Bilateral loss of cortical SEPs predict severe MRI lesions in neonatal hypoxic ischemic encephalopathy treated with hypothermia.

OBJECTIVE: The introduction of therapeutic hypothermia for neonatal hypoxic-ischemic encephalopathy calls for reevaluation of the prognostic role of somatosensory evoked potentials (SEPs). METHODS: Among 80 consecutive neonates undergoing hypothermia for hypoxic-ischemic encephalopathy, 58 performed SEPs and MRI at 4-14 days of life and were recruited in this multicenter study. SEPs were scored as: 0 (bilaterally/unilaterally recorded N20) or 1 (bilaterally absent N20). The severity of brain injury was scored using MRI. RESULTS: Bilaterally absent N20 was observed in 10/58 neonates (17%); all had moderate/severe MRI abnormalities; 36/48 neonates (75%) with score 0 at SEPs had normal MRI. The positive predictive value of SEPs on MRI outcome was of 1.00, while the negative predictive value 0.72, sensitivity 0.48, specificity 1.00, with an accuracy of 0.78 (p < .001). CONCLUSIONS: Bilateral absence of cortical SEPs predicts moderate/severe MRI pattern of injury. SIGNIFICANCE: Therapeutic hypothermia does not seem to significantly affect prognostic reliability of SEPs.

Spectral analysis highlight developmental EEG changes in preterm infants without overt brain damage.

Early markers of neurological outcome in the absence of overt brain damage are scarce in extreme prematurity. The aim of this study was to compare spectral EEG values of infants born near term with those of infants born at extremely low gestational age (ELGA) but having attained near term age. We aimed also to evaluate whether spectral EEG features were related with neurological outcome. The ELGA group consisted of 12 neonates born between 23+2 and 27+6 weeks; the control group consisted of nine infants born 34-35+2 weeks, tested within the first week of life. All neonates underwent multichannel EEG recordings at 35 weeks post-conception. None of the subjects had apparent neurological abnormalities or risk factors at the time of recording. EEG data were transformed into the frequency domain and divided into delta (0.5-4Hz), theta (5-7Hz), alpha (8-13Hz), beta (14-20Hz) frequency bands; relative EEG power values were calculated. ELGA group was compared with the control group using a mixed analysis of variance. Outcome was evaluated at one year of age by Griffiths' scales. A principal effect of frequency and an interaction effect of frequency * group was found. The total relative power of the delta band was significantly higher in ELGA than in control group, whereas in the remaining frequency bands total relative power was lower in ELGA than in control group. Higher values of delta and lower values of alpha and beta spectral power correlated with poor outcome. We provide preliminary results suggesting that, as early as 35 weeks post conception, infants born extremely preterm fail to develop the age specific pattern of EEG spectral activity, in the absence of neurological neonatal risk.

Neonatal Cortical Auditory Evoked Potentials Are Affected by Clinical Conditions Occurring in Early Prematurity.

PURPOSE: Cortical auditory evoked potentials may serve as an early indicator of developmental problems in the auditory cortex. The aim of the study was to determine the effect on neonatal cortical auditory processing of clinical conditions occurring in early prematurity. METHODS: Sixty-seven preterm infants born at 29 weeks mean gestational age (range, 23-34 weeks) were recorded at a mean postconception age of 35 weeks, before discharge from the third level neonatal intensive care unit. The average of 330 responses to standard 1000 Hz pure tones delivered in an oddball paradigm was recorded at frontal location. Data of 45 of 67 recruited premature infants were available for analysis. Mean amplitudes calculated from the data points of 30 milliseconds centered on P1 and N2 peaks in the waveforms of each subject were measured. The effect of perinatal clinical factors on cortical auditory evoked responses was evaluated. RESULTS: The amplitude of P1 component was significantly lower in infants with bronco-pulmonary dysplasia (P = 0.004) and retinopathy of prematurity (P = 0.03). The multivariate analysis, done to evaluate the relative weight of gestational age and bronco-pulmonary dysplasia and/or retinopathy of prematurity on cortical auditory evoked potentials components, showed an effect of clinical factors on P1 (P = 0.005) and of gestational age on N2 (P = 0.02). CONCLUSIONS: Cortical auditory processing seems to be influenced by clinical conditions complicating extremely preterm birth.

Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy.

