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  1. 10161
    “…The evaluation of meaningless stimuli entails automatic associations influenced by knowledge, intellectual interests and individual experiences which are diverse. …”
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    The role of gender and academic degree on preference for smooth curvature of abstract shapes
  2. 10162
    “…Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited autosomal recessive disorder characterized by insensitivity to noxious stimuli, anhidrosis, recurrent fever, and intellectual disability. CIPA is mainly caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1). …”
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    Novel Gross Deletion Mutations in NTRK1 Gene Associated With Congenital Insensitivity to Pain With Anhidrosis
  3. 10163
    “…Results: A total of 25 respondents reported prescribing VLDT; 19 used VLDT to treat autism spectrum disorder, 14 for tics, 12 for speech delay, 9 for Rett syndrome, 7 for attention-deficit/hyperactivity disorder, intellectual disability, and 6 for sleep problems. Twelve respondents reported prescribing a dose of 0.5 mg/kg. …”
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    Very-Low-Dose Levodopa Therapy for Pediatric Neurological Disorders: A Preliminary Questionnaire in Japan
  4. 10164
    “…OBJECTIVES: This study was designed to explore the intellectual landscape of research into the application of sphingosine 1 phosphate (S1P) in age-related diseases and to identify thematic development trends and research frontiers in this area. …”
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    Trends in the Use of Sphingosine 1 Phosphate in Age-Related Diseases: A Scientometric Research Study (1992-2020)
  5. 10165
    “…Aberrations in the excitatory/inhibitory balance within the brain have been associated with both intellectual disability (ID) and schizophrenia (SZ). …”
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    Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders
  6. 10166
    “…Numerous studies indicate that deficits in the proper integration or migration of specific GABAergic precursor cells from the subpallium to the cortex can lead to severe cognitive dysfunctions and neurodevelopmental pathogenesis linked to intellectual disabilities. A different set of GABAergic precursors cells that express Pax2 migrate to hindbrain regions, targeting, for example auditory or somatosensory brainstem regions. …”
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    Deletion of BDNF in Pax2 Lineage-Derived Interneuron Precursors in the Hindbrain Hampers the Proportion of Excitation/Inhibition, Learning, and Behavior
  7. 10167
    por Glinton, Kevin E., Hurst, Anna C. E., Bowling, Kevin M., Cristian, Ingrid, Haynes, Devon, Adstamongkonkul, Dusit, Schnappauf, Oskar, Beck, David B., Brewer, Carole, Parikh, Aditi Shah, Shinde, Deepali N., Donaldson, Alan, Brautbar, Ariel, Koene, Saskia, van Haeringen, Arie, Piton, Amélie, Capri, Yline, Furlan, Margherita, Gardella, Elena, Møller, Rikke Steensbjerre, van de Beek, Irma, Zuurbier, Linda, Lakeman, Phillis, Bayat, Allan, Martinez, Julian, Signer, Rebecca, Torring, Pernille M., Engelund, Morten Buch, Gripp, Karen W., Amlie‐Wolf, Louise, Henderson, Lindsay B., Midro, Alina T., Tarasów, Eugeniusz, Stasiewicz‐Jarocka, Beata, Moskal‐Jasinska, Diana, Vos, Paul, Boschann, Felix, Stoltenburg, Corinna, Puk, Oliver, Mero, Inger‐Lise, Lossius, Kristine, Mignot, Cyril, Keren, Boris, Acosta Guio, Johanna C., Briceño, Ignacio, Gomez, Alberto, Yang, Yaping, Stankiewicz, Pawel
    Publicado 2021
    “…Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features, is a syndrome resulting from heterozygous variants in the dosage‐sensitive bromodomain PHD finger chromatin remodeler transcription factor BPTF gene. …”
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    Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
  8. 10168
    por Roldan, Alba, Reina, Raul
    Publicado 2021
    “…Similar gains were obtained in both groups for the three subscales of the SE scale (p < 0.001, large effect sizes): intellectual, physical, and visual disability. No significant differences were found for comparisons between groups and the interaction effect of the course taught, nor for the three demographic co-variables. …”
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    Are Self-Efficacy Gains of University Students in Adapted Physical Activity Influenced by Online Teaching Derived From the COVID-19 Pandemic?
