Musculoskeletal injections for palliative treatment of neuromuscular hip dysplasia patients: how I do it.

This review describes our institution's standardized technique as well as potential pitfalls for therapeutic steroid injections in children with symptomatic neuromuscular hip dysplasia. Symptomatic, painful neuromuscular hip dysplasia can dramatically affect quality of life. Steroid injections are used to identify the source of perceived pain, temporarily treat pain while awaiting surgical intervention, or for therapeutic management for nonoperative hip joints.

Gartland classification concordance of supracondylar fractures among pediatric emergency medicine physicians, radiologists, and orthopedic surgeons.

BACKGROUND: The modified Gartland classification is the most widely accepted grading method of supracondylar humeral fractures among orthopedic surgeons and is relevant to identifying fractures that may require surgery. OBJECTIVE: To assess the interobserver reliability of the modified Gartland classification among pediatric radiologists, pediatric orthopedic surgeons, and pediatric emergency medicine physicians. MATERIALS AND METHODS: Elbow radiographs for 100 children with supracondylar humeral fractures were retrospectively independently graded by two pediatric radiologists, two pediatric orthopedic surgeons, and two pediatric emergency medicine physicians using the modified Gartland classification. A third grader of the same subspecialty served as a tie-breaker as needed to reach consensus. Readers were blinded to one another and to the medical record. The modified Gartland grade documented in the medical record by the treating orthopedic provider was used as the reference standard. Interobserver agreement was assessed using kappa statistics. RESULTS: There was substantial interobserver agreement (kappa = 0.77 [95% CI, 0.69-0.85]) on consensus fracture grade between the three subspecialties. Similarly, when discriminating between Gartland type I and higher fracture grades, there was substantial interobserver agreement between specialties (kappa = 0.77 [95% CI, 0.66-0.89]). The grade assigned by pediatric radiologists differed from the reference standard on 15 occasions, pediatric emergency medicine differed on 19 occasions, and pediatric orthopedics differed on 9 occasions. CONCLUSION: The modified Gartland classification for supracondylar humeral fractures is reproducible among pediatric emergency medicine physicians, radiologists, and orthopedic surgeons.

Evaluating Chat Generative Pre-trained Transformer Responses to Common Pediatric In-toeing Questions.

OBJECTIVE: Chat generative pre-trained transformer (ChatGPT) has garnered attention in health care for its potential to reshape patient interactions. As patients increasingly rely on artificial intelligence platforms, concerns about information accuracy arise. In-toeing, a common lower extremity variation, often leads to pediatric orthopaedic referrals despite observation being the primary treatment. Our study aims to assess ChatGPT's responses to pediatric in-toeing questions, contributing to discussions on health care innovation and technology in patient education. METHODS: We compiled a list of 34 common in-toeing questions from the "Frequently Asked Questions" sections of 9 health care-affiliated websites, identifying 25 as the most encountered. On January 17, 2024, we queried ChatGPT 3.5 in separate sessions and recorded the responses. These 25 questions were posed again on January 21, 2024, to assess its reproducibility. Two pediatric orthopaedic surgeons evaluated responses using a scale of "excellent (no clarification)" to "unsatisfactory (substantial clarification)." Average ratings were used when evaluators' grades were within one level of each other. In discordant cases, the senior author provided a decisive rating. RESULTS: We found 46% of ChatGPT responses were "excellent" and 44% "satisfactory (minimal clarification)." In addition, 8% of cases were "satisfactory (moderate clarification)" and 2% were "unsatisfactory." Questions had appropriate readability, with an average Flesch-Kincaid Grade Level of 4.9 (±2.1). However, ChatGPT's responses were at a collegiate level, averaging 12.7 (±1.4). No significant differences in ratings were observed between question topics. Furthermore, ChatGPT exhibited moderate consistency after repeated queries, evidenced by a Spearman rho coefficient of 0.55 (P = 0.005). The chatbot appropriately described in-toeing as normal or spontaneously resolving in 62% of responses and consistently recommended evaluation by a health care provider in 100%. CONCLUSION: The chatbot presented a serviceable, though not perfect, representation of the diagnosis and management of pediatric in-toeing while demonstrating a moderate level of reproducibility in its responses. ChatGPT's utility could be enhanced by improving readability and consistency and incorporating evidence-based guidelines. LEVEL OF EVIDENCE: Level IV-diagnostic.

PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.

