PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features
نویسندگان
چکیده
منابع مشابه
Genetic and neurodevelopmental influences in autistic disorder.
OBJECTIVE In the past, autism was considered to be largely psychogenic. However, research in the last 2 decades indicates that autism is largely caused by genetic factors that lead to abnormal brain development. This article reviews research into the genetic and neurodevelopmental factors underlying autism. METHODS We review the findings from genetic and brain-imaging studies of autism over t...
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Catatonia is a cluster of motor features that appears in many recognized psychiatric illnesses. It is being increasingly reported in individuals with autism, a disorder characterized by impaired reciprocal social interactions, aberrant language development and restricted behavioral repertoire. However, relatively little is known about the presentation and treatment of catatonia in children with...
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Autistic disorder, an extremely disabling syndrome with onset in early childhood, is associated with multiple comorbid conditions. Although autistic disorder is heterogeneous in its manifestations, there is a subgroup of individuals with autistic disorder who display movements that appear to be unique for the disorders. Hand flapping and a variety of movements termed stereotypies may be pathogn...
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Most of the autistic disorder patients are also mentally retarded and many mentally retarded persons exhibit autistic symptoms. By using a standard instrument (Ritvo-Freeman Real Life Rating Scale) the autistic features of the mentally retarded children were studied. The study also examined the influence of age, sex and level of mental retardation on the occurrence of autistic symptoms. Childre...
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Hyperserotonemia is the most consistent serotonin-related finding in autism. The basis of this phenomenon, and its relationship to the central serotonergic dysfunction remains unclear. Platelet serotonin level (PSL) in 53 autistic adults and 45 healthy controls was measured. Mean PSL in autistic group (75.7 +/- 37.4 ng/microL) was significantly higher than the control sample (59.2 +/- 16.2 ng/m...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
سال: 2018
ISSN: 1552-4841
DOI: 10.1002/ajmg.b.32688