Disorders In Pediatric Patients Research Articles

Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients

BackgroundMuscular dystrophies and congenital myopathies encompass various inherited muscular disorders that present diagnostic challenges due to clinical complexity and genetic heterogeneity.MethodsThis study aimed to investigate the use of whole exome sequencing (WES) in diagnosing muscular disorders in pediatric patients in Taiwan. Out of 161 pediatric patients suspected to have genetic/inherited myopathies, 115 received a molecular diagnosis through conventional tests, single gene testing, and gene panels. The remaining 46 patients were divided into three groups: Group 1 (multiplex ligation-dependent probe amplification–negative Duchenne muscular dystrophy) with three patients (6.5%), Group 2 (various forms of muscular dystrophies) with 21 patients (45.7%), and Group 3 (congenital myopathies) with 22 patients (47.8%).ResultsWES analysis of these groups found pathogenic variants in 100.0% (3/3), 57.1% (12/21), and 68.2% (15/22) of patients in Groups 1 to 3, respectively. WES had a diagnostic yield of 65.2% (30 patients out of 46), detecting 30 pathogenic or potentially pathogenic variants across 28 genes.ConclusionWES enables the diagnosis of rare diseases with symptoms and characteristics similar to congenital myopathies and muscular dystrophies, such as muscle weakness. Consequently, this approach facilitates targeted therapy implementation and appropriate genetic counseling.

Probiotic formulations and gastro-intestinal diseases in the paediatric population: a narrative review.

Probiotics are live microbial supplements that improve the microbial balance in the host animal when administered in adequate amounts. They play an important role in relieving symptoms of many diseases associated with gastrointestinal tract, for example, in necrotizing enterocolitis (NEC), antibiotic-associated diarrhea, relapsing Clostridium difficile colitis, Helicobacter pylori infections, and inflammatory bowel disease (IBD). In this narrative review, the authors aim to evaluate the role of different probiotic formulations in treating gastrointestinal diseases in pediatric population aged 18 years or younger and highlight the main considerations for selecting probiotic formulations for use in this population. The authors searched PubMed and Clinicaltrials.gov from inception to 24th July 2022, without any restrictions. Using an iterative process, the authors subsequently added papers through hand-searching citations contained within retrieved articles and relevant systematic reviews and meta-analyses. The effectiveness of single-organism and composite probiotics in treating gastrointestinal disorders in pediatric patients aged 18 or under were analyzed and compared in this study. A total of 39 studies were reviewed and categorized based on positive and negative outcomes, and compared with a placebo, resulting in 25 studies for single-organism and 14 studies for composite probiotics. Gastrointestinal disorders studied included NEC, acute gastroenteritis (AGE), Acute Diarrhea, Ulcerative Colitis (UC), and others. The results show that probiotics are effective in treating various gastrointestinal disorders in children under 18, with single-organism probiotics demonstrating significant positive outcomes in most studies, and composite probiotics showing positive outcomes in all studies analyzed, with a low incidence of negative outcomes for both types. This study concludes that single-organism and composite probiotics are effective complementary therapies for treating gastrointestinal disorders in the pediatric population. Hence, healthcare professionals should consider using probiotics in standard treatment regimens, and educating guardians can enhance the benefits of probiotic therapy. Further research is recommended to identify the optimal strains and dosages for specific conditions and demographics. The integration of probiotics in clinical practice and ongoing research can contribute to reducing the incidence and severity of gastrointestinal disorders in pediatric patients.

1045 Sleep Disorders in Pediatric Patients with Agenesis of the Corpus Callosum

1045 Sleep Disorders in Pediatric Patients with Agenesis of the Corpus Callosum

Oxidative Imbalance in Pediatric Anxiety Disorders: A Preliminary Comparative Study.

