Degos disease in a child presenting with acute renal failure.

Degos disease, also termed malignant atrophic papulosis, is a rare systemic vaso-occlusive disorder, seldom reported in the pediatric population. The pathognomonic skin lesion in Degos disease is a papule with an atrophic porcelain-white center with an erythematous, telangiectatic rim. The benign form of the disease remains limited to the skin, whereas, in others, it progresses to thrombotic vasculopathy in multiple organs including the gastrointestinal, cardiorespiratory, and central nervous systems, with a high mortality rate. We present a rare case of Degos disease in an adolescent female, presenting as acute renal failure secondary to thrombotic vasculopathy, with the characteristic skin lesion distinctively seen on dermoscopy.

Management of Malignant Bowel Obstruction: An Innovative Proactive Outpatient Nurse-Led Model of Care for Patients With Advanced Gynecologic Cancer.

BACKGROUND: Malignant bowel obstruction (MBO) in patients with advanced gynecologic cancer (GyCa) can negatively impact clinical outcomes and quality of life. Oncology nurses can support these patients with adequate tools/processes. PROBLEM: Patients with GyCa with/at risk of MBO endure frequent emergency or hospital admissions, impacting patient care. APPROACH: Optimizing oncology nurses' role to improve care for patients with GyCa with/at risk of MBO, the gynecology oncology interprofessional team collaborated to develop a proactive outpatient nurse-led MBO model of care (MOC). OUTCOMES: The MBO MOC involves a risk-based algorithm engaging interdisciplinary care, utilizing standardized tools, risk-based assessment, management, and education for patients and nurses. The MOC has improved patient-reported confidence level of bowel self-management and decreased hospitalization. Following education, nurses demonstrated increased knowledge in MBO management. CONCLUSIONS: An outpatient nurse-led MBO MOC can improve patient care and may be extended to other cancer centers, fostering collaboration and best practice.

Epilepsy in children with cerebral palsy: a data linkage study.

AIM: To compare the prevalence of epilepsy in children with cerebral palsy (CP) to peer controls and their differences in healthcare utilization. METHOD: The Quebec CP registry was linked to the provincial administrative health database. Two CP cohorts were identified from the registry (n=302, 168 males, 1y 2mo-14y) and administrative data (n=370, 221 males, 2y 2mo-14y). A control cohort (n=6040, 3340 males, 10-14y) was matched by age, sex, and region to the CP registry cohort. Administrative data algorithms were used to define epilepsy cases. Data on hospitalizations and emergency department presentations were obtained. RESULTS: Using the most sensitive epilepsy definition, prevalence was 42.05% in the CP registry, 43.24% in the CP administrative data, and 1.39% in controls. Prevalence rose with increasing Gross Motor Function Classification System level. Children with CP and epilepsy had increased number and length of hospitalizations and emergency department presentations compared to children with CP or epilepsy alone. Epilepsy accounted for approximately 5% of emergency department presentations and 10% of hospitalizations in children with epilepsy, with and without CP. INTERPRETATION: Children with CP have an increased risk of epilepsy compared to their peers. Children with CP and coexisting epilepsy represent a unique subset with complex developmental disability and increased healthcare service utilization.

Hospitalizations in School-Aged Children with Cerebral Palsy and Population-Based Controls.

OBJECTIVE: To compare hospitalizations among children with cerebral palsy (CP) and healthy controls and to identify factors associated with hospitalizations in children with CP. METHODS: This retrospective cohort study linked data from a provincial CP Registry and administrative health databases. The CP cohort was comprised of children born from 1999 to 2002. Age, sex, and region-matched controls were identified from administrative health databases. Mean differences, relative risk (RR), and 95% confidence intervals (CIs) were calculated. RESULTS: A total of 301 children with CP were linked to administrative health data and matched to 6040 controls. Mean hospitalizations per child during the study period were higher in children with CP compared to controls (raw mean difference (RMD) 5.0 95% CI 4.7 to 5.2) with longer length of stay (RMD 2.8 95% CI 1.8 to 3.8) and number of diagnoses per hospitalization (RMD 1.6 95% CI 1.4 to 1.8). Increased risk of hospitalization was observed in non-ambulant children with CP (RR 1.12 95% CI 1.01 to 1.22) compared to ambulant children and among those with spastic tri/quadriplegic CP compared to other CP subtypes (RR 1.15, 95% CI 1.05 to 1.27). Feeding difficulties (RR 1.20 95% CI 1.13 to 1.27), cortical visual (RR 1.22 95% CI 1.13 to 1.32), cognitive (RR 1.16 95% CI 1.04 to 1.30), and communication impairment (RR 1.26 95% CI 1.10 to 1.44) were associated with increased hospitalizations. CONCLUSIONS: Children with CP face more frequent, longer hospital stays than peers, especially those with a more severe CP profile. Coordinated interdisciplinary care is needed in school-aged children with CP and medical complexity.

