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  1. 11761
    “…MSS-patients typically present with congenital cataracts, intellectual disability, cerebellar ataxia and progressive vacuolar myopathy. …”
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    Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome
  2. 11762
    “…Mutations have recently been identified to cause a breadth of neurodevelopmental disorders including autism, intellectual disability, and epilepsy. The purpose of this work is to define the phenotypic spectrum of SYNGAP1 gene mutations and identify potential biomarkers of clinical severity and developmental progression. …”
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    Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression
  3. 11763
    “…Estimates were less precise for intellectual disabilities (OR, 1.83; 95% CI, 0.90-3.70; I(2) = 88.2%), obsessive-compulsive disorder (OR, 1.49; 95% CI, 0.87-2.56; I(2) = 67.3%), tic disorders (OR, 1.31; 95% CI, 0.98-1.76; I(2) = 75.6%), and eating disorders (OR, 1.18; 95% CI, 0.96-1.47; I(2) = 92.7%). …”
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    Association of Cesarean Delivery With Risk of Neurodevelopmental and Psychiatric Disorders in the Offspring: A Systematic Review and Meta-analysis
  4. 11764
    “…We ascertained two unrelated children (both female) presenting with spastic tetraparesis, severe generalized dystonia and intellectual impairment, sharing a unique brain malformation characterized by agenesis of putamina and globi pallidi, dysgenesis of the caudate nuclei, olfactory bulbs hypoplasia, and anomaly of the diencephalic-mesencephalic junction with abnormal corticospinal tract course. …”
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    Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2
  5. 11765
    por Guo, Hui, Bettella, Elisa, Marcogliese, Paul C., Zhao, Rongjuan, Andrews, Jonathan C., Nowakowski, Tomasz J., Gillentine, Madelyn A., Hoekzema, Kendra, Wang, Tianyun, Wu, Huidan, Jangam, Sharayu, Liu, Cenying, Ni, Hailun, Willemsen, Marjolein H., van Bon, Bregje W., Rinne, Tuula, Stevens, Servi J. C., Kleefstra, Tjitske, Brunner, Han G., Yntema, Helger G., Long, Min, Zhao, Wenjing, Hu, Zhengmao, Colson, Cindy, Richard, Nicolas, Schwartz, Charles E., Romano, Corrado, Castiglia, Lucia, Bottitta, Maria, Dhar, Shweta U., Erwin, Deanna J., Emrick, Lisa, Keren, Boris, Afenjar, Alexandra, Zhu, Baosheng, Bai, Bing, Stankiewicz, Pawel, Herman, Kristin, Mercimek-Andrews, Saadet, Juusola, Jane, Wilfert, Amy B., Abou Jamra, Rami, Büttner, Benjamin, Mefford, Heather C., Muir, Alison M., Scheffer, Ingrid E., Regan, Brigid M., Malone, Stephen, Gecz, Jozef, Cobben, Jan, Weiss, Marjan M., Waisfisz, Quinten, Bijlsma, Emilia K., Hoffer, Mariëtte J. V., Ruivenkamp, Claudia A. L., Sartori, Stefano, Xia, Fan, Rosenfeld, Jill A., Bernier, Raphael A., Wangler, Michael F., Yamamoto, Shinya, Xia, Kun, Stegmann, Alexander P. A., Bellen, Hugo J., Murgia, Alessandra, Eichler, Evan E.