The p-21-activated kinase 1 (PAK1) protein, encoded by the PAK1 gene, is an evolutionarily conserved serine/threonine-protein kinase that regulates key cellular developmental processes. To date, seven de novo PAK1 variants have been reported to cause the Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay (IDDMSSD). In addition to the namesake features, other common characteristics include structural brain anomalies, delayed development, hypotonia, and dysmorphic features. Here, we report a de novo PAK1 NM_002576.5: c.1409 T > A variant (p.Leu470Gln) identified by trio genome sequencing (GS) in a 13-year-old boy with postnatal macrocephaly, obstructive hydrocephalus, medically refractory epilepsy, spastic quadriplegia, white matter hyperintensities, profound developmental disabilities, and a horseshoe kidney. This is the first recurrently affected residue identified in the protein kinase domain. Combined assessment of the eight pathogenic PAK1 missense variants reveal that the variants cluster in either the protein kinase or autoregulatory domains. Although interpretation of the phenotypic spectrum is limited by the sample size, neuroanatomical alterations were found more often in individuals with PAK1 variants in the autoregulatory domain. In contrast, non-neurological comorbidities were found more often in individuals with PAK1 variants in the protein kinase domain. Together, these findings expand the clinical spectrum of PAK1-associated IDDMSSD and reveal potential correlations with the affected protein domains.

Project ECHO telementoring program in epilepsy for school nurses.

OBJECTIVES: Many children with epilepsy experience seizures at school. School nurses must have the clinical expertise to deliver high-quality, safe care for students with epilepsy. However, in some regions of the U.S. access to interactive, epilepsy evidence-based education programs is limited. The objective of this project was to assess the feasibility of adapting the Epilepsy Foundation's (EFs) school nurse education program to the ECHO model and evaluate its impact on school nurse knowledge and self-efficacy in managing epilepsy in students with seizures and program satisfaction. METHODS: The EFs educational program for school nurses was adapted to the ECHO model and delivered by a team of interdisciplinary epilepsy specialists via videoconferencing. Retrospective post-program surveys were administered at program completion. Data from 32 participants with complete post-program surveys were used for the analysis of knowledge and confidence. Descriptive statistics and the sign test were conducted. RESULTS: Participants were 166 school nurses from 13 states. The majority had > 15 years of school nurse experience and served schools in suburban or rural areas. Improvements in knowledge and confidence were reported on most survey items. The highest improvements in self-reported knowledge and confidence were in psychosocial aspects of care, comorbidities, and recognition of nonepileptic events. Program satisfaction was rated as high by over 90% of participants. CONCLUSIONS: Telementoring using the ECHO methodology is a feasible modality to educate and link epilepsy specialists and providers with school nurses nationwide. Findings suggest that attending the MSS ECHO provided an educational and meaningful learning experience. The gains in knowledge and confidence in psychosocial aspects of epilepsy care and comorbidities highlight the importance of the inclusion of this content in educational programs.

Parents voice their experiences of caring for children with special healthcare needs amid the COVID-19 pandemic.

PURPOSE: The purpose of this study was to understand the experiences of parents and caregivers of children with special healthcare needs during the COVID-19 pandemic. DESIGN AND METHODS: In this descriptive phenomenological study, the researchers used purposive and snowball sampling to recruit nineteen participants, ranging in age from 21 to 55 years of age until saturation was established. Colaizzi's method guided data analysis. Iterative examination of the interview transcripts, an audit trail, bracketing, and validation of findings with a subset of participants established trustworthiness. RESULTS: Navigating the COVID-19 Pandemic was the overarching theme. Four major themes emerged under Navigating the COVID-19 Pandemic as follows: Disruptions in Daily Life, Shifts in Daily Life, Innovations in Daily Life, and Surprising Silver Linings. CONCLUSION: This study elucidated an in-depth understanding of the positive and negative impacts of the pandemic on the lives of families living with a child with special needs. The COVID-19 pandemic profoundly affected families and parenting approaches. Parents of children with special healthcare needs in this study found day-to-day living especially difficult in similar and unique ways. For virtually all parents the pandemic added new challenges in meeting their child's physical, mental, social, and educational needs. Parents and caregivers revealed innovative ways of maintaining a sense of normalcy during the height of the pandemic. PRACTICE IMPLICATIONS: These findings demonstrate the importance of developing interventions and creating public health policies as we move beyond the current pandemic and plan for potential outbreaks in the future.

Gastrointestinal Health Questionnaire for Rett Syndrome: Tool Development.

