Children-Basel最新文献

{"title":"Verifying the Japanese Version of Pediatric Delirium and Withdrawal Syndrome Assessment Scale: SOS-PD Validation Study for Iatrogenic Withdrawal Syndrome.","authors":"Yujiro Matsuishi, Haruhiko Hoshino, Yuki Enomoto, Takahiro Kido, Nobutake Shimojo, Bryan J Mathis, Erwin Ista, Yoshiaki Inoue","doi":"10.3390/children12030372","DOIUrl":"10.3390/children12030372","url":null,"abstract":"<p><p><b><b>Background:</b></b> Iatrogenic withdrawal syndrome (IWS) poses a significant clinical challenge in pediatric intensive care units (PICUs) within Japan. Despite the existing availability of tools to assess pain and delirium, a validated instrument specifically designed for IWS has been notably absent in Japanese clinical practice. The Sophia Observation withdrawal Symptoms-Paediatric Delirium (SOS-PD) scale is globally recognized as an effective tool for IWS evaluation. To bridge this gap, this study aimed to validate the Japanese version of the SOS-PD scale. <b>Methods</b>: A prospective, cohort, observational study was undertaken in a single-center PICU in Japan. Participants ranged from neonates to children aged 20 years, excluding those with pre-existing neurological conditions or coma. Criterion validity was evaluated by comparing Japanese SOS-PD scale scores between a Weaning Group (WEAN) undergoing sedative/opioid tapering and a Maintenance Group (MAIN) receiving stable medication. Correlation analysis was also conducted against pediatric intensivists' observational NRS (NRSobs). Inter-rater reliability of the Japanese SOS-PD scale was assessed utilizing kappa statistics and intraclass correlation coefficient (ICC). <b>Results</b>: In support of criterion validity, the WEAN group demonstrated significantly higher scores in both NRSobs and the IWS component of the Japanese SOS-PD scale compared to the MAIN group (<i>p</i> < 0.001). A strong correlation was observed between the Japanese SOS-PD IWS component and NRSobs (r = 0.91, <i>p</i> < 0.001). Inter-rater reliability was also robust, with a kappa coefficient of 0.95 and an ICC of 0.98. <b>Conclusions</b>: The Japanese version of the SOS-PD scale exhibits strong validity and inter-rater reliability for IWS assessment within Japanese PICUs. This validated instrument can support the early detection and appropriate management of pediatric IWS in Japan, with the potential to enhance the quality of patient care.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 3","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11940977/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Periodontal Status and Herpesiviridae, Bacteria, and Fungi in Gingivitis and Periodontitis of Systemically Compromised Pediatric Subjects: A Systematic Review.","authors":"Federica Di Spirito, Massimo Pisano, Maria Pia Di Palo, Giuseppina De Benedetto, Iman Rizki, Gianluigi Franci, Massimo Amato","doi":"10.3390/children12030375","DOIUrl":"10.3390/children12030375","url":null,"abstract":"<p><strong>Background: </strong>Gingivitis and periodontitis are microbially associated diseases, with some features characteristic of pediatric age and others linked to systemic diseases. While the role of periodontal pathogenic bacteria is well recognized, the contribution of fungi and viruses, particularly <i>Herpesviridae</i>, remains controversial. Studies in adults have highlighted the presence of <i>Herpesviridae</i>, but evidence in pediatric subjects, especially systemically compromised, is limited. This systematic review aimed to assess periodontal status (e.g., health, gingivitis, periodontitis, necrotizing gingivitis, and/or periodontitis) and the subgingival and/or salivary microbial (bacterial, viral, and fungal) profile in systemically compromised pediatric (≤18 years) subjects with gingivitis and/or periodontitis compared to clinical periodontal health.</p><p><strong>Methods: </strong>The review protocol was registered on PROSPERO (CRD42024597695) and followed the PRISMA statement. Data from eight studies were descriptively analyzed and qualitatively assessed through ROBINS-I and JBI tools.</p><p><strong>Results: </strong>CMV was frequently detected, particularly in necrotizing gingivitis (19.40%). EBV was found in necrotizing gingivitis (20.69%) and periodontitis (10.34%); HSV was mainly associated with gingivitis and necrotizing gingivitis. Bacteria species in periodontitis included <i>Porphyromonas gingivalis</i>, <i>Tannerella forsythia</i>, <i>Fusobacterium</i>, and <i>Campylobacter</i> species. <i>Candida albicans</i> was detected in periodontitis, suggesting a fungal involvement in the disease's pathogenesis. Although the bacterial and fungal profile was not investigated, limited viral presence was noted in subjects with healthy periodontium, indicating a stable microbiome.</p><p><strong>Conclusions: </strong>These findings underscore the dynamics of microbial interactions in the progression of periodontal disease in systemically compromised pediatric subjects.