Background It is important to determine the possible related factors of anxiety disorder, one of the common psychiatric disorders of childhood. Our aims in this study were to compare oxidative stress markers between anxiety disorders in pediatric patients and healthy controls and to examine the relationship between anxiety symptom severity and oxidative stress indicators. Methods The study included 25 patients and 25 healthy controls. We measured the total oxidant capacity (TOS) and total antioxidant capacity (TAS) from the collected serum samples and calculated the oxidative stress index (OSI). We evaluated the clinical severity of the anxiety symptoms by the Revised Child Anxiety and Depression Scale-Child Version (RCADS-CV). Results The groups did not exhibit a noteworthy distinction in terms of TOS (p=0.128) and TAS (p=0.329). However, OSI was markedly elevated in the group with anxiety disorder (p=0.044). In the correlation analysis between anxiety symptom severity and oxidative stress indicators in the group with anxiety disorder, we found a positive correlation between TOS and RCADS total anxiety score (p=0.08). Conclusion These results may point to an oxidative dysfunction in anxiety disorders and the potential role of oxidative stress in their aetiology. Prospective, large-scale, randomized studies are needed to investigate if oxidative stress indicators can be used in the diagnosis of anxiety disorders and as new treatment targets.

New Approaches to the Management of Cardiovascular Risk Associated with Sleep Respiratory Disorders in Pediatric Patients.

Exposure to risk factors in youth can exacerbate the development of future cardiovascular disease (CVD). Obstructive sleep apnea (OSA), characterized by repetitive episodes of airway obstructions, could trigger said CVD acting as a modifiable risk factor. Measurements from echocardiography have shown impairments in the anatomy and function of the heart related to the severity of OSA. Therefore, the aim of this review was to propose a new clinical approach to the management of cardiovascular risk (CVR) in children based on treating OSA. The review includes studies assessing echocardiographic parameters for cardiac function and structure in pediatric OSA diagnosed using the apnea-hypopnea index (AHI) ≥ 1/h using polysomnography (PSG) and conducted within a year. Based on the reviewed evidence, in addition to PSG, echocardiography should be considered in OSA children in order to indicate the need for treatment and to reduce their future CVR. A follow-up echocardiography after treatment could be performed if impairments in the anatomy and function were found. Prioritizing parameters intimately connected to comorbidity could propel more effective patient-centered care. In conclusion, a reevaluation of pediatric OSA strategies should be considered, emphasizing comorbidity-related parameters in the cardiovascular field. Further studies are needed to assess this approach, potentially leading to enhanced protocols for more effective pediatric OSA treatment and CVR prevention.

Diagnosing Autism Spectrum Disorder in Pediatric Patients via Gait Analysis using ANN and SVM with Electromyography Signals

Diagnosing Autism Spectrum Disorder in Pediatric Patients via Gait Analysis using ANN and SVM with Electromyography Signals

Wound healing and postoperative management in paediatric patients following 27-Gauge Transconjunctival Sutureless Vitrectomy for vitreoretinal conditions.

The utilization of 27-G TSV, or 27-Gauge Transconjunctival Sutureless Vitrectomy, poses distinct difficulties in the context of paediatric patients, particularly those younger than 14 years old, on account of the dearth of exhaustive documentation concerning the efficacy and results of these operations. Therefore, this retrospective study was to evaluate the safety and efficacy of 27-G TSV in paediatric patients, with emphasis on management of intraoperative and postoperative complications and postoperative wound healing. A total of 54 eyes of 52 paediatric patients who underwent 27-G TSV at Sichuan Provincial People's Hospital were included in the study. The average duration of follow-up was 9.32 ± 3.35 months. The complication with the highest incidence rate was Rhegmatogenous Retinal Detachment (RRD), which was detected in 27.8% cases. Familial Exudative Vitreoretinopathy (FEVR) and Persistent Fetal Vasculature (PFV) each accounted for 16.7% of the cases. Retinopathy of Prematurity (ROP) and Vitreous Haemorrhage (VH) constituted 11.1% and 14.8%, respectively, of the reported cases. Lens injury (1.9%), cannula slippage (7.4%) and wound leakage (5.6%) were intraoperative complications. Iatrogenic retinal detachment occurred at 3.7%. Hypotony (10.8% of patients), vitreous haemorrhage (9.3%), cataract formation (9.3%), ocular hypertension (8.1%) and retinal detachment (5.6%) were postoperative complications. Effective management strategies were executed, such as performing in situ trocar puncture to address cannula slippage and promptly suturing to address wound leakage. 27-G TSV exhibited promise as the therapeutic alternative for range of vitreoretinal disorders in paediatric patients, accompanied by complications that were controllable during and after the procedure. Strict preoperative planning and precise surgical technique are indispensable in order to maximize patient outcomes and guarantee effective wound healing and recovery within this particular demographic.

