PEDIATRICS recent issues

Complete Eats: Summer Meals Offered by the Emergency Department for Food Insecurity

More than 21 million low-income children rely on free or reduced-price meals during the school year. The US Department of Agriculture Summer Food Service Program (SFSP) provides meals to children during the summer months, but these programs are underused. The emergency department (ED) of urban medical centers is 1 of the few establishments that children access during the summer months, and as such, it may be a prime point of entry for such programs. This advocacy case study describes the implementation and evaluation of situating an SFSP in the pediatric ED and explores the impact on participant intention to connect with community resources after the ED visit. In this 7-week pilot, we partnered with a community agency to provide free lunch to all children ages 2 to 18 during their ED visit at an urban, freestanding children’s hospital. After patient rooming and clarification of nil per os status, boxed meals were delivered to patients and siblings along with information regarding the SFSP and how to access community program sites. Parents completed a survey about the experience with the meal program in the ED, previous knowledge of the SFSP, and intention to use community SFSP sites in the future. This case study demonstrates that situating the SFSP in the acute-care clinical setting is acceptable and has strong potential to improve the historically poor connection between families and critical community resources. Additionally, this project highlights the potential of community-clinical partnerships to improve family resources and enhance the reach of established programs.

Food Insecurity and Health Care Use

BACKGROUND AND OBJECTIVES:

Fifteen percent of US children live in households with inadequate food. Children who are food insecure often experience worse physical, emotional, and developmental health outcomes. Authors of previous studies have not examined the quality and cost implications of food insecurity in children.

METHODS:

This is a retrospective study of 7959 nationally representative US children (aged 1–17 years) in the 2016 Medical Expenditure Panel Survey. Households with food insecurity were identified by ≥3 positive responses to the 30-day, 10-item US Food Security Survey. Main outcomes were annual health expenditures and quality of care indicators: emergency department (ED) and inpatient use, primary care and specialist visits, routine medical and dental care, patient experience measures, and school absenteeism. Logistic and 2-part regression models were constructed to estimate outcomes conditional on sociodemographic and medical covariates.

RESULTS:

Children in households with food insecurity were more often publicly insured and had special needs compared with all other children. In multivariable logistic regression, household food insecurity was associated with significantly higher adjusted odds of an ED (adjusted odds ratio [aOR] = 1.37) or primary care treatment visit (aOR = 1.24) during the year. Household food insecurity was associated with significantly higher school absenteeism (aOR = 1.74) and lower access to care for routine (aOR = 0.55) or illness (aOR = 0.57) care. There were no differences in annual health expenditures, hospitalizations, or receipt of routine medical or dental care.

CONCLUSIONS:

Household food insecurity is associated with higher ED use and school absenteeism and lower access to care; however, it was not associated with higher annual health expenditures in children.

Racial Differences in Sepsis Recognition in the Emergency Department

OBJECTIVES:

We assessed racial differences in sepsis recognition in a pediatric emergency department (ED) with an established electronic sepsis alert system.

METHODS:

Quality-improvement data from June 1, 2016 to May 31, 2017 was used in this retrospective cohort study. All ED visits were included for non-Hispanic black (NHB) and non-Hispanic white (NHW) patients. The sepsis pathway was activated through the alert, 2 stages and a huddle, or outside of the alert using clinician judgment alone. We evaluated racial differences in the frequency of alerts and sepsis pathway activation within and outside of the alert. Multivariable regression adjusted for high-risk condition, sex, age, and insurance.

RESULTS:

There were 97 338 ED visits: 56 863 (58.4%) and 23 008 (23.6%) from NHBs and NHWs, respectively. NHWs were more likely than NHBs to have a positive second alert (adjusted odds ratio [aOR] 2.4; 95% confidence interval [CI] 2.1–2.8). NHWs were more likely than NHBs to have the sepsis pathway activated (aOR 1.4; 95% CI 1.02–2.1). Of those treated within the alert, there was no difference in pathway activation (aOR 0.93; 95% CI 0.62–1.4). Of those recognized by clinicians when the alert did not fire, NHWs were more likely than NHBs to be treated (aOR 3.4; 95% CI 1.8–6.4).

CONCLUSIONS:

NHWs were more likely than NHBs to be treated for sepsis, although this difference was specifically identified in the subset of patients treated for sepsis outside of the alert. This suggests that an electronic alert reduces racial differences compared with clinician judgment alone.