Emergency Department Use in Children with Cerebral Palsy: A Data Linkage Study.

OBJECTIVE: To describe the pattern of emergency department (ED) consultations in children with cerebral palsy (CP) compared to controls and factors predictive of ED consultations. METHODS: This retrospective cohort study linked data from the Registre de la paralysie cérébrale du Québec (REPACQ) and provincial administrative health databases. The CP cohort was comprised of children enrolled in REPACQ born between 1999 and 2002. REPACQ covers 6 of 17 Quebec health administrative regions. Region-, age-, and gender-matched controls were identified from administrative health databases in a 20:1 ratio. The primary outcome was high use of ED services (≥4 ED visits during the study period). Relative risk (RR) and 95% confidence interval (CI) were calculated. RESULTS: In total, 301 children with CP were linked to administrative data and 6040 peer controls were selected. Ninety-two percent (92%) of the CP cohort had at least one ED visit in the study period, compared to 74% among controls (RR 1.24, 95% CI 1.19-1.28). Children with CP were more likely than their peers to have high ED use (RR 1.40; 95% CI 1.30-1.52). Factors predictive of high ED use were comorbid epilepsy (RR 1.23; 95% CI 1.04-1.46) and severity of motor impairment (RR 1.14; 95% CI 0.95-1.37). CONCLUSION: Children with CP are more likely to present to the ED than their peers, resulting in increased use of ED services. Coordinated care with improved access to same-day evaluations could decrease ED use. Health system factors and barriers should be investigated to ensure optimal and appropriate use of ED services.

Complementary and Alternative Therapy Use in Children with Cerebral Palsy.

OBJECTIVE: To describe complementary and alternative medicine (CAM) use amongst children with cerebral palsy (CP) in Canada and to identify factors associated with CAM use. METHODS: We conducted a cross-sectional study, utilising data from the Canadian CP Registry. We explored the association between CAM use and regional, socioeconomic and CP phenotypic variables, and parental perception of the family-centredness of clinical care using the Measures of Process of Care-56 (MPOC-56). Chi-square analyses were performed, and odds ratios (OR) and 95% confidence intervals (CI) were obtained. Mann-Whitney U tests were used to compare MPOC-56 scores between CAM users and non-CAM users. RESULTS: The study sample consisted of 313 families of which 27% reported CAM use in the past year. Children with CP using CAM were more likely to reside in Western Canada (OR 3.3, 95% CI 1.6-6.7), live in a two-parent household (OR 3.5, 95% CI 1.5-8.4), have an ataxic/hypotonic or dyskinetic CP subtype (OR 3.0, 95% CI 1.5-6.1) and have a greater motor impairment (OR 2.8, 95% CI 1.7-4.9). MPOC-56 subscale scores were not significantly associated with CAM use. CONCLUSION: Physicians need to be aware of existing CAM therapies, the level of evidence supporting their efficacy (beneficence), their associated risks of adverse events (non-maleficence) and enable fair access to care that may be of benefit to each child.

Safety of two-hour intermittent intravenous infusions of tacrolimus in the allogeneic hematopoietic stem cell transplantation unit.