Review of the targeting accuracy of frameless and frame-based robot-assisted deep brain stimulation electrode implantation in pediatric patients using the Neurolocate module.

The Neurolocate module is a 3D frameless patient registration module that is designed for use with the Neuromate stereotactic robot. Long-term electrical stimulation of the globus pallidus internus (GPi) and subthalamic nucleus (STN) via deep brain electrode implantation is particularly successful in a select group of movement disorders in pediatric patients. This study aimed to review the targeting accuracy of deep brain stimulation (DBS) electrode implantation in a single center, comparing standard frame-based techniques to the frameless Neurolocate module. Twenty-four pediatric patients underwent implantation of bilateral DBS electrodes under general anesthesia during the period of August 2018-August 2022. All patients underwent robot-assisted stereotactic implantation of DBS electrodes using an intraoperative O-arm 3D scanner to confirm the final electrode position. These coordinates were compared with the planned entry and target, with attention to depth, radial, directional, and absolute errors, in addition to Euclidean distance (ED). The primary outcome evaluated the accuracy and safety of the Neurolocate frameless technology compared with standard frame-based techniques. Of the 24 bilateral DBS electrode implantations performed, 62.5% used Neurolocate technology: 87.5% were delivered to the GPi and the remaining 12.5% to the STN. The mean patient age was 11.0 (range 4-18) years and 70.8% were male. The median absolute errors in x-, y-, and z-axes were 0.35, 0.75, and 0.9 mm, respectively, using the Neurolocate module compared with 0.30, 0.95, and 1.1 mm using the standard frame-based technique. The median ED from the planned target to the actual electrode position with the Neurolocate module was 1.28 mm versus 1.69 mm using standard frame-based techniques. No major perioperative complications occurred. Stereotactic robot-assisted DBS implantation with the frameless Neurolocate module is safe for use in the pediatric population, showing good surgical accuracy and no inferiority to standard frame-based techniques. The Neurolocate module for robotic DBS surgery has the potential to improve surgical targeting accuracy, surgical time, patient comfort, and safety.

The Rehabilitation Interventions and Adaptive Technologies Used for Treating Patients With Cerebral Palsy.

Cerebral palsy (CP) is one of the most common disorders in pediatric patients. The prevalenceof CP is 2-3 in 1,000 live births, but various changes in some trends are seen in different groups. This article is asystematic review of multiplesources available for interventions and new adaptive techniques used for treating patients for their better lifestyles. Withrecent advancements, it is possible to diagnose achild who isbelow sixmonths to two years. For achievinggoals, proper interventions and techniques are necessary in the early stages of the disease. This article summarizes the rehabilitation and interventions availablefor treating these children with thebest procedures.

Risk of Anxiety, Depression, and Attention-Deficit/Hyperactivity Disorder in Pediatric Patients With Inflammatory Bowel Disease: A Population-Based Cohort Study.

