Annals of the Child Neurology Society最新文献

{"title":"Patient selection considerations for AADC deficiency gene therapy","authors":"Agathe Roubertie,&nbsp;Irina Anselm,&nbsp;Bruria Ben-Zeev,&nbsp;Wuh-Liang Hwu,&nbsp;Ashutosh Kumar,&nbsp;Berrin Monteleone,&nbsp;Shin-ichi Muramatsu,&nbsp;Vincenzo Leuzzi,&nbsp;Salvador Ibáñez,&nbsp;Scellig Stone,&nbsp;Phillip L. Pearl","doi":"10.1002/cns3.20052","DOIUrl":"10.1002/cns3.20052","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Aromatic ʟ-amino acid decarboxylase (AADC) deficiency is a rare, severe neurological disorder caused by pathogenic variants in the dopa decarboxylase (<i>DDC</i>) gene, resulting in a combined deficiency of monoamine neurotransmitters. Clinically, patients present with a range of dysfunctions that impact motor, autonomic, and cognitive development. The constellation of symptoms of AADC deficiency varies among patients, and clinical presentation falls across a wide spectrum. However, most patients with AADC deficiency experience significant impairments when compared with children with normal development, irrespective of genotype, phenotype, or disease severity. Further, AADC deficiency is associated with increased mortality.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In response to the recent approval of a disease-modifying gene therapy for AADC deficiency, this review presents considerations for the selection of patients for treatment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Suggested clinical criteria to determine whether a patient is a candidate for gene therapy are: (1) genetically and biochemically confirmed AADC deficiency; (2) lack of achievement of gross motor milestones and/or persistence of clinically significant movement disorders; (3) persistent neurocognitive or systemic symptoms secondary to AADC deficiency despite standard medical therapy; and (4) informed parental/guardian decision and consent to treatment.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 1","pages":"53-59"},"PeriodicalIF":0.0,"publicationDate":"2024-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20052","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139626694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome","authors":"Chelsea B. Valery,&nbsp;Isabelle Iannotti,&nbsp;Eric H. Kossoff,&nbsp;Andrew Zabel,&nbsp;Bernard Cohen,&nbsp;Yangming Ou,&nbsp;Anna Pinto,&nbsp;Anne M. Comi","doi":"10.1002/cns3.20058","DOIUrl":"10.1002/cns3.20058","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Ninety percent of infants with Sturge–Weber syndrome (SWS) brain involvement have seizure onset before 2 years of age; early-onset seizures are associated with worse neurological outcome. Presymptomatic treatment before seizure onset may delay seizure onset and improve outcome, as has been shown in other conditions with a high risk of developing epilepsy, such as tuberous sclerosis complex. The electroencephalogram (EEG) may be a biomarker to predict seizure onset. This retrospective clinical data analysis aims to assess the impact of presymptomatic treatment in SWS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This two-center, Institutional Review Board–approved, retrospective study analyzed records from patients with SWS brain involvement. Clinical data recorded included demographics, age of seizure onset (if present), brain involvement extent (unilateral versus bilateral), port-wine birthmark (PWB) extent, family history of seizures, presymptomatic treatment if received, Neuroscore, and antiseizure medications. EEG reports prior to seizure onset were analyzed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Ninety-two patients were included (48 females), and 32 received presymptomatic treatment outside of a formal protocol (five aspirin, 16 aspirin and levetiracetam; nine aspirin and oxcarbazepine, two valproic acid). Presymptomatically treated patients were more likely to be seizure-free at 2 years (15 of 32, 47% versus 7 of 60, 12%; <i>p</i> &lt; 0.001). A greater percentage of presymptomatically treated patients had bilateral brain involvement (38% treated versus 17% untreated; <i>p</i> = 0.026). Median hemiparesis Neuroscore at 2 years was better in presymptomatically treated patients. In EEG reports prior to seizure onset, the presence of slowing, epileptiform discharges, or EEG-identified seizures was associated with seizure onset by 2 years (<i>p</i> = 0.001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Presymptomatic treatment is a promising approach to children diagnosed with SWS prior to seizure onset. Further study is needed, including prospective drug trials, long-term neuropsychological outcome, and prospective EEG analysis, to assess this approach and determine biomarkers for presymptomatic treatment.