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  1. 12061
    “…BACKGROUND: CDKL5 deficiency disorder (CDD), a severe neurodevelopmental disorder characterized by early onset epilepsy, intellectual disability, and autistic features, is caused by mutations in the CDKL5 gene. …”
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    Inhibition of microglia overactivation restores neuronal survival in a mouse model of CDKL5 deficiency disorder
  2. 12062
    “…The survey showed that most social assistance services, from free educational/development services for those with intellectual disability to transition from childhood to adult care and job placement support, are available for a limited number of patients or are unknown to the majority of patients or their parents/caregivers. …”
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    Social and medical needs of rare metabolic patients: results from a MetabERN survey
  3. 12063
    “…The ADI-R relies on parent report and hence has some level of subjectivity, while the Wechsler intelligence scales can underestimate the intellectual abilities of some autistic children. CONCLUSIONS: These results confirm that specific RRB are differentially linked to age and NVIQ. …”
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    Non-verbal IQ and change in restricted and repetitive behavior throughout childhood in autism: a longitudinal study using the Autism Diagnostic Interview-Revised
  4. 12064
    “…BACKGROUND: Smith–Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder characterized by intellectual disability and severe behavioural and sleep disturbances. …”
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    Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials
  5. 12065
    “…BACKGROUND: Heterozygous variants in CNTNAP2 have been implicated in a wide range of neurological phenotypes, including intellectual disability (ID), epilepsy, autistic spectrum disorder (ASD), and impaired language. …”
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    Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants
  6. 12066
    “…Background: Fragile X syndrome (FXS), the most common single-gene cause of intellectual disability and autism spectrum disorder (ASD), is caused by a >200-trinucleotide repeat expansion in the 5’ untranslated region of the fragile X mental retardation 1 (FMR1) gene. …”
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    Gaboxadol in Fragile X Syndrome: A 12-Week Randomized, Double-Blind, Parallel-Group, Phase 2a Study
  7. 12067
    por Iqbal, Maria, Maroofian, Reza, Çavdarlı, Büşranur, Riccardi, Florence, Field, Michael, Banka, Siddharth, Bubshait, Dalal K., Li, Yun, Hertecant, Jozef, Baig, Shahid Mahmood, Dyment, David, Efthymiou, Stephanie, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Ali, Zafar, Scherf de Almeida, Tobias, Molinari, Florence, Mignon-Ravix, Cécile, Chabrol, Brigitte, Antony, Jayne, Ades, Lesley, Pagnamenta, Alistair T., Jackson, Adam, Douzgou, Sofia, Beetz, Christian, Karageorgou, Vasiliki, Vona, Barbara, Rad, Aboulfazl, Baig, Jamshaid Mahmood, Sultan, Tipu, Alvi, Javeria Raza, Maqbool, Shazia, Rahman, Fatima, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Sarwar, Yasra, Khan, Sheraz, Jameel, Muhammad, Noegel, Angelika A., Budde, Birgit, Altmüller, Janine, Motameny, Susanne, Höhne, Wolfgang, Houlden, Henry, Nürnberg, Peter, Wollnik, Bernd, Villard, Laurent, Alkuraya, Fowzan Sami, Osmond, Matthew, Hussain, Muhammad Sajid, Yigit, Gökhan
    Publicado 2021
    “…RESULTS: In all affected individuals who presented with a neurodevelopmental syndrome with progressive microcephaly, seizures, and intellectual disability we identified biallelic disease-causing variants in Protocadherin-gamma-C4 (PCDHGC4). …”
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    Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
  8. 12068
    “…RESULTS: All patients (all females, age range 18–56 years) showed a complex neurological phenotype characterised by varying combinations of spastic paraparesis, length-dependent motor/sensory-motor axonal polyneuropathy, and psychiatric disturbances with variable intellectual disability. All had non-ketotic hyperglycinemia and a homozygous pathogenic c.151_153delAAG (p.K51del) change in GLRX5. …”
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    GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome
  9. 12069
    “…BACKGROUND: Phelan McDermid syndrome (PMS) is a neurogenetic condition associated with a high prevalence of intellectual disability (ID) and autism spectrum disorder (ASD). …”
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    Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome
  10. 12070
    “…Similar results were observed in sensitivity (patients with an epilepsy diagnosis) and subgroup analyses [presence or absence of intellectual developmental disorders or age (≥ 65 and < 65 years)]. …”
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    Healthcare Resource Utilization Among Patients with Focal Seizures Treated with Eslicarbazepine Acetate in the US Long-Term Care Setting: A Retrospective Claims Database Analysis
  11. 12071
    “…CASE PRESENTATION: A Japanese man exhibited a mild developmental delay in early childhood and intellectual disability, followed by the appearance of a spastic gait by age 13. …”
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    An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions
  12. 12072
    “…For disability, it was recommended that healthcare workers consider intellectual disability and sensory impairment when assessing for dementia. …”
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    Protection against discrimination in national dementia guideline recommendations: A systematic review
  13. 12073
    “…BACKGROUND: Down syndrome which is also known as “trisomy 21” is the commonest chromosomal defect that has been associated with intellectual disability or impairment. Clinically, it has been characterized by the generalized presence of hypotonic musculature, variety of neurobiological alterations, numerous respiratory diseases, and significantly higher risk of developing infection along with various dental abnormalities and oro-facial dysmorphological changes. …”
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    Implications of Down’s syndrome on oral health status in patients: A prevalence-based study
  14. 12074
    “…Bain type of X-linked syndromic intellectual developmental disorder, caused by pathogenic missense variants in HRNRPH2, was initially described in six female individuals affected by moderate-to-severe neurodevelopmental delay. …”
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    Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
  15. 12075
    “…Studies on women with intellectual disabilities were excluded. We used the National Institutes of Health tool for assessment of bias in individual studies and the Grading of Recommendations Assessment, Development and Evaluation method for assessment of quality of the primary outcome. …”
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    Psychiatric vulnerability and the risk for unintended pregnancies, a systematic review and meta-analysis
  16. 12076
    “…BACKGROUND: Individuals with pathogenic variants in SATB2 display intellectual disability, speech and behavioral disorders, dental abnormalities and often features of Pierre Robin sequence. …”
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    SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients
  17. 12077
    “…CONCLUSIONS: COVAX’s pivot from global vaccine procurement mechanism to dose-sharing hub can be seen as a “win-win-win” solution for COVAX itself (who could claim success by having access to more doses), for donor countries (who could rebrand themselves as charitable donors rather than “vaccine hoarders”), and for the pharmaceutical industry (maintaining the status quo on intellectual property rights and protecting their commercial interests). …”
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    COVAX, vaccine donations and the politics of global vaccine inequity
  18. 12078
    “…AIM: To determine sets of intellectual, personal, social, and emotional abilities that comprise core qualifications in medicine for performing well in anamnesis-taking, in order to identify training needs. …”
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    Importance of communication in medical practice and medical education: An emphasis on empathy and attitudes and their possible influences
  19. 12079
    “…All were right-handed and did not present intellectual or attention deficits. In all children, procedural perceptual-motor learning was assessed using a bimanual visuo-spatial serial reaction time task (SRTT) and motor skills using the Movement Assessment Battery for Children (M-ABC). …”
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    Atypical connectivity in the cortico-striatal network in NF1 children and its relationship with procedural perceptual-motor learning and motor skills
  20. 12080
    “…The autistic sample was unrepresentative of the whole population, particularly autistic people with intellectual disabilities, ethnic/racial minorities, and gender minorities. …”
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    The relevance of the interpersonal theory of suicide for predicting past-year and lifetime suicidality in autistic adults
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