Inflammatory bowel disease (IBD) is associated with depression and anxiety in adults, but data are scarce on risk of psychiatric diseases in children with IBD. We aimed to estimate the risk of anxiety, depression, or attention-deficit/hyperactivity disorder (ADHD) in patients with pediatric-onset IBD. We performed a nationwide, register-based cohort study including all patients with pediatric-onset IBD diagnosed in Denmark during 1998-2018, resulting in 3,559 patients matched 1:5 on age, sex, municipality of residence, and time period, resulting in 17,795 reference individuals. We used Cox regression to calculate hazard ratios for each outcome after a diagnosis with IBD. Patients with pediatric-onset IBD had an increased risk of depression (hazard ratio [HR] 1.50; 95% confidence interval [CI] 1.26-1.80) and of using antidepressants (HR, 1.54; 95% CI, 1.39-1.71) and, surprisingly, a reduced risk of using methylphenidate (HR, 0.75; 95% CI, 0.58-0.98). Patients with both IBD subtypes (Crohn's disease and ulcerative colitis) had an increased risk of using antidepressants and developing depression, which was particularly high in patients with Crohn's disease (HR, 1.73; 95% CI, 1.35-2.22). Patients with ulcerative colitis had reduced risk of using methylphenidate (HR, 0.63; 95% CI, 0.43-0.93) and a reduced-although not statistically significant-risk of being diagnosed with ADHD compared with the background population. Patients with pediatric-onset IBD have a 50% increased risk of developing depression, which is important for healthcare providers to be aware of and manage. Remarkably, we found a reduced risk of receiving methylphenidate and being diagnosed with ADHD, which merits further investigation.

Feeding difficulties and eating disorders in pediatric patients with cancer

Feeding difficulties and eating disorders in pediatric patients with cancer

Factors Associated with Age at Diagnosis of Autism Spectrum Disorder in Pediatric Patients at Sawanpracharak Hospital, Thailand

Objective: This study aimed to determine the average age at diagnosis and the characteristics associated with the age of children at the diagnosis of autism spectrum disorder (ASD) at Sawanpracharak Hospital. Materials and Methods: A retrospective cross-sectional study was conducted from May 2023 to July 2023. Data were collected from the medical patient files of all children diagnosed with ASD between 2020 to 2022. Descriptive analysis was used to examine the characteristics of the children and their caregivers, and the children’s age at diagnosis. Factors associated with the age at diagnosis were assessed by chi-square test analysis. Results: In total, 100 patient records with complete information were collected. The average age at the diagnosis of ASD was 4.57± 1.61 years old, with 60% of the patients diagnosed after four years of age. Social communication deficit symptoms, including non-response to name and lack of pointing out objects of interest, were significantly associated with an early ASD diagnosis (p-value = 0.023 and 0.002, respectively). Being a firstborn child and the presence of delayed development were found to delay the diagnosis of ASD meaning it occurred at a later age (p-value = 0.002 and 0.019, respectively). However, sex, the caregiver’s education, and socioeconomic status were not related to the age at diagnosis. Conclusion: Most children with ASD who received treatment at Sawanpracharak Hospital were diagnosed late. Being a firstborn child, poor response to name being called, lack of pointing out objects of interest, and delayed development were related to the age of the children at ASD diagnosis. Differences in diagnostic age based on sociodemographic and clinical characteristics indicate the need for coordinated measures for the early detection of ASD.

