Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation.

Although neurologic symptoms occur in two-thirds of lysosomal storage disorders (LSDs), for most we do not understand the mechanisms underlying brain dysfunction. A major unanswered question is if the pathogenic hallmark of LSDs, storage accumulation, induces functional defects directly or is a disease bystander. Also, for most LSDs we do not know the impact of loss of function in individual cell types. Understanding these critical questions are essential to therapy development. Here, we determine the impact of genetic rescue in distinct cell types on neural circuit dysfunction in CLN3 disease, the most common pediatric dementia and a paradigmatic neurodegenerative LSD. We restored Cln3 expression via AAV-mediated gene delivery and conditional genetic rescue in a CLN3 disease mouse model. Surprisingly, we found that low-level rescue of Cln3 expression in neurons alone normalized clinically relevant electrophysiologic markers of network dysfunction, despite the presence of substantial residual histopathology, in contrast to restoring expression in astrocytes. Thus, loss of CLN3 function in neurons, not storage accumulation, underlies neurologic dysfunction in CLN3 disease. This impliesies that storage clearance may be an inappropriate target for therapy development and an ineffectual biomarker.

NC InCK: A Case Study in Whole-Child Care.

North Carolina Integrated Care for Kids (NC InCK) is a pilot health care delivery and payment model for Medicaid-enrolled children in five North Carolina counties. We describe early learnings from the NC InCK approach to promote the vision of whole-child health for children in North Carolina.

Caring for adolescents and young adults with attention-deficit/hyperactivity disorder in primary care: seizing opportunities to address youth mental health needs.

PURPOSE OF REVIEW: To provide primary care providers (PCPs) with updated practical guidance around the assessment and management of attention-deficit/hyperactivity disorder (ADHD) in adolescents and young adults (AYA). RECENT FINDINGS: Of the three different presentations of ADHD delineated in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), the Predominantly Inattentive presentation is the most common among AYA. Multiple rating scales exist to assist clinicians in identifying ADHD symptoms and monitoring treatment effects. Importantly, ADHD frequently persists into adulthood with negative impacts in many life domains if left untreated. It is important for PCPs to provide support for AYA as they transition to adulthood, as treatment adherence often drops sharply at that time, and, once treatment is discontinued, it is rarely restarted. Further, clinicians should be aware of the negative psychological, behavioral, and social impacts that COVID-19 has had on AYA with ADHD. SUMMARY: AYA with ADHD often seek care first from PCPs. However, diagnosis and management of ADHD among AYA are challenging, and many clinicians feel ill-equipped, creating concern that many youth may go undiagnosed and untreated. Despite these long-standing challenges, recent advances have opened up critical opportunities for PCPs to proactively address ADHD in primary care settings and make a profound impact on youth as they seek to realize their full potential.

Parent-to-parent peer support for children and youth with special health care needs: Preliminary evaluation of a family partner program in a healthcare system.

PURPOSE: Children and youth with special health care needs (CYSHCN) have complex care and coordination needs that are often managed by parents or primary caregivers. This study describes a parent-to-parent peer support pilot program for parents of CYSHCN implemented in both outpatient and inpatient settings across a large health system. DESIGN & METHODS: Retrospective data from the Family Partner Program documentation in patient health records are described. Descriptions about the encounters and types of support provided are also reviewed using qualitative descriptive analysis. RESULTS: Three Family Partners conducted 203 encounters with parents of 90 CYSHCN over six months. Family Partners provided both emotional and tangible support. Primary themes discussed included the persistent care, coordination and management needs related to parenting a child with complex care needs, the subsequent worry and stress about their child and family, and the need for stress management and self-care. CONCLUSION: This study provides early evidence that implementation of a parent-to-parent peer support program for parents of CYSHCN in a large, academic medical center is feasible. Family Partners enhanced their healthcare team's ability to provide patient- and family-centered support for pediatric patients and their families through the provision of emotional and tangible support. PRACTICE IMPLICATIONS: Family Partners, who are trained in effective use of the shared experience, the health coach model, and healthcare systems, and who are supported by a strong supervisory team, are ideally suited to support families and patients as they address their concerns and unmet needs and navigate complex health circumstances.

