“…Fragile X syndrome (FXS) is a neurodevelopmental disorder, characterized by intellectual disability and sensory deficits, caused by epigenetic silencing of the FMR1 gene and subsequent loss of its protein product, fragile X mental retardation protein (FMRP). …”
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“…One patient developed autism, and one patient showed mild developmental delay/intellectual disability. Conclusion: Our data suggested that patients with whole gene deletions could have more severe manifestations in PRRT2-associated disorders. …”
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“…Adjusted logistic models controlling for gender, intellectual disability status, costly chronic condition, rural status, county median income, and geographic region of residence revealed that Black beneficiaries were significantly less likely than white beneficiaries to be dual-eligible across all ages. …”
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“…MBD5-associated neurodevelopmental disorder (MAND) is an autism spectrum disorder (ASD) characterized by intellectual disability, motor delay, speech impairment and behavioral problems; however, the biological role of methyl-CpG-binding domain 5, MBD5, in neurodevelopment and ASD remains largely undefined. …”
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“…Clinical psychological assessments reported GD, ASD with average intellectual abilities and co-occurring symptoms of depression and anxiety. …”
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“…The present study aimed at bolstering these findings in typically developing (TD) children, and at dissecting particularities in SO-spindle coupling underlying signs of enhanced gist memory formation during sleep found in a foregoing study in children with autism spectrum disorder (ASD) without intellectual impairment. Sleep data from 19 boys with ASD and 20 TD boys (9–12 years) were analyzed. …”
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“…N-glycanase 1 (NGLY1) deficiency is a rare inherited disorder characterized by developmental delay, hypolacrima or alacrima, seizure, intellectual disability, motor deficits, and other neurological symptoms. …”
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“…Fetal alcohol spectrum disorders (FASD) continue to be the leading preventable cause of intellectual disability in the U.S., Europe, and in endemic areas, such as the Western Cape region of South Africa. …”
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“…BACKGROUND: Responsibility of individuals in adapting to life events depends on the intertwined cooperation of intellectual and emotional capacities, and a person's success in life depends on his emotional responses. …”
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“…Here, we tested the efficacy of SAK3 (ethyl 8′-methyl-2′, 4-dioxo-2-(piperidin-1-yl)-2′H-spiro [cyclopentane-1, 3′-imidazo [1, 2-a] pyridine]-2-ene-3-carboxylate), a T-type calcium channel enhancer, in an animal model of TAF1 intellectual disability (ID) syndrome. At post-natal day 3, rat pups were subjected to intracerebroventricular (ICV) injection of either gRNA-control or gRNA-TAF1 CRISPR/Cas9 viruses. …”
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“…MRIs of neuronopathic patients showed abnormal atrophy sumscores before CAS dropped below the threshold for intellectual disability (<70). White‐matter abnormalities (WMA) and brain atrophy progressed. …”
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“…METHODS: Children aged 7–16 years with physician-confirmed active epilepsy (i.e., having had an epileptic seizure in the past year and or currently taking antiepileptic drugs (AEDs), and not known to have an intellectual disability, were invited to participate. …”
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“…Methods: Post-9/11 Veterans with combat-related subconcussive blast exposure (n = 33), combat-related blast mTBI (n = 26), and controls (n = 33) without combat-related blast exposure, completed neuropsychological assessments of intellectual and executive functioning, processing speed, and working memory via NIH toolbox, assessment of clinical psychopathology, a retrospective account of blast exposures and non-blast-related head injuries, and self-reported current medication. …”
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“…RESULTS: The majority of patients in our studied family had severe developmental impairments, early-onset seizures, brain malformations such as cortical atrophy and microcephaly, developmental delays and intellectual disabilities. The molecular investigations revealed a novel homozygous variant c.1411G>A (p.Gly471Arg) in the GRM7 gene which was segregating with the disease in the family. …”
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“…Family 4 with the p.R103H and c.601A > T (p.K201*) truncating mutation had further combined neurological signs with cerebellar ataxia, seizures, and intellectual disability. CONCLUSION: RTN4IP1 recessive optic atrophy is systematically associated to a rod–cone dystrophy, which suggests that both the retinal ganglion cells and the rods are affected as a result of a deficit in the mitochondrial respiratory chain. …”
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“…BACKGROUND: Lecture is a common teaching method, which is not considered efficient for the development of critical and intellectual acquisition in the students of clinical courses. …”
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“…Rubinstein–Taybi syndrome (RSTS) is a human genetic disorder characterized by distinctive craniofacial features, broad thumbs and halluces, and intellectual disability. Mutations in the CREB binding protein (CREBBP) and E1A binding protein p300 (EP300) are the known causes of RSTS disease. …”
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“…Results: Stepwise multiple logistic regression analysis revealed that the father's character, impulsive–hyperactive index as measured by the CPRS-48, and intellectual–cultural index as measured by the FES-CV independently predicted clinical outcomes in adults, with an AUC of 0.770 (p < 0.001, 95% CI = 0.678–0.863). …”
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“…In these analyses, type of family (regular; intellectual disability; concerns regarding child abuse or neglect) and gender of caregiver were included as moderators. …”
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“…The present study evaluated the genotype-phenotype associations of CGG repeat number and IQ, college graduation, age at menopause, number of biological children, having a child with intellectual or developmental disabilities, and the likelihood of experiencing an episode of depression during adulthood. …”
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