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  1. 10421
    “…While the urgency of response resulted in a fast and massive adoption of standard, public on-line platforms, generally owned by big players in the digital services market, this does not sufficiently take into account privacy-related and security-related issues and potential legal problems about the legitimate exploitation of the intellectual rights about contents. However, the experience brought to attention a vast set of issues, which have been addressed by implementing these services by means of private platforms. …”
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    Performance evaluation for the design of a hybrid cloud based distance synchronous and asynchronous learning architecture
  2. 10422
    “…BACKGROUND: Lysine(K)-specific demethylase 5C (KDM5C) dysfunction causes X-linked syndromic intellectual developmental disorder Claes-Jensen type in male patients. …”
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    A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype
  3. 10423
    “…Adverse traumatic experiences and internalizing disorders were significantly associated with an increased risk of suicidality. Intellectual disability was less represented from the PLG to SLG, and similarly, the rate of ADHD was lower in the SLG. …”
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    How COVID-19 Phases Have Impacted Psychiatric Risk: A Retrospective Study in an Emergency Care Unit for Adolescents
  4. 10424
    “…We report here the case of a 32-year-old woman with a long-standing history of non-treated hypocalcemia, in the context of an undiagnosed PHPT-1a. She had an intellectual disability, showed clinical features of the Albright hereditary osteodystrophy (AHO) and presented signs of multiple hormone resistances. …”
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    Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
  5. 10425
    “…Diagnosis was determined by a psychiatrist using the Cambridge Examination for Mental Disorders of Older People with Down’s Syndrome and Others with Intellectual Disabilities (CAMDEX-DS). NPS and caregiver distress were evaluated by an independent psychiatrist using the NPI, and participants underwent a neuropsychological assessment with Cambridge Cognitive Examination (CAMCOG-DS). …”
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    Neuropsychiatric Symptoms of Alzheimer’s Disease in Down Syndrome and Its Impact on Caregiver Distress
  6. 10426
    “…A “No/Single Trauma” group (31.4%), with more male patients, intellectual disabilities, and nonhyperkinetic seizures, and a low level of psychopathology; 2. …”
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    Heterogeneity of patients with functional/dissociative seizures: Three multidimensional profiles
  7. 10427
    “…This variant has been recently reported in one subject in the literature who displayed facial features typical of NS and also presented with significant speech delays, moderate intellectual disabilities, epilepsy, bilateral sensorineural deafness and renal dysplasia. …”
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    Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair
  8. 10428
    “…Efficacy of assistive technology continues to evolve as a means of helping individuals with cognitive and intellectual disabilities, asserting the importance of its research. …”
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    A Feasibility Study of Individuals Living at Home with Alzheimer’s Disease and Related Dementias: Utilization of Visual Mapping Assistive Technology to Enhance Quality of Life and Reduce Caregiver Burden
  9. 10429
    “…These included political leadership to initiate and maintain progress, intellectual leadership to support those engaged in local implementation of national policies and drive change, and a coherent vision from leaders at different levels of the system. …”
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    Exploring the Role of Leadership in Facilitating Change to Improve Cancer Survival: An Analysis of Experiences in Seven High Income Countries in the International Cancer Benchmarking Partnership (ICBP)
  10. 10430
    por Ataman, Lauren M., Rodrigues, Jhenifer K., Marinho, Ricardo M., Caetano, João P.J., Chehin, Maurício B., Alves da Motta, Eduardo L., Serafini, Paulo, Suzuki, Nao, Furui, Tatsuro, Takae, Seido, Sugishita, Yodo, Morishige, Ken-Ichiro, Almeida-Santos, Teresa, Melo, Cláudia, Buzaglo, Karen, Irwin, Kate, Wallace, W. Hamish, Anderson, Richard A., Mitchell, Roderick T., Telfer, Evelyn E., Adiga, Satish K., Anazodo, Antoinette, Stern, Catharyn, Sullivan, Elizabeth, Jayasinghe, Yasmin, Orme, Lisa, Cohn, Richard, McLachlan, Rob, Deans, Rebecca, Agresta, Franca, Gerstl, Brigitte, Ledger, William L., Robker, Rebecca L., de Meneses e Silva, João M., Melo e Silva, Lígia H.F., Lunardi, Franciele O., Lee, Jung R., Suh, Chang S., De Vos, Michael, Van Moer, Ellen, Stoop, Dominic, Vloeberghs, Veerle, Smitz, Johan, Tournaye, Herman, Wildt, Ludwig, Winkler-Crepaz, Katharina, Andersen, Claus Y., Smith, Brigid M., Smith, Kristin, Woodruff, Teresa K.