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 1","pages":"60-72"},"PeriodicalIF":0.0,"publicationDate":"2024-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20058","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139534671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A scoping review of cerebral reperfusion therapies in childhood and adolescence with arterial ischemic stroke","authors":"Ana Lúcia de Paula Garcia,&nbsp;Flávia Guirro Zuliani,&nbsp;Cristiane Lara Mendes-Chillof,&nbsp;Silméia Garcia Zanati Bazan,&nbsp;Carlos Clayton Macedo de Freitas,&nbsp;Gabriel Pinheiro Modolo,&nbsp;Vitor Mendes Pereira,&nbsp;Gustavo José Luvizutto,&nbsp;Rodrigo Bazan","doi":"10.1002/cns3.20055","DOIUrl":"10.1002/cns3.20055","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Management of pediatric stroke is challenging because of the paucity of data supporting the efficacy of interventions. This scoping review details the treatments available for the acute phase of stroke in pediatric patients with arterial ischemic stroke.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Summary of Review</h3>\u0000 \u0000 <p>Overall, 68 relevant articles were published between 2001 and 2023. The primary study included 48 case reports (<i>n</i> = 48). Eleven articles reported the use of intravenous thrombolysis (IVT) with alteplase, eight used intra-arterial (IA) alteplase, and 52 reported mechanical thrombectomy (MT). IVT was administered to 195 patients with a median of 5.5 h of stroke onset, and only four (2.0%) had intracranial hemorrhage after alteplase treatment. Of the 11 articles, nine used 0.9 mg/kg IVT administered as a 10% bolus, with the remaining 90% administered over one hour, and one study used 0.54 mg/kg. IA was performed in 17 patients with a median of 5.05 h of stroke onset, and three individuals (17.6%) had intracranial hemorrhage. Of the eight reports that document IA, two used 0.9 mg/kg; one each used 0.16 mg/kg, 0.1 mg/kg, 0.6 mg/kg, 100 mg/day, and 10 mg/day; and one article documented the use of urokinase 750 000 IU. MT was used in 434 and 215 individuals in a previous systematic review, with a median of 11.82 h of stroke onset, and only 2.9% had intracranial hemorrhage after the treatment. Stent retrievers were used in 33 reports (63.5%) and aspiration retrievers were mentioned in 15 articles (28.8%). Overall, the outcomes ranged from complete to moderate recovery for all modalities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>IVT and MT are safer than IA; however, despite the lack of clinical trials, all modalities seem effective in improving clinical recovery. To guide clinical practice and determine better intervention modalities, clinicians should note the key messages from this review, such as using magnetic resonance imaging in the acute phase and identifying key risk factors and presenting symptoms.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 1","pages":"40-52"},"PeriodicalIF":0.0,"publicationDate":"2023-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20055","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139149629","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Frey syndrome","authors":"Audrey C. Brumback","doi":"10.1002/cns3.20051","DOIUrl":"https://doi.org/10.1002/cns3.20051","url":null,"abstract":"<p>A healthy and normally developing girl was born at 41 weeks via forceps-assisted vaginal delivery. Starting around 6 months of age, during meals (and especially when eating sour foods like citrus fruit), she routinely developed acute-onset flushing of the left cheek in a stereotyped linear pattern (Figure 1A and Video S1) and persisting into childhood (Figure 1B). This was not bothersome to her and was not associated with any systemic symptoms. The flushing completely disappeared within 30 min after eating. The Minor starch-iodine test showed no evidence of hyperhidrosis.<span>¹</span></p><p>Auriculotemporal syndrome (“Frey syndrome”) is due to dysfunction of the auriculotemporal nerve (a branch of the mandibular division of the trigeminal nerve, V3). Mechanical injury to the nerve (e.g., during forceps-assisted birth or parotid gland surgery) leads to nerve regeneration with aberrant innervation of the sweat glands of the skin. Thus, activation of the parotid gland during meals induces skin flushing in a V3 distribution. In this patient, anticipatory guidance given to daycare providers helped preempt concerns about food allergies.