Changes in the Management of Children With Brief Resolved Unexplained Events (BRUEs)

BACKGROUND:

In May 2016, the American Academy of Pediatrics published a clinical practice guideline for brief resolved unexplained events (BRUEs). We evaluated for changes in the management of BRUE after guideline publication.

METHODS:

Using a pediatric multicenter administrative database, we compared rates of admission, testing, revisits, and diagnoses in patients diagnosed with a BRUE or apparent life-threatening event (ALTE) during 2017 with rates of admission, testing, revisits, and diagnoses in patients diagnosed with ALTE during 2015. We used interrupted time series analysis to test if the guideline was associated with changes in admission rate for all patients with ALTE or BRUE between 2015 and 2017. We stratified analyses by age (0–60 and 61–365 days).

RESULTS:

A total of 9501 patients were included (5608 in 2015 and 3893 in 2017). The admission rate decreased by 5.7% (95% confidence interval, 3.8% to 7.5%) for infants 0 to 60 days and by 18.0% (95% confidence interval, 15.3% to 20.7%) for infants 61 to 365 days from 2015 to 2017. Patients in 2017 had lower rates of EEG, brain MRI, chest radiography, laboratory testing, and urinalyses compared with patients in 2015. In the interrupted time series analysis model (n = 13 977), guideline publication was associated with decreasing admission rates (0.2% per week) for infants 61 to 365 days (P < .001).

CONCLUSIONS:

Compared with patients evaluated in 2015, patients with BRUE or ALTE in 2017 have lower rate of admissions and testing. Findings may be due to changes in the definition of BRUE and guideline recommendations.

Food Insecurity and Child Health

OBJECTIVES:

Food insecurity is an important public health problem facing children in the United States. Although a number of previous studies suggest that food insecurity has negative impacts on health, these studies have not dealt thoroughly with issues of selection bias. We use propensity scoring techniques to approximate the causal effects of food insecurity on children’s health and health care use outcomes.

METHODS:

We use nationally representative data from the 2013–2016 waves of the National Health Interview Study (N = 29 341). Using inverse probability of treatment weighting, a propensity scoring method, we examine a broad range of child health outcomes and account for a comprehensive set of controls, focusing on a sample of children 2 to 17 years old.

RESULTS:

Household food insecurity was related to significantly worse general health, some acute and chronic health problems, and worse health care access, including forgone care and heightened emergency department use, for children. Compared to rates had they not been food insecure, children in food-insecure household had rates of lifetime asthma diagnosis and depressive symptoms that were 19.1% and 27.9% higher, rates of foregone medical care that were 179.8% higher, and rates of emergency department use that were 25.9% higher. No significant differences emerged for most communicable diseases, such as ear infections or chicken pox, or conditions that may develop more gradually, including anemia and diabetes.

CONCLUSIONS:

Policies used to reduce household food insecurity among children may also reduce children’s chronic and acute health problems and health care needs.

Feasibility and Accuracy of Fast MRI Versus CT for Traumatic Brain Injury in Young Children

BACKGROUND:

Computed tomography (CT) is commonly used for children when there is concern for traumatic brain injury (TBI) and is a significant source of ionizing radiation. Our objective was to determine the feasibility and accuracy of fast MRI (motion-tolerant MRI sequences performed without sedation) in young children.

METHODS:

In this prospective cohort study, we attempted fast MRI in children <6 years old who had head CT performed and were seen in the emergency department of a single, level 1 pediatric trauma center. Fast MRI sequences included 3T axial and sagittal T2 single-shot turbo spin echo, axial T1 turbo field echo, axial fluid-attenuated inversion recovery, axial gradient echo, and axial diffusion-weighted single-shot turbo spin echo planar imaging. Feasibility was assessed by completion rate and imaging time. Fast MRI accuracy was measured against CT findings of TBI, including skull fracture, intracranial hemorrhage, or parenchymal injury.

RESULTS:

Among 299 participants, fast MRI was available and attempted in 225 (75%) and completed in 223 (99%). Median imaging time was 59 seconds (interquartile range 52–78) for CT and 365 seconds (interquartile range 340–392) for fast MRI. TBI was identified by CT in 111 (50%) participants, including 81 skull fractures, 27 subdural hematomas, 24 subarachnoid hemorrhages, and 35 other injuries. Fast MRI identified TBI in 103 of these (sensitivity 92.8%; 95% confidence interval 86.3–96.8), missing 6 participants with isolated skull fractures and 2 with subarachnoid hemorrhage.