OBJECTIVES: We report the development and validation of a tool to assess gastrointestinal health in Rett syndrome (RTT). We hypothesized that the Gastrointestinal Health Questionnaire (GHQ) is a valid clinical outcomes measure of gastrointestinal health in RTT. PATIENTS AND METHODS: We used parent interviews, surveys, and literature review to generate a questionnaire related to gastrointestinal health and function, mood and behaviors, and parental concerns for individuals with RTT. Parents of affected and unaffected individuals provided responses to the GHQ, assessed the relevance and importance of statements, and completed 5 surveys related to gastrointestinal health, child-related mood and behaviors, and parent concerns. We used multivariate item analysis, 2-sample t tests, and correlations to assess the validity of the GHQ. RESULTS: We documented acceptable internal consistency of statements related to gastrointestinal health and function (Cronbach-α = 0.91), RTT-related mood and behaviors (Cronbach-α = 0.89), and parent concerns (Cronbach-α = 0.95) in the GHQ. We documented favorable external validity based on differences in response scores between parents of affected and unaffected individuals (P < 0.001) and correlations in parental response scores between the GHQ and 5 validated questionnaires addressing similar issues (P < 0.001). CONCLUSION: The GHQ is a valid tool for the assessment of gastrointestinal health in RTT and offers the opportunity to field test the safety and efficacy of novel drug therapies in clinical trials for individuals affected with this disorder.

A School Nurse-Led Asthma Intervention for School-Age Children: A Randomized Control Trial to Improve Self-Management.

Asthma is a common disease in children, and obtaining basic knowledge and skills to manage asthma symptoms is critically important. This study examined the effectiveness of a theoretically based school nurse-led asthma intervention on asthma symptoms, self-management, peak flow meter usage, daily activities, and school absences in children 7-12 years old. A randomized controlled, two-group, repeated measures design was conducted in eight public schools. Data collection occurred at three time points. The treatment group had statistically significant differences in reported symptoms (p < .001), asthma control with a peak flow meter usage (p < .001), and daily activities (p < .001) at 6 weeks and at 12 weeks. Although difference in school absences was not statistically significant, the treatment group missed fewer school days than the control group. Self-management is a complex process, and school nurses can provide essential learning steps and continuity of care for school-age children living with asthma.

Self-management interventions in pediatric epilepsy: What is the level of evidence?

OBJECTIVE: To respond to recommendations put forth by the Institute of Medicine to improve self-management resources for youth with epilepsy by conducting a systematic review of the self-management literature in pediatric epilepsy. METHODS: Inclusion criteria: youth birth to 18 years with a seizure disorder or an epilepsy diagnosis and/or their caregivers, published 1985-2014 in English, and conducted in countries with a very high human development index. Abstract and keywords had to explicitly refer to "self-care" (pre-1996) and/or self-management (post-1996). The review was conducted in seven phases: (1) identification of bibliographical search criteria and databases; (2) abstract assessment; (3) full article review; (4) organization of final citations into instrument development, intervention, factors associated with self-management categories; (5) American Academy of Neurology level of evidence (LOE) assessment for intervention studies; (6) CONsolidated Standards of Reporting Trials (CONSORT) evaluation of LOE level III articles utilizing a control group; and (7) categorization of intervention outcomes across four self-management domains. RESULTS: Of the 87 articles that met eligibility criteria, 24 were interventions and received LOE scores of level III or IV. Most studies (n = 20, 80%) were scored at level III; however, only eight had a control group and adhered to CONSORT guidelines. They largely neglected information on intervention components (e.g., implementation, treatment fidelity), randomization, participant flow, missing data, and effect size or confidence intervals. The 24 intervention studies reported significant impact in four domains: individual (n = 13), family (n = 6), health care system (n = 3), and community (n = 2). SIGNIFICANCE: There are no level I or II studies. No study met full CONSORT guidelines. Outcomes were well described; however, the nature of self-management interventions (e.g., multiple foci, skills targeted) and the observed heterogeneity in outcomes complicates comparisons across studies. Randomized controlled trials (RCTs) that include large sample sizes, impact of the intervention, treatment fidelity, and power analyses are necessary to further this evidence base.

Hypokalemia-Induced Life-Threatening Arrhythmia in a Patient With Congestive Heart Failure.

Ventricular tachyarrhythmias are common in patients with heart failure. It is one of the important preventable causes of death in these patient populations. Hypokalemia is prevalent in patients with heart failure due to various reasons. Hypokalemia can trigger ventricular arrhythmias through different mechanisms. In this case report, we present a middle-aged man with congestive heart failure (CHF) and an automated intracardiac defibrillator (AICD) on multiple diuretic medications (unintended) who presented with acute chest pain. He was found to have severe hypokalemia, hyponatremia, and an acute kidney injury. Interrogation of the AICD revealed multiple episodes of ventricular fibrillation. The patient was managed by holding his diuretic medications, cautious volume repletion, and potassium replacement. Fortunately, the patient showed rapid clinical improvement and his plasma potassium level improved. On discharge, we reconciled the patient's medications to avoid the recurrence of hypokalemia from over-diuresis and arranged a close follow-up outpatient visit with his cardiologist.

