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  1. 10701
    “…BACKGROUND: Even though Down syndrome is the most common chromosomal cause of intellectual disability, studies on early development are scarce. …”
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    The motor repertoire in 3- to 5-month old infants with Down syndrome
  2. 10702
    “…Examples include SUMF1, KDM5B and MXRA5 (Known-ASD genes), PRODH2 and KCTD21 (implicated in schizophrenia), as well as USP9X and SMS (implicated in intellectual disability). Consistent with expectation and previous studies, most of the genes implicated herein are enriched for biological processes pertaining to neuronal function. …”
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    Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families
  3. 10703
    “…On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability. …”
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    Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases
  4. 10704
    “…We examine the effects of current legal rules on demand-side innovation, including insurance regulation, intellectual property rules, privacy protections, and FDA regulation of new healthcare technologies. …”
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    Promoting healthcare innovation on the demand side
  5. 10705
    “…BACKGROUND: Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by hyperpyrexia, anhidrosis, pain insensitivity, self-inflicted injuries, and intellectual disability. The anesthetic management of these patients is challenging owing to the high risk of perioperative complications resulting from their autonomic dysfunction, such as hyperthermia, hypotension, and bradycardia, which result from autonomic nervous system dysfunction. …”
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    Anesthetic management during adenotonsillectomy for twins with congenital insensitivity to pain with anhidrosis: two case reports
  6. 10706
    “…RESULTS: Herein, we report on a 30-year-old Moroccan woman who fitted the minimal criteria to suspect spEDS, but lacked radioulnar synostosis and intellectual disability and presented with neurosensorial hearing loss and limb edema of lymphatic origin. …”
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    Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome
  7. 10707
    “…BACKGROUND: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder, characterized by impaired social communication and restricted and repetitive behaviours, as well as associated features including intellectual disability and impaired sensorimotor function. …”
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    Long-term outcome of autistic spectrum disorder: a retrospective case study in a southern italian region
  8. 10708
    “…Participants were young adults with CF, aged 18–30 years without severe intellectual impairments. Participants were randomized to either life coaching or standard care. …”
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    Coach to cope: feasibility of a life coaching program for young adults with cystic fibrosis
  9. 10709
    “…As several monogenic neurodevelopmental disorders with links to Autism and Intellectual Disability share a common feature of dysregulated mTORC1 signaling, further understanding of the role of this signaling pathway in regulating synapse function and morphology will be essential in the development of novel therapeutic interventions.…”
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    Mechanistic target of rapamycin is necessary for changes in dendritic spine morphology associated with long-term potentiation
  10. 10710
    “…Transcription factor MEF2C regulates multiple genes linked to autism spectrum disorder (ASD), and human MEF2C haploinsufficiency results in ASD, intellectual disability, and epilepsy. However, molecular mechanisms underlying MEF2C haploinsufficiency syndrome remain poorly understood. …”
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    NitroSynapsin therapy for a mouse MEF2C haploinsufficiency model of human autism
  11. 10711
    “…RESULTS: The affected male subjects presented with a broad range of neurodevelopmental symptoms (severe intellectual disability, developmental delay, seizure, language deficit, and autism spectrum disorder) as well as facial dysmorphism and other symptoms which were consistent with that of Western patients previous reported. …”
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    Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family
  12. 10712
    “…AIFM1 mutations have previously been associated with neurologic presentations as varied as intellectual disability, hearing loss, neuropathy, and striatal necrosis, while AIFM1 mutations in this small region present with a distinct phenotype implicating bone. …”
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    X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1
  13. 10713
    “…Other motives were an interest from a young age (theme 1), being attracted by the job prospects (theme 5), and having an intellectual and science capacity (theme 6). Junior doctors gave at least two and up to six reasons for applying to enter the medical profession. …”
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    Reasons to pursue a career in medicine: a qualitative study in Sierra Leone
  14. 10714
    “…Multivariate analysis showed that educational processes or a long-term condition status were associated with increased transferability (OR 3.26 and 1.47, respectively), whereas patients with higher intellectual occupations or those with two or more associated health problems were associated with lower transferability (OR 0.33 and 0.81, respectively). …”
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    Impact of multimorbidity on healthcare professional task shifting potential in patients with type 2 diabetes in primary care: a French cross-sectional study
  15. 10715
    “…Her phenotypic expression included Achilles tendon masses, childhood-onset cataracts, intellectual disability, and cerebellar ataxia. A brain computed tomography showed non-enhancing hypodense lesions in the bilateral cerebellar hemispheres with mild brain atrophy. …”
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    Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review
  16. 10716
    por Rosen, Bruce, Israeli, Avi
    Publicado 2017
    “…True to its mission statement, the IJHPR is promoting “intensive intellectual interactions among scholars and practitioners from Israel and other countries regarding all aspects of health policy”. …”
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    Updates and reflections about the IJHPR, on the eve of its seventh year
  17. 10717
    “…OBJECTIVE: To ascertain the genetic and functional basis of complex autosomal recessive cerebellar ataxia (ARCA) presented by 2 siblings of a consanguineous family characterized by motor neuropathy, cerebellar atrophy, spastic paraparesis, intellectual disability, and slow ocular saccades. METHODS: Combined whole-genome linkage analysis, whole-exome sequencing, and focused screening for identification of potential causative genes were performed. …”
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    Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
  18. 10718
    por Godfrey, Mary, Lee, Nancy Raitano
    Publicado 2018
    “…Specifically, this review summarizes what is known about long-term, short-term, and working memory abilities (distinguishing between verbal and nonverbal modalities) in DS, compared to both mental age-matched typically developing peers and individuals with other forms of intellectual disability (ID) at three developmental stages (i.e., preschool, adolescence, and adulthood). …”
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    Memory profiles in Down syndrome across development: a review of memory abilities through the lifespan
  19. 10719
    “…Finally, we identified a human homolog of SAM2, and were able to refine a candidate gene region encompassing SAM2, among 21 annotated genes, which is associated with intellectual disability and autism spectrum disorder in the 12q14.1 deletion syndrome. …”
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    Targeted knockout of a chemokine-like gene increases anxiety and fear responses
  20. 10720
    “…Regaining ADL after six months was more likely in patients with pre-fracture intact intellectual function and independence in pre-fracture ADL; regaining IADL, in younger patients and those with higher pre-fracture IADL scores. …”
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    Predictors of a Change and Correlation in Activities of Daily Living after Hip Fracture in Elderly Patients in a Community Hospital in Poland: A Six-Month Prospective Cohort Study
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