CONCLUSIONS:

Fast MRI is feasible and accurate relative to CT in clinically stable children with concern for TBI.

Pneumonia Prevention Strategies for Children With Neurologic Impairment

BACKGROUND:

Children with neurologic impairment (NI) face high risk of recurrent severe pneumonia, with prevention strategies of unknown effectiveness. We evaluated the comparative effectiveness of secondary prevention strategies for severe pneumonia in children with NI.

METHODS:

We included children enrolled in California Children’s Services between July 1, 2009, and June 30, 2014, with NI and 1 pneumonia hospitalization. We examined associations between subsequent pneumonia hospitalization and expert-recommended prevention strategies: dental care, oral secretion management, gastric acid suppression, gastrostomy tube placement, chest physiotherapy, outpatient antibiotics before index hospitalization, and clinic visit before or after index hospitalization. We used a 1:2 propensity score matched model to adjust for covariates, including sociodemographics, medical complexity, and severity of index hospitalization.

RESULTS:

Among 3632 children with NI and index pneumonia hospitalization, 1362 (37.5%) had subsequent pneumonia hospitalization. Only dental care was associated with decreased risk of subsequent pneumonia hospitalization (adjusted odds ratio [aOR]: 0.64; 95% confidence interval [CI]: 0.49–0.85). Exposures associated with increased risk included gastrostomy tube placement (aOR: 2.15; 95% CI: 1.63–2.85), chest physiotherapy (aOR: 2.03; 95% CI: 1.29–3.20), outpatient antibiotics before hospitalization (aOR: 1.42; 95% CI: 1.06–1.92), clinic visit before (aOR: 1.30; 95% CI: 1.11–1.52), and after index hospitalization (aOR: 1.72; 95% CI: 1.35–2.20).

CONCLUSIONS:

Dental care was associated with decreased recurrence of severe pneumonia. Several strategies, including gastrostomy tube placement, were associated with increased recurrence, possibly due to unresolved confounding by indication. Our results support a clinical trial of dental care to prevent severe pneumonia in children with NI.

Neonatal CPAP for Respiratory Distress Across Malawi and Mortality

OBJECTIVES:

Our aim in this observational study was to monitor continuous positive airway pressure (CPAP) usage and outcomes in newborn wards at 26 government hospitals in Malawi after the introduction of CPAP as part of a quality-improvement initiative. CPAP was implemented in 3 phases from 2013 through 2015.

METHODS:

Survival to discharge was analyzed for neonates treated with nasal oxygen and/or CPAP with admission weights of 1 to 2.49 kg at 24 government hospitals with transfer rates <15%. This analysis includes neonates admitted with respiratory illness for 5.5 months before (621 neonates) and 15 months immediately after CPAP implementation (1836 neonates). A follow-up data analysis was completed for neonates treated with CPAP at all hospitals during an additional 11 months (194 neonates).

RESULTS:

On implementation of CPAP, survival to discharge improved for all neonates admitted with respiratory distress (48.6% vs 54.5%; P = .012) and for those diagnosed with respiratory distress syndrome (39.8% vs 48.3%; P = .042). There were no significant differences in outcomes for neonates treated with CPAP during the implementation and follow-up periods. Hypothermia on admission was pervasive and associated with poor outcomes. Neonates with normal mean temperatures during CPAP treatment experienced the highest survival rates (65.7% for all neonates treated with CPAP and 60.0% for those diagnosed with respiratory distress syndrome).

CONCLUSIONS:

A nurse-led CPAP service can improve outcomes for neonates in respiratory distress in low-resource settings. However, the results show that real-world improvements in survival may be limited without access to comprehensive newborn care, especially for small and sick infants.

A Pivotal Response Treatment Package for Children With Autism Spectrum Disorder: An RCT

OBJECTIVES:

Our aim was to conduct a randomized controlled trial to evaluate a pivotal response treatment package (PRT-P) consisting of parent training and clinician-delivered in-home intervention on the communication skills of children with autism spectrum disorder.

METHODS:

Forty-eight children with autism spectrum disorder and significant language delay between 2 and 5 years old were randomly assigned to PRT-P (n = 24) or the delayed treatment group (n = 24) for 24 weeks. The effect of treatment on child communication skills was assessed via behavioral coding of parent-child interactions, standardized parent-report measures, and blinded clinician ratings.