Toward Optimal Communication About HPV Vaccination for Preteens and Their Parents: Evaluation of an Online Training for Pediatric and Family Medicine Health Care Providers.

OBJECTIVE: Health care provider recommendation is a key determinant of human papillomavirus (HPV) vaccination. We developed an online training program for providers that addressed vaccine guidelines, hesitancy to strongly recommend the vaccine, and reluctance to discuss HPV infection as a sexually transmitted infection. DESIGN: Single-group evaluation with 3 waves. Providers completed a 29-item electronic survey with closed and open-ended response options after course completion. SETTING: Pediatric and family medicine practices in North Carolina. PARTICIPANTS: Prescribing clinicians (MD, DO, family nurse practitioner, physician assistant) who serve preteens aged 11 to 12 years. In wave 3, we expanded our communities to include nursing and medical staff. INTERVENTION: An asynchronous online course to promote preteen HPV vaccination. Topics included HPV epidemiology, vaccine recommendations from the Advisory Committee on Immunization Practices (ACIP), preteen-provider-parent communication, topics about hesitancy to seek vaccination, subjects related to sexual health, and practice-level strategies to increase vaccination rates. The course, approved for 12 CME and CNE credits, was live for 4 weeks and available on-demand for 3 additional months. MAIN OUTCOME MEASURES: Provider-reported change in vaccine communication, perceptions of course content in improving practice, and satisfaction with materials. RESULTS: A total of 113 providers from 25 practices enrolled in the course and 69 (61%) completed an evaluation. Providers spent an average of 6.3 hours on the course and rated the CDC (Centers for Disease Control and Prevention)-ACIP Web site and multiple resources on hesitancy and communication about sexually transmitted infection vaccines most highly of all materials across the 3 waves. Almost all (96%) agreed the course will improve their practice. About half of all participants said they were either "much more likely" (28%) or "more likely" (19%) to recommend the vaccine after course participation. CONCLUSIONS: An online format offers a highly adaptable and acceptable educational tool that promotes interpersonal communication and practice-related changes known to improve providers' vaccine uptake by their patients.

Commercial sexual exploitation and sex trafficking of adolescents.

PURPOSE OF REVIEW: This review describes the current state of commercial sexual exploitation and sex trafficking of adolescents in the United States and globally, the legal and health implications of this severe form of abuse, and the roles that pediatric and adolescent healthcare providers can play in addressing this issue. Although this form of exploitation and abuse is shrouded in secrecy, pediatric and adolescent healthcare providers are well positioned to respond when it arises. However, awareness and understanding of the issue are generally lacking among healthcare professionals, currently limiting their effectiveness in combating this problem. RECENT FINDINGS: Although the empirical evidence base available to guide clinical care of victims of trafficking remains limited given the secretive nature of the abuse, important contributions to the multidisciplinary literature on this issue have been made in recent years, including the Institute of Medicine's landmark report in the United States. SUMMARY: Commercial sexual exploitation and sex trafficking of adolescents represent a human rights tragedy that remains inadequately addressed. As preeminent advocates for the health and well-being of adolescents, pediatric and adolescent healthcare providers can play a crucial role in advancing efforts not only to intervene but also to prevent further victimization of vulnerable youth.

Systematic Review of the Impact of Transition Interventions for Adolescents With Chronic Illness on Transfer From Pediatric to Adult Healthcare.

Transfer from pediatric to adult care is a critical component of a high-quality transition experience for adolescents and young adults (AYA) with chronic illness. To examine the current evidence regarding the effect of transition interventions on care transfer, we performed a systematic review of studies that evaluated the effect of transition interventions on the specific health services outcome of transfer. The Medline, CINAHL, and PsycINFO databases were searched for studies that evaluated 1) a discrete transition intervention for AYA, 2) included a comparison group, and 3) reported on the outcome of transfer from pediatric to adult healthcare. References were screened and reviewed separately by authors, and relevant study details were abstracted during the review process. Five studies from five different countries were included in the final analysis. All five studies were conducted in specialty care clinics, with three interventions involving a nurse practitioner or systems navigator and two interventions involving physicians. Four studies were retrospective observational studies, and one was a pilot randomized controlled trial. Three of the five studies found that the transition intervention was associated with increased rates of transfer while the other two showed no statistically significant effects. Overall, evaluation of transfer appears to be hindered by methodological challenges. Establishing clearer definitions and metrics of transfer and creating the infrastructure needed to monitor the transfer of patients more consistently are important goals.

