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  1. 11841
    “…One definition describes wellness as having eight dimensions: Intellectual, emotional, physical, social, occupational, financial, environmental, and spiritual. …”
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    Medical student wellness in the United States during the COVID-19 pandemic: a nationwide survey
  2. 11842
    por Carmignac, Virginie, Mignot, Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Aubriot-Lorton, Marie-Hélène, Parker, Victoria E. R., Sorlin, Arthur, Fraitag, Sylvie, Courcet, Jean-Benoît, Duffourd, Yannis, Rodriguez, Diana, Knox, Rachel G., Polubothu, Satyamaanasa, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency, Véronique, Riachi, Melissa, Quelin, Chloé, Rollier, Paul, Goujon, Louise, Grotto, Sarah, Capri, Yline, Jacquemont, Marie-Line, Odent, Sylvie, Amram, Daniel, Chevarin, Martin, Vincent-Delorme, Catherine, Catteau, Benoît, Guibaud, Laurent, Arzimanoglou, Alexis, Keddar, Malika, Sarret, Catherine, Callier, Patrick, Bessis, Didier, Geneviève, David, Deleuze, Jean-François, Thauvin, Christel, Semple, Robert K., Philippe, Christophe, Rivière, Jean-Baptiste, Kinsler, Veronica A., Faivre, Laurence, Vabres, Pierre
    Publicado 2021
    “…CONCLUSION: MTOR-related HI is a recognizable neurocutaneous phenotype of patterned dyspigmentation, epilepsy, intellectual deficiency, and brain overgrowth, and a distinct subtype of hypomelanosis related to somatic mosaicism. …”
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    Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
  3. 11843
    “…PURPOSE: We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder who carry heterozygous missense variants of the PRKAR1B gene, which encodes the R1β subunit of the cyclic AMP-dependent protein kinase A (PKA). …”
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    Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
  4. 11844
    “…For the latter, we focused on de novo variants in patients that presented with neurodevelopmental delay (NDD) and/or intellectual disability (ID), which are the most common reasons for genetic testing referrals. …”
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    Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
  5. 11845
    “…Total ADL scores were significantly correlated with NCRS (r(2) = 0.55, p < 0.001) and BARS scores (r(2) = 0.764; p < 0.001). Severe intellectual disability, peripheral neuropathy, and severe PMM2 variants were all significantly associated with worse functional outcome. …”
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    Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
  6. 11846
    “…Fragile X syndrome (FXS), a disorder of synaptic development and function, is the most prevalent genetic form of intellectual disability and autism spectrum disorder. …”
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    Effects of the sigma-1 receptor agonist blarcamesine in a murine model of fragile X syndrome: neurobehavioral phenotypes and receptor occupancy
  7. 11847
    “…Adequately balanced daily food rations that provide the body with sufficient amounts of energy and nutrients, including minerals, are particularly important in early childhood when rapid physical, intellectual and motor development takes place. Cow’s milk (CM) and young-child formulas (YCFs) are introduced to a child’s diet past the first year of age. …”
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    A Comparison of the Effects of Young-Child Formulas and Cow’s Milk on Nutrient Intakes in Polish Children Aged 13–24 Months
  8. 11848
    “…Other clinical improvements observed with B12 included sleep, gastrointestinal symptoms, hyperactivity, tantrums, nonverbal intellectual quotient, vision, eye contact, echolalia, stereotypy, anemia, and nocturnal enuresis. …”
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    The Effectiveness of Cobalamin (B12) Treatment for Autism Spectrum Disorder: A Systematic Review and Meta-Analysis
  9. 11849
    “…Probands presented with (1) moderate-to-profound global developmental delay (GDD)/intellectual disability (ID); or (2) mild GDD/ID with epilepsy or congenital anomaly; and/or (3) MCA. …”
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    A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
  10. 11850
    por Zhang, Han, Wu, Ye, Jiang, Yuwu
    Publicado 2021
    “…CNNM2 (Cystathionine-β-synthase-pair Domain Divalent Metal Cation Transport Mediator 2) pathogenic variants have been reported to cause hypomagnesemia, epilepsy, and intellectual disability/developmental delay (ID/DD). …”
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    CNNM2-Related Disorders: Phenotype and Its Severity Were Associated With the Mode of Inheritance
  11. 11851
    “…METHODS: Using a randomized waitlist control design, the present study evaluated a multi-family group psychoeducation intervention, Working Together, for adults on the autism spectrum without intellectual disability (n = 40). Five waves of data were collected at 3-month intervals. …”
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    Impact of Working Together for adults with autism spectrum disorder: a multifamily group intervention
  12. 11852
    “…RESULTS: The role conception of physicians is as a figure of intellectual authority positioned at the top of a traditional hierarchy, with a personal character of criticism/autonomy/closedness, not accommodative of interference from others, and upholding the Biomedical Model as an absolute standard. …”
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    What role conceptions do multi-healthcare professionals have of physicians and what role expectation do they have of physicians in a community?
