Annals of the Child Neurology Society最新文献

{"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}

{"title":"Clinical spectrum, etiology, and treatment response in neonatal autonomic seizures: A case series","authors":"Robin M. Litten,&nbsp;Amy L. Patterson,&nbsp;Amy L. McGregor,&nbsp;Basanagoud Mudigoudar,&nbsp;Nitish Chourasia","doi":"10.1002/cns3.20046","DOIUrl":"https://doi.org/10.1002/cns3.20046","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Neonatal autonomic signs such as apnea, cyanosis, pallor, and desaturation rarely occur as isolated ictal phenomena and require a high degree of clinical suspicion in combination with continuous video electroencephalogram (vEEG) to establish a diagnosis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We review the clinical profile, etiology, and treatment response in five neonates who presented with apnea as the primary seizure semiology.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Ictal apneic episodes were confirmed on continuous vEEG in all five infants within 24–48 h of symptom onset. Seizure etiologies included structural, infectious, and genetic, including a neonate with <i>ANKRD11</i>-associated KBG syndrome, in which ictal apnea has not been previously described. Acute seizures resolved in all neonates following treatment with a single or combination of antiseizure medications.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Abrupt onset and clustering episodes of apnea and oxygen desaturation in term infants should raise suspicion for epileptic seizures. Genetic testing should be considered as part of the diagnostic evaluation for autonomic seizures of unknown etiology. Early diagnosis and treatment of neonatal autonomic seizures may lead to excellent treatment response in the acute setting.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 4","pages":"312-319"},"PeriodicalIF":0.0,"publicationDate":"2023-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20046","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139041984","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":"Data-driven evidence shows truthful caregiver histories and significant overdiagnosis of abusive head trauma","authors":"Chris B. Brook","doi":"10.1002/cns3.20035","DOIUrl":"https://doi.org/10.1002/cns3.20035","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We analyzed the veracity of caregiver-provided histories when infants present with intracranial pathologies and abusive head trauma (AHT) is suspected.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A comparison of medical findings is made using data from 335 infants with acute intracranial pathologies and no extracranial findings associated with abuse. Two null hypotheses were tested: (1) that cases where caregivers reported accidental trauma have similar medical findings to independently witnessed accidents; and (2) that cases where caregivers reported no trauma have similar medical findings as cases where caregivers reported accidental trauma.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The first null hypothesis is not rejected, corroborating caregiver histories of accidental trauma, yet such cases are diagnosed as AHT at significantly higher rates than accidents witnessed by unbiased independent observers. The second null hypothesis is rejected, corroborating caregiver histories that no trauma occurred.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Data suggest that caregivers can provide valuable diagnostic information when infants present with acute intracranial pathologies and suggest substantial rates of misdiagnosis of AHT.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 4","pages":"299-304"},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20035","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139041963","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":"Quantitative EEG in the neonatal intensive care unit: Current application and future promise","authors":"Jennifer C. Keene,&nbsp;Giulia M. Benedetti,&nbsp;Stuart R. Tomko,&nbsp;Réjean M. Guerriero","doi":"10.1002/cns3.20042","DOIUrl":"10.1002/cns3.20042","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Importance</h3>\u0000 \u0000 <p>Quantitative electroencephalography (qEEG) has been used in the neonatal intensive care unit (NICU) for several decades. Recent innovations have led to renewed interest in expanding its role in the NICU with the goal of improving both acute care of neonates in the NICU and longer-term outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Observations</h3>\u0000 \u0000 <p>EEG in the NICU is primarily used to identify neonatal seizures. Sophisticated analysis of EEG can detect other acute neurological emergencies and provide additional information about short- and long-term neurodevelopmental and epileptic prognosis. Using EEG for these additional findings may be limited by access to EEG resources and a constrained supply of neonatal neurophysiologists who can consistently evaluate unique neonatal EEG patterns.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Relevance</h3>\u0000 \u0000 <p>Quantitative EEG analysis is a rapidly developing technology with the potential to augment and support the interpretation of neonatal EEGs. This review focuses on the status of qEEG use in the NICU for identification and prediction of seizures and use in neuroprognostication. It also examines areas of promise for bedside qEEG applications.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 4","pages":"289-298"},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20042","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135242221","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}