The conditions are discussed in more detail in the RAAS inhibitor research buy following sections. Table II The genetic basis of conditions for which there is evidence that mutations give rise directly to intellectual disability. ATRX, alpha-thalassemia X-linked mental retardation syndrome; XLMR, X-linked mental retardation; IL-1, interleukin-1; IQ, intelligence … When we consider Inhibitors,research,lifescience,medical the pathogenesis of intellectual disability, it is important to bear in mind that the phenotype involves multiple domains of intellectual functioning,

often broadly divided into verbal and performance skills, but also encompassing capacities such as memory and attention, where performance is not traditionally seen as central to intellectual ability. Unfortunately, we do not know whether the domains that psychologists recognize correspond to the way genes operate, whether, for instance, Inhibitors,research,lifescience,medical verbal and performance skills can be separated at a genetic level. Information is lacking about genetic influences on the domains of both normal and abnormal intellectual functioning. Studies of the heritability of intelligence, a measure of the extent to which genes contribute to the variation in intellectual functioning in the population, have mostly been carried Inhibitors,research,lifescience,medical out on overall measures of cognitive function,

such as IQ, although more recent work on speech and language development is beginning to indicate that genetic effects that have more specific influences can be identified.15,16 Similarly,

there have been few detailed Inhibitors,research,lifescience,medical psychometric investigations of people with intellectual disability due to a specific genetic lesion, so we do not know whether cognitive functioning is abnormal over all domains or whether there are discrete abnormalities. In fact, as discussed later, there is some evidence in favor of the latter hypothesis. Genetic mapping Inhibitors,research,lifescience,medical techniques and molecular cloning have made it possible to investigate disorders where the relationship between intellectual disability and genetic defect L-NAME HCl might be immediate. These are conditions where there are no noticeable alterations in brain structures and the cause of cognitive impairment is difficult to find. In general, this distinction is reflected in the division of MR into syndromic and nonsyndromic conditions. In syndromic MR, the phenotype includes additional physical abnormalities (such as facial dysmorphism or minor abnormalities of the hands and feet), while in nonsyndromic MR the only abnormality is cognitive impairment. It might appear that genetic lesions are directly responsible for intellectual disability more commonly in nonsyndromic than in syndromic conditions, but it should be borne in mind that, without an understanding of the pathogenesis, this is only an assumption.