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  1. 10781
    “…It also revealed three genes involved in synaptic plasticity, RIMS4, KALRN, and PLA2G4A, carrying de novo deleterious variants in individuals with autism without intellectual disability. In summary, our analysis provides a better understanding of the genetic architecture of autism in isolated populations by highlighting the role of both common and rare gene variants and pointing at new autism-risk genes. …”
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    Both rare and common genetic variants contribute to autism in the Faroe Islands
  2. 10782
    por Lynn, Lawrence A.
    Publicado 2019
    “…The integration of artificial intelligence (AI) into acute care brings a new source of intellectual thought to the bedside. This offers great potential for synergy between AI systems and the human intellect already delivering care. …”
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    Artificial intelligence systems for complex decision-making in acute care medicine: a review
  3. 10783
    “…Low Apgar score has been associated with higher risk for several neurological and psychiatric disorders, including cerebral palsy and intellectual disability. Studies of the association between Apgar score and autism spectrum disorder (ASD) have been inconsistent. …”
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    Apgar score and risk of autism
  4. 10784
    “…For example, in physically disabled adults, higher education was related to higher odds of hemorrhoids (p < 0.001); however, there were no significant disparities in hemorrhoids across the education levels among adults with intellectual disabilities. DISCUSSION: Compared with people without disabilities, adults with disabilities in Shanghai have relatively poor health. …”
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    Association between education and health outcomes among adults with disabilities: evidence from Shanghai, China
  5. 10785
    “…Affected individuals show delayed development, intellectual disability, ataxia, hyperpnea, sleep apnea, abnormal eye, and tongue movements as well as hypotonia. …”
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    The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1
  6. 10786
    “…Fragile X mental retardation protein is an mRNA-binding protein associated with phenotypic manifestations of fragile X syndrome, an X-linked disorder caused by mutation in the FMR1 gene that is the most common inherited cause of intellectual disability. Despite the well-studied genetic mechanism of the disease, the proteoforms of fragile X mental retardation protein have not been thoroughly characterized. …”
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    Expression and Characterization of Human Fragile X Mental Retardation Protein Isoforms and Interacting Proteins in Human Cells
  7. 10787
    “…Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by varying degrees of intellectual disability, severely delayed language development and specific facial features, and is caused by a deletion within chromosome 22q13.3. …”
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    Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment
  8. 10788
    “…BACKGROUND: Mutations of the SCN2A gene encoding a voltage-gated sodium channel alpha-II subunit Nav1.2 are associated with neurological disorders such as epilepsy, autism spectrum disorders, intellectual disability, and schizophrenia. However, causal relationships and pathogenic mechanisms underlying these neurological defects, especially social and psychiatric features, remain to be elucidated. …”
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    Scn2a haploinsufficient mice display a spectrum of phenotypes affecting anxiety, sociability, memory flexibility and ampakine CX516 rescues their hyperactivity
  9. 10789
    “…Questions explored the extent to which relational bonds between students and mentors were cultivated as well as the impact of this experience on the development of research skills, intellectual growth, academic and professional self-determination, and the attachment of meaning to their research experiences. …”
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    Cultivating Native American scientists: an application of an Indigenous model to an undergraduate research experience
  10. 10790
    “…BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is associated with high rates of neurodevelopmental disorder, however, the links between developmental coordination disorder (DCD), intellectual function and psychiatric disorder remain unexplored. …”
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    Developmental coordination disorder, psychopathology and IQ in 22q11.2 deletion syndrome
  11. 10791
    “…Neonatal hypoxic injury (NHI) is a devastating cause of disease that affects >60% of babies born with a very low birth weight, resulting in significant morbidity and mortality, including life-long neurological consequences such as seizures, cerebral palsy, and intellectual disability. Hypoxic injury results in increased neuronal death, which disrupts normal brain development. …”
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    Minocycline mitigates the effect of neonatal hypoxic insult on human brain organoids
  12. 10792
    “…Dysregulation of USP9X has been linked to cancers and X-linked intellectual disability. Here, we report the crystal structure of the USP9X catalytic domain at 2.5-Å resolution. …”
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    Crystal structure and activity-based labeling reveal the mechanisms for linkage-specific substrate recognition by deubiquitinase USP9X
  13. 10793
    “…Mutations in EIF2S3, encoding the eIF2γ subunit, are associated with severe intellectual disability and microcephaly, usually as part of MEHMO syndrome. …”
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    Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation
  14. 10794
    por Li, Wenfu, Wang, Xianfu, Li, Shibo
    Publicado 2018
    “…BACKGROUND: The clinical features of Down syndrome vary among individuals, with those most common being congenital heart disease, intellectual disability, developmental abnormity and dysmorphic features. …”
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    Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies
  15. 10795
    “…Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a severe X-linked neurodevelopmental encephalopathy caused by mutations in the CDKL5 gene and characterized by early-onset epilepsy and intellectual and motor impairments. No cure is currently available for CDD patients, as limited knowledge of the pathology has hindered the development of therapeutics. …”
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    Functional and Structural Impairments in the Perirhinal Cortex of a Mouse Model of CDKL5 Deficiency Disorder Are Rescued by a TrkB Agonist
  16. 10796
    “…Cognitive (artistic, intellectual, manual, religious, and club) and physical activity were assessed at baseline. …”
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    Cognitive and physical activity and dementia: A 44-year longitudinal population study of women
  17. 10797
    “…GPI deficient patients are affected by chronic non-spherocytic hemolytic anemia of variable severity; in rare cases, intellectual disability or neuromuscular symptoms have also been reported. …”
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    Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases
  18. 10798
    “…RESULTS: Effect sizes for the experimental group (d = 1.05–2.51) were larger compared with controls (d = 0.11–0.86), with Elements training showing statistically greater improvements in motor function of the most affected hand (p = 0.008), and general intellectual status and executive function (p ≤ 0.001). …”
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    Elements virtual rehabilitation improves motor, cognitive, and functional outcomes in adult stroke: evidence from a randomized controlled pilot study
  19. 10799
    “…CONCLUSIONS: Personnel without appropriate education who work with people with psychiatric/intellectual disabilities can be educated in large numbers. …”
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    Teaching psychiatry to large groups in society
  20. 10800
    “…Down syndrome (DS), a genetic disorder caused by partial or complete triplication of chromosome 21, is the most common genetic cause of intellectual disability. DS mouse models and cell lines display defects in cellular adaptive stress responses including autophagy, unfolded protein response, and mitochondrial bioenergetics. …”
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    Hydroxyurea Improves Spatial Memory and Cognitive Plasticity in Mice and Has a Mild Effect on These Parameters in a Down Syndrome Mouse Model
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