Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder.

TANGO2 deficiency disorder (TDD) is a neurodegenerative disease characterized by a broad and variable spectrum of clinical manifestations, even among individuals sharing the same pathogenic variants. Here, we report a severely affected individual with TDD presenting with intractable paroxysmal sympathetic hyperactivity (PSH). While progressive brain atrophy has been observed in TDD, PSH has not been reported. Despite comprehensive workup for an acute trigger, no definite cause was identified, and pharmacological interventions were ineffective to treat PSH. Ultimately care was redirected to comfort measures. This article expands the clinical phenotype of patients with TDD, highlights the possibility of PSH in these patients, and the need for continued research for better treatments of TDD.

Effect of methadone on QTc in infants.

OBJECTIVE: Methadone has been associated with prolongation of the QTc interval (QTc) on electrocardiogram (ECG). In infants, the effects of methadone on the QTc are not well described. Our study's objective is to evaluate the QTc in infants being treated with methadone. METHODS: We conducted a retrospective study in infants receiving methadone. We collected demographic data, methadone dose, and QTc. A blinded-to-disease-state pediatric electrophysiologist determined the QTc. Baseline ECG was defined as an ECG obtained while not on methadone therapy, and QTc on baseline ECG was compared with treatment QTc. A significant change was defined as any absolute QTc greater than 500 or a QTc greater than 460 with an increase from baseline of greater than 40 ms. RESULTS: A total of 44 infants comprised the study population. The mean gestational age was 32.3 ± 5.51 weeks. The median age of initiation was 66 days. The median dose was 0.52 mg/kg/day in oral methadone equivalents. Nine patients were on high dose methadone (>1 mg/kg/day in oral methadone equivalents). The mean baseline QTc was 421 ± 27 and the mean change on methadone was -2 ms. No patient had a QTc greater than 500 on methadone. One patient had a QTc of 467 and 46 ms change from baseline, with no clinically significant impact. CONCLUSION: In our study population, methadone did not significantly prolong the QTc. Further prospective study is warranted to determine the utility and frequency of ECGs in infants receiving methadone.

Pediatric Palliative Care: A Five-Year Retrospective Chart Review Study.

BACKGROUND: More children are living with serious illness. However, survival and complexity of illnesses have not been described. OBJECTIVE: To describe types of illnesses, timing of referral, and time to death following referral to palliative care; to examine the associations between demographics and clinical characteristics and patient survival; and to examine whether average daily pain decreases after referral. DESIGN: Retrospective chart review of all children ages 2-16 years referred to palliative care at one large children's hospital during the five-year study period from January 1, 2009, through December 31, 2013. MEASUREMENTS: The primary outcome was patient survival and the main independent predictor was type of illness. Kaplan-Meier estimation was used to estimate patient survival time following referral, Cox proportional hazards regression was used to build predictive models based on gender, age, race, religion, and types of illnesses, and paired t-test compared the assessment of pain before and after referral. RESULTS: The cohort consisted of 256 children. Survival experience did not differ significantly based on gender, age, race, or religion (p ≥ 0.05); however, survival did vary based on referring diagnosis (χ2 = 40.3, df = 4, p < 0.001), particularly cancer. Forty-eight children with three days of pain assessments pre- and postreferral had significantly decreased pain postreferral (t(47) = 1.816, p < 0.05 one tailed), supporting our hypothesis. DISCUSSION: Results provide important information on the complexity of disease processes for children referred to palliative care, types of illnesses referred, survival, and pain levels. Results reflect earlier referral to palliative care for most children and highlight the medical complexity especially for children with congenital and genetic diagnoses.

Advance care planning in adolescents with cystic fibrosis: A quality improvement project.