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 3","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Methodological Components for Evaluating Intervention Effectiveness of SOS Feeding Approach: A Feasibility Study.","authors":"Sarah A Schoen, Rachel Balderrama, Emma Dopheide, Ariel Harris, Laura Hoffman, Samantha Sasse","doi":"10.3390/children12030373","DOIUrl":"10.3390/children12030373","url":null,"abstract":"<p><p><b>Background/Objectives</b>: There is a paucity of research that explores the effectiveness of the Sequential Oral Sensory (SOS) Approach to Feeding. The purpose of this feasibility study was to evaluate the necessary components for the implementation of a treatment effectiveness study on the Sequential Oral Sensory (SOS) Approach to Feeding. The primary aims were to develop a fidelity measure, determine the feasibility of video coding, create an observational coding scheme, and determine if the outcome measures were sensitive to change. <b>Methods</b>: Over a 4-year period, data were collected from twelve participants aged 4 to 8 years with developmental disorders, with the assistance of four occupational therapy doctoral students. A fidelity measure was created, and inter-rater reliability was established among the four coders. Videotapes were collected at home and in the clinic. A behavioral coding system, consistent with the SOS Steps to Eating hierarchy, was developed for scoring feeding behaviors. <b>Results</b>: The preliminary inter-rater reliability was reported, and the coding results were represented graphically. Two additional outcome measures were piloted-a visual analog scale (VAS) and the Parenting Stress Index (PSI). The VAS was sensitive to changes in each parent's ability to support their child, as well as in each client's progress. The PSI also showed sensitivity to changes in the decline of parent-reported stress and child stress indices. <b>Conclusions</b>: Findings demonstrate fidelity to the SOS Approach, as well as sensitive outcomes, using behavioral coding and parent-reported measures. These evidence-based tools and procedures offer researchers and clinicians objective and meaningful feeding outcomes.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 3","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11940901/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autotransplantation of Impacted Third Molars to DCIA Free Flap in Adolescent Patient: A Case Report.","authors":"Benjamin Walch, Alexander Gaggl, Katharina Zeman-Kuhnert, Christian Brandtner","doi":"10.3390/children12030370","DOIUrl":"10.3390/children12030370","url":null,"abstract":"<p><strong>Introduction: </strong>Tooth autotransplantation is a well-established dental surgical procedure. However, third molar autotransplantation to bony free flaps is rarely performed. We present a case of two impacted wisdom teeth that were transplanted to a DCIA free flap using 3D printing technologies.</p><p><strong>Case report: </strong>A 10-year-old girl was diagnosed with ossifying fibroma. She underwent a segmental mandibular resection with nerve preservation and reconstruction using a DCIA free flap. Six years later, due to edentulism, wisdom tooth autotransplantation was performed with digital planning, thermoplastic vacuum-formed guides, and 3D-printed replicas. Postoperatively, splint fixation was required for 12 weeks due to mobility, and a minor wound complication resolved spontaneously. At the one-year follow-up, the transplanted teeth integrated successfully without resorption or ankylosis. Orthodontic treatment was initiated to optimize alignment.</p><p><strong>Conclusions: </strong>This case of an impacted third molar autotransplantation to a DCIA free flap in an adolescent patient after a non-malignant mandibular tumor resection and reconstruction demonstrates promising results. The application of 3D printing technology significantly enhances the feasibility of dental transplantation in challenging cases, particularly for suboptimal donor teeth such as impacted wisdom teeth, by enabling precise surgical planning and optimized recipient site preparation while also reducing damage to the grafted teeth during transplantation. Further research is needed to assess the role of tooth autotransplantation in bony free flaps.