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  1. 11881
    por Balagura, Ganna, Xian, Julie, Riva, Antonella, Marchese, Francesca, Ben Zeev, Bruria, Rios, Loreto, Sirsi, Deepa, Accorsi, Patrizia, Amadori, Elisabetta, Astrea, Guja, Baldassari, Simona, Beccaria, Francesca, Boni, Antonella, Budetta, Mauro, Cantalupo, Gaetano, Capovilla, Giuseppe, Cesaroni, Elisabetta, Chiesa, Valentina, Coppola, Antonietta, Dilena, Robertino, Faggioli, Raffaella, Ferrari, Annarita, Fiorini, Elena, Madia, Francesca, Gennaro, Elena, Giacomini, Thea, Giordano, Lucio, Iacomino, Michele, Lattanzi, Simona, Marini, Carla, Mancardi, Maria Margherita, Mastrangelo, Massimo, Messana, Tullio, Minetti, Carlo, Nobili, Lino, Papa, Amanda, Parmeggiani, Antonia, Pisano, Tiziana, Russo, Angelo, Salpietro, Vincenzo, Savasta, Salvatore, Scala, Marcello, Accogli, Andrea, Scelsa, Barbara, Scudieri, Paolo, Spalice, Alberto, Specchio, Nicola, Trivisano, Marina, Tzadok, Michal, Valeriani, Massimiliano, Vari, Maria Stella, Verrotti, Alberto, Vigevano, Federico, Vignoli, Aglaia, Toonen, Ruud, Zara, Federico, Helbig, Ingo, Striano, Pasquale
    Publicado 2022
    “…DISCUSSION: The disease course in STXBP1-DEE presents with 2 main trajectories, with either early seizure remission or drug-resistant epilepsy, and a range of neurodevelopmental outcomes from mild to profound intellectual disability. Age at seizure onset is the only epilepsy-related feature associated with neurodevelopment outcome. …”
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    Epilepsy Course and Developmental Trajectories in STXBP1-DEE
  2. 11882
    “…Mutations in isoleucyl-tRNA synthetase (IARS1) have recently been reported to be a genetic cause for growth retardation, intellectual disability, muscular hypotonia, and infantile hepatopathy (GRIDHH). …”
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    Compound heterozygous variations in IARS1 cause recurrent liver failure and growth retardation in a Chinese patient: a case report
  3. 11883
    “…Controlling for age and sex, intellectual disability (ID) was significantly associated with BMI (p = 0.003) but not hypertension (p = 0.69); those with moderate or more severe ID had a mean BMI that was 2.26 kg/m(2) (95% CI 0.96, 3.57) lower than those with no ID. …”
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    Prevalence and factors associated with overweight, obesity, and hypertension in a large clinical sample of adults with autism spectrum disorder
  4. 11884
    “…The General Cognitive Ability (GCA) score was the primary outcome measure, describing overall intellectual ability. Secondary outcome measures were measurements of cephalic index (CI) from pre- and postoperative imaging studies. …”
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    363 School-age Morphological And Neurodevelopmental Outcomes In Patients With Sagittal Craniosynos
  5. 11885
    “…GRIN2B mutations are rare but often associated with patients having severe neurodevelopmental disorders with varying range of symptoms such as intellectual disability, developmental delay and epilepsy. …”
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    Synaptic Dysfunction by Mutations in GRIN2B: Influence of Triheteromeric NMDA Receptors on Gain-of-Function and Loss-of-Function Mutant Classification
  6. 11886
    por Gao, Hui
    Publicado 2022
    “…CONCLUSION: PKU is caused by the defect of phenylalanine hydroxylase activity in children, which causes phenylalanine metabolism disorder, and tetrahydrobiopterin intervention therapy can affect the activity of phenylalanine hydroxylase, increase the decline rate of blood Phe, significantly reduce the level of phenylalanine in children, and promote intellectual recovery. The dose of tetrahydrobiopterin should be tailored, with small doses for mild phenotypes and long-term treatment using even smaller doses.…”
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    Influencing Factors on the Use of Tetrahydrobiopterin in Patients with Phenylketonuria
  7. 11887
    “…CONCLUSIONS: In the era of digitalization where information is rapidly disseminated, web-based prenatal education could become a more convenient, productive, and effective pathway for pregnant women since it could help them obtain adequate and optimal pregnancy-related information and gain more intellectual awareness about their pregnancy or preparation for pregnancy.…”
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    Present Situation and the Future Development of Web-Based Prenatal Education in China: Cross-sectional Web-Based Survey
  8. 11888
    “…Mutations in the TECPR2 gene are the cause of an ultra-rare neurological disorder characterized by intellectual disability, impaired speech, motor delay, and hypotonia evolving to spasticity, central sleep apnea, and premature death (SPG49 or HSAN9; OMIM: 615031). …”
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    Developing antisense oligonucleotides for a TECPR2 mutation-induced, ultra-rare neurological disorder using patient-derived cellular models
  9. 11889
    “…Untreated PKU, also known as PAH deficiency, results in severe and irreversible intellectual disability, epilepsy, behavioral disorders, and clinical features such as acquired microcephaly, seizures, psychological signs, and generalized hypopigmentation of skin (including hair and eyes). …”