Update on gene therapies in pediatric ophthalmology

Rare eye diseases encompass a broad spectrum of genetic anomalies with or without additional extraocular manifestations. Genetic eye disorders in pediatric patients often lead to severe visual impairments. Therefore, a challenge of gene therapy is to provide better vision to these affected children. In recent years, inherited retinal diseases, inherited optic neuropathies, and corneal dystrophies have dominated discussions to establish gene and cell replacement therapies for these diseases. Gene therapy involves the transfer of genetic material to remove, replace, repair, or introduce a gene, or to overexpress a protein, whose activity would have a therapeutic impact. For the majority of anterior segment diseases, these studies are still emerging at a preclinical stage; however, for inherited retinal disorders, translation has been reached, leading to the introduction of the first gene therapies into clinical practice. In the past decade, the first gene therapy for biallelic RPE65-mediated inherited retinal dystrophy has been developed and the FDA and EMA both approved ocular gene therapy. Other promising approaches by intravitreal injection have been investigated such as in CEP290-Leber congenital amaurosis. Various techniques of gene therapies include gene supplementation, CRISPR-based genome editing, as well as RNA modulation and optogenetics. Optogenetic therapies deliver light-activated ion channels to surviving retinal cell types in order to restore photosensitivity. Beyond retinal function, ataluren, a nonsense mutation suppression therapy, enables ribosomal read-through of mRNA containing premature termination codons, resulting in the production of a full-length protein. An ophthalmic formulation was recently evaluated with the aim of repairing corneal damage, pending new clinical studies. However, various congenital disorders exhibit severe developmental defects or cell loss at birth, limiting the potential for viral gene therapy. Therefore mutation-independent strategies seem promising for maintaining the survival of photoreceptors or for restoring visual function. Restoring vision in children with gene therapy continues to be a challenge in ophthalmology. © 2023 Published by Elsevier Masson SAS on behalf of French Society of Pediatrics.

Macrophage-associated markers of metaflammation are linked to metabolic dysfunction in pediatric obesity

BackgpoundMetabolically driven chronic low-grade adipose tissue inflammation, so-called metaflammation, is a central feature in obesity. This inflammatory tone is largely driven by adipose tissue macrophages (ATM), which express pro- and anti-inflammatory markers and cytokines such as, e.g., IL-1 receptor antagonist (IL-1RA), CD163 and osteopontin (OPN). Metaflammation ultimately leads to the development of cardiometabolic diseases. This study aimed to evaluate the association between selected adipose tissue macrophage-associated markers and metabolic comorbidities in pediatric obesity. MethodsFrom a pediatric cohort with obesity (n = 108), clinically thoroughly characterized including diverse routine blood parameters, oral glucose tolerance test and liver MRI, plasma IL-1RA, soluble (s)CD163 and OPN were measured by ELISA. ResultsWe observed significantly higher IL-1RA, sCD163, and OPN levels in the plasma of children with metabolic-dysfunction associated fatty liver disease (MAFLD) and metabolic syndrome. Moreover, IL-1RA and sCD163 correlated with hepatic disease and apoptosis markers alanine aminotransferase and CK-18. IL-1RA concentrations additionally correlated with insulin resistance, while children with disturbed glucose metabolism had significantly higher levels of sCD163. ConclusionMAFLD and other metabolic disorders in pediatric patients with obesity are associated with an elevation of adipose tissue macrophage-related inflammation markers.

Relationship between disease activity index and sleep disorders in children with inflammatory bowel diseases.

The aim of the study was to assess the prevalence of sleep disturbance in pediatric IBD patients and evaluate the relationship between clinical features of IBD, disease activity, inflammatory markers and quality of sleep. A total of 99 patients who were followed-up with the diagnosis of IBD (44 Crohn's disease (CD), 55 Ulcerative colitis (UC)) between 2015-2020 and 80 healthy controls were enrolled in the study. The clinical and demographic characteristics, laboratory parameters and disease activities were obtained from medical reports retrospectively. Pittsburgh sleep quality index (PSQI) was administered to all participants. PSQI score was significantly higher in patient group than the control group (P < 0.001). The sleep time of patient group, especially patients with UC was later than the control group (P = 0.008). Sleep duration was longer in control group than the patient group (P < 0.001). A positive strong correlation was obtained in disease activity index (r = 0.886; P < 0.001) and abdominal pain (r = 0.781; P < 0.001) with PSQI scores of CD patients. Disease activity index, rectal bleeding, diarrhea and number of stool had statistically significant positive strong correlation with PSQI scores of UC patients (P < 0.001). Pediatric Crohn's disease activity index and Pediatric ulcerative colitis activity index were the only independent risk factors affecting sleep disturbances (80% sensitivity and 91.67% specificity, 93.1% sensitivity and %96.15 specificity, respectively). Conclusion: Increased disease activity has adverse effects on sleep quality. PSQI and PCDAI were strong tests for predicting sleep disorders in pediatric patients with IBD. What is Known: •Sleep disturbances are common complaint in inflammatory bowel disease (IBD), even in clinical remission. •Pittsburgh sleep quality index (PSQI) was used to evaluate the subjective sleep quality of patients. What is New: •PSQI and Pediatric Crohn Disease Activity index (PCDAI) were strong tests for predicting sleep disorders in pediatric patients with IBD. •PSQI and PCDAI scores correlated significantly with the severity of the sleep disturbances.

