Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex.

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder that results from mutations within either the TSC1 gene or the TSC2 gene. Diagnosis is based on well-established clinical criteria or genetic criteria. We describe an 18-month-old boy who presented with seizures and a single hypopigmented macule.

Facial Expression in Response to Smell and Taste Stimuli in Small and Appropriate for Gestational Age Newborns.

Small for gestational age newborns can later suffer from eating difficulties and slow growth. Nutritional preferences can be influenced by changes in sensory perception of smell and taste. To determine whether these could be detected at birth, the authors examined the different recognition pattern of smell and taste in small for gestational age newborns compared to appropriate for gestational age controls, as expressed by gusto-facial and naso-facial reflexes.

Neonatal neuropsychology: emerging relations of neonatal sensory-motor responses to white matter integrity.

The neonatal period is considered to be essential for neurodevelopment and wellbeing throughout the life span, yet little is known about brain-behavior relationships in the neonatal period. The aim of this study was to evaluate the association between neonatal sensory-motor regulation and white-matter (WM) integrity of major fiber tracts in the neonatal period. We hypothesized that WM integrity of sensory-motor systems would predict neurobehavioral maturation during the first month of life.

Diffuse excessive high signal intensity in low-risk preterm infants at term-equivalent age does not predict outcome at 1 year: a prospective study.

Introduction: The outcome of premature infants with only diffuse excessive high signal intensity (DEHSI) is not clear. We explored the relationship between DEHSI, white matter (WM) diffusion characteristics, perinatal characteristics, and neurobehavioral outcome at 1 year in a homogenous group of preterm infants without major brain abnormalities.

Methods: Fifty-eight preterm infants, gestational age 29 ± 2.

Normal polysomnographic respiratory values in children and adolescents.

Study Objectives: Polysomnography is important in the evaluation of children and adolescents with sleep-disordered breathing. Adult criteria for obstructive sleep apnea have been shown to be inapplicable to children. Nevertheless, very little data are available regarding normal respiratory parameters during sleep in healthy children and adolescents.