    Publicado 2019
    “…Pediatric patients with disruptive mutations present with autism, intellectual disability, and delayed language and motor development. …”
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    Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
  6. 11766
    “…BACKGROUND: Fetal alcohol spectrum disorder (FASD) is one of the most common causes of preventable intellectual disability, and the key associated deficits are in executive function (EF). …”
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    Evaluation of a Custom-Developed Computer Game to Improve Executive Functioning in 4- to 6-Year-Old Children Exposed to Alcohol in Utero: Protocol for a Feasibility Randomized Controlled Trial
  7. 11767
    “…About 28% (341/1217) had at least one PND, including epilepsy (n = 105), developmental delay or intellectual disability (n = 234), neurogenetic or metabolic disorders (n = 77), neuromuscular disorders (n = 22) and others (n = 253). …”
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    2333. Influenza-Related Neurologic Complications in Hospitalized Children with Underlying Neurologic Disorders
  8. 11768
    “…Immunomodulatory function of mesenchymal stem cells (MSCs) has been shown in multiple preclinical studies; however, it has not been successfully translated to a routine clinical practice due to logistical, economical, regulatory, and intellectual property obstacles. It has been recently demonstrated that therapeutic effect of intravenously administered MSCs can be recapitulated by extracellular vesicles (EVs) derived from them. …”
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    Human bone marrow mesenchymal stem cell-derived extracellular vesicles attenuate neuroinflammation evoked by focal brain injury in rats
  9. 11769
    “…BACKGROUND: Autism spectrum disorders (ASD) and intellectual disabilities (ID) are heterogeneous and complex developmental diseases with significant genetic backgrounds and overlaps of genetic susceptibility loci. …”
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    Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients
  10. 11770
    “…The main referrals for chromosomal microarrays (CMA) were developmental delay (DD), intellectual disability (ID), facial dysmorphism and autism spectrum disorder (ASD). …”
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    Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil
  11. 11771
    “…Rare TCF4 coding variants are found in individuals with Pitt-Hopkins syndrome—an intellectual disability and autism spectrum disorder. …”
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    Structural basis for preferential binding of human TCF4 to DNA containing 5-carboxylcytosine
  12. 11772
    “…Convergent and divergent validity was strong as indexed by the pattern of correlations with relevant SRS-2 and Child Behavior Checklist domains and with verbal and non-verbal intellectual functioning scores in Sample 1 and with the Need to Belong Scale and Child Social Preference Scale scores in Sample 2. …”
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    Development of the Stanford Social Dimensions Scale: initial validation in autism spectrum disorder and in neurotypicals
  13. 11773
    “…These differences reflected the community’s reasons for conducting the research and intellectual property considerations. In both cases, observed benefits included building trust and strengthening working relationships for ongoing collaboration, fostering enthusiasm for linking traditional and scientific knowledge, promoting cross-cultural learning about scientific methods and traditional medicine, maintaining the relevance of traditional knowledge in the modern world, and initiating community discussions around their bush medicine product development. …”
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    Building partnerships for linking biomedical science with traditional knowledge of customary medicines: a case study with two Australian Indigenous communities
  14. 11774
    “…Long-term survivors may experience cerebral palsy, delay in growth, vision, hearing and intellectual deficiency, epilepsy, difficulties with communication and behavior. …”
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    Risk Factors of Birth Asphyxia Among Neonates Born in Public Hospitals of Tigray, Northern Ethiopia
  15. 11775
    “…BACKGROUND: Autistic individuals without intellectual disability are at heightened risk of self-injury, and appear to engage in it for similar reasons as non-autistic people. …”
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    Links between self-injury and suicidality in autism
  16. 11776
    “…Humans with homozygous inactivating mutations in the MFSD2a gene present severe microcephaly and intellectual impairments. Herein, we intended to identify early blood biomarkers that may be of use during pregnancy to monitor the offspring development and the adequate nutritional interventions, such as nutritional supplementation, that may be selected to improve it. …”
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    Child Head Circumference and Placental MFSD2a Expression Are Associated to the Level of MFSD2a in Maternal Blood During Pregnancy
  17. 11777
    “…Children infected with this roundworm suffer from malnutrition, growth stunting as well as cognitive and intellectual deficits. An effective vaccine is urgently needed to complement anthelmintic deworming as a better approach to control helminth infections. …”
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    Protective immunity elicited by the nematode-conserved As37 recombinant protein against Ascaris suum infection
  18. 11778
    “…With respect to mental health, studies that assessed all the aspects of mental health in both healthy participants and subjects with physical health problems were included, but those conducted in groups of patients with intellectual disabilities, dementia, and eating disorders were excluded. …”
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    Fruit and Vegetable Intake and Mental Health in Adults: A Systematic Review
  19. 11779
    por Ma, Hui-Ing, Hsieh, Chu-En
    Publicado 2020
    “…BACKGROUND: People may be stigmatized if they have mental illness, emotional and behavioral disorders (EBD), or physical or intellectual disabilities. Being stigmatized adversely affects one’s psychological well-being and quality of life. …”
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    Questionnaires on stigmatizing attitudes among healthcare students in Taiwan: development and validation
  20. 11780
    “…Structural brain MRI (3 T) was also performed in 16 out of 17 patients, with high resolution 3D T1-weighted, 3D FLAIR and spectroscopy sequences. RESULTS: Intellectual efficiency was normal in patients with cystinosis (mean Total IQ = 93). …”
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    Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis
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