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 3","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941516/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autism Spectrum Disorder, Oral Implications, and Oral Microbiota.","authors":"Emiliana D'Angelo, Fausto Fiori, Giuseppe A Ferraro, Assunta Tessitore, Luca Nazzaro, Rosario Serpico, Maria Contaldo","doi":"10.3390/children12030368","DOIUrl":"10.3390/children12030368","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by difficulties in social interaction, communication, and repetitive behaviors. Recent evidence indicates a significant relationship between ASD and imbalances in microbiota, particularly in the oral and gastrointestinal areas. This review examines the impact of oral microbiota, self-injurious behaviors (SIB), sensory sensitivity, and dietary choices on the comorbidities associated with ASD. <b>Methods:</b> An extensive literature review was conducted using PubMed and Scopus. The focus was on human studies with full-text availability, utilizing search terms related to ASD, oral health, oral microbiota, and neurodevelopmental disorders. The research was evaluated for methodological quality and its relevance to the connections between microbiota, oral health, and ASD. <b>Results:</b> Individuals with ASD face unique oral health challenges, including injuries from self-injurious behaviors and increased sensory sensitivity, which complicate oral hygiene and care. Selective eating can lead to nutritional deficiencies and worsen oral health issues. Dysbiosis in oral and gut microbiota, marked by altered levels of acetate, propionate, and butyrate, interferes with gut-brain and oral-brain connections, contributing to behavioral and neurological symptoms. Treatment options such as probiotics, fecal microbiota transfer, and sensory integration therapies can potentially alleviate symptoms and improve quality of life. <b>Conclusions</b>: The relationship between ASD, oral health, and microbiota suggests a bidirectional influence through neuroinflammatory mechanisms and metabolic disturbances. Proactive strategies focusing on microbiota and dental health may help reduce comorbidities and enhance the overall management of ASD, underscoring the need for further research into microbiota-host interactions and their therapeutic potential.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 3","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941467/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Missed or Delayed Diagnosis of Heart Disease by the General Pediatrician.","authors":"Ageliki A Karatza, Sotirios Fouzas, Despoina Gkentzi, Eirini Kostopoulou, Christina Loukopoulou, Gabriel Dimitriou, Xenophon Sinopidis","doi":"10.3390/children12030366","DOIUrl":"10.3390/children12030366","url":null,"abstract":"<p><p>Missed or delayed heart disease diagnoses pose a major challenge in pediatric primary care. Many cardiac conditions present with subtle or nonspecific symptoms that resemble benign childhood illnesses, making their prompt recognition difficult. This review describes congenital and acquired heart diseases prone to diagnostic delays, including critical congenital heart disease, coarctation of the aorta, atrial and ventricular septal defects, myocarditis, Kawasaki disease, heart failure, and pulmonary arterial hypertension. The atypical presentations of these disorders and the associated diagnostic pitfalls are emphasized. Furthermore, the importance of alarming symptoms and signs, such as chest pain, palpitations, syncope, and abnormal heart murmurs, is underscored. A structured approach to these red flags is presented to assist primary care pediatricians in identifying children at risk, initiating appropriate management, and referring them for specialized evaluation. The importance of preparticipation screening for athletes is also discussed, highlighting how it can be applied to all children during routine health visits to identify those with heart disease. Appropriate training is essential to increase pediatricians' ability to recognize and manage cardiac patients.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 3","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941687/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of Kinesio Taping on Oral Feeding and Swallowing Functions: Acoustic Analysis of Swallowing Sounds in Late Preterm Infants-A Randomized Clinical Trial.","authors":"Nilay Comuk Balci, Deniz Anuk Ince, Ayşe Ecevit, Balkar Erdoğan, Ilknur Ezgi Doğan, Ozden Turan, Aylin Tarcan","doi":"10.3390/children12030369","DOIUrl":"10.3390/children12030369","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Feeding difficulties in late preterm infants are a major factor contributing to prolonged hospitalization and re-admission. Early support for the sucking and swallowing muscles may accelerate their maturation, facilitating safe and early discharge. This study aims to evaluate the effects of the Kinesio-taping technique on feeding muscles and assess feeding and swallowing function in late preterm infants through the acoustic analysis of swallowing sounds. <b>Methods:</b> Seventy-four late preterm infants (mean gestational age 35.30 ± 0.81 weeks) were randomly assigned to either a Kinesio-taping group or a control group. A single physiotherapist applied Kinesio taping to support the masseter and hyoid muscles, using a facilitatory technique to enhance muscle function. The Kinesio taping was removed two days after its application. The amount of milk intake, the time for milk intake, oxygen saturation during milk intake, the number of days required for transition to