Background: Cognitive impairment and fine motor deficits are frequent manifestations in patients with neurofibromatosis type 1 (NF1). More than 50% of patients with NF1 show focal areas of high signal intensity (T2H) on T2-weighted MRI of the brain. It has been hypothesized that T2H may be associated with the cognitive and motor problems. Methods: The authors investigated 100 patients with NF1 and 100 healthy control subjects matched for age, sex, and socioeconomic status for their IQ (Wechsler Intelligence Scale for Children-Revised [WISC-R] and Wechsler Adult Intelligence Scale-Revised [WAIS-R]), fine motor abilities (Motorische Leistungs-Serie [motor performance task]), and T2H (MRI). Results: As a group, the 100 patients performed within normal limits of WISC-R and WAIS-R scores. However, the scores for the NF1 patients with normal MRI were at the mean, whereas those for the patients who had T2H (n = 58) were significantly depressed. On measures of fine motor skills, patients with T2H performed poorer than patients with normal MRI. Conclusion: Hyperintensities on T2-weighted MRI represent a biological marker for impaired cognitive and fine motor performance in patients with NF1.

Inconsistent data on the association between prenatal alcohol exposure and a range of pregnancy outcomes, such as preterm birth (PTB) and small for gestational age (SGA) raise new questions. This study aimed to assess whether the association between low-moderate prenatal alcohol exposure and PTB and SGA differs according to maternal education, maternal mental distress or maternal smoking.

MCTs are increasingly being used to promote ketogenesis by patients on ketogenic diet therapy, but also by people with other conditions and by the general public for the perceived potential benefits. However, consumption of carbohydrates with MCTs and untoward gastrointestinal side effects, especially at higher doses, could decrease the sustainability of the ketogenic response. This single-center study investigated the impact of consuming carbohydrate as glucose with MCT oil compared to MCT alone on the BHB response. The effects of MCT oil versus MCT oil plus glucose on blood glucose, insulin response, levels of C8, C10, BHB, and cognitive function were determined, and side effects were monitored. A significant plasma BHB increase with a peak at 60 min was observed in 19 healthy participants (24.4 ± 3.9 years) after consuming MCT oil alone, and a more delayed but slightly higher peak was observed after consuming MCT oil plus glucose. A significant increase in blood glucose and insulin levels occurred only after MCT oil plus glucose intake. The overall mean plasma levels of C8 and C10 were higher with the intake of MCT oil alone. MCT oil plus glucose consumption showed improved scores for the arithmetic and vocabulary subtests.