ECHO Telementoring Applied to Managing Students With Seizures: The Benefits for School Nurses.

Project ECHO (Extension for Community Healthcare Outcomes) is an evidence-based telementoring approach to connect often siloed school nurses with a network of expert clinical and academic faculty, as well as school nurse colleagues throughout the country by engaging in case-based learning. Managing Students with Seizures ECHO: The Importance of School Nurses (MSwS ECHO) provided two cohorts of school nurses with an interactive, bidirectional educational program focused on various aspects of seizures and epilepsy relevant to school nurse practice. MSwS ECHO enhanced school nurses' confidence in caring and advocating for students with seizures and epilepsy, expanded school nurses' access to resources and professional networks, and provided the opportunity to collaborate with experts and colleagues to problem solve challenging real-life cases. The ECHO Model is a unique and effective teaching modality that can be applied to a variety of school health topics and chronic conditions. School nurses are encouraged to participate in forthcoming ECHO-based learning opportunities.

Parental experiences transitioning their adolescent with epilepsy and cognitive impairments to adult health care.

INTRODUCTION: The objective of this study was to explicate processes that parents of adolescents with epilepsy and cognitive impairments undergo as they help their adolescents transition to adult health care. METHOD: A qualitative grounded theory methodology was used in this study. Theoretical sampling techniques were used to recruit seven ethnically diverse parents of adolescents 18 years or older with epilepsy and cognitive impairments from the community in a large metropolitan area in the southern United States. Data collection and analysis occurred simultaneously using coding and constant comparison analysis. RESULTS: The substantive theory Journey of Advocacy was developed from interviewing the participants. The theory has five categories: crisis sparks transition, parents in turmoil, parents as advocates, web of information, and captive waiting. Parents emerged as strong advocates in the transition process. DISCUSSION: Transitioning this group of adolescents to adult health care was an unplanned, complex, multisystem process. This study affirms the need to develop a transition program that acknowledges the unique challenges of transitioning adolescents with cognitive impairments and the interrelationship between these parents and other systems.

Rufinamide for refractory epilepsy in a pediatric and young adult population.

This chart review investigated the efficacy and safety of rufinamide in 45 children and young adults who experienced a broad spectrum of partial and generalized seizure/epilepsy types which have been refractory to therapy. Of these patients, 19 (46%) achieved a >50% decrease in seizure frequency on rufinamide, and 7 patients achieved a >75% decrease in seizure frequency. While 17 (37.8%) patients stopped their trial of rufinamide prior to the end of the review period, only 2 (4.4%) were due to adverse effects. Although additional research must be done, this data shows promise that rufinamide is a safe and efficacious adjunct for cases of refractory epilepsy.

A study of the treatment of Rett syndrome with folate and betaine.

We tested the hypothesis that increasing methyl-group pools might promote transcriptional repression by other methyl-binding proteins or by mutant methyl-CpG-binding protein 2 with altered affinity, ameliorating the clinical features of Rett syndrome. A 12-month, double-blind, placebo-controlled folate-betaine trial enrolled 73 methylCpG-binding protein 2 mutation positive female participants meeting consensus criteria for Rett syndrome. Participants were randomized as young (< age 5 years) or old (>or= age 5 years). Structured clinical assessments occurred at baseline, 3, 6, and 12 months. Primary outcome measures included quantitative evaluation of breathing and hand movements during wakefulness, growth, anthropometry, motor/behavioral function, and qualitative evaluations from electroencephalograms and parent questionnaires. In all, 68 participants completed the study. Objective evidence of improvement was not found. Subjective improvement from parent questionnaires was noted for the <5 years group. This study should inform future treatment trials regarding balancing participants with specific mutations and comparable severity to minimize selection bias.

Vagus nerve stimulation for treatment of epilepsy in Rett syndrome.

This case series presents the outcomes of seven females with Rett syndrome and medically refractory epilepsy who were treated with adjunctive vagus nerve stimulation (VNS) therapy for a minimum of 12 months. Patients ranged in age from 1 to 14 years (median age 9 y) at the time of implantation, had experienced seizures for a median period of approximately 6 years, and had failed at least two trials of antiepileptic drugs before receiving VNS. The median number of seizures per month was 150 (range 12-3600). At 12 months, six females had >or=50% reduction in seizure frequency. VNS was safe and well tolerated, with no surgical complications and no patients requiring explantation of the device. Quality of life outcomes of note among these patients included reports at 12 months of increased alertness among all seven patients. No change in mood or communication abilities was noted.

