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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease intellectual disability
Comorbidity C0004352|autism
Sentences 27
PubMedID- 23226949 Kanner did also not initially recognize how frequently autism was associated with intellectual disability; in retrospect this is not surprising, given the importance of a fundamental social orientation for learning what is and isn't important in the nonsocial environment, and the frequent scattered iq profile observed in autism.
PubMedID- 26048982 Background: various genetic defects cause autism associated with intellectual disability and epilepsy.
PubMedID- 26111537 There is limited large-scale research into the lived experiences of female adults who have an autism spectrum disorder with no co-occurring intellectual disability.
PubMedID- 26059997 Method: observation of autism in people with sensory and intellectual disabilities was tested on 18 participants with moderate to profound intellectual disabilities, one or dual sensory impairment, with and without asd.
PubMedID- 23604083 All associations were higher in cases of autism without intellectual disability, there being no evidence of an increased risk of autism with intellectual disability.
PubMedID- 22937256 Edelson [7] conducted a systematic review of articles published between 1937 and 2003 that reported the prevalence of intellectual disability in children with autism at 75%.
PubMedID- 24289166 With each rcpm or vabs measure, the risk of epilepsy in multiplex autism was significantly associated with intellectual disability, but not with gender.
PubMedID- 25297645 The first alternative criteria can significantly improve the case identifying ability and diagnostic accuracy altering there by the epidemiological data on childhood autism among children with intellectual disability.
PubMedID- 25237489 Individuals with autism, with varying degrees of intellectual disability, are another diagnostic group also at risk of not being able to follow social rules of due reverence and regard for what the community holds sacrosanct.
PubMedID- 23615299 Loss of function of kiaa2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
PubMedID- 24592210 P110β mrna associates with and is translationally regulated by the fragile x mental retardation protein (fmrp), which is deficient in fragile x syndrome (fxs), the most common form of inherited intellectual disability and monogenic cause of autism (gross et al., 2010; sharma et al., 2010; darnell et al., 2011).
PubMedID- 21909353 Fxs is characterized by a broad profile of impairment including intellectual disabilities and comorbidity with autism (see review [7]).
PubMedID- 24594579 The prevalence of asd overall is about 1/100, but closer to 1/300 for autism with intellectual disability (id) [2].
PubMedID- 25986746 Fragile x syndrome (fxs), an inherited intellectual disability often associated with autism, is caused by the loss of expression of the fragile x mental retardation protein.
PubMedID- 24744698 These observations support the current hypothesis that the intellectual disabilities associated with autism are caused by unbalanced synaptic activity.
PubMedID- 21458570 autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying k+ channel kir4.1.
PubMedID- 22956686 Thus, autism presenting with intellectual disability and epilepsy caused by bckdk mutations represents a potentially treatable syndrome.
PubMedID- 21695147 Although these were small clinic samples, this male bias was also seen in the early epidemiological studies of classic autism with concurrent intellectual disability, where the male∶female ratio was 3–4∶1 [7], [10], [11], [12], [13].
PubMedID- 22720171 In fragile x syndrome, an inherited autism-spectrum disorder associated with intellectual disability that affects 1 : 4000 males and half as many females, mutations in the fmr1 gene cause a functional absence of fragile x mental retardation protein (fmrp), a protein that reduces translation by recruiting 4e-bp proteins to the 5′ end of mrnas [64, 65].
PubMedID- 20159109 Mutations segregate with the disease in the families, and in some family members intellectual disabilities were associated with autism spectrum disorder, epileptic seizures, and macrocephaly.
PubMedID- 24715257 There is limited large-scale empirical research into the working lives of adults who have an autism spectrum disorder with no co-occurring intellectual disability.
PubMedID- 22696195 Today's diagnostic criteria applied to participants ascertained in the 1980s identified more cases of autism with intellectual disability.
PubMedID- 25784538 Mutations in the rab39b gene cause intellectual disability comorbid with autism spectrum disorder and epilepsy, but the impact of rab39b loss of function on synaptic activity is largely unexplained.
PubMedID- 25444163 autism with intellectual disability related to dynamics of head circumference growth during early infancy.
PubMedID- 25900322 Conclusion: the finding lends some further support for congenital cmv being one of the many aetiologies underlying autism spectrum disorder with intellectual disability.
PubMedID- 25790165 Previous research indicates that the gabaaergic system is involved in the pathophysiology of the fragile x syndrome, a frequent form of inherited intellectual disability and associated with autism spectrum disorder.
PubMedID- 23785156 In this study, we demonstrate that inactivation of a single copy of syngap1, which causes a surprisingly common form of sporadic, non-syndromic intellectual disability with autism in humans, induced widespread early functional maturation of excitatory connections in the mouse neocortex.

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