Background: 20p13 microdeletion syndrome has been reported to be associated with developmental delays, intellectual disability, epilepsy, and unspecific dysmorphic characteristics. However, only a few cases of 20p13 microdeletion have been described, and therefore its typical features and precise pathogenesis remain elusive.Methods and Results: In this article, we report the case of a 9‐month‐old infant who presented with a large fontanelle, facial dysmorphism, and failure to thrive. Array‐comparative genomic hybridization (aCGH) analysis confirmed a 2.01‐Mb microdeletion in chromosome band 20p13 that involved SOX12 and NRSN2, both of which are considered paramount causative genes in patients with 20p13 microdeletion. To elucidate the typical features of 20p13 microdeletion, we further reviewed these previously reported cases and found that motor delay (90%) was the most common manifestation, followed by language delay (60%), abnormal digits (60%), mental retardation (50%), large fontanelle (50%), electroencephalography abnormalities (50%), and seizure (40%).Conclusion: This report highlights the potential of aCGH as a practical and powerful tool with which to detect submicroscopic chromosomal abnormalities in individuals presenting with a wide spectrum of phenotypes, ranging from facial dysmorphism to failure to thrive. Additionally, the literature review casts new light on the clinical features of 20p13 microdeletion.

Background: Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the HPRT1 gene, resulting in hypoxanthine–guanine phosphoribosyltransferase (HPRT) deficiency. Early diagnosis is critical for optimizing management and improving outcomes. This study presents a case series of three Taiwanese patients diagnosed at a single medical center. Methods: Exome sequencing and biochemical testing were used to confirm the diagnoses. Early clinical manifestations, including hyperuricemia, hypotonia, and developmental delay, were documented during the initial stages of the disease. Results: All three patients had hyperuricemia, hypotonia, spasticity, and motor developmental delay. Pathogenic variants in the HPRT1 gene were identified in two patients, while the third was confirmed by biochemical testing. Two patients had orange-colored crystalline deposits in their diapers, indicative of hyperuricosuria. Self-injurious behavior had not yet developed in two patients due to their young age. Conclusions: Early clinical features such as hyperuricemia, hypotonia, and motor delay may suggest LNS in infancy. Molecular genetic testing, particularly whole exome sequencing, can facilitate an early diagnosis before specific manifestations occur, enabling timely interventions and improving patient outcomes.

Background/Objectives: Achondroplasia is the most common skeletal dysplasia, affecting 1 in 25,000 births. Limited research exists on the assessment of functional independence using standardized tools in children and adolescents with achondroplasia. The WeeFIM scale provides a comprehensive evaluation of daily living skills across multiple functional domains. This study aimed to assess the functional independence levels in children and adolescents with achondroplasia using WeeFIM and analyze functional capabilities. Methods: This multicenter cross-sectional study included 46 participants aged 6–18 years with confirmed achondroplasia. Data were collected through standardized WeeFIM assessments from medical centers and online surveys (2021–2024). WeeFIM evaluates 18 functional items across 3 domains: self-care (8 items), mobility (5 items), and cognition (5 items), scored 1–7 (complete dependence to independence). Results: Participants included 26 males (56.5%) and 20 females (43.5%). Most (78.3%) were diagnosed during infancy. The mean functional scores were highest for cognition (34.0/35, 97.1%), followed by self-care (51.2/56, 91.4%) and mobility (31.5/35, 90.0%). Most participants achieved near-complete independence in cognitive functions. Mobility tasks, particularly stair climbing and bathtub transfers, showed the greatest challenges. Functional independence increased with age, with significant improvements during early childhood to adolescence transition. Conclusions: Children and adolescents with achondroplasia demonstrate high functional independence across daily activities, with cognitive abilities largely unaffected. Although specific mobility challenges exist, most participants achieve independence with appropriate accommodations. These findings provide valuable baseline data for clinical care planning and support optimistic functional outcomes for pediatric patients with achondroplasia.