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    Genetic etiology and clinical challenges of phenylketonuria
  10. 11890
    “…The conditions included Noonan spectrum disorders, skeletal disorders, craniosynostosis syndromes, Cornelia de Lange syndrome, Alagille syndrome, tuberous sclerosis, epileptic encephalopathy, SYNGAP1‐related intellectual disability, CHARGE syndrome, Sotos syndrome and Rett syndrome. …”
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    Clinical experience with non‐invasive prenatal screening for single‐gene disorders
  11. 11891
    “…Background: Intellectual developmental disorders are a serious source of health morbidity with negative consequences for adults as well as children. …”
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    Environmental Influences on the Behavioural and Emotional Outcomes of Children: A Network Analysis
  12. 11892
    “…OBJECTIVES: Infants born small for gestational age (SGA) with no catch-up growth (No-CU) are at high risk of intellectual and developmental disabilities. However, factors leading to No-CU among SGA infants are unclear. …”
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    High Maternal Total Cholesterol Is Associated With No-Catch-up Growth in Full-Term SGA Infants: The Japan Environment and Children’s Study
  13. 11893
    “…Of these studies, 20 had data available evaluating early-diagnosed PKU patients for meta-analysis of burden outcomes. Intellectual disability in the pooled studies was 18% [95% Confidence Interval (CI) 0.04–0.38; I(2) = 83.7%, p = 0.0133; two studies; n = 114]. …”
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    Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies
  14. 11894
    “…Visually impaired children, compared with children without visual impairment, more often had neurological deficits such as intellectual disability 63.8% versus 33.3% (p<0.001), epilepsy 21.1% versus 7.5% (p=0.001) and autism spectrum disorders 32.8% versus 20.9% (p=0.043). …”
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    Retrospective evaluation of ophthalmological and neurological outcomes for infants born before 24 weeks gestational age in a Swedish cohort
  15. 11895
    “…Patients with comorbidities of neurodevelopmental origin (such as autism, severe intellectual disability, attention deficit hyperactivity disorder, schizophrenia, tic disorder, Tourette syndrome, bipolar disorder, specific learning disorder and specific language impairment) were excluded. …”
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    Increased prevalence of minor physical anomalies in patients with epilepsy
  16. 11896
    “…Lack of insight in technological constraints due to intellectual property and software updates made the technology behind these outcome measures a kind of black box that could jeopardize long-term use in clinical development.…”
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    The Black Box of Technological Outcome Measures: An Example in Duchenne Muscular Dystrophy
  17. 11897
    “…Some variants fit into a framework wherein gain-of-function missense variants that increase neuronal excitability lead to developmental and epileptic encephalopathy, while loss-of-function variants that reduce neuronal excitability lead to intellectual disability and/or autism spectrum disorder (ASD) with or without co-morbid seizures. …”
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    Cellular and behavioral effects of altered Na(V)1.2 sodium channel ion permeability in Scn2a(K1422E) mice
  18. 11898
    por Chen, Jun, Yu, Xiaoming, Luo, Guangjin
    Publicado 2022
    “…CONCLUSION: TMS+CACT can effectively improve the intelligence level, cognitive ability, gross motor function, and cerebral blood flow of children suffering from cerebral palsy and intellectual disability.…”
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    Effects of Transcranial Magnetic Stimulation Combined with Computer-Aided Cognitive Training on Cognitive Function of Children with Cerebral Palsy and Dysgnosia
  19. 11899
    “…Autism has clinical manifestations such as social interaction disorder, speech and intellectual development disorder, narrow interest range, and stereotyped and repetitive behavior, all of which bring considerable economic and mental burden to society and families, and represent a public health problem requiring urgent attention. …”
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    Non-invasive, targeted, and non-viral ultrasound-mediated brain-derived neurotrophic factor plasmid delivery for treatment of autism in a rat model
  20. 11900
    “…Survey respondents included parents of children with a range of difficulties, including DLD, autism, verbal dyspraxia, global intellectual delay, a history of hearing problems, and SLCN without a primary diagnosis. …”
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    Supporting the mental health of children with speech, language and communication needs: The views and experiences of parents
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