RESULTS:

Analysis of child utterances during the structured laboratory observation revealed that, compared with the delayed treatment group, children in PRT-P demonstrated greater improvement in frequency of functional utterances (F1,41 = 6.07; P = .026; d = 0.61). The majority of parents in the PRT-P group (91%) were able to implement pivotal response treatment (PRT) with fidelity within 24 weeks. Children receiving PRT-P also demonstrated greater improvement on the Brief Observation of Social Communication Change, on the Clinical Global Impressions Improvement subscale, and in number of words used on a parent-report questionnaire.

CONCLUSIONS:

This is the first 24-week randomized controlled trial in which community treatment is compared with the combination of parent training and clinician-delivered PRT. PRT-P was effective for improving child social communication skills and for teaching parents to implement PRT. Additional research will be needed to understand the optimal combination of treatment settings, intensity, and duration, and to identify child and parent characteristics associated with treatment response.

24-Hour Movement Behaviors and Impulsivity

BACKGROUND:

The objective of this study was to examine individual and concurrent associations between meeting the Canadian 24-Hour Movement Guidelines for Children and Youth (9–11 hours of sleep per night, ≤2 hours of recreational screen time (ST) per day, and at least 60 minutes of moderate to vigorous physical activity per day) and dimensions of impulsivity.

METHODS:

Data from this cross-sectional observational study were part of the first annual curated release of the Adolescent Brain Cognitive Development Study. Participants included 4524 children between the ages of 8 and 11 years.

RESULTS:

In analyses, it was shown that adherence to individual movement behavior recommendations as well as combinations of adherence to movement behavior recommendations were associated with each dimension of impulsivity. Meeting all 3 movement behavior recommendations was associated with lower positive urgency (95% confidence interval [CI]: –0.12 to –0.05), negative urgency (95% CI: –0.04 to –0.08), Behavioral Inhibition System (95% CI: –0.08 to –0.01), greater perseverance (95% CI: 0.09 to 0.15), and better scores on delay-discounting (95% CI: 0.57 to 0.94). Meeting the ST and sleep recommendations was associated with less impulsive behaviors on all dimensions of impulsivity: negative urgency (95% CI: –0.20 to –0.10), positive urgency (95% CI: –0.16 to –0.08), perseverance (95% CI: 0.06 to 0.15), Behavioral Inhibition System (95% CI: –0.15 to –0.03), Behavioral Activation System (BAS) reward responsiveness (95% CI: –0.04 to –0.05), BAS drive (95% CI: –0.14 to –0.06), BAS fun-seeking (95% CI: –0.15 to –0.17), and delay-discounting task (95% CI: 0.68 to 0.97).

CONCLUSIONS:

Findings support efforts to determine if limiting recreational ST while promoting adequate sleep enhances the treatment and prevention of impulsivity-related disorders.

Maternal Voice and Infant Sleep in the Neonatal Intensive Care Unit

BACKGROUND:

Approximately 10% of US newborns require a NICU. We evaluated whether the NICU acoustic environment affects neonatal sleep and whether exposure to the mother’s voice can modulate that impact.

METHODS:

In a level IV NICU with single-infant rooms, 47 neonates underwent 12-hour polysomnography. Their mothers were recorded reading children’s books. Continuous maternal voice playback was randomized to either the first or second 6 hours of the polysomnogram. Regression models were used to examine sleep-wake stages, entropy, EEG power, and the probability of awakening in response to ambient noise during and without voice playback.

RESULTS:

After epochs with elevated noise, the probability was higher with (versus without) maternal voice exposure of neonates staying asleep (P = .009). However, the 20 neonates born at ≥35 weeks’ gestation, in contrast to those born at 33 to 34 weeks, showed an age-related increase in percent time awake (R2 = 0.52; P < .001), a decrease in overall sleep (R2 = 0.52; P < .001), a reduction in rapid eye movement sleep bouts per hour (R2 = 0.35; P = .003), and an increase in sleep-wake entropy (R2 = 0.52; P < .001) all confined solely to the 6 hours of maternal voice exposure. These associations remained significant (P = .02 to P < .001) after adjustment for neurologic examination scores and ambient noise.

