Medical conditions in autism spectrum disorders

Autism spectrum disorder (ASD) is a behaviourally defined syndrome where the etiology and pathophysiology is only partially understood. In a small proportion of children with the condition, a specific medical disorder is identified, but the causal significance in many instances is unclear. Currently, the medical conditions that are best established as probable causes of ASD include Fragile X syndrome, Tuberous Sclerosis and abnormalities of chromosome 15 involving the 15q11-13 region. Various other single gene mutations, genetic syndromes, chromosomal abnormalities and rare de novo copy number variants have been reported as being possibly implicated in etiology, as have several ante and post natal exposures and complications. However, in most instances the evidence base for an association with ASD is very limited and largely derives from case reports or findings from small, highly selected and uncontrolled case series. Not only therefore, is there uncertainty over whether the condition is associated, but the potential basis for the association is very poorly understood. In some cases the medical condition may be a consequence of autism or simply represent an associated feature deriving from an underlying shared etiology. Nevertheless, it is clear that in a growing proportion of individuals potentially causal medical conditions are being identified and clarification of their role in etio-pathogenesis is necessary. Indeed, investigations into the causal mechanisms underlying the association between conditions such as tuberous sclerosis, Fragile X and chromosome 15 abnormalities are beginning to cast light on the molecular and neurobiological pathways involved in the pathophysiology of ASD. It is evident therefore, that much can be learnt from the study of probably causal medical disorders as they represent simpler and more tractable model systems in which to investigate causal mechanisms. Recent advances in genetics, molecular and systems biology and neuroscience now mean that there are unparalleled opportunities to test causal hypotheses and gain fundamental insights into the nature of autism and its development

Long-term physical and psychological effects of the Vajont disaster

Background: Few studies to date investigated the long-term consequences of disasters on physical health. Objective : The aim of the present report was to study the consequence on physical health of exposure to the Vajont disaster after 40 years. We also explored the effects of severity of trauma, posttraumatic stress disorder (PTSD), and major depression disorder on physical health and health-related quality of life. Method: Sixty survivors of the Vajont disaster and 48 control subjects of similar gender, education, and age participated in the study. Physician-reported and subjective measures of physical health have been employed. Results: Survivors reported a greater number of physical complaints than controls (p<0.001), and some type of diseases showed a significant relationship with PTSD or PTSD symptoms. Quality of life differed between the two groups as regards the perception of physical health. The number of intrusive PTSD symptoms showed a significant negative effect on the quality of life of survivors. Conclusions: Our study shows that large-scale disasters such as the Vajont one may have deleterious effects on both psychological and physical health