Confidentiality in the Care of Adolescents: Technical Report.

Confidentiality is a foundational element of high-quality, accessible, and equitable health care. Despite strong grounding in federal and state laws, professional guidelines, and ethical standards, health care professionals and adolescent patients face a range of complexities and barriers to seeking and providing confidential care to adolescents across different settings and circumstances. The dynamic needs of adolescents, the oftentimes competing interests of key stakeholders, the rapidly evolving technological context of care, and variable health care billing and claims requirements are all important considerations in understanding how to optimize care to focus on and meet the needs of the adolescent patient. The following assessment of the evolving evidence base offers a view of the current state and best practices while pointing to numerous unmet needs and opportunities for improvement in the care experiences of youth as well as their health outcomes.

Confidentiality in the Care of Adolescents: Policy Statement.

Confidentiality is an essential component of high-quality health care for adolescents and young adults and can have an impact on the health care experiences and health outcomes of youth. Federal and state laws, professional guidelines, and ethical standards provide a core framework for guidance in the implementation of confidentiality protections in clinical practice. This policy statement provides recommendations for pediatricians and other pediatric health care professionals, clinics, health systems, payers, and electronic health record developers to optimize confidentiality practices and protections for adolescents and young adults across the spectrum of care.

Iliac Accessory Rod Technique for Rod Fracture Prevention in Long Fusion Constructs: 2-Dimensional Operative Video.

Implant-related complications in surgery for adult spinal deformity (ASD) account for roughly $1 billion US health care expenditures over 5 years, with a majority due to primary rod fracture.1,2 Traditional two-rod constructs have demonstrated rod fracture rates of up to 40%, with a median time to fracture of 3 years.3 Current supplementary rod techniques for decreasing rod fractures inadequately address the issue of increased strain across the lumbosacral junction.4 Here, we describe a novel four-rod technique using "iliac accessory rods," designed to mitigate rod fractures by reinforcing osteotomy levels and dispersing biomechanical stress across the lumbosacral junction. Compared with other supplementary rod techniques for ASD, iliac accessory rods anchor to independent iliac bolts.5 The added fixation points across the lumbosacral junction (4 iliac bolts total) substantially offloads stress on primary rods, most of which fracture near the lumbosacral junction.3 Additionally, connecting these rods to primary rods rostrally via side-to-side connectors, above the osteotomy levels, ensures mobile osteotomy segments are reinforced. Presented is a 78-year-old woman with ASD and worsening lower back pain, radiculopathy, and bilateral leg weakness who failed nonoperative management. She underwent T9 to bi-iliac instrumented fusion with L1-S1 posterior column osteotomies, L4-S1 transforaminal lumbar interbody fusions, and bilateral iliac accessory rod fixation. Postoperatively, she recovered well and had improvement in her symptoms. Imaging revealed correction of spinal alignment. The patient consented to the procedure, and the participants and any identifiable individuals consented to publication of his/her image. Institutional Review Board approval was waived because of institutional exemption policy.

Exploring the perspectives of obese adolescent girls.

To understand obese adolescent girls' perspectives regarding their weight and health we studied video intervention/prevention assessment audiovisual narratives created by 14 obese girls ages 12 to 20 years. The narratives included interviews, monologues, and daily activities. Themes included illness conceptualizations, health concerns, health misinformation, and distress regarding appearance deriving from both within and without. The predominant theme was ambivalence about obesity. Close examination of these themes revealed potential footholds for intervention. Sensitive exploration of issues such as appearance and psychosocial distress might strengthen the patient-clinician partnership in identifying a patient's strengths and motivating weight loss.

Immunizations for preteens.

As a part of health supervision visits, all preteens should receive the combined tetanus, diphtheria, and pertussis vaccine, the meningococcal conjugate vaccine, the human papillomavirus vaccine series, and an annual influenza vaccine. Because levels of vaccine coverage among preteens are generally suboptimal, strategies for improving coverage should be devised and implemented.

Surgical outcome of a patient with Bertolotti's syndrome in whom the established Castellvi classification system failed: illustrative case.