full oral feeding, the length of hospital stay, the duration of oxygen requirement, the maximum number of rhythmic swallows, and the heart rate during milk intake were recorded using a digital stethoscope before and two days after Kinesio-taping application. The collected data were assessed through acoustic analysis. <b>Results:</b> No statistically significant differences were observed between the Kinesio-taping and control groups regarding milk intake amount, feeding duration, oxygen saturation during feeding, the transition time to full oral feeding, the length of hospital stay, or the duration of oxygen support (<i>p</i> > 0.05). However, a significant difference was found between the groups in the maximum number of rhythmic swallows during feeding and the heart rate during milk intake (<i>p</i> < 0.05). <b>Conclusions:</b> The application of the Kinesio-taping technique showed no adverse effects on preterm infants in the NICU during the feeding skills intervention. The assessment of acoustic analysis revealed a significant difference in the maximum number of rhythmic swallows and heart stabilization during feeding in the Kinesio-taping group. Further studies are warranted, incorporating different application types and techniques with larger sample sizes, especially among preterm infants with an early gestational age in the NICU, to stabilize the suck and swallow muscles.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 3","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941115/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Method to Study Hip Growth and Development in Children with Cerebral Palsy.","authors":"Luiz Carlos Almeida da Silva, Yusuke Hori, Burak Kaymaz, Jason J Howard, Arianna Trionfo, Michael Wade Shrader, Freeman Miller","doi":"10.3390/children12030367","DOIUrl":"10.3390/children12030367","url":null,"abstract":"<p><strong>Background: </strong>Knowledge of the relative contributions to different growth areas in the proximal femur and acetabulum is limited due to the complex anatomy and lack of growth markers in children. There is increasing interest in using guided growth to improve hip joint stability and decrease dysplasia in children with neurological disability. Some children with cerebral palsy (CP) are treated with bisphosphonates for bone insufficiency, which leaves a dense growth arrest band in the bone at the time of treatment. The aim of this study was to develop a novel approach to understand the growth and maturation impact on hip development in children with CP using this growth arrest band.</p><p><strong>Methods: </strong>Pelvic radiographs of children with CP Gross Motor Function Classification System (GMFCS) level IV/V treated with bisphosphonate were analyzed. We measured neck-shaft angle (NSA), head-shaft angle (HSA), and migration percentage (MP) based on pamidronate bands (PamMP), NSA based on pamidronate bands (PamNSA), and HSA based on pamidronate bands (PamHSA). These measurements were compared using <i>t</i>-test.</p><p><strong>Results: </strong>Seven children (two GMFCS IV and five GMFCS V) were included. The mean age of the radiographic assessment was 11.4 ± 1.3 (range, 8.6-12.5) years, mean MP 22 ± 7% (range, 13-39%), PamMP 33 ± 7% (range, 18-46%), NSA 151 ± 7° (range, 140-161°), PamNSA 153 ± 4° (range, 142-163°), HSA 164 ± 12° (range, 142-175°), and PamHSA 169 ± 8° (range, 154-175°). MP decreased by 10.5% compared with PamMP (<i>p</i> < 0.001). NSA compared with PamNSA (<i>p</i> = 0.117) and HSA compared with PamHSA (<i>p</i> = 0.325) were not statistically different.</p><p><strong>Conclusions: </strong>This novel assessment method demonstrates that ossification of the lateral acetabulum and femoral head in children with CP GMFCS IV/V from age 8 to 12 years undergoes a mean decrease of 10% MP. A decrease of 10% MP after proximal femoral-guided growth has been reported as a positive outcome. However, based on the current measurements, this may be due to normal development. HSA and NSA remained unchanged.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 3","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11940897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Health-Related Quality of Life of Individuals with Physical Disabilities in Childhood.","authors":"Chris Church, Sana Patil, Stephanie Butler, Freeman Miller, Jose J Salazar-Torres, Nancy Lennon, M Wade Shrader, Maureen Donohoe, Faithe Kalisperis, W G Stuart Mackenzie, Louise Reid Nichols","doi":"10.3390/children12030365","DOIUrl":"10.3390/children12030365","url":null,"abstract":"<p><p><b>Background</b>: The use of patient-reported outcomes is essential to understand and manage health-related quality of life (HRQOL) in youth with lifelong disabilities. This study evaluated HRQOL in youth with physical disorders and examined its relationship with mobility. <b>Methods:</b> We conducted an IRB-approved retrospective study in which we administered the parent-reported Pediatric