</p><p>The pathophysiology of the syndrome was first described by Dr. Łucja Frey (1889–1942), a Polish physician and scientist who was murdered by the Nazis during World War II.<span>^2-4</span></p><p><b>Audrey C. Brumback</b>: Conceptualization; investigation; visualization; writing—original draft.</p><p>Audrey C. Brumback serves on the editorial board of <i>Annals of the Child Neurology Society</i>.</p>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 4","pages":"329-330"},"PeriodicalIF":0.0,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20051","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139042008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The congenital muscular dystrophies","authors":"Haluk Topaloğlu,&nbsp;Bita Poorshiri","doi":"10.1002/cns3.20050","DOIUrl":"10.1002/cns3.20050","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Congenital muscular dystrophies (CMDs) are genetically and clinically heterogeneous inherited conditions. Onset is typically within the first year of life. Most CMDs are autosomal recessive, except for de novo dominant mutations in <i>LMNA</i>-related muscular dystrophy and some collagen-6-associated disorders.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>CMD is characterized by progressive muscular weakness, hypotonia, multiple contractures with a variable degree, spinal stiffness, delay in motor milestones acquisition, and histologically dystrophic lesions. Also, some forms of CMD may feature structural and myelination abnormalities on brain magnetic resonance imaging, intellectual impairment, and structural abnormalities of the eye. Muscle biopsy specimens exhibit a dystrophic pattern, but the appearance is quite variable depending on the different stages and severity of the disorder. The prevalence of CMD is estimated to be one in 100 000 people. Over the last few years, with advances in molecular genetic diagnostics, knowledge about neuromuscular disorders, particularly CMDs, has increased dramatically. Thus, the incidence may be higher than originally thought.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This article reviews the recent achievements related to the clinical, diagnostic, pathogenic, and therapeutic aspects of CMDs.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 1","pages":"27-39"},"PeriodicalIF":0.0,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20050","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139168634","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Co-occurrence and inheritance of two typically sporadic neurogenetic disorders","authors":"Amanda Nagy,&nbsp;Hannah Brooks,&nbsp;Ann M. Neumeyer","doi":"10.1002/cns3.20053","DOIUrl":"10.1002/cns3.20053","url":null,"abstract":"<p>We describe a 13-year-old male diagnosed with two rare neurogenetic disorders, transducin (beta)-like X-linked receptor 1 (<i>TBL1XR1</i>)-related disorder and Bainbridge–Ropers syndrome (BRPS), caused by pathogenic variants in additional sex combs-like 3 (<i>ASXL3</i>). Each variant was inherited from an affected parent, although the parents each exhibited much milder phenotypes than the child. <i>TBL1XR1</i>, a widely expressed transcriptional regulator,<span>¹</span> has been implicated in a range of neurodevelopmental disorders.<span>²</span> <i>TBL1XR1</i>-related disorder includes both Pierpont syndrome, a disorder associated with characteristic dysmorphism, including short stature, along with developmental delay, epilepsy, and feeding difficulties,<span>^{3, 4}</span> and non-Pierpont presentations, including autism spectrum disorder (ASD), intellectual disability (ID), attention deficit hyperactivity disorder (ADHD), epilepsy, and schizophrenia.<span>²</span> Heterozygous pathogenic variants in the <i>ASXL3</i> transcriptional regulator cause BRPS, characterized by developmental delay with significant language impairment, ID, ASD, feeding difficulties, epilepsy, and dysmorphism.<span>⁵</span> Nonspecific clinical features that overlap with other genetic syndromes make <i>TBL1XR1</i>-related disorder and BRPS difficult to recognize and diagnose. Further, both disorders typically arise from de novo variants, with few cases of either disorder previously reported to be inherited.</p><p>The patient is a 13-year-old Hispanic male found to have a maternally inherited pathogenic <i>ASXL3</i> variant [c.4678C &gt; T, p.(R1560*) in exon 12] and paternally inherited pathogenic <i>TBL1XR1</i> variant [c.1291C &gt; T, p.(R431*) in exon 14]. Genetic testing was done by GeneDx using their autism/ID expanded panel with DNA analyzed via next-generation sequencing with copy-number variant calling. Both variants were classified as pathogenic by GeneDx using the 2015 guidelines published by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.