BACKGROUND: Bertolotti's syndrome is a condition of the lower back and/or L5 distribution leg pain caused by a lumbosacral transitional vertebra (LSTV). Diagnosing the LSTV as the cause of the symptoms and condition is essential for accurate management of this syndrome. Castellvi's classification system is widely accepted for LSTV anatomy, but it measures only one aspect of transitional anatomy and was intended primarily to identify target-level disk herniations. OBSERVATIONS: In this case, the Castellvi classification system failed to identify the patient (with 2 years of back and L5 pain) as having an LSTV, even though he displayed LSTV-like anatomy because both L5 transverse process heights measured less than 19 mm. He attained brief but significant relief from bilateral injections into the L5-S1 transverse/ala region and underwent a minimally invasive bilateral decompression of L5-S1 with almost complete relief of his symptoms maintained more than 6 months postoperatively. LESSONS: Given that the patient gained significant relief from treatment of transitional anatomy that failed to be identified using Castellvi's classification system, this case suggests that transverse process height may not be adequate or even the most clinically relevant indicator in identifying LSTV anatomy, which is a precursor to the diagnosis of Bertolotti's syndrome.

Redefining the Treatment of Lumbosacral Transitional Vertebrae for Bertolotti Syndrome: Long-Term Outcomes Utilizing the Jenkins Classification to Determine Treatment.

OBJECTIVE: Using the Jenkins classification, we propose a strategy of shaving down hypertrophic bone, unilateral fusion, or bilateral fusion procedures to achieve pain reduction and improve quality of life for patients with Bertolotti syndrome. METHODS: We reviewed 103 patients from 2012 through 2021 who had surgically treated Bertolotti syndrome. We identified 56 patients with Bertolotti syndrome and at least 6 months of follow-up. Patients with iliac contact preoperatively were presumed to be more likely to have hip pain that could respond to surgical treatment, and those patients were tracked for those outcomes as well. RESULTS: Type 1 patients (n = 13) underwent resection. Eleven (85%) had improvement, 7 (54%) had good outcome, 1 (7%) had subsequent surgery, 1 (7%) was suggested additional surgery, and 2 (14%) were lost to follow-up. In Type 2 patients (n = 36), 18 underwent decompressions and 18 underwent fusions as a first line. Of the 18 patients treated with resection an interim analysis saw 10 (55%) with failure and needing subsequent procedures. With subsequent procedure, 14 (78%) saw improvement. For fusion surgical patients, 16 (88%) saw some improvement and 13 (72%) had a good outcome. In Type 4 patients (n = 7), 6 (86%) did well with unilateral fusion, with durable benefit at 2 years. In patients who had hip pain preoperatively (n = 27), 21 (78%) had improvement of hip pain postoperatively. CONCLUSIONS: The Jenkins classification system provides a strategy for patients with Bertolotti syndrome who fail conservative therapy. Patients with Type 1 anatomy respond well to resection procedures. Patients with Type 2 and Type 4 anatomy respond well to fusion procedures. These patients respond well in regard to hip pain.

Predictive Modeling to Identify Children With Complex Health Needs At Risk for Hospitalization.

BACKGROUND: Identifying children at high risk with complex health needs (CCHN) who have intersecting medical and social needs is challenging. This study's objectives were to (1) develop and evaluate an electronic health record (EHR)-based clinical predictive model ("model") for identifying high-risk CCHN and (2) compare the model's performance as a clinical decision support (CDS) to other CDS tools available for identifying high-risk CCHN. METHODS: This retrospective cohort study included children aged 0 to 20 years with established care within a single health system. The model development/validation cohort included 33 months (January 1, 2016-September 30, 2018) and the testing cohort included 18 months (October 1, 2018-March 31, 2020) of EHR data. Machine learning methods generated a model that predicted probability (0%-100%) for hospitalization within 6 months. Model performance measures included sensitivity, positive predictive value, area under receiver-operator curve, and area under precision-recall curve. Three CDS rules for identifying high-risk CCHN were compared: (1) hospitalization probability ≥10% (model-predicted); (2) complex chronic disease classification (using Pediatric Medical Complexity Algorithm [PMCA]); and (3) previous high hospital utilization. RESULTS: Model development and testing cohorts included 116 799 and 27 087 patients, respectively. The model demonstrated area under receiver-operator curve = 0.79 and area under precision-recall curve = 0.13. PMCA had the highest sensitivity (52.4%) and classified the most children as high risk (17.3%). Positive predictive value of the model-based CDS rule (19%) was higher than CDS based on the PMCA (1.9%) and previous hospital utilization (15%). CONCLUSIONS: A novel EHR-based predictive model was developed and validated as a population-level CDS tool for identifying CCHN at high risk for future hospitalization.

