Mariam Kamel Ibrahim, Hafeeza Jummakhan, Malak Dawood, Mariam Siam, Minat Allah Alhusami, Sara Khan, Jonathan Mokhtar, Hani T. S. Benamer, Mohamed O. E. Babiker
Gastrostomy feeding is widely used for children with neurological impairment and inadequate oral intake, but evidence across family-important outcomes has not been synthesised. Previous systematic reviews were restricted to cerebral palsy and found no controlled studies. The objective of this study is to assess gastrostomy vs. continued oral/nasogastric feeding on nutritional, respiratory, neurodevelopmental, and caregiver-reported outcomes, and to quantify complications. A PROSPERO-registered systematic review (CRD420261483110) was conducted following PRISMA 2020 guidelines. Five databases were searched to 15 July 2026 for children aged 0-18 with neurological impairment undergoing gastrostomy. Duplicate screening, data extraction, and risk-of-bias appraisal (RoB 2, ROBINS-I, JBI, CASP) were performed. Heterogeneity precluded meta-analysis; narrative synthesis prioritized study design and methodological quality over direction-of-effect vote counting. From 5,503 records, 120 studies (≈117 cohorts, 30 countries) met the criteria. The evidence was predominantly observational, and most comparative studies carried a serious risk of bias. Nutritional status improved in the majority of 56 studies, though earlier placement's association with more robust catch-up growth does not establish causality. Among 56 respiratory studies, smaller cohorts reported fewer infections, but the largest propensity-matched and population-linked datasets showed no reduction, and in some analyses an increase, in pneumonia hospitalisations. Minor complications were common (20%–95%). Major complications clustered at 0%–3% without concurrent antireflux surgery, but rose several-fold when fundoplication or jejunal extensions were added. Reflux outcomes (59 studies) depended on preoperative status; it is hypothesized from limited physiological data that gastrostomy may increase de novo reflux risk in previously reflux-free children, though <10% required subsequent antireflux surgery. All-cause mortality (67 studies) was high but disease-related; procedure-attributable death was rare, and 30-day mortality was 0%–3% outside the most fragile groups. Quality-of-life data (21 studies) showed favourable caregiver outcomes in 14/17 studies, but the child's quality of life has been measured properly only once and was unchanged. Only 11 studies addressed neurodevelopment; the single study using a standardised instrument found cognitive recovery unrelated to the feeding route. Gastrostomy is consistently associated with improved weight-based nutritional status and carries low serious surgical harm when performed without concurrent antireflux surgery. It does not eliminate aspiration risk and is hypothesized to increase de novo reflux risk in previously reflux-free children. Caregiver quality of life improves on validated measurement; however, the available evidence is insufficient to determine whether gastrostomy has a favourable, unfavourable, or neutral effect on a child's neurodevelopment. PROSPERO: https://www.crd.york.ac.uk/PROSPERO/view/CRD420261483110 .
Yun Han, Jiaying Liu, Chengxu Song, Li Fu, Yu Gu, Yu Zeng, Zhenzhuang Zou
Kawasaki disease (KD) is an immune-mediated pediatric vasculitis characterized by dynamic interactions among genetic susceptibility, innate and adaptive immune activation, endothelial dysfunction, and vascular remodeling. Although intravenous immunoglobulin (IVIG) therapy substantially reduces coronary complications, 10%–20% of patients show persistent or recurrent fever after initial IVIG treatment, and reliable clinically validated molecular approaches for diagnosis, treatment-response prediction, and coronary-risk stratification remain unavailable. Recent advances in multi-omics technologies, including genomics, epigenomics, transcriptomics, single-cell sequencing, proteomics, metabolomics, and microbiome profiling, have expanded our understanding of KD-associated immune dysregulation. However, the clinical interpretation of these molecular findings remains challenging because of limited cohort sizes, heterogeneous control populations, treatment-related confounding, and insufficient external validation. In this review, we integrate evidence across multiple molecular layers and propose a framework in which current KD multi-omics findings converge into candidate biological programs rather than fixed molecular subtypes. These programs may represent temporally dynamic biological states along a shared inflammatory trajectory, influenced by disease phase, cellular composition, genetic background, and treatment exposure. Synthesized from convergent multi-omics evidence rather than derived from formal molecular classification, these candidate biological programs include myeloid inflammatory activation characterized by S100A8/A9 and IL-1/NF- κ B signaling, interferon-associated immune responses, and vascular injury/remodeling responses involving endothelial activation and extracellular matrix regulation. Current evidence supports biologically meaningful molecular programs that may contribute to clinical heterogeneity, but prospective validation is required before molecular signatures can be applied as clinical classifiers or treatment-selection tools. Integrating multi-omics approaches with functional validation, longitudinal sampling, and multicenter studies may facilitate the development of precision immunomodulation strategies for Kawasaki disease.
