Annals of the Child Neurology Society最新文献

Benign idiopathic neonatal seizures (BINS), colloquially referred to as the “fifth-day fits,” is a clinical neonatal epilepsy syndrome associated with early, spontaneous resolution of seizures and favorable developmental outcome. Although this disease entity was first described over four decades ago, the etiopathogenesis remains unknown, and it is unclear if the syndrome represents a single, cohesive disorder or a common manifestation of various unrelated neonatal neurological disturbances. As such, there are no standardized approaches to diagnostic workup and management. Benign familial neonatal seizures (BFNS) is a well-characterized genetic syndrome associated with KCNQ2 and KCNQ3 pathogenic variants, which also manifests clinically with self-resolving seizures in the neonatal period. While it remains unclear if there is any shared pathogenesis between these two disorders, the exceedingly similar phenotypic presentations and natural history raise the question of whether consensus management approaches used in genetic BFNS can also be applied to BINS. Here, we present a topical and historical review of BINS and BFNS literature and propose specific treatment recommendations based on extrapolation of limited existing clinical data.

This previously healthy three-year-old girl presented with two months of developmental regression, progressive fatigue, and jerking movements in the setting of failure to thrive and macrocytic anemia. She previously spoke in full sentences but began using only one-to-two-word phrases. She would collapse after walking short distances or going up stairs. Examination revealed lethargy, irritability, myoclonic jerks of trunk and limbs, diffuse hyperreflexia with clonus, and wide-based unsteady gait. Labs showed vitamin B₁₂ < 200 pg/mL (lowest reportable), methylmalonic acid 14 μmol/L (ref. 0.0–0.4 μmol/L), homocysteine 224 μmol/L (ref. 0–15 μmol/L), and mean corpuscular volume 110 (ref. 76–87 fL). Magnetic resonance imaging revealed no brain abnormalities, but spinal imaging showed extensive T2 hyperintensity of the dorsal columns (Figure 1). She was diagnosed with spinal cord degeneration secondary to vitamin B₁₂ deficiency. Parenteral B₁₂ supplementation led to rapid clinical improvement. However, without continued parenteral supplementation, she had declining B₁₂ levels and is undergoing further investigation for a malabsorptive or genetic-metabolic etiology.

Cobalamin, or vitamin B₁₂, is important in myelin metabolism and brain development. Pediatric B₁₂ deficiency is most commonly due to nutritional insufficiency, malabsorption, or more rarely, genetic-metabolic syndromes.^1-3 Infants and toddlers often present with developmental regression, lethargy, hypotonia, and abnormal movements such as myoclonus or chorea.^{1, 4} Spinal cord degeneration secondary to B₁₂ deficiency is exceedingly rare in children in developed countries.^{1, 2} In terms of treatment, oral B₁₂ replacement is sufficient in cases of nutritional deficiency. Malabsorptive or genetic-metabolic etiologies, on the other hand, are likely to require ongoing parenteral supplementation.³ Prognosis is dependent on age of onset and duration of uncorrected B₁₂ deficiency.¹

Shermila Pia: Conceptualization; investigation; writing—original draft. Ryan Carrier: Writing—review & editing. David Bearden: Supervision; writing—review & editing.

DB is an associate editor for Annals of the Child Neurology Society. SP and RC declare no conflicts of interest.

The article by Roach¹ describes diversity implications in child neurology training, calling for initiatives toward consensus-building and change. In this letter, we call for an initiative to empower disabled physicians and to pursue a workforce that is neurodiverse.

Schor has underscored the value of developing a workforce that reflects those we serve.² A child neurology workforce, then, should include disabled physicians, including those who identify as neurodivergent with insight regarding neurological differences that compose the human spectrum.

In the United States, disabled persons comprise nearly a quarter of adults, but only 3.1% of practicing physicians report having a disability.³ This may be an underestimate because disclosure comes with risk. Myriad obstacles prevent disabled physicians from disclosing their disability, including cultural expectations, disability stigma, and penalties that come with disclosure. This leads many to hide their disability and discourages disabled students from pursuing medical careers altogether. Likewise, neurodivergent traits are seen generally as problems in medical training despite increasing literature regarding disabled medical trainees and autistic students in higher education.^{4, 5} While affirmative practices may accommodate marginalized racial, gender, ethnic, and socioeconomic identities, neurodivergent traits may be seen as simply disqualifying. Neurodivergent individuals may not disclose their diagnosis during training and may believe that conforming—camouflaging or “masking” their traits and ignoring their needs—is the only path forward.⁶

When our culture and our health care and economic systems view disabled and neurodivergent persons via a lens of alterity—le regard médical, medicalization of behavioral traits, empirical reductionism, and valuation of persons by their economic productivity—disabled physicians meet an unmet need. Disabled physicians are not token individuals but empowered individuals who embody belonging in an equitable society. They teach us to adapt, to consider lived experience, intersectionality, and identity, which are integral to consensus-building, shared decision-making, and goal-directed care. When physicians and patients share common identities, our partnerships can be strengthened, trust engendered, and outcomes improved.

