Because of its multiple involvement in physiological processes, autonomic nervous system (ANS) activity, a key regulator of homeostatic control, demonstrates a progressive increase during pregnancy. The profile of its maturation, mainly in the parasympathetic arm, in premature or full term infants, may help us to better understand its pathophysiological role. We prospectively evaluated ANS maturity in a group of 23 premature (PREM) infants at their theoretical term age and in 8 full term (FT) newborns. All recordings were registered close to the theoretical full term period (from 38 to 41 weeks) for the PREM group and during the first week of life for the FT newborns. Polygraphic recordings, EEG monitoring associated with visual clinical control, and Holter ECG, were performed simultaneously. ANS indices were then calculated during quiet sleep periods, using Wavelet transform of RR (beat to beat) intervals. High frequency components were found to be significantly lower in the PREM than in the FT group (p<0.05). Furthermore, at theoretical full term age, the greater the prematurity, the lower was parasympathetic activity. Because it is easy, monitoring of parasympathetic activity may help us to understand autonomic maturation and its clinical prognostic implications.

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Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive development has been reported historically, with developmental delays of varying degree. Currently, earlier diagnosis and improved management allow a better neurodevelopment, without requirement of special education. However, specific impairments can be observed, and so far, results of detailed neurocognitive assessments are not available. The aim of this study was to analyse neurocognitive profiles of French MSUD patients. This was a multicentre retrospective study on MSUD patients who underwent neurocognitive evaluation at primary school age. Twenty-one patients with classical neonatal onset MSUD were included. The patients' mean age at the time of evaluation was 8.7 years. The mean intellectual quotient (IQ) score was in the normal range (95.1 ± 12.6). In a subset of eight patients, a consistent developmental pattern of higher verbal than performance IQ was observed (mean of the difference 25.7 ± 8.7, p < 0.0001). No correlation could be established between this pattern and long-term metabolic balance (BCAA blood levels), or severity of acute metabolic imbalances, or leucine blood levels at diagnosis and time to toxin removal procedure. These data show that some MSUD patients may exhibit an abnormal neurocognitive profile with higher verbal than performance abilities. This might suggest an executive dysfunction disorder that would need to be further investigated by specialized testing. This pattern is important to detect in MSUD, as appropriate neuropsychological treatment strategies should be proposed.