Pediatric life-sustaining treatment

BACKGROUND: Acid Sphingomyelinase Deficiency (ASMD) is an ultra-rare autosomal recessive lysosomal storage disorder characterized by intracellular lipid accumulation resulting from reduced function of acid sphingomyelinase. Olipudase alfa, an enzyme replacement therapy, was recently approved in several countries for the treatment of the non-neurologic manifestations of ASMD. Studies demonstrate improvement in organomegaly, pulmonary function and lipid profiles with olipudase alfa, yet little is known about its impact on quality of life (QoL) for patients and caregivers...

Pediatric gastroenterology patients are at risk for co-occurring behavioral health concerns, such as depression and anxiety, compared with youth without medical conditions. The objective of this systematic review was to assess the scientific literature supporting the hypothesis that integrating behavioral health services into gastroenterology clinics could improve patient psychosocial well-being. We searched MEDLINE, EMBASE, The Cochrane Library, Web of Science, PsycINFO, and CINAHL databases and gray literature to identify studies reporting the impact of behavioral health integration on the psychosocial well-being of pediatric gastroenterology patients...

BACKGROUND: Tetanus is a life-threatening but preventable neurologic disorder characterized by trismus and muscle spasms. Despite its decreasing global incidence, it remains to be endemic in resource-limited settings such as the Philippines. This study aimed to determine the incidence, demographic characteristics, risk factors, clinical presentation, management, complications, and outcomes of non-neonatal tetanus cases in a tertiary hospital in the Philippines. It also aimed to compare the clinical profile and outcomes between the adult and pediatric subgroups...

Chronic Granulomatosis Disease (CGD) is an inherited immune deficiency due to a mutation in the genes coding for the subunits of the NADPH oxidase enzyme that affects the oxidative capacity of phagocytic cells. It is characterized by increased susceptibility to bacterial and fungal infections, particularly Aspergillus, as well as complications associated with hyperinflammation and granulomatous tissue infiltration. There exist two types of frequently encountered pulmonary manifestations: (1) due to their being initially pauci-symptomatic, possibly life-threatening infectious complications are often discovered at a late stage...

In high-income countries, outcomes following in hospital cardiac arrest have improved over the last two decades due to the introduction of rapid response teams, cardiac arrest teams, and advanced resuscitation training. However, in low-income countries, such as Rwanda, outcomes are still poor. This is due to multiple factors including lack of adequate resuscitation training, few trainers, and lack of equipment. To address this issue, the Initiative for Medical Equity and Global Health Equity (IMEGH), a training organization founded in 2018 by 5 local anesthesiologists has regularly taught resuscitation courses such as Basic Life Support, Advanced Cardiac Life Support, and Pediatric Advanced Life Support in hospitals throughout Rwanda...

AIM: The role of parents in decision-making concerning their child's end-of-life care is not clearly defined. Their participation is encouraged by ethical reflection, in particular by the CCNE (French National Ethics Advisory Committee), but laws are limited to imposing a duty to provide information to doctors. Decisions are taken at the end of a collegial meeting (CM) intended to better inform the child's referring physician (RP) who is in charge of the final decision following the French law...

BACKGROUND: Functional constipation can lead to painful defecations, fecal incontinence, and abdominal pain, significantly affecting a child's quality of life. Treatment options include non-pharmacological and pharmacological approaches, but some cases are intractable and require alternative interventions like neuromodulation. A subtype of neuromodulation, called Transcutaneous Posterior Tibial Nerve Stimulation (TPTNS), comprises electrical stimulation at the ankle level, by means of electrodes fixed to the skin...

AIM: This work explores the experiences and meaning attributed by parents who underwent the decision-making process of withholding and/or withdrawing life-sustaining treatment for their newborn. METHODS: Audio-recorded face-to-face interviews were led and analysed using interpretative phenomenological analysis. Eight families (seven mothers and five fathers) whose baby underwent withholding and/or withdrawing of life-sustaining treatment in three neonatal intensive care units from two regions in France were included...

Autism is a disorder distinguished by significant challenges in social interaction and communication coupled with repetitive and stereotypical patterns of behavior and activities. Deficits in social interaction and language development become apparent before age three. In children, this condition is referred to as autism spectrum disorder (ASD). Attention Deficit Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder characterized by persistent patterns of inattention, hyperactivity, and impulsivity...

INTRODUCTION: There is a scarcity of data beyond 1 year for the use of dupilumab to treat atopic dermatitis (AD) in a real-world setting. This study aimed to evaluate the 2-year effectiveness of dupilumab among adult and pediatric patients with moderate-to-severe AD included in a real-world, longitudinal database study. METHODS: PROSE is an ongoing, prospective, observational, multi-center registry in the USA and Canada, designed to collect real-world data from patients aged ≥ 12 years with moderate-to-severe AD who initiate dupilumab in accordance with country-specific prescribing information...