At our institution, tacrolimus is used as a second-line agent for the prevention and treatment of graft-versus-host-disease in the allogeneic hematopoietic stem cell transplantation (HSCT) unit after patients have experienced a serious or intolerable adverse event to cyclosporine. As per our standard practice, tacrolimus is administered via 2-h intermittent IV infusions (IIVs) every 12 h rather than continuous IV infusion. Shorter infusion times are cautioned due to concerns of higher rates of nephrotoxicity, neurotoxicity and infusion-related reactions, although there is a paucity of data to support this claim. Our primary objective was to evaluate the safety of a 2-h IIV of tacrolimus in an adult HSCT population. We retrospectively reviewed the charts of 104 patients who received tacrolimus by IIV (3574 doses; median = 22, range 1-158, IQR = 28) from 2002 to 2016. Primary outcomes collected include rates of nephrotoxicity, neurotoxicity and infusion-related reactions. One (0.9%) grade 2 infusion-related reaction occurred and resolved without discontinuation of tacrolimus. Of 16 incidences (13.6%) of nephrotoxicity, all but 10 (8.5%) cases resolved. Precipitating factors for nephrotoxicity unrelated to tacrolimus were identified in all 10 cases. There were 41 incidences (35%) of neurotoxicity, of which, 8 (6.8%) were considered serious. All neurotoxicity reverted to baseline or resolved completely. We propose that a 2-h IIV of tacrolimus is a safe method of administration in the adult HSCT setting.

Moisturisers from birth in at-risk infants of atopic dermatitis - a pragmatic randomised controlled trial.

BACKGROUND: Atopic dermatitis (AD) is a common, chronic dermatosis, with onset of disease often manifesting in early infancy. Past studies evaluating the early use of moisturisers in the prevention of AD had mixed results. OBJECTIVES: To compare the incidence of moderate or severe AD and total incidence of AD in a cohort of 'at-risk' infants treated with moisturisers from the first 2 weeks of life, to a similar group without moisturisers. METHODS: We performed a single-centre, prospective, parallel-group, randomised study in infants with at least 2 first-degree relatives with atopy. Subjects were randomised into either a treatment group with moisturisers or a control group without moisturisers. Participants were assessed at 2, 6, and 12 months for AD and if present, the severity was assessed using SCORAD index. We also compared the overall incidence of AD, trans-epidermal water loss (TEWL), stratum corneum (SC) hydration, pH, and incidence of food and environmental sensitisation and allergies between both groups. Genotyping for loss-of-functions mutations in the FLG gene was conducted. RESULTS: A total of 200 subjects were recruited, with 100 subjects in each arm. There was no significant difference in incidence of moderate or severe AD, and total incidence of AD at 12 months between the treatment and control groups. There was a lower mean SCORAD in the treatment group than in the control group, but no significant difference in TEWL, SC hydration, and skin pH. No significant side-effects were reported. CONCLUSIONS: The early use of moisturisers in 'at-risk' infants does not reduce the incidence of moderate-to-severe AD and overall incidence of AD in infancy.

Reducing dexamethasone antiemetic prophylaxis during the COVID-19 pandemic: recommendations from Ontario, Canada.

PURPOSE: People with cancer face an elevated risk of infection and severe sequelae from COVID-19. Dexamethasone is commonly used for antiemetic prophylaxis with systemic therapy for cancer. However, dexamethasone is associated with increased risk of viral and respiratory infections, and causes lymphopenia, which is associated with worse outcomes during COVID-19 infections. Our purpose was to minimize dexamethasone exposure during antiemetic prophylaxis for systemic therapy for solid tumors during the COVID-19 pandemic, while maintaining control of nausea and emesis. METHODS: We convened an expert panel to systematically review the literature and formulate consensus recommendations. RESULTS: No studies considered the impact of dexamethasone-based antiemetic regimens on the risk and severity of COVID-19 infection. Expert consensus recommended modifications to the 2019 Cancer Care Ontario Antiemetic Recommendations. CONCLUSION: Clinicians should prescribe the minimally effective dose of dexamethasone for antiemetic prophylaxis. Single-day dexamethasone dosing is recommended over multi-day dosing for regimens with high emetogenic risk excluding high-dose cisplatin, preferably in combination with palonosetron, netupitant, and olanzapine. For regimens with low emetogenic risk, 5-HT3 antagonists are recommended over dexamethasone.

Family-centred health care for children with cerebral palsy.

