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Leukodystrophies are a group of genetically determined disorders that affect development or maintenance of central nervous system myelin. Leukodystrophies have an incidence of at least 1 in 4700 live births and significant morbidity and elevated risk of early death. This report includes a discussion of the types of leukodystrophies; their prevalence, clinical presentation, symptoms, and diagnosis; and current and future treatments. Leukodystrophies can present at any age from infancy to adulthood, with variability in disease progression and clinical presentation, ranging from developmental delay to seizures to spasticity. Diagnosis is based on a combination of history, examination, and radiologic and laboratory findings, including genetic testing. Although there are few cures, there are significant opportunities for care and improvements in patient well-being. Rapid advances in imaging and diagnosis, the emergence of and requirement for timely treatments, and the addition of leukodystrophy screening to newborn screening, make an understanding of the leukodystrophies necessary for pediatricians and other care providers for children.

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.

OBJECTIVES: We assessed the adherence to neuroimaging guidelines and the diagnostically relevant yield of neuroimaging in newly presenting early life epilepsy (ELE). METHODS: There were 775 children with a new diagnosis of epilepsy ( RESULTS: Of 725 children (93.5%) with neuroimaging, 714 had an MRI (87% with seizure protocols) and 11 had computed tomography or ultrasound only. Etiologically relevant abnormalities were present in 290 individuals (40%) and included: an acquired injury in 97 (13.4%), malformations of cortical development in 56 (7.7%), and other diffuse disorders of brain development in 51 (7.0%). Neuroimaging was abnormal in 160 of 262 (61%) children with abnormal development at diagnosis versus 113 of 463 (24%) children with typical development. Neuroimaging abnormalities were most common in association with focal seizure semiology (40%), spasms (47%), or unclear semiology (42%). In children without spasms or focal semiology with typical development, 29 of 185 (16%) had imaging abnormalities. Pathogenic genetic variants were identified in 53 of 121 (44%) children with abnormal neuroimaging in whom genetic testing was performed. CONCLUSIONS: Structural abnormalities occur commonly in ELE, and adherence to neuroimaging guidelines is high at US pediatric epilepsy centers. These data support the universal adoption of imaging guidelines because the yield is substantially high, even in the lowest risk group.

BACKGROUND. Conventional electroencephalography remains the gold standard for the diagnosis and quantification of neonatal seizures. However, amplitude-integrated electroencephalography (aEEG) is being introduced to neonatal intensive care as an adjunct for neonatal seizure detection. OBJECTIVES. This study's purpose was to determine the sensitivity of neonatal seizure detection in a single electroencephalogram channel (C3→C4), used to simulate the raw signal from which aEEG is derived. We also aimed to determine the sensitivity of seizure detection by neonatologists by using aEEG and to establish those neonatal seizure characteristics that are associated with their correct detection by aEEG. METHODS. Conventional electroencephalograms with neonatal seizures were reviewed for electroencephalogram background and neonatal seizure characteristics (site of onset, duration, and peak-to-peak amplitude). The presence, duration, and peak-to-peak amplitude of each seizure were simultaneously noted in a single electroencephalogram channel (C3→C4). aEEGs generated from this channel were reviewed for background and seizures by 6 neonatologists with varying aEEG interpretation expertise. RESULTS. A total of 851 neonatal seizures from 125 conventional electroencephalograms were analyzed. The patients' conceptional ages were 34 to 50 weeks. Because 94% of the conventional electroencephalograms had ≥1 neonatal seizure visible in C3→C4, and 78% of all neonatal seizures appeared in the C3→C4 channel, the theoretical sensitivity of seizure detection in a single electroencephalogram channel was high. However, seizures were briefer and lower in amplitude in C3→C4 compared with conventional electroencephalography. Neonatologists identified seizures in 22% to 57% of the 125 records of neonatal seizure. They detected 12% to 38% of the 851 individual seizures. Multivariate analysis revealed that the appearance of seizures in C3→C4, neonatal seizure duration, seizure amplitude, seizure count per hour, and neonatologists' experience with aEEG interpretation all correlated with neonatal seizure detection. CONCLUSIONS. Even among physicians who have extensive experience, many neonatal seizures are difficult to detect on an aEEG, especially when they are infrequent, brief, or of low amplitude.