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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.
Some clinicians believed that autism was a variant of or precursor to schizophrenia.
Associated Biomedical Conditions and Genetic Factors B. Differential diagnosis was a conceptual problem for early autism research.
The final selection underscores technological leaps that have given researchers unprecedented access to the genome — revealing how common genetic variants may contribute to autism, how the condition intersects with others and the potential of various therapies for treating it.
Here, in reverse chronological order, are the papers that made the cut. Control of gene expression alters impact of autism mutations and Study links subset of genetic variants to autism, intellectual disability Common genetic variants may contribute to autism risk by modifying the effects of rare, harmful mutations, according to these two studies.
Children with the most severe autism traits are more than three times as likely to be obese as those with milder traits.
Research adds heft to link between autism and obesity Nearly half of American adolescents with autism are overweight or obese, this paper showed, confirming a pattern seen in several other studies.
The specific behavioral manifestations of these traits differ by degree of accompanying retardation and age.
Autistic Disorder is marked by the presence of symptomatology in three areas: (1) qualitative impairment in social interaction, as manifested by such behaviors as abnormal or reduced eye contact with others, failure to develop peer relationships, lack of spontaneous sharing of interests with others (e.g., showing or pointing out objects of interest to the caregiver), (2) qualitative impairment in communication, as manifested by delayed or deviant language without attempts to compensate through nonverbal communication, poor conversational skills if speech is present, and repetitive and stereotyped language and play, and (3) a restricted and repetitive repertoire of behaviors and interests, including preoccupations and rituals, or severe resistance to environmental changes.
Preoccupations, Perseverations, and Resistance to Change B. Similarly, a high-functioning, older autistic individual may have perseverative interests in such topics as constellations, train schedules, or dinosaurs, and attempt to engage others in conversations on these subjects, while a lower functioning or younger autistic individual might engage in repetitive motor rituals.
A high-functioning, older autistic individual, for example, may attempt to be social, but violate implicit rules of social behavior and be insensitive to unspoken social signals, while a low-functioning or much younger autistic individual may react to other people as if they were little different from inanimate objects.