AIM: To identify characteristics of young children with cerebral palsy (CP), and intrinsic and extrinsic factors, that may be associated with parental perceptions regarding family-centred health care services. METHOD: We conducted a cross-sectional study, drawing our sample from the Canadian Cerebral Palsy Registry (CCPR). Parents rated the extent of family-centred care provided by their child's health care teams using the 56-item Measures of Process of Care (MPOC) questionnaire. Environmental and CP phenotypic variables were extracted from the CCPR for group comparisons. Low and high MPOC-56 raters were also compared. RESULTS: Valid responses were obtained from 282 families (90%). All MPOC-56 subscales were highly rated (median ≥6.0), indicating satisfaction with health care services, with the exception of the Providing General Information subscale (median 4.8, interquartile range 3.2-6.0). Parents from Nova Scotia rated all subscales significantly higher than parents from other regions. CP subtype and severity were not significantly associated with MPOC-56 subscale scores. Higher socio-economic status was associated with lower MPOC-56 subscale scores. Higher paternal educational attainment and household income were significantly associated with lower scores on the Providing General Information and Providing Specific Information about the Child subscales respectively. INTERPRETATION: Participants affirmed the provision of family-centred services from Canadian pediatric rehabilitation centres. Sociodemographic factors were associated with parental perceptions of family-centred services. WHAT THIS PAPER ADDS: Sociodemographic factors were associated with parental perceptions of family-centred care. Factors intrinsic to the child's cerebral palsy were not associated with parental perceptions.

A case-control study analyzing mannitol dosing for prevention of cisplatin-induced acute nephrotoxicity.

BACKGROUND: Mannitol is an osmotic diuretic given routinely as part of cisplatin regimens to prevent nephrotoxicity, but there are limited data on the ideal dosage. At our center, three different doses of mannitol are used: 12, 20, and 40 g per cycle for cisplatin doses of ≥50 mg/m2. The primary objective was to determine if variations in mannitol dosing significantly influence the incidence of cisplatin-induced acute nephrotoxicity. METHODS: A case-control study was performed. Electronic records of 1462 consecutive outpatients who received cisplatin at ≥ 50 mg/m2 per cycle between January 2010 and December 2014 were reviewed. Patients experiencing nephrotoxicity of any grade within 30 days of last cisplatin dose, as defined by NCI CTCAE 4.0, were matched to a minimum of two and maximum of five controls based on the following criteria: age ± 5 years, baseline estimated glomerular filtration rate ± 10 ml/min/1.73 m2, cisplatin dose per cycle, and presence of diabetes. Conditional logistic regression was used to identify baseline predictors of cisplatin-induced acute nephrotoxicity. RESULTS: Of the 1245 included patients, 237 had nephrotoxicity and 1008 were matched controls. Median baseline estimated glomerular filtration rate for cases and controls were 83 and 80 ml/min/1.73 m2, respectively. A total of 3.8% of cases experienced ≥ grade 3 nephrotoxicity. Univariable analysis showed that diabetes, lymphoma, low baseline estimated glomerular filtration rate, and low baseline magnesium level were significantly associated with nephrotoxicity, whereas mannitol dosing did not show any association (odds ratio 1.08; p = 0.29). In multivariable analysis, diabetes and lymphoma retained statistical significance, but baseline estimated glomerular filtration rate and baseline magnesium level showed nonsignificant associations with nephrotoxicity. CONCLUSIONS: Cisplatin-induced acute nephrotoxicity remains common in patients with good baseline renal function despite preventive measures. Diabetes and lymphoma are predictors of nephrotoxicity, whereas mannitol dosing has no significant influence, suggesting that doses may be standardized across cisplatin regimens.

The Placenta in Neonatal Encephalopathy: A Case-Control Study.