<span>⁶</span></p><p>His mother has mild ID, ASD traits, ADHD, febrile seizures, and anxiety. His father has been diagnosed with Asperger syndrome, bipolar disorder, fetal alcohol syndrome, ID, ADHD, substance use disorder, anxiety, depression, and psychosis. There are no siblings. The patient was born full term at 6 pounds by Cesarean section due to maternal fever and an amniotic fluid leak. He spent one night in the neonatal intensive care unit for presumed infection. Perinatal difficulties included latching issues, tongue tie, extension contracture of the left hand that corrected over time, reflux, and poor/irritable sleep.</p><p>His initial development was normal; however, regression began after a fever at 18 months. Nearly all verbal and communication skills were lost. He made repetitive sounds, stopped pl","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 1","pages":"79-81"},"PeriodicalIF":0.0,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20053","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139008443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Childhood apraxia of speech, oral motor apraxia, and velopharyngeal insufficiency in a young woman with a de novo pathogenic variant in the ZNF292 gene","authors":"Jessica M. Davis,&nbsp;Deborah L. Renaud","doi":"10.1002/cns3.20054","DOIUrl":"10.1002/cns3.20054","url":null,"abstract":"<p>The <i>ZNF292</i> gene encodes a zinc-finger protein that is strongly expressed in the brain during prenatal development.<span>^{1, 2}</span> <i>ZNF292</i>-related neurodevelopmental disorder (NDD) was delineated in a cohort of 28 individuals with 24 different variants in <i>ZNF292</i>.<span>²</span> Our patient displays several prominent features of NDD including intellectual disability (ID), speech/language delays, and autism spectrum disorder (ASD). She also has more significant motor delay and difficulties with coordination associated with hypotonia and chewing/swallowing difficulties from an early age associated with velopharyngeal insufficiency (VPI), oral motor apraxia (OMA), and childhood apraxia of speech (CAS).</p><p>This 16-year-old Caucasian female was evaluated for a long-standing history of speech delay with gross and fine motor delay and dyscoordination and hypotonia. She had a history of dysphagia and nasal regurgitation of liquids, characterized as OMA and VPI by otolaryngology and speech pathology. Multiple speech pathology assessments were performed from early childhood until the time of her evaluation due to expressive language delay with poor intelligibility associated with motor planning difficulties, consistent with childhood apraxia of speech. Her math and reading skills were at a grade 7 level. There was no history of seizures or cardiac conditions.</p><p>In her late teens, she was formally diagnosed with ASD. Neuropsychological testing showed overall ID from borderline to average ranges with a full-scale IQ of 86. Attention/executive function testing was average.</p><p>She was a slender young lady with minor dysmorphic features including relatively small ears, a bulbous nasal tip, relatively large lips and mouth with thin upper lip, and long slender fingers. She was able to respond to questions although her speech was hypernasal and difficult to understand. She had difficulties with tongue protrusion and imitating tongue movements, and she was not able to puff her cheeks, consistent with her history of oromotor apraxia. Her neurological examination was significant for hypotonia with normal resistive strength and normal deep tendon reflexes.</p><p>Magnetic resonance imaging of the brain showed a normal myelination pattern without cortical malformation. A GeneDx ID/ASD expanded panel at age 16 years was negative. Reanalysis of the GeneDx panel, at age 22, revealed a de novo pathogenic variant in the <i>ZNF292</i> gene [c.3432_3436del; p.(N1114Kfs*5)]. Both parents did not carry the variant. This specific variant has not been reported in the literature.</p><p>This patient expands upon the previously described phenotypes associated with <i>ZNF292</i>-related NDD (Table 1).