Annals of the Child Neurology Society最新文献

Sudden unexpected death in epilepsy (SUDEP) is a common cause of premature mortality in people with epilepsy.¹ Professional guidelines and existing data from caregivers of children with epilepsy support SUDEP risk disclosure in the clinical setting. ¹ Yet SUDEP risk disclosure remains a challenge for both clinicians and caregivers.² Barriers to clinician risk disclosure may include fear of exacerbating caregiver anxiety, discomfort navigating complex communication, lack of knowledge, and limitations in SUDEP prevention strategies.² Caregivers may be unsure of which questions to ask or feel hesitant voicing their questions.² Question prompt lists (QPLs) have the potential to empower caregiver question-asking and decrease unmet informational needs about SUDEP.³

In a prospective cross-sectional study, we consulted existing literature on SUDEP communication preferences to design a 24-question survey for caregivers of children with epilepsy.⁴ A stakeholder advisory committee comprised of caregivers, epileptologists, and advocates provided guidance on study design and survey content. Of the survey questions, 14 asked for caregiver demographic information and child epilepsy history, while 10 centered on caregivers' knowledge of SUDEP and communication preferences for SUDEP risk disclosure.⁵ To collect responses from caregivers, we partnered with advocacy organizations, who posted a link to the survey in their general membership groups. An open-ended survey question prompted caregivers to list any questions they recommend that other patients and families ask their clinicians about SUDEP. Caregiver responses were collated, collapsed, and refined for clarity and reading level. We used Canva (Canva Pty Ltd.) to generate a QPL to complement conversations about SUDEP risk.

One hundred nineteen of the 212 caregivers who participated in the survey submitted a total of 251 questions. Respondents had a median age of 42 years (range: 18–69 years), had children with a median of 15 seizures per year (range: 4–≥100), and primarily identified as White (n = 112/119, 94.1%). Twelve respondents identified as bereaved (Table 1).

Collation and categorization of caregiver responses resulted in the identification of 14 questions endorsed by caregivers (Figure 1). Suggested questions included content about ways to mitigate risk, such as “Is there anything that I can do to prevent SUDEP?” and “What is the safest way for my child to sleep?” Other questions, such as “How do I talk about SUDEP with my child's siblings?” focused on addressing SUDEP with loved ones. Caregivers also sought to know how SUDEP risk would impact the quality of life and activities of daily living, submitting questions such as “What does the risk of SUDEP mean for my child's daily life?” A

New-onset refractory status epilepticus (NORSE) is a rare and devastating clinical entity, often without a clearly identified etiology despite extensive testing or known predisposing neurological disorders.¹ We describe a child with NORSE in the setting of active/recent Bartonella henselae infection who responded well to multiple anticonvulsants, immunomodulatory therapy, and antimicrobial therapy.

A normally developing five-year-old boy with attention deficit/hyperactivity disorder and no history of seizures was found unresponsive with generalized body stiffening and facial twitching. The patient had several days of cough and congestion with no fevers prior to his presentation. Seizures persisted despite repeated doses of benzodiazepines and therapeutic doses of levetiracetam, phenobarbital, and fosphenytoin. Electroencephalography (EEG) showed ictal and peri-ictal discharges in the right posterior and left posterior/lateral head regions consistent with status epilepticus, requiring midazolam infusion. Due to continued status despite up-titration of midazolam, pentobarbital was added to achieve burst suppression.

The patient underwent a broad toxic, metabolic, genetic, infectious disease, and autoimmune evaluation. Rhinovirus/enterovirus RNA was detected on the nasopharyngeal swab, and his cerebrospinal fluid (CSF) sample showed 0/cmm (cubic millimeter) white blood cells, 15/cmm and 38/cmm red blood cells in tubes 1 and 4, respectively, glucose 64 mg/dL, protein 41 mg/dL, negative cultures, and negative herpes simplex virus and enterovirus polymerase chain reaction. In addition to levetiracetam, lacosamide was added to his scheduled antiseizure regimen when pentobarbital was being weaned, and high-dose methylprednisolone was tried on hospital day five for a total of five days. Head computed tomography and magnetic resonance imaging with and without contrast were normal. Two doses of intravenous immunoglobulin (IVIG) were administered on hospital days six and seven. CSF cytokine profile demonstrated elevated interleukin-4 (IL-4) (35 pg/mL), IL-6 (1775 pg/mL), IL-8 (10 816 pg/mL), IL-10 (10 pg/mL), and granulocyte–macrophage colony-stimulating factor (GM-CSF) (4 pg/mL). Clobazam was added when midazolam was being weaned, and anakinra, an IL-1 receptor antagonist, was started at 4 mg/kg/day on hospital day seven. EEG at that point showed focal epileptiform discharges in the left occipital region with continuous background and evidence of state change and reactivity.

