Pediatrics最新文献

Background: The American Academy of Pediatrics recommends immediate referral of children screening at elevated likelihood of autism for diagnostic evaluation, early intervention, and audiology. However, most children screening at elevated autism likelihood are not referred. We aimed to synthesize decision-making processes related to generalist referrals to specialists for children with increased autism likelihood in the United States. We examined (i) rates of referral from generalist to specialist providers across medical and geographic settings, (ii) child/family factors that influence provider referrals, and (iii) facilitators and barriers to timely referral.

Methods: We searched PubMed, PsycINFO, and Embase for studies that discussed autism likelihood in young children, discussed generalist to specialist referral, used empirical methods, and were set in the United States. We extracted the setting, study design, referral rates, child and family factors associated with referrals, and facilitators and barriers to referral.

Results: A total of 38 articles were included. In studies with no intervention elements, providers refer children to evaluations and early intervention services at rates ranging from 20% to 58.4%. In intervention studies, referral rates ranged from 45% to 98% after intervention. Perceived symptom severity and greater caregiver concern were associated with increased referral rates. Barriers to referral included providers' lack of confidence in screening tools and lack of local diagnostic and intervention sites. Interventions to facilitate rates of referral varied widely in their characteristics and outcomes. This review was restricted to the United States and included few high-quality experimental interventions.

Conclusions: Increased research efforts should focus on increasing referral rates to early intervention, which is appropriate even for children with false positive results screening at elevated autism likelihood. Rigorous studies that optimize referral processes across providers and settings are needed.

We report a case of delayed acute liver injury (ALI) after treatment with delandistrogene moxeparvovec-rokl (DM), an adeno-associated virus-based gene therapy, in a 10-year-old ambulatory boy with Duchenne muscular dystrophy (DMD). The patient had a duplication of exons 8-11 in the DMD gene and was on chronic prednisone. He received prophylactic oral prednisone (1 mg/kg/d) starting 1 day before DM infusion. Baseline alanine aminotransferase (ALT), aspartate aminotransferase (AST), and creatine kinase (CK) levels were elevated, consistent with DMD. On day 34 after infusion, ALT and AST began to rise without gamma-glutamyl transpeptidase (GGT) elevation. By day 41, transaminases were more than 7× baseline with elevated GGT and bilirubin, prompting hospitalization. He was treated with intravenous methylprednisolone, increased oral prednisone, and sirolimus. Liver enzymes rapidly improved and returned to baseline by day 69. Immunologic studies revealed CD8+ T-cell activation and innate immune activation via mildly elevated IL-18 that normalized without additional immunosuppression. The patient remained clinically stable. Infectious workup, liver ultrasonogram, and coagulation studies were unremarkable. Notably, the ALT/CK ratio increased more than 10-fold 1  week before GGT elevation and before ALT exceeded the 95% CI predicted by a CK- and age-adjusted model, suggesting its potential as an early biomarker of liver injury in DMD. This case highlights the challenges of interpreting liver enzymes in DMD, the potential utility of the ALT/CK ratio for early detection of ALI, and the role of immunophenotyping in guiding immunosuppressive therapy. Early recognition and timely escalation, including use of sirolimus, may help mitigate serious liver toxicity after gene therapy.

Objective: Therapeutic hypothermia within 6 hours of birth is critical for newborns with hypoxic-ischemic encephalopathy (HIE) but is often delayed by transfers to appropriate facilities. Telemedicine (TM) based hypothermia evaluation could expedite these assessments. There is limited evidence on the efficacy of TM compared with the in-person (IP) Sarnat examination. In this study, we aim to compare the TM with the IP examination in infants with suspected HIE.

Methods: Newborns were enrolled from March 2022 to December 2023. All infants underwent IP and TM assessments using the modified Sarnat examination within 6 hours after birth. Data included neurologic examination scores for both IP and TM, decisions for hypothermia qualification, and TM technology metrics. Cohen's kappa statistic (κ) was used to measure the interrater agreement between IP and TM examination findings.

