Aims: To investigate blood pressure (BP) in children with sleep disordered breathing (SDB). Methods: BP was measured during single night polysomnography in 23 suspected SDB child patients with adenotonsillar hypertrophy, but without respiratory or heart failure, or coma. The age related changes of the observed BP were normalised to the BP index. The BP indices were examined in relation to SDB measures, such as the desaturation time (percentage of time with oxygen saturation (SaO 2 ) <90% against the total sleep time), SaO 2 nadir, apnoea-hypopnoea index (AHI), and arousal index, in addition to age and body mass index (BMI). Results: The systolic BP index during rapid eye movement sleep (REMS) tended to correlate with AHI, while the diastolic index during REM sleep showed a significant correlation with AHI. The BP indices during non-REMS and wakefulness showed no correlation with the parameters obtained. Patients with an AHI of 10 or more (n = 7, AHIhigh) had significantly higher systolic and diastolic BP indices during both wakefulness and REMS, compared with those with an AHI of less than 10 (n = 16, AHIlow). Two patients in AHIhigh showed no sleep related dip of diastolic BP, and three patients in AHIlow lacked the sleep related dip in systolic BP. By means of multiple regression analysis, age, BMI, and AHI were found to be significant predictor variables of the systolic BP index during REMS. Conclusions: BP in paediatric SDB patients is positively correlated with the degree of SDB.

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We quantified postnatal changes in brainstem serotonin 1

Mutations in the X-linked MECP2 gene cause Rett syndrome, a neurodevelopmental disorder that exclusively affects girls. Females with the MECP2 mutations exhibit a broad spectrum of clinical presentations ranging from classical Rett syndrome to asymptomatic carriers, which can be explained by differences in X chromosome inactivation (XCI). Here, we report a family with a girl with Rett syndrome in whom a novel missense mutation in the MECP2 gene was transmitted through the maternal germ line. The carrier mother was asymptomatic and presented non-random XCI in the peripheral blood cells, which resulted in the X chromosome harboring the mutant allele that was predominantly active. Thus, the presence of non-random XCI in the peripheral blood cells did not provide an explanation for the normal phenotype of the carrier mother. This result suggests that mechanisms other than XCI may contribute to the phenotypic heterogeneity associated with MECP2 mutations.