Outcomes Data Collection Instrument (PODCI) and Gross Motor Function Measure section D (GMFM-D) to ambulatory youth aged 2-18 years with cerebral palsy (CP; Gross Motor Function Classification System II; <i>n</i> = 258), arthrogryposis (<i>n</i> = 138), achondroplasia (<i>n</i> = 102), and Morquio syndrome (<i>n</i> = 52) during clinical visits to a gait lab. The PODCI has two validated versions, child and adolescent, that assess perceptions about mobility, happiness, and pain. Differences in HRQOL between diagnostic groups, between age groups, and compared with non-disabled youth were examined using non-parametric tests. The relationship between GMFM-D and PODCI scores was analyzed with Pearson's correlations. <b>Results:</b> Both age cohorts within all diagnosis groups demonstrated higher pain and lower mobility compared with non-disabled youth (<i>p</i> < 0.015). Happiness was lower for both age groups with CP and arthrogryposis, and for the child group with Morquio syndrome compared with non-disabled youth (<i>p</i> < 0.002). In diagnostic groups in both age spans, Global Function was higher (<i>p</i> < 0.0001) for those with achondroplasia compared with other groups. Despite functional differences, there were no significant differences between diagnostic groups in pain scores (<i>p</i> > 0.10). Happiness was lower in the group with CP compared with that with achondroplasia (<i>p</i> = 0.01). GMFM-D was related to PODCI mobility scores for all diagnoses <i>(r</i> = 0.31 to 0.79, <i>p</i> < 0.03) but was not correlated with happiness (<i>r</i> = -0.16 to 0.092; <i>p</i> > 0.14); GMFM-D and PODCI pain scores were associated only for the child group with achondroplasia (<i>r</i> = 0.355; <i>p</i> < 0.001). <b>Conclusions:</b> Significant limitations in HRQOL are present in youth with physical disabilities. Pain levels were higher than those of non-disabled youth, but pain was not related to lower motor function. Happiness was not related to gross motor function, suggesting the need to examine other factors when mental health concerns are present in youth with disabilities.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 3","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941727/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Missense Variant in <i>LHX4</i> in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional <i>GLI2</i> and <i>IGFR1</i> Variant.","authors":"Claudia Santoro, Francesca Aiello, Antonella Farina, Emanuele Miraglia Del Giudice, Filomena Pascarella, Maria Rosaria Licenziati, Nicola Improda, Giulio Piluso, Annalaura Torella, Francesca Del Vecchio Blanco, Mario Cirillo, Vincenzo Nigro, Anna Grandone","doi":"10.3390/children12030364","DOIUrl":"10.3390/children12030364","url":null,"abstract":"<p><strong>Background: </strong>Multiple genes can disrupt hypothalamic-pituitary axis development, causing multiple pituitary hormone deficiencies (MPHD). Despite advances in next-generation sequencing (NGS) identifying over 30 key genes, 85% of cases remain unsolved, indicating complex genotype-phenotype correlations and variable inheritance patterns.</p><p><strong>Objective: </strong>This study aimed to identify the MPHD genetics in three probands from two unrelated families.</p><p><strong>Methods: </strong>Family A had one affected child, while Family B had two affected siblings. All probands exhibited poor growth since birth, and family B's probands were born small for gestational age. Growth hormone deficiency was confirmed in all subjects. Family B's probands responded poorly to growth hormone treatment compared to the first patient. Furthermore, Family A's proband and Family B's younger sibling developed central hypothyroidism, while Family B's older sibling presented hypogonadotropic hypogonadism. Brain magnetic resonance imaging (MRI) revealed pituitary hypoplasia, ectopic posterior pituitary gland, and small sella turcica in all probands. Patients and their available relatives underwent NGS.</p><p><strong>Results: </strong>NGS identified the same novel and likely pathogenic LHX4 variant (c.481C>G) in all probands despite the families being unrelated. Additionally, Family A's proband carried a <i>GLI2</i> variant (c.2105C>A), and Family B's probands carried an IGF1R variant (c.166G>A), both interpreted as being of uncertain significance.</p><p><strong>Conclusions: </strong>This study confirms that heterozygous pathogenic variants of LHX4 can cause MPHD associated with a specific neuroradiological triad of abnormalities despite incomplete penetrance and variable phenotype. Moreover, the co-occurrence of the other two gene variants was debated. The <i>IGF1R</i> variant could explain the unusually poor response to growth hormone therapy in Family B, suggesting an oligogenic mechanism underlying the phenotype.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 3","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941417/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}