CONCLUSIONS:

Hospitalized newborns born at ≥35 weeks’ gestation but not at 33 to 34 weeks’ gestation show increasing wakefulness in response to their mother’s voice. However, exposure to the mother’s voice during sleep may also help protect newborns from awakening after bursts of loud hospital noise.

Celecoxib as a Potential Treatment for Intractable Lymphatic Malformation

Lymphatic malformation (LM) is a congenital disorder resulting from an abnormal development of lymphatic vessels. LM may result in problems of cosmesis and functional impairment, including airway compression. An 11-year-old girl was referred to our department with increasing dysphagia caused by a large left cervical LM with a long history of treatment. Because of the LM location, surgical resection was not an option, and various therapies, including use of picibanil, had proven ineffective. Celecoxib treatment (100 mg/day) was initiated for local pain management. Softening of the lesion was observed 2 weeks after treatment initiation, and the dose was increased to 200 mg/day with additional shrinking of the LM over the next 2 weeks. With parental consent, celecoxib was continued, with a 65% reduction in volume achieved at 6 months. The patient discontinued treatment at 12 months, and the LM volume increased. Control over the LM was achieved with resumption of celecoxib treatment. After 2 years of treatment, the LM persists, but the size of the malformation is significantly smaller. No adverse effects of celecoxib treatment were observed. The anti–cyclooxygenase-2 effect of celecoxib prevented lymphatic vessel growth through an inhibition of cyclooxygenase-2 activity in the conversion of prostaglandin to prostaglandin E2. In conclusion, celecoxib may be a promising therapeutic agent for LM management.

Cannabis Concentrate Use in Adolescents

BACKGROUND:

Cannabis concentrates, which are cannabis plant extracts that contain high concentrations of -9-tetrahydrocannbinol (THC), have become increasingly popular among adults in the United States. However, no studies have reported on the prevalence or correlates of cannabis concentrate use in adolescents, who, as a group, are thought to be particularly vulnerable to the harms of THC.

METHODS:

Participants are a racially and ethnically diverse group of 47 142 8th-, 10th-, and 12th-grade students recruited from 245 schools across Arizona in 2018. Participants reported on their lifetime and past-month marijuana and cannabis concentrate use, other substance use, and risk and protective factors for substance use problems spanning multiple life domains (ie, individual, peer, family, school, and community).

RESULTS:

Thirty-three percent of all 8th-, 10th-, and 12th-graders reported lifetime cannabis use, and 24% reported lifetime concentrate use. Seventy-two percent of all lifetime cannabis users had used concentrates. Relative to adolescent cannabis users who had not used concentrates, adolescent concentrate users were more likely to use other substances and to experience more risk factors, and fewer protective factors, for substance use problems across numerous life domains.

CONCLUSIONS:

Most adolescent cannabis users have used concentrates. Based on their risk and protective factor profile, adolescent concentrate users are at higher risk for substance use problems than adolescent cannabis users who do not use concentrates. Findings raise concerns about high-risk adolescents’ exposure to high-THC cannabis.

A Discharge Vital Sign Documentation Improvement Initiative in the Pediatric Emergency Department

BACKGROUND AND OBJECTIVES:

Vital signs are important data elements in the pediatric emergency department (PED). The presence of unexplained tachycardia at discharge has been associated with patient return to the PED and subsequent admission. Our aim for this study was to increase the percentage of patients discharged with a complete set of vital signs, when indicated, from 22% to 95% by June 30, 2018.

METHODS:

A multidisciplinary team developed key drivers, and data were collected by using a retrospective chart review. Outcome measures were the percentage of patients with discharge vital signs and 72-hour returns to the PED. Balancing measures included PED length of stay (LOS) and hospital admissions. Data were compiled from a chart review 7 times monthly; all charts were of patients presenting to the PED during the days being reviewed. An annotated p-chart was used to analyze the data.

RESULTS:

Data were collected for 18 months, including baseline data from July to September 2017, during which time 22% of patients had discharge vital signs. Targeted quality improvement methodology initially improved discharge vital signs to 41%, and then to 85%, which has been sustained for 7 months. There was no change in 72-hour return PED visits or LOS. Although absolute hospitalizations remained stable, the percentage of patients admitted increased.

CONCLUSIONS:

Targeted quality improvement methodology is associated with sustained improvement of indicated discharge vital signs for patients discharged from the PED. This improvement was not associated with reduced return PED visits, prolonged LOS, or increased hospitalization.