Due to cat exposure, serum B. henselae titers were checked, using a pre-IVIG serum sample, and revealed a recent infection (IgM < 1:20; IgG 1:8192) with no signs of lymphadenopathy or neuroretinitis. As a result, antimicrobial therapy with doxycycline and rifampin commenced on hospital day eight for a total of 14 days. Computerized tomography scans of chest, abdomen, and pelvis were unrevealing, and his serum/CSF autoimmune e

Children experiencing violence is an unsettling reality occurring regardless of sex, gender, age, or socioeconomic status.^{1, 2} Each of our communities has friends, neighbors, and coworkers who are overlooked daily despite established factors helping to predict those at risk for experiencing abuse.³ Children present in homes experiencing domestic violence are at increased risk of being harmed, with one in three children being abused.⁴ Physical injuries may be the result of being a primary target, an unintentional bystander, or a human shield.⁵ When forces are directed to the head and neck, abusive head trauma (AHT) and traumatic brain injury (TBI) occur, resulting in chronic, life-altering injuries. The incidence of AHT is challenging to quantify but is suspected to occur in at least 1000–1500 infants per year (in the United States), with a peak incidence in males at 1 year of life (although increased in males ages 0–9 years old).⁶ In the most severe instances, AHT is a leading cause of morbidity and mortality in children under 5 years of age.⁷ Yet TBIs exist on a spectrum of severity. While physical injuries such as bruises and broken limbs are often obvious and dichotomous, repetitive mild traumatic brain injuries (mTBIs) are invisible to the naked eye and may have a delayed onset of signs or symptoms. Often, debilitating symptoms are only realized if inquired about and without any evidence of external, physical injury. Furthermore, children experiencing abuse are more likely to sustain repetitive brain injuries due to prolonged exposure to the abuser. On average, survivors will experience 2–3 years of abuse before they are able to escape the inciting individual.⁸ Survivors of child abuse thus experience a combination of repetitive mTBI, delayed diagnosis, and improper rehabilitation that increases their risk for developing debilitating cognitive, behavioral, and affective disorders. These symptoms make it challenging for children to meet developmental milestones and engage properly at home, in school, and throughout society.

Identifying patients with repetitive mTBI due to child abuse must be an initial step toward caring for all pediatric brain injuries. Recently, athletics has been among the more prominent activities discussed that place children at risk for encountering an mTBI. As a result, children participating in sports have received safeguards that have improved detection, treatment, and rehabilitation of mTBI (i.e., concussions). However, our focus on mTBI occurring in the athletic community has overlooked those experiencing mTBIs through trauma, assaults, and violence. It is estimated that TBIs in the context of domestic violence are at least 12 times higher than occupational, recreational, and accidental events.⁹ Thus, children experien

Brief episodes of involuntary movement triggered by purposeful actions are characteristic of paroxysmal kinesigenic dyskinesia (PKD) and can interfere with daily life.¹ Carbamazepine and oxcarbazepine are effective at reducing episodes but have teratogenic risks that limit their therapeutic potential.² There is limited information describing alternate sodium channel blockers as first-line therapies for PKD, and specifically there is no recommendation for the use of alternative agents for females of childbearing potential. We conducted an institutional retrospective chart review of patients with PKD seen between 2013 and 2022. Our research ethics board approved the identification of participants by diagnostic code in the electronic medical records and waived the requirement for written informed consent.

Both patients reported complete resolution of their events on lamotrigine with recurrence only with missed doses.

We propose lamotrigine as a preferred agent in females of childbearing potential. Pharmacological management of PKD is indicated for frequent, intolerable episodes that interfere with daily life. There are no clinical trials for PKD, so physicians must rely on Class IV evidence to guide management. The literature supports the use of carbamazepine and oxcarbazepine as equivalent first-line agents in the management of PKD.^{1, 3-5}

Lamotrigine has been suggested as a second-line agent for PKD with few reports of use as a first-line agent.^6-8 The largest cohort reported 100% attack-free rate after four weeks of lamotrigine in 18 pre-pubescent children.⁶ Of particular importance is the evidence that carbamazepine and oxcarbazepine can cause rare but significant fetal malformations when used in females of childbearing age, whereas lamotrigine has the lowest risk of fetal malformation.² A recent meta-analysis found a statistically significant increase in major congenital malformations with carbamazepine monotherapy (odds ratio [OR] 1.37) and oxcarbazepine (OR 1.32 *not statistically significant) compared to lamotrigine (OR 0.96).²

The need for an alternative agent in this population is not adequately addressed in the literature. Our experience suggests that lamotrigine is an effective agent in adolescent post-pubertal patients and may be a safe and effective option for females of childbearing potential. Further studies with larger cohorts will be required to investigate lamotrigine's efficacy and tolerability as a first-line agent for PKD and to better understand the effect of pregnancy on PKD and on lamotrigine therapy.

Heather Leduc-Pessah: Conceptualization (supporting); methodology (lead); data curation (lead); writing—original draft (lead); writing—review and editing (equal). Asif Doja: Conceptualization (lead); methodology (supp