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  1. 10841
    “…There were no associated extra-cutaneous features such as short stature, cryptorchidism, photophobia, corneal opacities, male baldness, and behavioral, cognitive, or neurological phenotypes including intellectual disability, autism or attention deficit hyperactivity disorder. …”
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    A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
  2. 10842
    “…Recent studies have illustrated some of the security implications of biotechnology, with outcomes of misuse ranging from compromised computers using malware stored in synthesised DNA, infringement of intellectual property on biological matter, synthesis of new threatening viruses, ‘genetic genocide,’ and the exploitation of food markets with genetically modified crops. …”
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    A systematic review protocol for crime trends facilitated by synthetic biology
  3. 10843
    “…Phase I will involve testing of 200 patients and corresponding informants, using the autism quotient (AQ), the informant version of the Social Responsiveness Scale, second edition—Adult, the self and informant versions of the Adult Social Behaviour Questionnaire and the EuroQol-5D-5L. Patients with intellectual disability (ID) will bypass Phase I. Phase II will involve diagnostic testing of a subgroup of 40 patients with the Diagnostic Interview for Social and Communication Disorders, the Autism Diagnostic Observation Schedule version 2 and the ASD interview within the Schedules for Clinical Assessment in Neuropsychiatry version 3. 25±5 patients will not have ID and be selected via stratified random sampling according to AQ score; 15±5 patients will have ID. …”
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    Study protocol: an investigation of the prevalence of autism among adults admitted to acute mental health wards: a cross-sectional pilot study
  4. 10844
    “…In particular, very premature birth (gestation age between 28 and less than 32 weeks) may put infants at increased risk of intellectual deficits and attention deficit disorder. …”
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    Training attention control of very preterm infants: protocol for a feasibility study of the Attention Control Training (ACT)
  5. 10845
    “…The MI community experienced miscarriages, stillbirths, and intellectual and developmental disabilities. Organizational MI community leaders expressed a need to explore the voices of MI parent leaders (MIPLs). …”
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    Cultural Narratives of Micronesian Islander Parent Leaders: Maternal and Children’s Health, the School System, and the Role of Culture
  6. 10846
    “…Patients in these clusters differed significantly in ADOS-defined severity, adaptive behavior profiles, intellectual ability, and verbal status, the latter contributing the most for cluster stability and cohesion. …”
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    Identification of biological mechanisms underlying a multidimensional ASD phenotype using machine learning
  7. 10847
    “…Gain-of-function mutations in KCNT1, the gene encoding Slack (K(Na)1.1) channels, result in epilepsy of infancy with migrating focal seizures (EIMFS) and several other forms of epilepsy associated with severe intellectual disability. We have generated a mouse model of this condition by replacing the wild type gene with one encoding Kcnt1(R455H), a cytoplasmic C-terminal mutation homologous to a human R474H variant that results in EIMFS. …”
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    Impaired motor skill learning and altered seizure susceptibility in mice with loss or gain of function of the Kcnt1 gene encoding Slack (K(Na)1.1) Na(+)-activated K(+) channels
  8. 10848
    “…Their average onset age of seizures was around 2 months, and all of them have intractable epileptic seizures, severe intellectual disability, and hypotension. Among them, two presented infantile spasm and high arrhythmia in EEG, and the other manifested clonic seizure and broad epileptiform discharge in EEG. …”
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    Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders
  9. 10849
    “…Of IEM patients, 6 (46%) had intellectual disability (FSIQ and GAC <70), 5 (39%) had autism spectrum disorder, and 1/13 (8%) had cerebral palsy, compared to 1/26 (4%), 0, 0, and 0% of matched patients, respectively. …”
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    Pre‐school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched‐comparison study
  10. 10850
    “…Bibliographic information, sample characteristics, and data on bridging was extracted and included in the qualitative synthesis. RESULTS: Intellectual and/or Developmental disabilities were the most studied population (76% of articles), and most articles were published in the United States (57%). …”
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    A scoping review to characterize bridging tasks in the literature on aging with disability
  11. 10851
    “…Pathogenic variants in TRIO are associated with neurodevelopmental diseases, including intellectual disability (ID) and autism spectrum disorders (ASD). …”
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    Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders
  12. 10852
    “…Additionally, it has been said that the medical interview is the first diagnostic and therapeutic tool, involving both intellectual and emotional skills on the part of the doctor. …”
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    Using String Metrics to Improve the Design of Virtual Conversational Characters: Behavior Simulator Development Study
  13. 10853
    “…The scaffold protein connector enhancer of kinase suppressor of Ras 2 (CNK2) is predominantly expressed in neural tissues and was recently implicated in X-linked intellectual disability (ID). We have investigated the role of CNK2 in neurons in order to contribute to our understanding of how CNK2 alterations might cause developmental defects, and we have elucidated a functional role for CNK2 in the molecular processes that govern morphology of the postsynaptic density (PSD). …”
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    Disease-associated synaptic scaffold protein CNK2 modulates PSD size and influences localisation of the regulatory kinase TNIK
  14. 10854
    por Kuo, Susan S., Eack, Shaun M.
    Publicado 2020
    “…These findings were largely stable across age, sex, intelligence quotient (IQ), intellectual disability, scale version, and age- and sex-matching. …”
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    Meta-Analysis of Cognitive Performance in Neurodevelopmental Disorders during Adulthood: Comparisons between Autism Spectrum Disorder and Schizophrenia on the Wechsler Adult Intelligence Scales
  15. 10855
    “…Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. …”
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    Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
  16. 10856
    “…Protective factors included family cohesion, hobbies, intellectual curiosity as a career motivation and no worries about the future. …”
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    Prevalence of depressive symptoms among Italian medical students: The multicentre cross-sectional “PRIMES” study
  17. 10857
    “…Deletions of each of these three regions have previously been implicated in a variable range of clinical phenotypes, including minor dysmorphism, developmental delay/intellectual disability, epilepsy, autism spectrum disorders, behavioral disturbances, and speech disorders. …”
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    Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy
  18. 10858
    “…METHODS: We present the case of a 40 year old single Chinese female with borderline intellectual disability who was working as a sales assistant. …”
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    T108. CASE REPORT OF A PATIENT WITH CATATONIA
  19. 10859
    “…CONCLUSIONS: The findings indicate that poor motor coordination is highly prevalent and closely linked to risk of mental health disorder and lower intellectual function in children with ND-CNVs. Future research should explore whether early interventions for poor coordination ability could ameliorate neurodevelopmental risk.…”
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    Coordination difficulties, IQ and psychopathology in children with high-risk copy number variants
  20. 10860
    “…We discuss the following key points using a series of teaching vignettes: (1) integrated training in classic and novel techniques is needed to develop future scientists and professionals who can work from the micro (interactions between pathogens, their cohabiting microbiota, and the host at a molecular and cellular level), with the meso (the affected communities), and to the macro (wider contextual drivers of disease); (2) teach students to use a team-science multidisciplinary approach to effectively integrate biological, clinical, epidemiological, and social tools into public health; and (3) develop the intellectual skills to critically engage with emerging technologies and resolve evolving ethical dilemmas. …”
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    From the micro to the macro to improve health: microorganism ecology and society in teaching infectious disease epidemiology
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