BACKGROUND: 14q12 deletions, including the Forkhead Box G1 (FOXG1) gene and point mutations of this gene, are associated with a complex encephalopathy described as a congenital variant of Rett syndrome. A mixture of jerks, athetosis, chorea, and dystonia is observed early in life in many patients. The aim of this article is to report on the spectrum of movement disorders associated with FOXG1 haploinsufficiency, as described in the literature. PATIENTS AND METHODS: We provide a review of the cases reported in the literature, adding two new patients. We searched for a comprehensive set of clinical features, including age at onset and semiology of the movement disorder, occurrence and type of stereotypies, and neurological outcome. RESULTS: A total of 51 cases were included in our study. Nonepileptic abnormal movements occurred in 33 cases, often variably combined and presenting during the first year of life. CONCLUSION: The neurological phenotype of FOXG1 haploinsufficiency shows the features of a dyskinetic encephalopathy of infancy.

Long-term neurocognitive outcome and quality of life in pediatric acute disseminated encephalomyelitis.

BACKGROUND: Acute disseminated encephalomyelitis is an inflammatory-demyelinating disorder of the central nervous system usually with a monophasic course and a favorable neurological outcome. Long-term neurocognitive sequelae and quality of life have not yet been fully investigated. AIM: To examine neurocognitive outcome and quality of life in pediatric monophasic acute disseminated encephalomyelitis. METHODS: Of the 36 patients diagnosed with acute disseminated encephalomyelitis at our institution, six were lost to follow-up and eight relapsed (two with multiphasic forms and six with multiple sclerosis). The outcome of the 22 remaining patients was evaluated using four subscales of the Wechsler Intelligence Scales for estimation of IQ, a battery of neuropsychological tests, and semistructured and PedsQL questionnaires for quality of life. The effect of age at onset, neuroradiological recovery, and time elapsed from the acute event on outcome was also investigated. RESULTS: Estimated IQ, neuropsychological mean group scores, and quality of life at follow-up were within the normal range, but 23% of the patients had pathological scores in various neuropsychological functions, among which attention was the most clearly affected. The neuroradiological recovery was not correlated with the result of the neuropsychological tests. Age at onset correlated with linguistic skills, whereas the time elapsed from the acute event had a significant effect on attention tasks: scores were worse in the group of patients with a follow-up shorter than 7 years. CONCLUSION: Our results suggest that pediatric monophasic acute disseminated encephalomyelitis has a favorable neurocognitive outcome. Patients with longer follow-up had a better outcome, suggesting a neurocognitive course that is different from that of multiple sclerosis and a potential for long-term recovery of affected functions.

The role of visual electrophysiology in mucopolysaccharidoses.

Visual electrophysiological techniques represent excellent means for assessing retinal, optic pathways and visual cortex function. Electroretinograms, visual evoked potentials, and clinical records of 17 patients with mucopolysaccharidosis registered in the neurophysiological database of our institution were reviewed retrospectively. Ten patients were on enzyme replacement therapy, 2 underwent bone marrow transplantation, one also keratoplasty. Changes in the electroretinogram pointed to the diagnosis of retinal dystrophy type rod-cone in 8 patients. In patients in whom severe corneal clouding precluded fundus oculi inspection and at an early stage before typical fundus appearance diagnosis was possible only using the electroretinogram. Visual evoked potentials were useful to confirm the loss of visual function in patients difficult to test clinically. The authors suggest the use of electroretinogram and visual evoked potentials primarily as research tools to describe the natural history and ophthalmologic outcome in mucopolysaccharidoses, although they may have clinical utility in very selected cases.

The role of visual evoked potentials in the differential diagnosis of functional visual loss and optic neuritis in children.

This study aims to determine whether visual evoked potentials can aid the diagnosis of functional visual loss and differentiate it from optic neuritis in children. The medical records and visual evoked potentials of 72 patients registered in the neurophysiological database of our Institution in the period 2000-2009, with diagnoses of functional visual loss or optic neuritis were reviewed retrospectively. In 61 children, visual evoked potentials confirmed the diagnosis: 49 functional visual loss and 12 optic neuritis. Visual evoked potentials were normal in all patients but 1 in the functional visual loss group, while all were abnormal in the optic neuritis group. Overlapping clinical features occurred between the 2 groups as well as prevalent severe visual loss, relative afferent pupillary defect, and papillitis in optic neuritis. Visual evoked potentials are of value in confirming clinical suspicion of functional visual loss, particularly when clinical overlap with optic neuritis occurs.

Umbilical arterial necrotic vasculopathy associated with fetal ascites.

Immune and nonimmune neonatal ascites may be part of hydrops fetalis or may be an isolated finding. However, a significant percentage of nonimmune ascites do not have an identifiable pathogenesis and are considered idiopathic. We report a case of fetal ascites and umbilical arterial necrotic vasculopathy, an association not previously described.