New approach predicts impact of mild mutations in autism The new method outlined in this paper allows researchers to assess the biological impact of thousands of subtle genetic mutations, each of which alters just one of a protein’s amino acids.
Tags: Charlotte Observer Law Day EssayTimothy Bowers DissertationBrave New World Caste System EssayEssays On Personal Goals24 7 Essay HelpThesis About Language Planning400 Words EssayScore Range For Sat EssayAutistic-like disorders virtually always begin before age 3, while schizophrenic-like disorders virtually never begin before age 7.
Only in the 1970s came an awareness that disorders beginning in infancy must be regarded as separate in kind from those with onset in later childhood, adolescence, or adulthood.
Spontaneous mutations in certain noncoding regions of the genome are linked to autism, according to this analysis of the whole-genome sequences of 1,902 families. The first suggests that common variants modulate the expression of genes that are also affected by rare mutations.
A study from the same group in April showed how analyses in fewer participants can lead to spurious results. The second reveals that common variants contribute to about 8 percent of the risk for developmental conditions thought to arise from rare mutations.
This study also suggests that stimulating this region with an electrical current may ease the effects in mice.
Study of cerebellum’s role in autism homes in on ‘social’ region A region of the cerebellum called the RCrus I may underpin the social problems seen in autistic people and in a mouse model of the condition. Although Kanner originally viewed the autistic aloneness as probably representing a constitutional defect, the two decades following his original work were marked by an unfortunate shift toward a psychodynamic/environmental view of the causation of autism. Kanner identified symptoms in three main groups: an autistic aloneness, a failure to use language communicatively, and an obsessive insistence on sameness in the environment; these are still the three areas of symptomatology used in current diagnostic systems.This year’s list of top papers highlights new dimensions in our understanding of autism genetics and hints at novel treatments. This year, as every year, we asked autism researchers to weigh in on the most ‘notable’ papers of the past 12 months — ones that shifted their perspective on the condition or how to treat it. Currently, researchers stressing both cognitive and social/affective deficits as primary are in agreement that the fundamental problem is a neurological, and not an environmental, one. Beginning in the early to mid-1980s, research attention also began to focus seriously on the social and affective aspects of autism, both to clarify the range of heterogeneity in autistic children’s functioning, and to posit new core deficits in these areas.It is characterized by deficits in social relatedness, deficits in language and communication, and stereotyped and restricted patterns of behavior, and is frequently but not always accompanied by mental retardation. Historical Development of the Concept of Autism II. Asperger’s Disorder is often considered a mild form of Autistic Disorder, and there is still controversy about how distinct it is from autism; diagnostically, it can be distinguished from autism by normal development of language. The other specific syndromes classified as Pervasive Developmental Disorders include Rett’s Disorder, Asperger’s Disorder, and Childhood Disintegrative Disorder.Pervasive developmental disorders (PDD) is the current term for what is probably a group of related neurodevelopmental disorders characterized by similar behavioral profiles. Rett’s Disorder has marked behavioral commonalities with Autistic Disorder, including poor social engagement and mental retardation, but differs from Autistic Disorder in several ways: in Rett’s Disorder, the retardation is more invariant and more typically severe, the disorder seems to present only in girls, it is marked by a characteristic pattern of head growth deceleration and loss of purposeful hand movements, sometimes accompanied by hand wringing behavior, following a period of normal development.Autism or autistic disorder is the most widely studied and best described of these disorders. Many girls with Rett syndrome also have epilepsy and other neurologic abnormalities.
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