CO171 Mental Health and Sleep Disorders in Pediatric Patients with and without Atopic Dermatitis

To compare the difference in diagnosis frequencies of mental health and sleep disorders in pediatric patients with and without atopic dermatitis (AD).

The Effects of Congenital Heart Disease on the Development of Autism Spectrum Disorder in Pediatric Patients

It is a well-known fact that congenital heart disease (CHD) can cause life-long health complications, especially if it impairs other bodily functions early in life. One of these complications is the risk of developing a serious neurodevelopmental disorder known as autism spectrum disorder (AuSD). With some case studies identifying the linkage of CHD and AuSD, it has been successfully established that being diagnosed with CHD does increase a child’s chances of developing AuSD later in life. There is not a simple answer for why this occurs. However, there are several factors that can contribute to why CHD increases the risk of developing autism. Some possible explanations may include synthetic factors such as the alteration of blood flow in genetic pathways due to early cardiac surgery. These explanations can also include uncontrollable factors such as demographics, maternal conditions, and viral infections, all of which are just as likely as synthetic factors. This research, based on case studies conducted recently, further reinforces the conclusion that the diagnosis of certain lesions of CHD results in an elevated risk of developing AuSD.

Use of Thalamus L-Sign to Differentiate Periventricular Leukomalacia From Neurometabolic Disorders.

To assess the diagnostic value of the thalamus L-sign on magnetic resonance imaging (MRI) in distinguishing between periventricular leukomalacia and neurometabolic disorders in pediatric patients. In this retrospective study, clinical and imaging information was collected from 50 children with periventricular leukomalacia and 52 children with neurometabolic disorders. MRI was used to evaluate the L-sign of the thalamus (ie, injury to the posterolateral thalamus) and the lobar distribution of signal intensity changes. Age, sex, gestational age, and level of Gross Motor Function Classification System (only for periventricular leukomalacia) constituted the clinical parameters. Statistical evaluation of group differences for imaging and clinical variables were conducted using univariable statistical methods. The intra- and inter-observer agreement was evaluated using Cohen's kappa. Univariable or multivariable logistic regression was employed for selection of variables, determining independent predictors, and modeling. The thalamus L-sign was observed in 70% (35/50) of patients in the periventricular leukomalacia group, but in none of the patients with neurometabolic disorder (P < .001). The gestational age between groups varied significantly (P < .001). Involvement of frontal, parietal, and occipital lobes differed significantly between groups (P < .001). In the logistic regression, the best model included negative thalamus L-sign and gestational age, yielding an area under the curve, accuracy, sensitivity, specificity, and precision values of 0.995, 96.1%, 96%, 96.2%, and 96%, respectively. Both the lack of thalamus L-sign and gestational age were independent predictors (P < .001). The thalamus L-sign and gestational age may be useful in distinguishing between periventricular leukomalacia and neurometabolic disorders.