<span>²</span> The phenotypic expression is variable except for almost universal presentations of ID (96%) and speech delays (93%) as well as autistic features (61%). Our patient had speech delays and autistic features with ","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 4","pages":"327-328"},"PeriodicalIF":0.0,"publicationDate":"2023-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20054","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138586095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A second dimension of somatosensory system injury? Thalamic volume loss and neuropathic pain in adults with cerebral palsy and periventricular white matter injury","authors":"Eric M. Chin,&nbsp;Nicole Gorny,&nbsp;James J. Pekar,&nbsp;Claudia M. Campbell,&nbsp;Martin Lindquist,&nbsp;Colleen Lenz,&nbsp;Alexander H. Hoon Jr.,&nbsp;Lauren L. Jantzie,&nbsp;Shenandoah Robinson","doi":"10.1002/cns3.20047","DOIUrl":"https://doi.org/10.1002/cns3.20047","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>Lemniscal (motor-related) and spinothalamic (neuropathic pain-related) somatosensory abnormalities affect different subsets of adults with cerebral palsy (CP). Lemniscal/motor abnormalities are associated with posterior thalamic radiation white matter disruption in individuals with CP and white matter injury. We tested the hypothesis that neuropathic pain symptoms in this population are rather associated with injury of the somatosensory (posterior group nuclei) thalamus.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this cross-sectional study, communicative adults with CP and bilateral white matter injury and neurotypical control participants volunteered to self-report pain symptoms and undergo research MRI. Posterior group thalamic nuclei volume was computed and correlated against neuropathic pain scores.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Participants with CP (<i>n</i> = 6) had, on average, 24% smaller posterior group thalamic volumes (95% CI: [10%–39%]; corrected <i>p</i> = 0.01) than control participants. More severe volume loss was correlated with more severe neuropathic pain scores (<i>ρ</i> = −0.87 [−0.99, −0.20]; <i>p</i> = 0.02).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Association with thalamic volume loss suggests that neuropathic pain in adults with CP may frequently be central neuropathic pain. Complementing assessments of white matter microstructure, regional brain volumes hold promise as diagnostic biomarkers for central neuropathic pain in individuals with structural brain disorders.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 4","pages":"305-311"},"PeriodicalIF":0.0,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20047","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139047562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Moral distress, moral injury, and burnout: Clinicians’ resilience and adaptability are not the solution","authors":"Pedro Weisleder","doi":"10.1002/cns3.20048","DOIUrl":"https://doi.org/10.1002/cns3.20048","url":null,"abstract":"<p><i>Moral distress</i>, <i>moral injury</i>, and <i>burnout</i> are terms used to encapsulate the difficulties that arise when the relationship that individuals have with their work goes awry.<span>^{1, 2}</span> Burnout, in particular, exquisitely captures the feeling of having had fizzled out. What started as a purposeful and fulfilling profession ends in a disappointing way. Among clinicians, the incidence of moral distress, moral injury, and burnout exceeds 50%.<span>^{3, 4}</span> Moral distress, moral injury, and burnout—collectively termed <i>moral suffering</i><span>^{5, 6}</span>—stem from a self-evident reality: grief. Clinicians suffer, and as a consequence, so do patients. Among clinicians, the angst is moral—it is the distress that arises in response to an adversity that challenges our integrity.<span>⁶</span></p><p><i>Moral distress</i> is the emotion experienced by an individual when the appropriate course of action is evident, but a series of obstacles such as scarcity of time, limited resources, lack of seniority, an organization's power structure, institutional policies, red tape, or legal considerations make it difficult to pursue the right course of action.<span>^7-9</span> Moral distress tends to be situational, and as such it can be a collective emotion. In healthcare, moral distress arises from having to remain silent in the face of rude behavior, from witnessing wasteful use of medical resources, when doing things <i>to the patient</i> and not <i>for the patient</i>, and from lack of autonomy.<span>⁴</span></p><p><i>Moral injury</i> goes a critical step further. It is the enduring psychological, spiritual, behavioral, social, and emotional harm inflicted on an individual's conscience when that person perpetrates, fails to prevent, or witnesses acts that conflict with their values or beliefs.<span>^{4, 10}</span> Because moral injury stems from an affront to an individual's integrity, it can leave those who endure it feeling victimized, betrayed, wounded, guilty, and ashamed.