Invasive Pneumococcal Disease in Childrens Hospitals: 2014-2017

BACKGROUND:

The 13-valent pneumococcal conjugate vaccine (PCV13) was licensed in the United States in 2010. We describe invasive pneumococcal disease (IPD) in children at 8 children’s hospitals in the US from 2014 to 2017.

METHODS:

Children with IPD occurring from 2014 to 2017 were identified from a prospective study. Demographic and clinical data, including results of any immune evaluation along with the number and dates of previous pneumococcal conjugate vaccines administered, were recorded on case report forms. Isolate serotypes were determined in a central laboratory. Pneumococcal conjugate vaccine doses were counted if IPD occurred ≥2 weeks after a dose.

RESULTS:

PCV13 serotypes accounted for 23.9% (115 out of 482) of IPD isolates from 2014 to 2017. Serotypes 3, 19A, and 19F accounted for 91% of PCV13 serotypes. The most common non-PCV13 serotypes were 35B, 23B, 33F, and 22F. An underlying condition was significantly (P < .0001) more common in children with IPD due to non-PCV13 serotypes (200 out of 367, 54.5%) than for children with PCV13 serotypes (27 out of 115, 23.5%). An immune evaluation was undertaken in 28 children who received ≥2 PCV13 doses before IPD caused by a PCV13 serotype. Only 1 was found to have an immunodeficiency.

CONCLUSIONS:

PCV13 serotypes (especially serotypes 3, 19A, and 19F) continue to account for nearly a quarter of IPD in US children 4 to 7 years after PCV13 was introduced. Underlying conditions are more common in children with non-PCV13 serotype IPD. Immune evaluations in otherwise healthy children with PCV13 serotype IPD despite receiving ≥2 PCV13 doses did not identify an immunodeficiency.

Emergency Department Pediatric Readiness and Mortality in Critically Ill Children

BACKGROUND:

Emergency departments (EDs) vary in their level of readiness to care for pediatric emergencies. We evaluated the effect of ED pediatric readiness on the mortality of critically ill children.

METHODS:

We conducted a retrospective cohort study in Florida, Iowa, Massachusetts, Nebraska, and New York, focusing on patients aged 0 to 18 years with critical illness, defined as requiring intensive care admission or experiencing death during the encounter. We used ED and inpatient administrative data from the Agency for Healthcare Research and Quality’s Healthcare Cost and Utilization Project linked to hospital-specific data from the 2013 National Pediatric Readiness Project. The relationship between hospital-specific pediatric readiness and encounter mortality in the entire cohort and in condition-specific subgroups was evaluated by using multivariable logistic regression and fractional polynomials.

RESULTS:

We studied 20 483 critically ill children presenting to 426 hospitals. The median weighted pediatric readiness score was 74.8 (interquartile range: 59.3–88.0; range: 29.6–100). Unadjusted in-hospital mortality decreased with increasing readiness score (mortality by lowest to highest readiness quartile: 11.1%, 5.4%, 4.9%, and 3.4%; P < .001 for trend). Adjusting for age, chronic complex conditions, and severity of illness, presentation to a hospital in the highest readiness quartile was associated with decreased odds of in-hospital mortality (adjusted odds ratio compared with the lowest quartile: 0.25; 95% confidence interval: 0.18–0.37; P < .001). Similar results were seen in specific subgroups.

CONCLUSIONS:

Presentation to hospitals with a high pediatric readiness score is associated with decreased mortality. Efforts to increase ED readiness for pediatric emergencies may improve patient outcomes.

Fragile Females: Case Series of Epilepsy in Girls With FMR1 Disruption

Girls with pathogenic variants in FMR1, the gene responsible for Fragile X syndrome, have received relatively little attention in the literature. The reports of girls with trinucleotide expansions or deletions affecting FMR1 describe variable phenotypes; having normal intelligence and no severe neurologic sequelae is not uncommon. We reviewed epilepsy genetics research databases for girls with FMR1 pathogenic variants and seizures to characterize the spectrum of epilepsy phenotypes. We identified 4 patients, 3 of whom had drug-resistant focal epilepsy. Two had severe developmental and epileptic encephalopathy with late-onset epileptic spasms. Our findings demonstrate that FMR1 loss-of-function variants can result in severe neurologic phenotypes in girls. Similar cases may be missed because clinicians may not always perform Fragile X testing in girls, particularly those with severe neurodevelopmental impairment or late-onset spasms.

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