Educational Outcomes in Children and Adolescents With Type 1 Diabetes and Psychiatric Disorders

Research shows that children and adolescents with type 1 diabetes (T1D), compared with their peers without diabetes, have a greater risk of psychiatric disorders. However, no study has comprehensively examined whether having psychiatric disorders is associated with educational outcomes in children and adolescents with T1D. To investigate educational outcomes in children and adolescents with T1D with and without psychiatric disorders. This cohort study used data from multiple Swedish registers. The main study cohort included individuals born in Sweden between January 1, 1973, and December 31, 1997, who were followed up from birth through December 31, 2013. Data analyses were conducted from March 1 to June 30, 2022. Type 1 diabetes and psychiatric disorders (including neurodevelopmental disorders, depression, anxiety disorders, eating disorders, bipolar disorder, psychotic disorder, and substance misuse) diagnosed before 16 years of age. Achieving educational milestones (completing compulsory school [primary and lower secondary education], being eligible to and finishing upper secondary school, and starting and finishing university) and compulsory school performances. Of 2 454 862 individuals (51.3% male), 13 294 (0.5%; 53.9% male) were diagnosed with T1D (median [IQR] age at diagnosis, 9.5 [6.0-12.5] years), among whom 1012 (7.6%) also had at least 1 psychiatric disorder. Compared with healthy individuals (without T1D and psychiatric disorders), individuals with T1D alone had slightly lower odds of achieving the examined educational milestones. However, those with both T1D and any psychiatric disorder had much lower odds of achieving milestones, including completing compulsory school (odds ratio [OR], 0.17; 95% CI, 0.13-0.21), being eligible for (OR, 0.25; 95% CI, 0.21-0.30) and finishing (OR, 0.19; 95% CI, 0.14-0.26) upper secondary school, and starting (OR, 0.36; 95% CI, 0.29-0.46) and finishing (OR, 0.30; 95% CI, 0.20-0.47) university. They also showed lower grade point averages for compulsory school subjects. These findings remained similar in sibling comparison analyses, suggesting independence from familial confounding. In this cohort study of Swedish-born children and adolescents, those with T1D alone had minor difficulties with their educational outcomes, whereas those with both T1D and psychiatric disorders had universal long-term educational underachievement. These findings highlight the importance of identifying psychiatric disorders in pediatric patients with T1D and the need for targeted educational intervention and support to minimize the education gap between the affected children and their peers.

Assessing Bleeding Symptoms in Pediatric Patients With Generalized Joint Hypermobility.

To assess bleeding symptoms in patients with generalized/benign joint hypermobility (GJH), compare bleeding scores to healthy historical pediatric controls, and determine whether a correlation exists between Beighton scores and bleeding scores. Patients with GJH ages 6-21 years seen by the rheumatology department at Nationwide Children's Hospital in Columbus, Ohio were eligible. Participants/guardians completed the International Society on Thrombosis and Haemostasis Bleeding Assessment Tool, a validated questionnaire defining the presence, severity, and frequency of bleeding symptoms. Scores of ≥3 have been associated with an underlying bleeding disorder in pediatric patients. Eighty-one patients agreed to participate. The median age was 13 years (interquartile range 10-16 years), and the mean Beighton score was 6.3 (range 4-9). Commonly observed bleeding symptoms were oral bleeding (74%), easy bruising (59%), and bleeding with minor wounds (42%). Mean and median bleeding scores were 5.2 and 4, respectively, and were significantly higher than reported bleeding scores in pediatric controls, defined as those without bleeding symptoms or a previously diagnosed bleeding disorder (P < 0.001). Although 75% of patients (95% confidence interval 64-84) had an abnormal bleeding score, only 12.3% were previously assessed by hematology for bleeding symptoms. Among patients with GJH, higher Beighton scores were not associated with higher bleeding scores (Spearman's correlation -0.08). In a cohort of pediatric patients with GJH, three-fourths of participants had abnormal bleeding scores, with the mean bleeding score significantly elevated compared to healthy controls. We propose that screening for bleeding symptoms be integrated into routine care for GJH patients, with referral to hematology for patients with bleeding concerns.