  13. 11853
    “…The eight probands all had focal seizures and focal discharges in EEG recordings, including two patients who experienced frequent daily seizures and one who showed abnormalities in the hippocampus by brain MRI; however, all of the patients showed a favourable outcome without intellectual or developmental abnormalities. The identified UNC13B variants included one nonsense variant, two variants at or around a splice site, one compound heterozygous missense variant and four missense variants that cosegregated in the families. …”
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    UNC13B variants associated with partial epilepsy with favourable outcome
  14. 11854
    “…BACKGROUND: Rett syndrome (RTT) is characterized by a normal perinatal period with a normal head size at birth followed by normal development for the first 6 months of life followed by gradual deceleration of head growth, loss of acquired purposeful hand skills, severe expressive and receptive language impairment, severe intellectual disability and gait and truncal apraxia/ ataxia. …”
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    A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome
  15. 11855
    “…This included structural indicators (research institutions and research funding), process indicators (clinical trial infrastructures, intellectual property rights and regulatory capacities) and output indicators (publications and citations). …”
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    Measuring health science research and development in Africa: mapping the available data
  16. 11856
    “…RESULTS: In 2002, Kerala had 194 persons per hundred thousand population with mental retardation and intellectual disability which increased to 300 persons per hundred thousand population in 2018. …”
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    The burden of mental health illnesses in Kerala: a secondary analysis of reported data from 2002 to 2018
  17. 11857
    “…CONCLUSION: The main clinical manifestations of 18q- syndrome include characteristic appearance, intellectual disability, and abnormal genital development. …”
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    Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review
  18. 11858
    “…Kinase D interacting substrate of 220 kDa (KIDINS220) gene has been recently associated with schizophrenia and with a novel syndrome characterized by spastic paraplegia, intellectual disability, nystagmus and obesity (SINO syndrome), diseases frequently occurring with ventriculomegaly. …”
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    Kidins220 deficiency causes ventriculomegaly via SNX27-retromer-dependent AQP4 degradation
  19. 11859
    “…The lowest prevalence rates included schizophrenia (2.42%, 95% CI 0.78–4.84%), panic disorders (3.88%, 95% CI 3.17% – 4.64%), adjustment disorders (3.83%, 95% CI 1.19–7.84%) and intellectual disability (2.90%, 95% CI 0.90–5.80%). Meta-regressions for psychotic disorder and personality disorder revealed no significant differences across study year, sample size and gender. …”
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    Prevalence of mental disorders in prisons in the UK: a systematic review and meta-analysis
  20. 11860
    por Lane, Andrew Stuart, Roberts, Chris
    Publicado 2022
    “…Our program of research demonstrated that contextualised reflective competence was related to critical cognitive frameworks, such as intellectual humility, situational awareness, the development of a ‘growth mindset’, and belongingness. …”
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    Contextualised reflective competence: a new learning model promoting reflective practice for clinical training
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