The fact may be that we have always had disabled and neurodivergent physicians among us. What we may need above all is the courage to ask ourselves whether recognizing—and empowering—our differences would better reflect the needs of our patients, making medicine good and integral to our shared humanity. If we as a professional community are pursuing equity and justice rather than token diversity and inclusion, we need to raise up disabled physicians. What must change in our system of training and

Prepublication peer review of scientific manuscripts is used by most legitimate scientific publications. Skillful peer reviews represent a valuable contribution to the field by improving the quality of scientific research communication and promoting scientific integrity.

Peer review of scientific manuscripts was introduced in 1733 by the Royal Society of Edinburgh. In 1752, a committee of the Royal Society of London began prepublication reviews for the society's Philosophical Transactions.¹ In 1893, the British Medical Journal began using outside referees for noneditorial articles.² However, prepublication peer review of medical and scientific manuscripts did not become standard until the mid-1900s, led by the introduction of manuscript review by JAMA and Science in the 1940s and Lancet in 1976.² The peer review process was likely facilitated by the advent of photocopy technology.³

The overlapping goals of peer review are to provide editors with an assessment of the veracity and potential significance of the submission and to help the author improve the quality of the manuscript. However, there are sometimes benefits to a reviewer as well, such as improved manuscript preparation skills, exposure to new concepts and ideas, and opportunities for improved professional standing.

A number of studies have analyzed the effectiveness of manuscript peer review, the potential effects of reviewer bias, and the authors' satisfaction with the review process.^4-7 Despite the acknowledged importance of manuscript peer review, information about how to do it effectively is scant, and formal training in manuscript reviewing is usually limited. There are many different ways to complete a manuscript review, but what follows is a primer on effective manuscript peer review by an editor with years of reviewing and editing experience.

Does the manuscript pass the “smell test”? As a reviewer, you are the content expert, and editors will appreciate your placing a study into context. Are earlier publications being ignored or trivialized? Well-crafted manuscripts offer a clear explanation of their purpose, ideally in the introduction. If the reviewer struggles to grasp the manuscript's importance, so will the readers.

Rare is not the same thing as novel. Manuscripts occasionally have important implications that are not recognized by the authors. More often, the authors suggest novelty when little exists. Not all novelty is equally meaningful. I am usually unimpressed with “geographic” manuscripts (“we describe the first patient with West Nile encephalitis in all of Wyoming”), “making people aware” manuscripts (describing something that is uncommon but already well-known), “masquerading as” manuscripts, incremental data reports (adding a few more patients to last year's published summary), a

A 14-month-old girl presented to the emergency department (ED) with two weeks of fever, vomiting, and new onset focal and generalized seizures and was diagnosed with tuberculosis (TB) meningitis based on imaging and serum studies, later confirmed by a TB-specific culture of the cerebral spinal fluid (CSF, acid-fast bacilli culture). She was started on anti-TB combination therapy (rifampin, isoniazid, pyrazinamide, and levofloxacin). One month later she returned to the ED with 10 days of fussiness, beginning after receiving scheduled vaccinations. Neuroimaging revealed intraparenchymal and leptomeningeal tuberculomas surrounding the anterior and posterior circulation (middle panel), which were absent from prior imaging (left panel). Repeat CSF cultures were negative for TB or other infections, leading to a diagnosis of paradoxical TB immune reconstitution inflammatory syndrome (TB-IRIS). She was started on steroids, and tuberculomas resolved within six months (right panel). She has remained seizure-free but has persistent delays in communication.

Paradoxical TB-IRIS is a severe immune response that causes clinical worsening of TB lesions following initiation of appropriate treatment.¹ Though rare, neurological symptoms from TB-IRIS develop at a median of 60 days after treatment.^{1, 2} Imaging classically demonstrates tuberculomas and/or meningitis. Patients are at a high risk of stroke given the tendency to develop lesions within the basal cisterns. Young children may be at higher risk of complications because their symptoms are often nonspecific (e.g., fussiness), leading to a delay in diagnosis (Figure 1).

Alexandria E. Melendez-Zaidi: Conceptualization; writing—original draft; writing—review and editing. Fábio A. Nascimento: Writing—review and editing. Nikita M. Shukla: Resources; writing—review and editing. Thierry A. G. M. Huisman: Resources; supervision; writing—original draft; writing—review and editing. All authors accept responsibility for conduct of the research.

The authors declare no conflicts of interest.