    Publicado 2020
    “…Funded by the National Institutes of Health, the Oncofertility Consortium (OC) was formed to be a scientifically grounded, transparent, and altruistic resource, both intellectual and monetary, for building this new field of practice capable of addressing the unique needs of young patients with cancer. …”
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    Creating a Global Community of Practice for Oncofertility
  11. 10431
    “…Furthermore, the girl showed microcephaly, TTLD on both hands and feet, and neurological findings: spastic paresis, epilepsy and suspicion of intellectual deficit. Molecular genetic analysis (next‐generation sequencing) revealed a novel frameshift mutation in the EOGT gene in Exon 13 in homozygous constellation: c.1013dupA p.…”
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    Cutaneous squamous cell carcinoma in an autosomal‐recessive Adams–Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene
  12. 10432
    “…Deletions and duplications at the chromosomal region of 16p11.2 have a broad range of phenotypic effects including increased likelihood of intellectual disability, autism, attention deficit hyperactivity disorder (ADHD), epilepsy, and language and motor delays. …”
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    Sensory processing in 16p11.2 deletion and 16p11.2 duplication
  13. 10433
    “…Upon re-evaluating the etiology of KCS2, we suspected that the patient had the disorder because of clinical manifestations, such as cortical thickening and medullary stenosis of the bones, and lack of intellectual abnormalities. Genetic testing identified a heterozygous missense variant in the FAM111A gene (p.R569H). …”
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    Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up
  14. 10434
    “…The results showed that participants with SRS had similar performance (z-scores) to our controls, in a context of normal intellectual efficiency. Group comparisons with Bayesian statistics showed a single difference between the 11p15 LOM and control groups: the completion time for part A of the Trail Making Test appeared to be longer in the 11p15 LOM group than in the control group. …”
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    Executive functioning in adolescents and adults with Silver-Russell syndrome
  15. 10435
    “…We quantitively analyzed publications on DoC over the recent 10 years via bibliometrics analysis, to summarize the intellectual structure, current research hotspots, and future research trends in the field of DoC. …”
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    Ten-Year Change in Disorders of Consciousness: A Bibliometric Analysis
  16. 10436
    “…Caregivers of children with neurodevelopmental disorders (i.e., autism, intellectual disability, attention deficit, hyperactivity, motor disability) have a more essential role than caregivers of healthy children. …”
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    Salud mental de cuidadores de niños con trastornos del neurodesarrollo durante la pandemia
  17. 10437
    “…Most individuals with GRIN2B-related neurodevelopmental disorder present with intellectual disability and developmental delay. Motor impairments, autism spectrum disorder, and epilepsy are also common. …”
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    GRIN2B-related neurodevelopmental disorder: current understanding of pathophysiological mechanisms
  18. 10438
    “…Patient’s lives are often burdened with social difficulties in contact with their families, peers and in education, particularly when other disorders, diseases or intellectual impairment are present, leading to undesirable behaviours, including aggression or self-aggression. …”
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    Analysis of research on the effectiveness of using probiotics for children with autism spectrum disorders, in order to reduce the core and accompanying autism symptoms. Review of randomized clinical trials
  19. 10439
    “…Presently, no treatments exist for this rare disease that manifests with a spectrum of symptoms including intellectual disability, developmental delay, thin habitus, and low muscle tone. …”
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    Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a novel mouse model of Snyder-Robinson Syndrome
  20. 10440
    “…These patients present with a broad spectrum of neurodevelopmental symptoms, including global developmental delay, intellectual disability, epilepsy, musculo-skeletal anomalies, and altered pain perception. …”
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    Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
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