Jinju Lee, Sejin Kwon, Jin Young Ko, Yulhyun Park, Jaewon Lee, Ju Seok Ryu, Jee Hyun Suh
Digital approaches to articulation assessment are increasingly proposed to expand access to speech-language evaluation, yet the comparability of speech performance elicited by digital and conventional word lists across age groups remains insufficiently understood. This study assessed age-specific agreement between Hi-DongDong word list, a novel digital articulation assessment instrument, and the Urimal Test of Articulation and Phonology 2 (UTAP-2), the standard reference in South Korea, in 505 typically developing Korean children aged 2-13 years. Each child's audio recordings were scored by three independent speech-language pathologists on both instruments. Agreement for consonant accuracy measures-Percentage of Consonants Correct (PCC), its revised form, and their totals-and for whole-word correctness was evaluated using intraclass correlation coefficients (ICC), Bland-Altman bias and limits of agreement (LoA), and linear mixed-effects models. Inter-rater reliability was excellent for all metrics (ICC ≥ 0.995). At the population level, no significant instrument-by-age or instrument-by-age² interactions were observed, indicating that the age-related developmental trajectories did not differ significantly between Hi-DongDong and UTAP-2, although PWC showed a significant main effect of instrument, with lower scores for Hi-DongDong than UTAP-2 at the mean-centered age. Individual-level agreement, however, was strongly age-dependent. Low ICC values at ages 9 and 12 co-occurred with narrow LoA and ceiling-compressed scores, identifying them as artifacts of variance restriction rather than true disagreement. In contrast, ages 4 and 7 showed low ICC with wide LoA, reflecting genuine measurement divergence during periods of rapid or transitional phonological development. Among school-age children (7 years and older), bias was negligible (within ±1 percentage point) and LoA were narrow (approximately 8-24 percentage points), whereas preschool-age children showed substantially wider individual-level LoA. Hi-DongDong additionally sustained discriminative sensitivity for both consonants and vowels-including diphthongs-across a wider developmental range than the monophthong-only UTAP-2. These findings support the use of Hi-DongDong as a complementary articulation word-list assessment across development, while underscoring that the present study evaluated clinician-scored agreement between word lists rather than automated diagnostic performance. https://clinicaltrials.gov/study/NCT07273370?term=NCT07273370&rank=1 , NCT07273370
Andersen-Tawil syndrome (ATS) is a rare disorder featuring ventricular arrhythmias, periodic paralysis, and skeletal anomalies. KCNJ2 mutations account for about 70% of cases. We report a child with a novel KCNJ2 mutation and subclinical hypothyroidism, an association not previously described. A 10-year-old boy presented with episodic limb weakness, palpitations, low-set ears, and bilateral fifth-finger bending. Labs showed spontaneous normokalemia without potassium supplementation, elevated creatine kinase, and subclinical hypothyroidism. ECG revealed frequent ventricular premature beats. Genetic testing identified a heterozygous KCNJ2 c.461G > A (p.C154Y) mutation, confirmed as de novo . The patient was treated with propafenone and acetazolamide. At six months, paralytic episodes decreased from weekly to one mild event, and premature beats reduced markedly on Holter. No adverse effects occurred. This case expands the KCNJ2 mutation spectrum and suggests thyroid screening may be considered in ATS. With proper treatment, short-term prognosis is favorable.
Musculoskeletal manifestations may appear before hematologic abnormalities in childhood acute lymphoblastic leukemia (ALL), making diagnosis difficult. Extensive vertebral compression fractures involving the cervical, thoracic, and lumbar spine as the first sign of ALL are very rare, particularly when peripheral blood abnormalities are limited and circulating blasts are absent. We report a 5-year-old boy who presented with severe back pain and inability to walk after minor trauma. The initial lumbar computed tomography (CT) was reported as showing no definite vertebral fracture, but whole-spine magnetic resonance imaging (MRI) showed diffuse bone marrow infiltration with extensive pathological compression fractures involving the cervical, thoracic, and lumbar vertebrae. Peripheral blood tests showed leukopenia and neutropenia without circulating blasts, which contributed to the initial diagnostic uncertainty. Bone marrow examination confirmed common B-cell acute lymphoblastic leukemia with high hyperdiploidy and a KRAS p.G13D mutation. After induction therapy according to the South China Children's Cancer Group (SCCCG)-ALL-2023 protocol, his back pain was greatly relieved, he regained independent ambulation, and flow cytometric and molecular measurable residual disease (MRD) assessments became negative. Extensive vertebral compression fractures can be an early manifestation of childhood ALL, even when circulating blasts are absent and peripheral blood abnormalities are limited. Children with persistent axial skeletal pain or unexplained vertebral compression fractures should be evaluated for hematologic malignancy, especially when their symptoms are more severe than expected from routine imaging or peripheral blood findings. Early whole-spine MRI and timely bone marrow examination may help establish the diagnosis and avoid unnecessary delay.