INTRODUCTION: Advance care planning (ACP), though recommended, has not been studied in adolescents with cystic fibrosis (CF). This quality improvement project engaged adolescents with advanced CF disease in ACP and assessed patient and CF provider attitudes and preferences regarding ACP discussions and tools. MATERIALS AND METHODS: Patients ≤22 years with advanced CF (FEV1 ≤40% predicted, >2 pulmonary exacerbations requiring IV antibiotics in 1 year, and/or use of home oxygen or non-invasive ventilation) were referred to the pediatric palliative care team (PC). After establishing rapport, ACP was discussed using Voicing My CHOiCES™: An Advanced Care Planning Guide (VMC). Patients completed a survey assessing attitudes and preferences around ACP. PC also led a training session for CF providers around ACP and VMC and provider attitudes were assessed via a pre- and post-training survey. RESULTS: Twelve patients (mean age 17.9 ± 2.2 years) reviewed VMC and completed the ACP survey. The majority (83%) found ACP helpful. None felt it was harmful. All found VMC easy to understand and 90% felt it was appropriate for patients with CF. Of participating CF providers (pre-training, n = 6; post-training, n = 7), 83% found ACP worthwhile, but desired more training in this area. All found the training session useful and felt VMC was appropriate for patients with CF. DISCUSSION: Adolescents with advanced CF disease felt ACP was a positive experience and not harmful. CF providers valued ACP, but desired more training. Both patients and providers felt that VMC was a useful, disease-appropriate tool. Pediatr Pulmonol. 2016;51:1304-1310. © 2016 Wiley Periodicals, Inc.

Assessment of the Spiritual Needs of Primary Caregivers of Children with Life-Limiting Illnesses Is Valuable Yet Inconsistently Performed in the Hospital.

BACKGROUND: Religion and spirituality influence how many patients and families experience illness, but knowledge of the level of spiritual care provided to caregivers of pediatric patients within the hospital is limited. OBJECTIVE: We evaluated patient caregivers' perceptions of the extent to which their religious and spiritual (R/S) needs were assessed and addressed in the hospital. METHODS: We surveyed primary caregivers of children referred to palliative care <1 year prior at an urban, pediatric academic medical center. Participants completed a structured questionnaire with quantitative and qualitative measures of the provision of spiritual care in the hospital. Nonparametric tests were used to compare various measures of perceived and desired R/S support. RESULTS: The majority (16/24) of caregivers desired inquiry about R/S needs by the medical team. Fewer than half (12/25) had these needs assessed. No subjects were uncomfortable with questions regarding R/S needs. Only 35% (8/23) specifically wanted a physician to inquire about R/S needs. Subjects whose R/S needs were assessed perceived higher levels of support from the medical team (4.40 versus 3.08, p = 0.02). A significant correlation existed between number of hospital-based R/S resources used and reported R/S-related comfort (rs = 0.438, p = 0.043). CONCLUSIONS: Assessment of R/S needs of caregivers of pediatric palliative care patients is performed less often than desired, even though it can improve perceptions of support from medical teams. Use of hospital-based R/S resources can increase spiritual comfort. Standardizing assessment of caregivers' R/S needs and referral to appropriate resources is a target for quality improvement in pediatric palliative medicine.

Ketamine PCA for treatment of end-of-life neuropathic pain in pediatrics.

Control of neuropathic pain (NP) for children at end of life is challenging. Ketamine improves control of NP, but its use in children is not well described. We describe a retrospective case review of 14 children with terminal prognoses treated with ketamine patient-controlled analgesia (PCA) for management of opioid-refractory NP at the end of life. Median ketamine dose was 0.06 mg/kg/h (range 0.014-0.308 mg/kg/h) with a 0.05 mg/kg (range 0.03-0.5mg/kg) demand dose available every 15 minutes (range 10-60 minutes). All patients noted subjective pain relief with ketamine, and 79% had no adverse effects. Benzodiazepines limited neuropsychiatric side effects. Ketamine treatment arrested dose escalation of opioids in 64% of patients, and 79% were discharged to home hospice. Ketamine PCA is an effective, well-tolerated therapy for opioid-refractory NP in pediatric end-of-life care.