, while 13 did not require any respiratory support. Ventilation time decreased from 14.3 to 11.1 hours per day, and respiratory hospitalizations decreased by 26% (from 0.76 to 0.57 per life year). Fifteen of the 23 patients maintained full oral nutrition at study closure compared to 20 of the 25 at study initiation. This real-world data analysis demonstrates that OA may improve respiratory outcomes in SMA patients. Importantly, compounding factors, such as age at treatment initiation, treatment combinations, and natural history, may influence the respiratory course, thus highlighting the need for standardized long-term management. What is Known: • Respiratory failure is a leading cause of mortality in untreated spinal muscular atrophy type 1 patients. • Onasemnogene abeparvovec (OA) improves neurological outcomes, but real-world respiratory data are limited. What is New: • Our real-world analysis suggests OA may improve respiratory outcomes. • Age at treatment and treatment combinations may also influence respiratory trajectory.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"58"},"PeriodicalIF":3.0,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11614959/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142767380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Happy patient, happy doctor.","authors":"Giovanna Russo, Andrea Di Cataldo","doi":"10.1007/s00431-024-05908-6","DOIUrl":"https://doi.org/10.1007/s00431-024-05908-6","url":null,"abstract":"","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"59"},"PeriodicalIF":3.0,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142767222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome.","authors":"Elisabetta Sforza, Federico Calà, Claudia Manfredi, Antonio Lanatà, Andrea Guala, Cesare Danesino, Angelina Cistaro, Matelda Mazzocca, Lucia D'Alatri, Roberta Onesimo, Lorenzo Frassineti, Giuseppe Zampino","doi":"10.1007/s00431-024-05828-5","DOIUrl":"https://doi.org/10.1007/s00431-024-05828-5","url":null,"abstract":"<p><p>Genetic syndromes have been studied by extensive research allowing a better definition of their clinical manifestations, natural history, and etiopathogenetic mechanisms. Nevertheless, some relevant, but still unexplored aspects of these multisystemic conditions need to be clarified. One of these aspects is the characterization of the vocal production, especially in some genetic syndromes in which the distinctive voice is the hallmark of the syndrome (e.g., Cri du chat syndrome, CdCS). The aim of this study is to provide a detailed description of phonotype of patients affected by CdCS. We prospectively recorded and analysed acoustical features of three corner vowels [a], [i], and [u] and number listing from 1 to 10 of 29 patients with molecularly confirmed CdCS (age range 4-21 years; mean 11 ± 6; median 10 years). For perceptual analysis, the GIRBAS scale was completed. The acoustical analysis was performed through BioVoice software. When stratified by age and gender, in the older men subgroup the grade, roughness, and asthenia mean values are the highest for each vowel, when compared with values of the same parameters obtained in the other subgroups. Statistical analysis highlighted 26 significant differences: 38% (10) concern the sustained phonation of /a/, 27% (7) are related to /i/ whereas 19% (5) to /u/. Ratio1, Ratio2, VSA, and FCR were also significant. Conclusion: The voice production not only conveys linguistic and paralinguistic information but also can give information regarding the speaker's biological and clinical characteristics.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"60"},"PeriodicalIF":3.0,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142767196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}