eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | c syndrome |
| Comorbidity | C0004352|autism |
| Sentences | 11 |
| PubMedID- 22615702 | Although a full review of neuroimaging studies that have focused on genetic syndromes associated with autism is beyond the scope of this article, we present a number of select examples from this literature. |
| PubMedID- 23226953 | While the existence of many genetic syndromes associated with autism first led to considering the existence of genetic heterogeneity mirroring the clinical variability, genetic studies in idiopathic autism confirmed the existence of different defects in common pathways. |
| PubMedID- 21687660 | Exclusion criteria included a clinical diagnosis of co-morbid psychiatric or medical condition such as epilepsy, history of head injury, or clinically detectible genetic syndrome associated with autism such as fragile x syndrome. |
| PubMedID- 26269783 | Diagnosing autism in individuals with known genetic syndromes: clinical considerations and implications for intervention. |
| PubMedID- 22048961 | Association of gtf2i in the williams-beuren syndrome critical region with autism spectrum disorders. |
| PubMedID- 22848344 | Exclusionary criteria included the presence of major medical or neurologic illness, including epilepsy, and presence of a known genetic syndrome associated with autism such as fragile x. control subjects were recruited from local community schools. |
| PubMedID- 23769996 | We shall hereby review current knowledge on the genetic basis of asd, spanning genetic/genomic syndromes associated with autism, monogenic forms due to copy number variants (cnvs) or rare point mutations, mitochondrial forms, and polygenic autisms. |
| PubMedID- 24952201 | Other neurodevelopmental disorders have been investigated using this technique, including genetic syndromes associated with autism such as fragile x syndrome and smith-lemli-opitz syndrome. |
| PubMedID- 23972161 | It might also be of interest that epigenetic mechanisms involving gene x environment interactions and effects on the serotoninergic system [62] have been found in several genetic syndromes associated with autism spectrum disorders [63]. |
| PubMedID- 24737292 | Several genetic syndromes share features with autism, such as rett, fragile x, prader-willi, and angelman, and demonstrate dysregulation of epigenetic marks or epigenetic mechanisms [5] (epigenetic refers to the heritable regulation of various genetic functions [7]). |
| PubMedID- 20485498 | Participants with autism had no diagnoses of genetic syndromes or definable postnatal aetiologies for their developmental difficulties (e.g., head injury, tumour). |
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