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Mostrando 3,021 - 3,040 Resultados de 12,673 Para Buscar '"Intellectual"', tiempo de consulta: 0.55s Limitar resultados
  1. 3021
    “…X-linked intellectual deficiency (XLID) is a large group of genetic disorders. …”
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    Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]
  2. 3022
    “…BACKGROUND: Visual or visual-and-intellectual disabilities of children make daily interactions more difficult for their parents and may impact the quality of the parent-child relationship. …”
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    The effectiveness of VIPP-V parenting training for parents of young children with a visual or visual-and-intellectual disability: study protocol of a multicenter randomized controlled trial
  3. 3023
    “…Little is known about COPMI with mild intellectual disabilities (ID), except that they have a high risk of developing social-emotional problems and require additional support. …”
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    ‘You are Okay’: a support and educational program for children with mild intellectual disability and their parents with a mental illness: study protocol of a quasi-experimental design
  4. 3024
    “…BACKGROUND: People with intellectual disabilities often present with unique challenges that make it more difficult to meet their palliative care needs. …”
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    Defining consensus norms for palliative care of people with intellectual disabilities in Europe, using Delphi methods: A White Paper from the European Association of Palliative Care
  5. 3025
    “…Whole-exome sequencing (WES) represents a significant breakthrough in clinical genetics, and identifies a genetic etiology in up to 30% of cases of intellectual disability (ID). Using WES, we identified seven unrelated patients with a similar clinical phenotype of severe intellectual disability or neurodevelopmental delay who were all heterozygous for de novo truncating variants in the AT-hook DNA-binding motif–containing protein 1 (AHDC1). …”
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    De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay
  6. 3026
    “…BACKGROUND: In adults with intellectual disability (ID) and epilepsy there are suggestions that improvements in management may follow introduction of epilepsy nurse-led care. …”
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    Improving outcomes in adults with epilepsy and intellectual disability (EpAID) using a nurse-led intervention: study protocol for a cluster randomised controlled trial
  7. 3027
    “…3q26.33‐3q27.2 microdeletion can be classified as a clinical entity characterized by intrauterine growth retardation, feeding problems in infancy, short stature, intellectual disability, hypotonia, dysmorphic facial features (medially sparse eyebrows, narrow horizontal palpebral fissures, epicanthal folds, flat nasal bridge and tip, short philtrum, and downturned corners of mouth), and teeth and feet abnormalities.…”
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    An 8.4‐Mb 3q26.33‐3q28 microdeletion in a patient with blepharophimosis–intellectual disability syndrome and a review of the literature
  8. 3028
    “…This protocol paper will provide details of the moving on and feeling good feasibility study, designed for young people with intellectual disabilities. METHODS/DESIGN: A multi-point recruitment strategy will be used to recruit 30 participants with a mild-moderate level of intellectual disability. …”
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    ‘Moving on and feeling good’: a feasibility study to explore the lifestyle behaviours of young adults with intellectual disabilities as they transition from school to adulthood—a study protocol
  9. 3029
    “…A 4-year-old boy with severe intellectual disability (ID) and characteristics of autism was found to have a de novo 1.9-Mb microdeletion in 7q31.33q32.1, in which LRRC4, GRM8, and 11 other genes were included. …”
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    A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism
  10. 3030
    “…Loss of GSPT2 and/or MAGED1 function may contribute to the intellectual disability and developmental delay seen in males with these deletions.…”
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    Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability
  11. 3031
    “…However, little is known of the effects of EBI in adults with intellectual (also known as learning) disabilities. In this feasibility trial we compared EBI with usual care for alcohol misuse in adults with mild to moderate Intellectual Disability (ID). …”
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    A feasibility randomised controlled trial of extended brief intervention for alcohol misuse in adults with mild to moderate intellectual disabilities living in the community; The EBI-LD study
  12. 3032
    “…In this report, we describe a family segregating autosomal dominant epilepsy, and a 37-year-old Caucasian female with a severe neurological phenotype including epilepsy, Parkinsonism, psychosis, visual and auditory hallucinations, gait ataxia and intellectual disability. Whole exome sequencing revealed two missense mutations in the TBC1D24 gene segregating within this family (c.1078C>T; p.Arg360Cys and c.404C>T; p.Pro135Leu). …”
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    Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability
  13. 3033
    Publicado 1844
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    An Account of the Constitution and Management of the Cotton-Mills in Lower Austria. With Especial Reference to the Moral, Intellectual, and Physical Education of the Children Employed in Them, and to the Legal Regulations Subsisting in This Respect
  14. 3034
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    Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia
  15. 3035
    “…RESULTS: The proband, a 17 month-old boy, presented with severe intellectual disability, developmental delay, specific facial features and special posture of hands. …”
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    Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family
  16. 3036
    “…METHODS: This paper sets out to explore the implementation of the NICE Guideline 11 on family interventions when working with persons with intellectual disability and challenging behavior by a group of psychologists employed in a government health facility in Cape Town, South Africa. …”
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    Where there is no evidence: implementing family interventions from recommendations in the NICE guideline 11 on challenging behaviour in a South African health service for adults with intellectual disability
  17. 3037
    por Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A., Suri, Mohnish, Lewis, Andrea M., Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O., Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T., Graham, Brett, Harris, Jill M., Gibson, James B., Pastore, Matthew, McBride, Kim L., Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A., Wierenga, Klaas J., Scott, Daryl A., Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Lloyd Holder Jr, J., Burrage, Lindsay C., Seaver, Laurie H., Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S., Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K., Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M., Gibbs, Richard A., Elsea, Sarah H., Posey, Jennifer E., Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M., Lupski, James R., Liu, Pengfei
    Publicado 2019
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    Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
  18. 3038
    “…BACKGROUND: Informed consent requires that individuals understand the nature of the study, risks and benefits of participation. Individuals with intellectual disabilities (ID) have cognitive and adaptive impairments that may affect their ability to provide informed consent. …”
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    Supporting informed clinical trial decisions: Results from a randomized controlled trial evaluating a digital decision support tool for those with intellectual disability
  19. 3039
    “…We here report a female patient with bilateral retinoblastoma and a severe intellectual disability who carries a reciprocal X-autosomal translocation. …”
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    A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report
  20. 3040
    “…BACKGROUND: Although Positive Behaviour Support (PBS) is a widely used intervention for ameliorating challenging behaviour (CB), evidence for its use in adults with intellectual disability (ID) and comorbid autism (ASD) is lacking. …”
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    Clinical and cost effectiveness of staff training in the delivery of Positive Behaviour Support (PBS) for adults with intellectual disabilities, autism spectrum disorder and challenging behaviour - randomised trial
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