Fractional calcium absorption is increased in girls with Rett syndrome.

BACKGROUND: Rett syndrome (RTT), an X-linked neurodevelopmental disorder primarilyaffecting girls, is characterized in part by osteopenia and increased risk of skeletal fractures. We hypothesized that decreased intestinal calcium (Ca) absorption relative to dietary Ca intake and increased renal Ca excretion might cause these problems in RTT. OBJECTIVE: We measured fractional Ca absorption, urinary Ca loss, dietary Ca intake, and the hormonal factors regulating Ca metabolism to determine whether abnormalities in Ca balance might relate to poor bone mineralization in RTT girls and to evaluate the contribution of these factors to the overall dietary Ca needs of RTT girls. STUDY DESIGN: Ten RTT girls and 10 controls, matched for age, sex, and pubertal status, were given a 3 day constant Ca diet that mimicked their habitual intakes. At the end of each dietary period, girls received single doses of Ca (intravenous) and Ca (oral). Fractional urinary excretion of Ca, Ca, 24 hour urinary Ca, and urinary cortisol excretion were determined. Serum Ca, phosphorous, alkaline phosphatase, vitamin D metabolites, parathyroid hormone (PTH), and osteocalcin were measured in the postabsorptive state. Bone mineral content (BMC) was measured by dual-energy x-ray absorptiometry. RESULTS: Fractional Ca absorption was significantly higher in RTT than in control girls (mean +/- SDp, 52 vs. 33 +/- 13%). Dietary Ca intake (mean +/- SDp, 1,100 vs. 1,446 +/- 440 g/d) and net Ca absorption (mean +/- SDp, 513 vs. 362 +/- 306 mg/d) did not differ significantly between RTT and controls, respectively. Although urinary Ca excretion did not differ between groups, the increased urinary Ca:creatinine ratio (mean +/- SDp, 0.39 vs. 0.23 +/- 0.38) was consistent with clinical hypercalcuria and paralleled the significantly increased urinary cortisol excretion (mean +/- SDp, 3.1 vs. 1.7 +/- 1.1 mg/kg lean body mass per day) in the RTT girls. BMC was significantly lower in RTT than in controls (mean +/- SDp, 527 vs. 860 +/- 275 g). Serum Ca, P, alkaline phosphatase, vitamin D metabolites, PTH, and osteocalcin concentrations did not differ between the groups. CONCLUSION: Fractional Ca absorption showed a compensatory increase in the presence of adequate dietary Ca intakes, mild hypercalcuria, and pronounced bone mineral deficits in RTT girls. Whether supplemental dietary Ca could enhance fractional Ca absorption and improve bone mineralization in RTT girls is unknown.

Growth characteristics of children with ectodermal dysplasia syndromes.

OBJECTIVE: Clinical observations suggested that growth abnormalities may be present in children with ectodermal dysplasia (ED) syndromes. This study characterizes the longitudinal pattern of growth in a cohort of children with the ED syndromes. We hypothesized that (1) linear and ponderal growth abnormalities are present in children with ED from infancy through adolescence, and (2) linear and ponderal growth abnormalities differ among the clinical variants of these disorders. METHODS: We studied 138 children who had ED and were registered with the National Foundation for Ectodermal Dysplasias, 74% of whom had clinical features consistent with the hypohidrotic EDs (HEDs). Height (or length) and weight measurements were obtained by standardized techniques and from review of available medical records. We converted these measurements to weight-for-height (children younger than 5 years and <103 cm in length) or BMI (children > or =2 years old). Height, weight, weight-for-height, and BMI were converted to age- and gender-specific z scores. We applied linear regression, 1-sample t tests, and analysis of variance to detect linear and ponderal growth abnormalities in children with ED compared with a reference population. RESULTS: Mean weight-for-age, weight-for-height, and BMI-for-age z scores but not height-for-age z score, were significantly lower in children with the ED syndromes than in the reference population. Mean weight-for-age and weight-for-height z scores but not BMI-for-age or height-for-age z scores increased significantly with increasing age. The mean height-for-age z score of children with the ED syndromes other than the HEDs was significantly lower than that of children with the HEDs. CONCLUSIONS: Growth abnormalities, measured as weight deficits, were present at an early age in children with the ED syndromes and persisted through adolescence. Height deficits were seen only in children with ED syndromes other than HEDs. Clinicians should evaluate carefully children with ED syndromes for growth abnormalities.