Background Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the HPRT1 gene, resulting in hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Early diagnosis is critical for optimizing management and improving outcomes. This study presents a case series of three Taiwanese patients diagnosed at a single medical center. Methods This case series involved three male patients with LNS. Exome sequencing and biochemical testing were used to confirm the diagnoses. Early clinical manifestations including hyperuricemia, hypotonia, and developmental delay were documented during the initial stages of the disease. Results All three patients had hyperuricemia, hypotonia, spasticity, and motor developmental delay. Pathogenic variants in the HPRT1 gene were identified in two patients, while the third was confirmed by biochemical testing. Two patients had orange-colored crystalline deposits in their diapers, indicative of hyperuricosuria. Self-injurious behavior had not yet developed in two patients due to their young age. Conclusions Early clinical features such as hyperuricemia, hypotonia, and motor delay may suggest LNS in infancy. Molecular genetic testing, particularly whole exome sequencing, can facilitate an early diagnosis before specific manifestations occur, enabling timely interventions and improving patient outcomes.

Background/Objectives: Achondroplasia is the most common skeletal dysplasia, affecting 1 in 25,000 births. Limited research exists on the assessment of functional independence using standardized tools across the lifespan of individuals with achondroplasia. The WeeFIM scale provides a comprehensive evaluation of daily living skills across multiple functional domains. This study aimed to assess the functional independence levels in children, adolescents, and young adults with achondroplasia using WeeFIM and analyze functional capabilities. Methods: This multicenter cross-sectional study included 51 participants aged 6–47 years with confirmed achondroplasia. Data were collected through standardized WeeFIM assessments from medical centers and online surveys (2021–2024). WeeFIM evaluates 18 functional items across 3 domains: self-care (8 items), mobility (5 items), and cognition (5 items), scored 1–7 (complete dependence to independence). Results: Participants included 29 males (56.9%) and 22 females (43.1%). Most (78.4%) were diagnosed during infancy. The mean functional scores were the highest for cognition (34.2/35, 97.7%), followed by self-care (52.8/56, 94.3%) and mobility (32.1/35, 91.7%). All participants achieved near-complete independence in cognitive functions. Mobility tasks, particularly stair climbing and bathtub transfers, showed the greatest score variability. Functional independence increased with age, with significant improvements during early childhood to school-age transition. Conclusions: Children, adolescents, and young adults with achondroplasia demonstrate high functional independence across daily activities, with cognitive abilities unaffected. Although specific mobility challenges exist, most participants achieve independence with appropriate accommodations. These findings provide valuable baseline data for clinical care planning and support optimistic functional outcomes across the lifespan of patients with achondroplasia.

Background and Objectives: The coronavirus disease 2019 (COVID-19) pandemic significantly impacted healthcare systems worldwide. As a result, remote areas such as the Penghu Islands have encountered unique challenges related to pediatric care. This study examined the effects of the pandemic on the emergency air medical transport (EAMT) of pediatric patients from the Penghu Islands to Taiwan. Materials and Methods: This retrospective study analyzed 40 pediatric patients who received EAMT from the Penghu Islands to Taiwan between January 2017 and December 2022. This study compared patients before and during the COVID-19 pandemic and focused on patient demographics, reasons for EAMT, and clinical outcomes. Due to the small sample size, non-parametric statistical methods were applied, including the Mann–Whitney U-test for continuous variables and Fisher’s exact test for categorical variables. Results: Among the 40 pediatric patients analyzed, the median age decreased from 3 years (IQR, 0–5 years) before the pandemic to 1 year (IQR, 0–5 years) during the pandemic. While the overall increase in hospital length of stay during the pandemic was not statistically significant, a significant prolongation was observed in preschool-aged children and neonates without trauma (20 days vs. 9 days; p < 0.05). The lack of specialist physicians became an increasingly prominent factor for EAMT during the pandemic (p = 0.056). The most common medical reasons for EAMT were critical illness (35%), neonatal diseases (30%), and neurological conditions (27.5%), with similar distributions across both time periods. Conclusions: The COVID-19 pandemic heightened existing healthcare disparities in the Penghu Islands, particularly by increasing reliance on EAMT due to a shortage of pediatric specialists. Hospital stays for preschool children and neonates significantly increased during the pandemic, suggesting delayed or prolonged care. These findings underscore the need to strengthen local pediatric infrastructure, decentralize specialist services, and improve emergency preparedness to better support vulnerable populations in remote areas during future public health emergencies.