IMPORTANCE: The decision to withdraw life-sustaining treatment for pediatric patients with severe traumatic brain injury (TBI) is challenging for clinicians and families with limited evidence quantifying existing practices. Given the lack of standardized clinical guidelines, variable practice patterns across trauma centers seem likely. OBJECTIVE: To evaluate the factors influencing decisions to withdraw life-sustaining treatment across North American trauma centers for pediatric patients with severe TBI and to quantify any existing between-center variability in withdrawal of life-sustaining treatment practices...

Cleft lip and/or palate is a congenital malformation with a wide range of presentations, and its effective treatment necessitates sustained, comprehensive care across an affected child's life. Early diagnosis, ideally through prenatal imaging or immediately postbirth, is paramount. Access to longitudinal care and long-term follow-up with a multidisciplinary approach, led by the recommendations of the American Cleft Palate Association, is the best way to ensure optimal outcomes. Multiple specialties including plastic surgery, otolaryngology, speech therapy, orthodontists, psychologists, and audiologists all may be indicated in the care of the child...

INTRODUCTION: The Hypoglossal Nerve Stimulator (HNS) is a novel therapy that has been extensively studied in adults and more recently, it has been incorporated in children with Down Syndrome (DS) with persistent obstructive sleep apnea after adenotonsillectomy and trial of continuous positive airway pressure treatment. This systematic review article aims to examine the existing literature on HNS use in children to explore the benefits, efficacy, and parental experiences. METHODS: MEDLINE, Web of Science and EMBASE were searched to include all studies published up to March 2nd, 2023, on the topic of HNS use in pediatric population under 21 years old...

BACKGROUND: Otitis media is a common disorder of early childhood suspected of hindering auditory and language development, but evidence regarding these effects has been contradictory. To examine potential sources of these contradictory past results and explore in more detail the effects of early otitis media on auditory and language development, three specific hypotheses were tested: (1) Variability in children's general attention could influence results, especially for measures of auditory functioning, leading to spurious findings of group differences; (2) Different language skills may be differentially affected, evoking different effects across studies depending on skills assessed; and (3) Different mechanisms might account for the effects of otitis media on acquisition of different language skills, a finding that would affect treatment choices...

Today, the majority of pediatric B cell precursor acute lymphoblastic leukemia (BCP-ALL, hereafter ALL) patients survive their disease, but many of the survivors suffer from life-limiting late effects of the treatment. ALL develops in the bone marrow, where the cells are exposed to cAMP-generating prostaglandin E2 . We have previously identified the cAMP signaling pathway as a putative target for improved efficacy of ALL treatment, based on the ability of cAMP signaling to reduce apoptosis induced by DNA damaging agents...

The worldwide rising prevalence of food allergy is a major public health concern. Standard care consists of allergen avoidance and rescue medication upon accidental exposure. Oral immunotherapy (OIT) is increasingly being studied as a treatment option. Although desensitization (an increased reaction threshold) is often achieved during OIT, sustained unresponsiveness (SU; clinical nonreactivity after finishing OIT) is not achieved in most patients. A few studies have investigated the effectiveness of OIT in children younger than 4 years of age (early = e-OIT) and have shown a much more favorable outcome in terms of SU development...

UNLABELLED: Hypophosphatasia (HPP) is a rare bone disease with limited scientific evidence on the tolerability and safety of its novel treatment, Asfotase Alfa (AA). We report 7 HPP patients' heterogenous presentations and the significant improvement in various clinical outcomes attained with AA shedding light on this highly effective and safe therapy. INTRODUCTION: Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder characterized by a deficiency in the tissue non-specific alkaline phosphatase (TNSALP) due to loss of function mutation in the ALPL gene...

Onasemnogene abeparvovec has been life-changing for children with spinal muscular atrophy (SMA), signifying the potential and progress occurring in gene- and cell-based therapies for rare genetic diseases. Hence, it is important that clinicians gain knowledge and understanding in gene therapy-based treatment strategies for SMA. In this review, we describe the development and translation of onasemnogene abeparvovec from clinical trials to healthcare practice and share knowledge on the facilitators and barriers to implementation...

Mutations in the CLN5 gene cause the fatal, pediatric, neurodegenerative disease CLN5 neuronal ceroid lipofuscinosis. Affected children suffer progressive neuronal loss, visual failure and premature death. Presently there is no treatment. This study evaluated dual intracerebroventricular (ICV) and intravitreal (IVT) administration of a self-complementary adeno-associated viral vector encoding ovine CLN5 (scAAV9/oCLN5) into CLN5 affected sheep (CLN5-/- ) at various disease stages. CLN5 disease progression was slowed in pre-symptomatic sheep who received a moderate dose of scAAV9/oCLN5, whilst a higher ICV dose treatment in early and advanced symptomatic animals delayed or halted disease progression...

BACKGROUND: Spinal Muscular Atrophy (SMA) type 1 is a debilitating condition with a poor prognosis, though therapeutic advances are promising. Long-term ventilation is a common management strategy as respiratory function deteriorates. Without consensus on best practice respiratory management, the decision to initiate invasive LTV (I-LTV) for this group of young children involves many ethical considerations. Understanding the main influencing factors on a clinician's likelihood to initiative I-LTV for a child with chronic critical illness is important to maintain transparency and trust with the family during this challenging time...