OBJECTIVE: We assessed whether specific histologic placental lesions were associated with risk for neonatal encephalopathy, a strong predictor of death or cerebral palsy. STUDY DESIGN: Case-control study of singletons with gestational ages ≥35 weeks. Data were abstracted from a prospectively collected database of consecutive births at a hospital in which placental samples from specified sites are collected and stored for all inborn infants. Placentas of infants with neonatal encephalopathy were compared with randomly selected control infants (ratio of 1:3). Placental histologic slides were read by a single experienced perinatal pathologist unaware of case status, using internationally recommended definitions and terminology. Findings were grouped into inflammatory, maternal, or fetal vascular malperfusion (FVM) and other lesions. RESULTS: Placental samples were available for 73 of 87 (84%) cases and 253 of 261 (97%) controls. Delivery complications and gross placental abnormalities were more common in cases, of whom 4 died. Inflammation and maternal vascular malperfusion did not differ, and findings consistent with global FVM were more frequent in case (20%) than control (7%) placentas (P = .001). There was a trend toward more segmental FVM and high-grade FVM (fetal thrombotic vasculopathy) among cases. Some type of FVM was observed in 24% of placentas with neonatal encephalopathy. In infants with both neonatal encephalopathy and placental FVM, more often than in infants with neonatal encephalopathy without FVM, electronic fetal monitoring tracings were considered possibly or definitely abnormal (P = .028). CONCLUSIONS: Vascular malperfusion of subacute or chronic origin on the fetal side of the placenta was associated with increased risk of neonatal encephalopathy.

Prevention of carboplatin-induced hypersensitivity reactions in women with ovarian cancer.

Background Carboplatin-based chemotherapy offers high response rates and improved overall survival for women with epithelial ovarian cancer, but its use is limited by the occurrence of hypersensitivity reactions. To evaluate the efficacy of prophylactic diphenhydramine for hypersensitivity reaction prevention, we reviewed the incidence of hypersensitivity reactions and identified patients at high risk of hypersensitivity reactions. Methods Women receiving ≥6 cycles of carboplatin-based chemotherapy for epithelial ovarian cancer were identified from our institutional database at the Princess Margaret Cancer Centre. Institutional policy was changed in 2009 to introduce diphenhydramine prophylaxis for patients receiving ≥6 cycles of carboplatin. Additional clinical data were abstracted from the patient record. Results Between 2006 and 2012, 450 women received ≥6 cycles of carboplatin-based chemotherapy for epithelial ovarian cancer. Two hundred and ninety-one women received prophylaxis with diphenhydramine. Carboplatin-induced hypersensitivity reactions occurred in 41 of 449 patients (9%). Univariable predictors of carboplatin-induced hypersensitivity reactions included administration of 8 to 10 cycles of carboplatin, history of other drug allergies and a platinum-free interval >12 months. BRCA mutational status was not predictive. In a multivariable analysis, the number of cycles of carboplatin and a platinum-free interval >12 months were independent predictors of hypersensitivity reactions. There was a trend towards diphenhydramine prophylaxis reducing the incidence of hypersensitivity reactions in women with a platinum-free interval compared to continuous delivery; this was most marked when the platinum-free interval was >12 months (n = 64) (OR: 0.2 (95% CI: 0.046-0.83), p = 0.03). Conclusions The administration of diphenhydramine to women who have a platinum-free interval may reduce the risk of hypersensitivity reaction, but prospective evaluation is required.

SCOPE of Pain: An Evaluation of an Opioid Risk Evaluation and Mitigation Strategy Continuing Education Program.

OBJECTIVE: Due to the high prevalence of prescription opioid misuse, the US Food and Drug Administration (FDA) mandated a Risk Evaluation and Mitigation Strategy (REMS) requiring manufacturers of extended-release/long-acting (ER/LA) opioid analgesics to fund continuing education based on a FDA Blueprint. This article describes the Safe and Competent Opioid Prescribing Education (SCOPE of Pain) program, an ER/LA opioid analgesic REMS program, and its impact on clinician knowledge, confidence, attitudes, and self-reported clinical practice. METHOD: Participants of the 3-h SCOPE of Pain training completed pre-, immediate post- and 2-month post-assessments. SUBJECTS: The primary target group (n = 2,850), and a subset (n = 476) who completed a 2-month post-assessment, consisted of clinicians licensed to prescribe ER/LA opioid analgesics, who care for patients with chronic pain and who completed the 3-h training between February 28, 2013 and June 13, 2014. RESULTS: Immediately post-program, there was a significant increase in correct responses to knowledge questions (60% to 84%, P ≤ 0.02) and 87% of participants planned to make practice changes. At 2-months post-program, there continued to be a significant increase in correct responses to knowledge questions (60% to 69%, P ≤ 0.03) and 67% reported increased confidence in applying safe opioid prescribing care and 86% reported implementing practice changes. There was also an improvement in alignment of desired attitudes toward safe opioid prescribing. CONCLUSIONS: The SCOPE of Pain program improved knowledge, attitudes, confidence, and self-reported clinical practice in safe opioid prescribing. This national REMS program holds potential to improve the safe use of opioids for the treatment of chronic pain.