Results: 170 Sarnat assessments (IP and TM) were performed on 85 enrolled infants. The results show almost perfect agreement between IP and TM regarding signs of moderate or severe HIE (κ = 0.82) and the decision for hypothermia intervention (κ = 0.82). We report fair to moderate agreement (κ = 0.33-0.58) for individual categories of the neurologic examination. 93% of TM examinations were completed within 15 minutes, and 79% of the TM encounters had no technology issues.

Conclusions: This study compares IP and TM assessments in infants requiring hypothermia evaluation. Findings show that TM is feasible and not significantly different from IP for making hypothermia decisions in suspected HIE. This could enhance remote Sarnat evaluations and initiate earlier therapeutic interventions.

American Indian/Alaska Native (AIAN) children and adolescents are disproportionately affected by health inequities leading to chronic diseases beginning in childhood. Research with AIAN populations is needed to improve health outcomes of AIAN children and adolescents. This policy statement highlights the unique cultural and regulatory considerations of research with AIAN populations and tribal nations. Community-based participatory research is explored as an avenue to engage in research with AIAN communities. Recommendations for clinicians and researchers are provided to increase cultural humility and promote collaborative partnerships for research.

Objective: Black families often address police interaction safety with a conversation known as "The Talk." Previous academic literature centering the physician's perspective has proposed pediatrician involvement in anticipatory guidance on this topic. This study explores the views of Black teenage male individuals and their caregivers on pediatricians discussing safe police interactions as part of routine guidance and seeks to identify key factors for facilitating these discussions.

Methods: Semistructured interviews were conducted individually with Black male individuals aged 13 to 18 years and their caregivers. Participants were recruited from primary care well visits at an academic institution in west Philadelphia, Pennsylvania. Interviews were conducted virtually, recorded, and transcribed for analysis. Themes were validated by randomly selected participants of the study.

Results: A total of 47 participants, including 20 youth-caregiver dyads, completed interviews. Participants supported pediatrician involvement in anticipatory guidance for teenagers about navigating police encounters, emphasizing that conversations should seek to improve youth safety and reduce fear during police encounters. Interviewees felt that racial concordance with pediatricians was not essential if the discussion was compassionate and culturally sensitive. Caregivers expressed a desire to align pediatrician guidance with family teaching and child's social and cognitive development. Participants preferred one-on-one conversations with pediatricians to enhance receptivity.

Conclusions: Black teenage male individuals and their caregivers are open to pediatricians discussing police interactions as part of anticipatory guidance, emphasizing a tailored, sensitive approach. Further research is needed to investigate the perspectives of Black non-male youth and other populations disproportionately impacted by police violence.

Hemoptysis secondary to diffuse alveolar hemorrhage (DAH) is uncommon in children. When it does occur, extensive investigations are often required to determine the underlying cause. We present a unique case of a 17-year-old previously healthy male adolescent with a history of allergic rhinitis, who initially presented with pneumonia in the setting of influenza A. He subsequently developed DAH, prompting further diagnostic evaluations that ultimately revealed a rare condition with long-term morbidity.

Objectives: Children with medical complexity (CMC) are a growing population of pediatric patients with disabling multisystem conditions leading to reliance on medical devices and disposable supplies. These products are essential for CMC, but prior research has linked problems with home devices to emergency care and hospitalizations. We aimed to understand parent experiences with in-home devices and identify opportunities for improvement.

Methods: A cross-sectional qualitative study of English and Spanish-speaking parents of CMC was conducted using semistructured interviews. Parents could also opt to send pictures with descriptions of their children's home device use. Applied thematic analysis and content analysis were used to identify key themes and preferred design attributes.

Results: We conducted 17 semistructured interviews with parents of CMC. Eight parents submitted 97 total pictures. Five main themes emerged: (1) lack of communication and education about product availability; (2) frequent, major device design flaws, often with safety and health risks; (3) parents of CMC often addressed unmet device needs and flaws with improvised problem-solving strategies; (4) structural barriers reduce access to efficacious and high-quality in-home devices; and (5) parents of CMC value a variety of medical devices design attributes.

Conclusions: Parents of CMC reported that the current landscape of medical devices functionally available to CMC for life at home and in the community is inadequate. These findings raise concerns that medical device design flaws can pose safety risks and negatively impact the health of CMC. Future work should incorporate user input into tailoring both medical product design and coverage.