Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey.

Pathogenic loss-of-function variants in the IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause intellectual disability with Rett syndrome (RTT)-like features. The aim of this study was to obtain systematic information on the natural history and extra-central nervous system (CNS) manifestations for the Italian IQSEC2 population (>90%) by using structured family interviews and semi-quantitative questionnaires. IQSEC2 encephalopathy prevalence estimate was 7.0 to 7.9 × 10-7. Criteria for typical RTT were met in 42.1% of the cases, although psychomotor regression was occasionally evidenced. Genetic diagnosis was occasionally achieved in infancy despite a clinical onset before the first 24 months of life. High severity in both the CNS and extra-CNS manifestations for the IQSEC2 patients was documented and related to a consistently adverse quality of life. Neurodevelopmental delay was diagnosed before the onset of epilepsy by 1.8 to 2.4 years. An earlier age at menarche in IQSEC2 female patients was reported. Sleep disturbance was highly prevalent (60 to 77.8%), with mandatory co-sleeping behavior (50% of the female patients) being related to de novo variant origin, younger age, taller height with underweight, better social interaction, and lower life quality impact for the family and friends area. In conclusion, the IQSEC2 encephalopathy is a rare and likely underdiagnosed developmental encephalopathy leading to an adverse life quality impact.

Options in Pregnancy to Increase ActiveLy Sitting (OPALS) Feasibility Study.

BACKGROUND: A negative association between obesity and pregnancy outcomes has been described, as well as between time sedentary and pregnancy outcomes. Most interventions based on physical activity involving obese pregnant women have failed in improving pregnancy outcomes. Exchanging time spent in sedentary activities with time spent in light-intensity activities, performed in a home-based setting, might help morbidly obese pregnant women. We aimed to assess the feasibility of an exercise intervention. METHODS: An exercise intervention for morbidly obese pregnant women was designed involving morbidly obese pregnant women. Pregnant women with BMI ≥ 40 kg/m² with 20 or less weeks of gestation were invited to take part in the OPALS Feasibility Study. A home-based approach was employed. Participants were asked to perform the intervention for at least 12 weeks, and to register their performance in an activity diary. After the intervention, participants were asked to return the activity diary and answer a feasibility questionnaire. RESULTS: In the intervention, 28 participants took part. Six women completed the intervention for 12 weeks or more. All declared they intended to keep on doing the intervention. All women reported that the exercises made them feel better. CONCLUSION: Empowering, and involving morbidly obese pregnant women in taking care of themselves and giving them realistic tasks to do on their own and around their environment helps to increase commitment, as does avoiding the effect of their own weight whilst exercising. A 20% of compliance was observed in this study, which might be explained by the difficulties that pregnancy and excess weight mean. Thus, for future studies, we suggest adding a supervision plan to increase that number.

Sedentary behaviours during pregnancy: a systematic review.

BACKGROUND: In the general population, at least 50% of time awake is spent in sedentary behaviours. Sedentary behaviours are activities that expend less energy than 1.5 metabolic equivalents, such as sitting. The amount of time spent in sedentary behaviours is a risk factor for diseases such as type 2 diabetes, cardiovascular disease, and death from all causes. Even individuals meeting physical activity guidelines are at a higher risk of premature death and adverse metabolic outcomes if they sit for extended intervals. The associations between sedentary behaviour with type 2 diabetes and with impaired glucose tolerance are stronger for women than for men. It is not known whether sedentary behaviour in pregnancy influences pregnancy outcomes, but if those negative outcomes observed in general adult population also occur in pregnancy, this could have implications for adverse outcomes for mothers and offspring. We aimed to determine the proportion of time spent in sedentary behaviours among pregnant women, and the association of sedentary behaviour with pregnancy outcomes in mothers and offspring. METHODS: Two researchers independently performed the literature search using 5 different electronic bibliographic databases. Studies were included if sedentary behaviours were assessed during pregnancy. Two reviewers independently assessed the articles for quality and bias, and extracted the relevant information. RESULTS: We identified 26 studies meeting the inclusion criteria. Pregnant women spent more than 50% of their time in sedentary behaviours. Increased time in sedentary behaviour was significantly associated with higher levels of C Reactive Protein and LDL Cholesterol, and a larger newborn abdominal circumference. Sedentary behaviours were significantly higher among women who delivered macrosomic infants. Discrepancies were found in associations of sedentary behaviour with gestational weight gain, hypertensive disorders, and birth weight. No consistent associations were found between sedentary behaviour and other variables such as gestational diabetes. There was considerable variability in study design and methods of assessing sedentary behaviour. CONCLUSIONS: Our review highlights the significant time spent in sedentary behaviour during pregnancy, and that sedentary behaviour may impact on pregnancy outcomes for both mother and child. The considerable heterogeneity in the literature suggests future studies should use robust methodology for quantifying sedentary behaviour.