High-dose Chemotherapy is Efficacious and Well Tolerated in a Toddler With Aicardi Syndrome and Malignant Sacrococcygeal Teratoma.

Aicardi syndrome (AS) is a rare neurodevelopmental disorder, predominantly seen in female individuals, which appears to have an increased risk of both benign and malignant neoplasia. We report the case of a child with AS who presented with metastatic malignant sacrococcygeal tumor (with yolk sac elements) which recurred and then was treated with 3 cycles of high-dose chemotherapy with autologous stem cell rescue. The patient tolerated therapy with acceptable toxicity and remains in clinical remission 3 months after the completion of therapy. Her neurological status remains similar to that before diagnosis with the exception of chemotherapy induced hearing loss. This is the first description a sacrococcygeal teratoma in a patient with Aicardi, as well as the first use of intensified consolidation chemotherapy in a patient with Aicardi, which was well tolerated and resulted in remission. The use of chemotherapy should be considered for all patients with AS and malignancy.

Improving Access and Guideline Adherence in Pulmonary Care in Patients With Duchenne Muscular Dystrophy.

BACKGROUND: Duchenne muscular dystrophy (DMD) is a devastating, progressive neuromuscular disease that results in cardiopulmonary failure and death. In 2018, the DMD Care Considerations guidelines were updated to improve the multidisciplinary approach to care and promote early respiratory management. We sought to evaluate the impact of a multidisciplinary clinic on access to pulmonary care and adherence to respiratory care guidelines. METHODS: Utilizing retrospective data, we assessed for pulmonary care between 2016-2019 and congruence with guidelines from March 2018-February 2019. Using a standardized visit protocol, subjects were monitored for adherence to pulmonary function testing (PFT) and polysomnography (PSG) recommendations. RESULTS: Of the 84 subjects with DMD, only 51.2% had prior pulmonary involvement, and approximately one-third were seen in the year prior to clinic onset. Only 23% of subjects with a pulmonary referral completed this visit. After clinic initiation, the average age of a subject's first pulmonary contact decreased from 11.8 y to 7.9 y (P < .001), and 45% of the 77 unique clinic subjects had no previous pulmonary encounter. Adherence to PFT guidelines increased in both ambulatory (8.7% to 86.1%) and non-ambulatory subjects (25.9% to 90.1%). Approximately 79% of subjects seen in clinic either completed or had an order for PSG in the last 12 months. CONCLUSIONS: Development of a multispecialty clinic expanded access to pulmonary care and evaluation in subjects with DMD. Continued care in this clinic will allow a better understanding of barriers to access and the opportunity to monitor long-term pulmonary health.

Songwriting intervention for cognitively-impaired children with life-limiting conditions: Study protocol.

Investigations evaluating the effectiveness of music-based interventions as a complementary approach to symptom management and health promotion for cognitively-impaired children with life-limiting conditions and their families are needed to minimize the physical and psychological burdens on individuals and their caregivers. Songwriting is one music-based strategy for a remote family-centered complementary approach to improve outcomes for cognitively-impaired children with life-limiting conditions, their parents, and families. The overall purpose of this study is to test the feasibility and preliminary efficacy of a songwriting intervention for cognitively-impaired children (ages 5-17 years) who are receiving palliative or complex care and their parents. Specific aims are to: (1) determine the feasibility of songwriting for cognitively-impaired children with life-limiting conditions and their parents, and (2) examine preliminary efficacy of songwriting for child psychological distress and physical symptoms, parent psychological distress, and family environment. The protocol for this 1-group pre-and post-intervention clinical trial (N = 25) is described.

Lessons Learned: Identifying Items Felt To Be Critical to Leading a Pediatric Palliative Care Program in the Current Era of Program Development.

Background: The experience of starting and growing a pediatric palliative care program (PPCP) has changed over the last 10 years as rapid increases of patient volume have amplified challenges related to staffing, funding, standards of practice, team resilience, moral injury, and burnout. These challenges have stretched new directors' leadership skills, yet, guidance in the literature on identifying and managing these challenges is limited. Methods: A convenience sample of 15 PPCP directors who assumed their duties within the last 10 years were first asked the following open-ended question: What do you wish you had known before starting or taking over leadership of a PPCP? Responses were grouped into themes based on similarity of content. Participants then ranked these themes based on importance, and an online discussion further elucidated the top ten themes. Results: Thirteen directors responded (86.7%; 69% female). The median age of their current-state PPCP was 5.1 years (range: 0.3-9.3), and the median number of covered pediatric-specific hospital beds was 283 (range: 170-630). Their responses generated 51 distinct items, grouped into 17 themes. Themes ranked as most important included "Learn how to manage, not just lead," "Negotiate everything before you sign anything," and "Balance patient volume with scope of practice." Conclusion: These themes regarding challenges and opportunities PPCP directors encountered in the current era of program growth can be used as a guide for program development, a self-assessment tool for program directors, a needs-assessment for program leadership, and a blueprint for educational offerings for PPCP directors.

Relationship between intraocular pressure and eye growth in chick.

In infants, abnormally high intraocular pressure (IOP) results in excessive eye enlargement. In the study reported here, we investigated whether IOP might be a determinant of ocular elongation using the chick as an animal model. Specifically, we examined IOP changes in (I). normally developing eyes, and (II). eyes undergoing altered growth. In the first case (I). developmental changes in IOP, axial length and refractive error were assessed at approximately daily intervals during early development (days 2-11 post-hatch, n = 8), and at weekly intervals from weeks 1 to 6 (n = 8). In the second case (II). opposite ocular growth responses were elicited using -15 D and +15 D defocusing spectacle lenses fitted monocularly to 8-day-old chicks (n = 8 and 7, respectively). Treated eyes were measured 3 and 7 h after lens application (between 9 and 10 am), as well as 1, 2 and 4 days later, around the same time as the initial lens application. In normal development (I). IOP increased over the first post-hatch week, peaking at 18.0 +/- 5.1 mmHg, and declined slowly thereafter to be back to near 'hatching' values at 6 weeks (12.7 +/- 5.3 mmHg at day 2 cf. 13.4 +/- 1.9 mmHg). Eyes elongated at an approximately linear rate over the entire monitoring period. The -15 D and +15 D lenses (II). produced opposing effects on eye growth, as indicated by axial length changes of + 0.67 +/- 0.25 mm cf. -0.33 +/- 0.17 mm over the 4-day treatment period. Both groups showed decreases in IOP over the first 20 h of lens wear. The faster growing eyes of the -15 D group exhibited a later relative increase in IOP. The described changes in IOP are compatible with, but do not prove, a modulatory influence of IOP on early eye growth.