  9. 10169
    “…In the heterogenous population of PWE, including patients with drug-resistant epilepsy, physical/intellectual disability, and comorbidities, we were not able to identify any risk factors for contracting COVID-19. …”
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    COVID-19 among patients with epilepsy: Risk factors and course of the disease
  10. 10170
    “…Loss-of-function mutations in the human oligophrenin-1 (OPHN1) gene cause intellectual disability, a prevailing neurodevelopmental condition. …”
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    Drosophila Graf regulates mushroom body β-axon extension and olfactory long-term memory
  11. 10171
    “…OBJECTIVE: To describe the phenotypic spectrum in patients with MBD5-associated neurodevelopmental disorder (MAND) and seizures; features of MAND include intellectual disability, epilepsy, psychiatric features of aggression and hyperactivity, and dysmorphic features including short stature and microcephaly, sleep disturbance, and ataxia. …”
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    Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
  12. 10172
    “…Similar to previous observations, the most common clinical symptoms are developmental delay, intellectual disability, and movement disorders. All patients received treatment with l‐dopa and 5‐hydroxytryptophan, while only the ar GTPCH, the PTPS, and one DHPR deficient patients were supplemented in addition with BH4. …”
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    Tetrahydrobiopterin deficiencies: Lesson from clinical experience
  13. 10173
    “…Since 2015, members organized 15 forums covering topics such as FDA premarket submissions, gene therapy, and intellectual property for devices and therapeutics. Through user feedback, targeted surveys, and ongoing iterative processes, we refined and maintained a shared regulatory website, which reached 6000+ users in 2019. …”
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    ReGARDD (Regulatory Guidance for Academic Research of Drugs and Devices): The evolution of a collaborative regional CTSA-funded forum and website for regulatory support
  14. 10174
    “…Intellectual disability encompasses a wide spectrum of neurodevelopmental disorders, with many linked genetic loci. …”
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    Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features
  15. 10175
    “…Children affected by CDD display a clinical phenotype characterized by early-onset epilepsy, intellectual disability, motor impairment, and autistic-like features. …”
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    Age-Related Cognitive and Motor Decline in a Mouse Model of CDKL5 Deficiency Disorder is Associated with Increased Neuronal Senescence and Death
  16. 10176
    “…All patients presented delays in developmental milestones, severe intellectual disabilities and lack of speech. Six patients exhibited infantile hypotonia, five patients experienced stereotypic movements and were unable to walk, four patients exhibited poor eye contact indicative of autism and two showed poor performance. …”
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    Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations
  17. 10177
    “…BACKGROUND: Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of chronic encephalopathies characterized by epilepsy with comorbid intellectual disability that are frequently associated with de novo nonsynonymous coding variants in ion channels, cell-surface receptors, and other neuronally expressed genes. …”
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    A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report
  18. 10178
    “…Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability. FXS is caused by functional loss of the Fragile X Protein (FXP), also known as Fragile X Mental Retardation Protein (FMRP). …”
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    GABA(A) Alpha 2,3 Modulation Improves Select Phenotypes in a Mouse Model of Fragile X Syndrome
  19. 10179
    “…In patients with skeletal involvement and other clinical manifestations including dysmorphism or multiple congenital anomalies, and various degrees of developmental delay/intellectual disability, the diagnosis rate was low (5 out of 16, 31.2%) but rare syndromic SD could be diagnosed. …”
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    Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience
  20. 10180
    “…Down syndrome (DS, Trisomy 21) and Williams syndrome (WS) are two neurodevelopmental disorders of genetic origin that are accompanied by mild to moderate intellectual disability but exhibit distinct cognitive profiles. …”
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    A Critical Review of Spatial Abilities in Down and Williams Syndromes: Not All Space Is Created Equal
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