<span>^{6, 11}</span> If moral distress is situational and possibly collective, moral injury is individual and transcendent.<span>⁴</span></p><p>While we might speak of them in the same breath, moral distress, moral injury, and burnout are not the same. The latter can be a consequence of either one of the former two. Burnout is a syndrome caused by intellectual, physical, and emotional exhaustion in the face of unrelenting stressors in the workplace.<span>⁴</span> The burnout syndrome's signs and symptoms include malaise, frustration, cynicism, low self-esteem, hopelessness, isolation, sleeplessness, emotional exhaustion, despondency, broken relationships, alcohol and substance abuse disorder, suicidal ideation, and completed suicide.<span>^{12, 13}</span> Burnout thwarts our ability to adapt to the present, and it gives us the impression that our fut","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 4","pages":"262-266"},"PeriodicalIF":0.0,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20048","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139042270","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The resilient phenotype: Physicians who thrive despite adversity","authors":"E. Steve Roach","doi":"10.1002/cns3.20049","DOIUrl":"https://doi.org/10.1002/cns3.20049","url":null,"abstract":"<p>Writing the counterpoint article to Pedro Weisleder's commentary on moral injury among medical practitioners has been challenging, largely because I tend to agree with much of what my friend has to say.<span>¹</span> I am also at a considerable disadvantage because, unlike Dr. Weisleder, I am not a trained ethicist. Thus, I have few options in this debate but to provide a smattering of personal observations in an effort to ensure a balanced perspective.</p><p>There is considerable research on burnout among physicians, but moral injury is not as well studied. Physicians are often reluctant to acknowledge concerns about moral injury lest they appear inadequate or weak. Their hesitancy to speak may also be related to a denial of personal vulnerability or to the long-standing stigma surrounding mental health disorders among physicians, a broader problem for another day's discussion.</p><p>One point that is seldom mentioned in contemporary discussions of physician burnout and moral injury is that medicine is an intrinsically difficult profession. How could it be otherwise when we so often deal with untreatable diseases, death, disability, social and family turmoil, and patient financial ruin? It is wrong to assume that only modern physicians face soul-scarring difficulties. Previous generations of physicians had far fewer effective therapies and so more often had to preside over hopeless situations or resort to worthless medications or mutilating amputations in an often-futile attempt to save someone's life. Additionally, physicians once faced a socially accepted dual standard of care that was far worse than the present gap between individuals with commercial health care insurance and those with limited coverage: it was once considered completely acceptable for physicians to simply ignore sick poor people. Indeed, physicians who provided a free cattle-call clinic for a few hours each month were usually considered noble for doing so. Surely these circumstances would have engendered moral injury to many caring, thoughtful physicians of the time. While the recently articulated concept of moral injury makes it easier to recognize the outsized role that our health care system plays in creating physician distress, it is naïve to blame burnout and moral injury solely on the institutions of medicine. Being a physician has always been challenging, and it is likely to remain so even if we can address some of the systemic issues.</p><p>I have often pondered why some physicians seem to fare so much better than others when facing situations that typically lead to moral injury and burnout. Even within the same medical specialty, in the same institution, and with the same workload, some people remain grounded and productive while others falter and decompensate. From my own admittedly anecdotal observations, the diverse responses of physicians to professional adversity may be partly explained by intangible individual qualities such as resilience, perfec","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 4","pages":"267-268"},"PeriodicalIF":0.0,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20049","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139042271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}