Tolerability of Vidaza (azacitidine) subcutaneous administration using a maximum volume of 3 ml per injection.

The azacitidine (Vidaza®) product monograph indicates that doses greater than 4 ml should be divided equally into two syringes and injected into different sites. Although 2 ml is a more commonly used maximum volume for subcutaneous injections, there is a lack of evidence to support the use of any given maximum volume with azacitidine. Applying the status quo of 2 ml to azacitidine results in patients receiving 3-4 injections per visit. This prospective study evaluated the frequency and type of injection site reactions when the maximum subcutaneous injection volume was increased from 2 to 3 ml per injection site. Among 30 patients, 309 doses were administered, and injection site reactions were noted in 92.9% of all doses, with the majority (82.2%) being grade 1; only 10.7% of doses resulted in grade 2 reactions, and there were no grade 3 or 4 reactions. There was no increase in frequency or severity of injection site reactions when the maximum volume was increased to 3 ml. The median number of injections that patients received per visit decreased from 3 to 2 after the volume was increased, and there was a statistically significant reduction in the incidence of pain. Decreasing the number of injections also facilitates ease of rotation of injection sites and decreases pharmacy preparation time. This is the first time that injection site reaction data relating to injection volume have been reported for azacitidine.

Tolerability of Velcade (Bortezomib) subcutaneous administration using a maximum volume of 3 mL per injection site.

Subcutaneous injection is now commonly used as a standard for bortezomib administration. The bortezomib (Velcade(®)) product monograph recommends that intravenous injections be prepared at a concentration of 1 mg/mL, while subcutaneous injections may be prepared at a concentration of 2.5 mg/mL. Many institutions and subcutaneous administration guidelines use 2 mL as the maximum volume for subcutaneous injection. Using 2 mL as the maximum volume for injection would mean that many patients receiving bortezomib will receive two injections during each visit with common dosing parameters. In this prospective study evaluating a change to subcutaneous administration, bortezomib 1 mg/mL was administered subcutaneously at a higher maximum of 3 mL per injection site. For 57 individual patients, 339 doses were administered. Skin reactions were noted in 42% with all reactions being Grade 1 or 2. Patients tolerated subcutaneous injections well and only four patients were switched back to intravenous route. This is the first time that subcutaneous bortezomib of a volume up to a maximum of 3 mL (bortezomib 3 mg) per injection site has been reported. This higher single dose is well tolerated with limited skin reactions, no significant hypotension and facilitates ease of administration with only 5 patients needing two injections per visit. If the maximum volume for injection was kept at 2 mL, a total of 46 patients would have received two injections per visit.

Assessing adherence to oral chemotherapy using different measurement methods: Lessons learned from capecitabine.

PURPOSE: Adherence to oral medication is important in oncology. Few studies have evaluated adherence with cancer agents such as capecitabine, which is given on a complicated schedule. Furthermore, little guidance exists regarding the best methods for monitoring adherence with oral cancer drugs. The purpose of our study was to evaluate adherence to capecitabine using several accepted measures. PATIENTS AND METHODS: Patients treated with capecitabine for gastrointestinal cancers were included in this prospective cohort study. Adherence was evaluated during two consecutive cycles of capecitabine using three assessment methods: self-report, pill count, and use of a microelectronic monitoring system. The primary endpoint was proportion of patients adherent to capecitabine (>80% of adherence according to the three methods of measurement); the secondary objective was to compare the three methods of measurement. RESULTS: Nineteen patients were accrued to this study. Further accrual was stopped after the first planned analysis, because 18 and 19 patients were adherent by self-report and pill count, respectively. The overall adherence rates were 99, 100, and 61% with self-report, pill count, and microelectronic monitoring system cap, respectively. Ten (53%) patients were classified as nonadherent (<80% of adherence according to at least one method of measurement), but four of them transferred their pills into another medication container suggesting that measurement of adherence using microelectronic monitoring system technology may not be useful. CONCLUSION: While we did not identify a major adherence issue with capecitabine in our study, it provides insight into problems associated with measurement of adherence in oncology and suggests that combining measures of adherence maximizes accuracy.

