Browsing by Subject "Rett Syndrome"
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Item Autism Spectrum Disorders (Pervasive Developmental Disorders) and vitamin D(2010-11-02) Miller, BarrieThe Autism Spectrum Disorders (ASD’s) are a group of neurodevelopmental disorders that result in abnormalities of socialization, communication and behavior. There has been an apparent increase in the prevalence of ASD’s in the last 20 years. While the exact etiologies of the ASD’s are not known, scientists believe that gene/environment interactions are involved in the development of ASD’s. Genes make some individuals more susceptible to environmental factors. One environmental factor that could be involved in the development of ASD’s is vitamin D deficiency during pregnancy and early childhood development. Vitamin D is an important neurosteroid involved in brain development. Animal studies have shown that gestational vitamin D deficiency results in offspring with anatomical abnormalities similar to those found in autism. Developmental vitamin D deficiency has been found to dysregulate 36 proteins involved in mammalian brain development. Vitamin D supplementation during pregnancy and throughout childhood could possibly help prevent some cases of ASD.Item Rett Syndrome and HPA Axis Function: A Preliminary Investigation of Salivary Cortisol(2014-03) Lacoste, AmeanteRett syndrome (RTT) affects mostly females and results from a mutated gene (MECP2), which disrupts the production of a DNA binding protein called MeCP2 critical for neural development. Females with RTT have profound developmental disabilities including communicative and motor impairments and problems related to anxiety and arousal as well as difficulties with sleep, mood, and self-injurious behavior (SIB). It is plausible that perturbations to the neuroendocrine stress-response system (the hypothalamic-pituitary-adrenal [HPA] axis) may be associated with the reported behavioral disturbances in RTT. One approach to evaluating HPA axis integrity involves testing the diurnal pattern of salivary cortisol. In this study, following informed consent, saliva was collected during 2 days (at 4 time points: first wake, mid-morning, mid-afternoon, bedtime) from 22 females with RTT (M age = 13 yrs; 4-27). A questionnaire evaluating participant's sleep, mood, and SIB was completed by caregivers. Eighty percent of the sample had abnormal diurnal patterns and significant correlations were found between abnormal cortisol patterns and parent-reported concerns for SIB and mood. Results suggest that blunted cortisol production is related to HPA dysfunction and increased behavioral concerns.