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  1. 11321
    “…Clinical presentations were ataxia, gate disturbances and dystonia leading to wheelchair-dependent disability, regression of intellectual abilities, and general developmental regression. …”
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    Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene
  2. 11322
    “…TSC is associated with autism, intellectual disability and severe epilepsy. Cortical tubers are believed to represent the neuropathological substrates of these disabling manifestations in TSC. …”
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    Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment
  3. 11323
    “…A common phenotype emerged that included severe to profound intellectual disability and muscular hypotonia in all patients and an epilepsy characterized by infantile spasms in 16 of 21 patients, frequently evolving into Lennox-Gastaut syndrome. …”
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    DNM1 encephalopathy: A new disease of vesicle fission
  4. 11324
    “…While there were few major variations in response trends across most areas of health research, the responses of biomedical researchers suggested a unique KT context, reflected by distinct conceptualizations of KT (such as commercialization as a core component), experiences (including frustration and lack of support), and barriers to practicing KT (for example, intellectual property concerns). CONCLUSIONS: The major findings of this study were the continued variations in conceptualization of KT, and persisting support needs that span basic individual to comprehensive systemic change. …”
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    A descriptive qualitative examination of knowledge translation practice among health researchers in Manitoba, Canada
  5. 11325
    “…Countries need to implement the flexibilities in the Doha Declaration on Trade Related Intellectual Property Rights agreement, including compulsory licensing and patent opposition. …”
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    Access to medicines and hepatitis C in Africa: can tiered pricing and voluntary licencing assure universal access, health equity and fairness?
  6. 11326
    “…At each evaluation, three-dimensional analysis of upper limb movement muscle activity will be measured using electromyography, cerebral activity will be measured using an electroencephalogram system and intellectual capacity will be assessed using the Wechsler Intelligence Scale for Children. …”
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    Protocol study for a randomised, controlled, double-blind, clinical trial involving virtual reality and anodal transcranial direct current stimulation for the improvement of upper limb motor function in children with Down syndrome
  7. 11327
    “…Blaschke, BioFire Diagnostics LLC: Collaborator, Have intellectual property in BioFire Diagnostics through the University of Utah and Investigator, Licensing agreement or royalty and Research support; R. …”
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    Detection of Respiratory Pathogens in Parapneumonic Effusions by Hypothesis-free, Next-Generation Sequencing (NGS)
  8. 11328
    “…A total of 26 children were diagnosed with anxiety disorders, 12 with depressive disorders, 8 with trauma and related disorders, 5 with elimination disorders, 4 with attention deficit/hyperactivity disorder, and 3 with intellectual disabilities. It was determined that seeing a dead or injured person during war/emigration and the father’s unemployment increased the risk of psychopathology. …”
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    Immigration-related mental health disorders in refugees 5–18 years old living in Turkey
  9. 11329
    por Bishop, Dorothy V. M.
    Publicado 2017
    “…We concluded that it was misleading to assume co‐occurring conditions were causes of language disorder, but it was helpful to distinguish DLD from cases of language disorder associated with ‘differentiating conditions’ that had a known or likely biomedical origin, including brain injury, sensorineural hearing loss, genetic syndromes, intellectual disability and autism spectrum disorder. …”
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    Why is it so hard to reach agreement on terminology? The case of developmental language disorder (DLD)
  10. 11330
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    Spine Stereotactic Body Radiation Therapy Residual Setup Errors and Intra-Fraction Motion Using the Stereotactic X-Ray Image Guidance Verification System
  11. 11331
    por Sears, James C., Broadie, Kendal
    Publicado 2018
    “…Fragile X syndrome (FXS) is the leading monogenic cause of autism and intellectual disability. The disease arises through loss of fragile X mental retardation protein (FMRP), which normally exhibits peak expression levels in early-use critical periods, and is required for activity-dependent synaptic remodeling during this transient developmental window. …”
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    Fragile X Mental Retardation Protein Regulates Activity-Dependent Membrane Trafficking and Trans-Synaptic Signaling Mediating Synaptic Remodeling
  12. 11332
    “…Alterations in RS have been associated with behavioural problems in FXS; however, relations between RS and intellectual functioning have not yet been elucidated. …”
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    Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach
  13. 11333
    “…It is also characterized by high rates of neurological and neuropsychiatric abnormalities, including epilepsy affecting 70–90% of patients and being one of the major risk factors of intellectual disability. The first seizures in TSC patients appear usually between the 4th and the 6th months of life. …”
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    Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?
  14. 11334
    “…The impact of early, optimal nutrition on health and intellectual development resonated with them. The IYCN narrative in the Breede Valley could therefore be framed around nutrition’s development impact in a well-structured advocacy campaign. …”
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    What does an enabling environment for infant and young child nutrition look like at implementation level? Perspectives from a multi-stakeholder process in the Breede Valley Sub-District, Western Cape, South Africa
  15. 11335
    “…Patients were diagnosed with schizophrenia (n = 5), autism spectrum disorders (n = 2), intellectual disability with challenging behavior (n = 2), oppositional defiant disorder (n = 1), and post-traumatic stress and borderline personality disorders (n = 1). …”
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    Pharmacoresistant Severe Mental Health Disorders in Children and Adolescents: Functional Abnormalities of Cytochrome P450 2D6
  16. 11336
    “…Assessments consist of an intellectual screen, PEERS® subtests, and PEERS-Q, a self-report questionnaire of social skills. …”
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    Protocol for a prospective, school-based standardisation study of a digital social skills assessment tool for children: The Paediatric Evaluation of Emotions, Relationships, and Socialisation (PEERS) study
  17. 11337
    “…A novel autosomal recessive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia and oculomotor apraxia. …”
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    SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome
  18. 11338
    “…Delayed psychomotor development, intellectual disability, intrauterine growth retardation (IUGR), prematurity, congenital heart disease, cerebral malformations and dysmorphisms correlated to reported pathogenic CNVs. …”
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    Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies
  19. 11339
    “…We studied group-I metabotropic glutamate (mGlu) receptors in Pah(enu2) (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID). Male ENU2 mice showed increased mGlu5 receptor protein levels in the hippocampus and corpus striatum (but not in the prefrontal cortex) whereas the transcript of the mGlu5 receptor was unchanged. …”
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    Targeting mGlu5 Metabotropic Glutamate Receptors in the Treatment of Cognitive Dysfunction in a Mouse Model of Phenylketonuria
  20. 11340
    por Owen, Michael
    Publicado 2018
    “…Owen, Wales, will present the latest genetic data from the largest genome-wide genetic analyses to date in psychotic disorders (schizophrenia and bipolar disorder) and neurodevelopmental disorders (autism, intellectual disability and ADHD), comprising samples from over 100,000 patients and controls. …”
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    9. DOES BIOLOGY READ THE DSM? TRANSDIAGNOSTIC FINDINGS IN PSYCHOSIS AND IMPLICATIONS FOR TREATMENT
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