PedAM

Pediatric Disease Annotations & Medicines

Disease	intellectual disability
Phenotype	C0004352\|autism
Sentences	27
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- 23615299	Loss of function of kiaa2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
PubMedID- 21458570	autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying k+ channel kir4.1.
PubMedID- 26048982	Background: various genetic defects cause autism associated with intellectual disability and epilepsy.
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- 25297645	Icd-10 and alternative diagnostic criteria for childhood autism among children with intellectual disability.
PubMedID- 22696195	Today's diagnostic criteria applied to participants ascertained in the 1980s identified more cases of autism with intellectual disability.
PubMedID- 22956686	Thus, autism presenting with intellectual disability and epilepsy caused by bckdk mutations represents a potentially treatable syndrome.
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- 23604083	Main outcome measure: a diagnosis of autism spectrum disorder, with or without intellectual disability.
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- 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.
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- 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- 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- 26379493	Gating changes permitting enhanced ca2+ inward current through cav1.3 were not only identified as cause for excessive aldosterone secretion in adrenal adenomas (azizan et al., 2013) but also as cause for pasna, a severe human congenital disease (scholl et al., 2013) and as high risk de novo mutations for autism with intellectual disability (pinggera et al., 2015).
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- 26330451	Limited evidence suggests that certain antipsychotics might be effective in treating behavioural disturbance in adults intellectual disability comorbid with autism,49 but no evidence supports antipsychotic use in challenging behaviour outside this context.7 use of antipsychotics for challenging behaviour in people with intellectual disability is recommended only under specialist supervision and for short periods.24 antipsychotics may be used where the availability of other management strategies, such as psychosocial interventions and communication support, is limited.
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- 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- 23861807	Table s6 epilepsy diagnosis by intellectual disability among individuals with autism spectrum disorder, genetic collaborative samples.
PubMedID- 24594579	The prevalence of asd overall is about 1/100, but closer to 1/300 for autism with intellectual disability (id) [2].
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- 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- 24744698	We were interested in the mglur-dependent ltd because its involvement in synaptic pathophysiology has been confirm in two syndromic forms of autism with intellectual disability, tuberous sclerosis complex (tsc1+/-, tsc2+/-) and fragile x syndrome (fmr1-/-; bear et al., 2004; zoghbi and bear, 2012).
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).

Page: 1