Unmasking the Struggle: A Scoping Review Exploring Post-Traumatic Stress Symptoms in Caregivers of Individuals with Neurodevelopmental, Psychiatric and Neurocognitive Disorders.

The impact of caregiving on caregivers' mental health is typically considered within the caregiver stress and burden literature; however, more recently, research has investigated the experience of post-traumatic stress symptoms (PTSS) in caregivers. As an emerging area of research, it is timely to conduct a scoping review to map the existing literature in relation to PTSS among adult caregivers of children and adults with neurodevelopmental disorders (NDD), neurocognitive disorders, and psychiatric disorders. The scoping review was conducted using Preferred Reporting Items of Systematic Reviews and Meta-Analyses Extension for Scoping Reviews guidelines and Arksey and O'Malley's five-stage methodology framework. Published and unpublished gray literature between 2005 and 2022 was included in the scoping review. Nine thousand one hundred and twenty-five studies were originally identified for screening and 22 studies were selected for inclusion in the final review. Trauma and PTSS experienced by NDD caregivers were related to news breaking, NDD diagnosis, and behavioral issues, whereas caregivers of individuals with psychosis reported aggression and violence as traumatic events. Studies showed that up to half of caregivers reported PTSS, although no conclusions could be drawn about prevalence rates. A wide variety of tools measuring PTSS were used across the 22 studies. Many symptoms of PTSS were reported by caregivers, and cognitive appraisals were associated with PTSS in caregivers. The findings highlight the importance of recognizing the impact of trauma in caregiver mental health and the potential value of using traumatic stress frameworks with these populations. Research should be expanded to establish prevalence rates and to examine the long-term impact of trauma on caregiving as caregivers and care recipients age.

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP) and their biological parents. We classified 37 of 327 (11.3%) children as having pathogenic/likely pathogenic (P/LP) variants and 58 of 327 (17.7%) as having variants of uncertain significance. Multiple classes of P/LP variants included single-nucleotide variants (SNVs)/indels (6.7%), copy number variations (3.4%) and mitochondrial mutations (1.5%). The COL4A1 gene had the most P/LP SNVs. We also analyzed two pediatric control cohorts (n = 203 trios and n = 89 sib-pair families) to provide a baseline for de novo mutation rates and genetic burden analyses, the latter of which demonstrated associations between de novo deleterious variants and genes related to the nervous system. An enrichment analysis revealed previously undescribed plausible candidate CP genes (SMOC1, KDM5B, BCL11A and CYP51A1). A multifactorial CP risk profile and substantial presence of P/LP variants combine to support WGS in the diagnostic work-up across all CP and related phenotypes.

Pediatric School Outreach: Clinical Needs of an Urban Student Population.

Pediatric School Outreach (PSO) is a school-based health center (SBHC) in an urban elementary school in Toronto, Canada. PSO focuses on developmental, behavioral, mental health, and educational concerns. A retrospective chart review aimed to characterize demographics, diagnoses, and referrals of patients attending PSO. Of 137 children, ages 2 to 15 years, 73.7% were male; 58.1% had a household annual income of <$30 000 CAD. Possible or confirmed diagnoses included attention deficit hyperactivity disorder (48.5%), learning disability (35.6%), anxiety (22.0%), autism spectrum disorder (16.7%), oppositional defiant disorder (14.4%), and expressive language delay (11.4%). Involvement of community mental health and other agencies was advised in 37.9% of cases. Psychoeducational testing was recommended for 25.0% of patients. Results suggest the need for timely developmental testing, particularly for autism spectrum disorder, and accessible learning disability diagnostic support. There is potential for expansion of interprofessional care at PSO, including psychology, psychiatry, social work, and behavior therapy.