Redefining the Classification for Bertolotti Syndrome: Anatomical Findings in Lumbosacral Transitional Vertebrae Guide Treatment Selection.

OBJECTIVE: We present the Jenkins classification for Bertolotti syndrome or symptomatic lumbosacral transitional vertebra (LSTV) and compare this with the existing Castellvi classification for patients presenting for treatment. METHODS: We performed a retrospective cohort study of 150 new patients presenting for treatment of back, hip, groin, and/or leg pain from July 2012 through February 2022. Using magnetic resonance imaging, computed tomography, and radiography, the patients with a radiographic finding of LSTV, an appropriate clinical presentation, and identification of LSTV as the primary pain generator via diagnostic injections were diagnosed with Bertolotti syndrome. Patients for whom conservative treatment had failed and who underwent surgery to address their LSTV were included in the present study. RESULTS: The Castellvi classification excludes 2 types of anatomic variants: the prominent anatomic side and the potential transverse process and iliac crest contact. Of 150 patients with transitional anatomy, 103 (69%) were identified with Bertolotti syndrome using the Jenkins classification and received surgery (46 men [45%] and 57 women [55%]). Of the 103 patients, 90 (87%) underwent minimally invasive surgery. The patients presented with pain localized to the back (n = 101; 98%), leg (n = 79; 77%), hip (n = 51; 49%), and buttock (n = 52; 50%). Only 84 of the Jenkins classification patients (82%) met any of the Castellvi criteria. All 19 patients for whom the Castellvi classification failed had had type 1 anatomy using the Jenkins system and underwent surgery (decompression, n = 16 [84%]; fusion, n = 1 [5%]; fusion plus decompression, n = 2 [11%]). Of these 19 patients, 17 (89%) had improved pain scores. The 19 patients exclusively diagnosed via the Jenkins classification had no significant differences in improved pain compared with those diagnosed using the Castellvi classification. CONCLUSIONS: The Jenkins classification improves on the prior Castellvi classification to more comprehensively describe the functional anatomy, identify uncaptured anatomy, and better predict optimal surgical procedures to treat those with Bertolotti syndrome.

Adolescent and Young Adult Perspectives on Quality and Value in Health Care.

OBJECTIVE: To describe adolescent and young adult (AYA) perspectives on defining quality and value in health care and to gain understanding of their knowledge of value-based payment. METHODS: A text message-based survey was sent to a convenience sample of AYAs aged 14 to 24 in 2019. Participants were asked 4 open-ended questions: 1) how they would define "good health care," 2) what factors to consider in rating doctors, 3) whose opinions should matter most when rating doctors, and 4) the best ways to collect AYA opinions on doctors, and one yes/no question on their awareness of value-based payment. Analyses included descriptive demographic statistics and an inductive thematic approach with multivariable models comparing adolescent (14-18) and young adult (19-24) responses. RESULTS: Response rate was 61.0% (782/1283). Most participants were White (63.3%), female (53.3%), and adolescents (55.6%). Common themes from the first 2 questions included accessibility (specifically affordability), coverage benefits, and care experience (including compassion, respect, and clinical competence). Young adults more commonly mentioned affordability than adolescents (54.4% vs 43.3%, P = .001) and more commonly felt their opinion should matter more than their parents when rating doctors (80.6% vs 62.0%, P < .001). Only 21.0% of AYAs were familiar with the potential value-based link between physician payment and care quality. CONCLUSIONS: When considering quality and value in health care, AYAs expressed their desired agency in rating the quality of their care and clinicians. AYAs' perspectives on health care quality, including the importance of care accessibility and affordability, should be considered when designing youth-centered care delivery and value-based payment models.