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1741por Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista K., Johansson, Lennart F., van Essen, Anthonie J., Verheij, Johanna B. G. M., Veenstra-Knol, Hermine E., Redeker, Egbert J. W., Mannens, Marcel M. A. M., Swertz, Morris A., Alizadeh, Behrooz Z., van Ravenswaaij-Arts, Conny M. A., Sinke, Richard J., Sikkema-Raddatz, Birgit“…CONCLUSIONS: We demonstrate that whole-exome sequencing is a powerful tool for the diagnostic evaluation of patients with highly heterogeneous neurodevelopmental disorders such as intellectual disability with microcephaly. Our results confirm that autosomal recessive disorders are highly prevalent among patients with microcephaly. …”
Publicado 2016
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1742por Trollor, Julian N., Ruffell, Beth, Tracy, Jane, Torr, Jennifer J., Durvasula, Seeta, Iacono, Teresa, Eagleson, Claire, Lennox, Nicolas“…Topics of key relevance in intellectual disability health such as human rights issues, interdisciplinary team work and preventative health are poorly represented in intellectual disability teaching. …”
Publicado 2016
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1743por Nordahl, Christine Wu, Mello, Melissa, Shen, Audrey M., Shen, Mark D., Vismara, Laurie A., Li, Deana, Harrington, Kayla, Tanase, Costin, Goodlin-Jones, Beth, Rogers, Sally, Abbeduto, Leonard, Amaral, David G.“…MRI studies of individuals with ASD and comorbid intellectual disability (ID) are lacking, due in part to the challenges of acquiring images without the use of sedation. …”
Publicado 2016
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1744por Diéguez-Pérez, Montserrat, de Nova-García, Manuel-Joaquín, Mourelle-Martínez, Mª Rosa, Bartolomé-Villar, Begona“…INTRODUCTION: Traditionally, patients with physical and/or intellectual disabilities presented greater oral pathology, owing to their condition and to other external factors. …”
Publicado 2016
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1745por Lam, Wayne W.K., Millichap, John J., Soares, Dinesh C., Chin, Richard, McLellan, Ailsa, FitzPatrick, David R., Elmslie, Frances, Lees, Melissa M., Schaefer, G. Bradley, Abbott, Catherine M.“…RESULTS: All the mutations cause epilepsy and intellectual disability, but with a much wider range of severity than previously identified. …”
Publicado 2016
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1746“…The aim of this study was to evaluate the effect of prenatal and postnatal malnutrition on the intellectual functioning of early school-aged children. …”
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1747“…The current study investigated structural brain differences of individuals with mutations in ZDHHC9, which is associated with a specific neurodevelopmental phenotype including prominent speech and language impairments and intellectual disability. We used multiple structural neuroimaging methods to characterise neuroanatomy in this group, and observed bilateral reductions in cortical thickness in areas surrounding the temporo-parietal junction, parietal lobule, and inferior frontal lobe, and decreased microstructural integrity of cortical, subcortical-cortical, and interhemispheric white matter projections. …”
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1748“…BACKGROUND: People with intellectual disabilities (ID) are known to have more diseases and are believed to start aging earlier than the general population. …”
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1749por Morrissey, Catrin, Langdon, Peter E., Geach, Nicole, Chester, Verity, Ferriter, Michael, Lindsay, William R., McCarthy, Jane, Devapriam, John, Walker, Dawn-Marie, Duggan, Conor, Alexander, Regi“…BACKGROUND: There is limited empirical information on service-level outcome domains and indicators for the large number of people with intellectual disabilities being treated in forensic psychiatric hospitals. …”
Publicado 2017
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1750“…OBJECTIVES: To investigate mortality and its causes in adults over the age of 20 years with intellectual disability (ID). DESIGN, SETTING AND PARTICIPANTS: Retrospective population-based standardised mortality of the ID and Comparison cohorts. …”
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1751por Morè, Lorenzo, Künnecke, Basil, Yekhlef, Latefa, Bruns, Andreas, Marte, Antonella, Fedele, Ernesto, Bianchi, Veronica, Taverna, Stefano, Gatti, Silvia, D'Adamo, Patrizia“…RAB-GDP dissociation inhibitor 1 (GDI1) loss-of-function mutations are responsible for a form of non-specific X-linked Intellectual Disability (XLID) where the only clinical feature is cognitive impairment. …”
Publicado 2017
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1752“…Patients with severe motor and intellectual disabilities often have carnitine deficiency. …”
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1753“…In principle, intellectual property protections (IPPs) promote and protect important but costly investment in research and development. …”
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1754por Maeda, Shigeru, Honda, Yuka, Tanimura, Hiroshi, Tomoyasu, Yumiko, Higuchi, Hitoshi, Murata, Naomichi, Egusa, Masahiko, Miyawaki, Takuya“…BACKGROUND: The extraction of lower wisdom teeth is often performed under general anesthesia in patients with intellectual disabilities. However, the choice of analgesics has not yet been investigated. …”
Publicado 2017
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1756por Tsurusaki, Yoshinori, Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Mitsui, Jun, Aida, Noriko, Kurosawa, Kenji“…X-linked intellectual disability (ID) type Nascimento (MIM #300860), also known as ubiquitin-conjugating enzyme E2 A (UBE2A) deficiency syndrome, is a congenital malformation syndrome characterized by moderate to severe ID, speech impairment, dysmorphic facial features, genital anomalies and skin abnormalities. …”
Publicado 2017
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1757por Braun, C. M. J., Montour-Proulx, I., Daigneault, S., Rouleau, I., Kuehn, S., Piskopos, M., Desmarais, G., Lussier, F., Rainville, C.Enlace del recurso
Publicado 2002
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1758“…The study participants comprised of 10 people with intellectual disabilities who were residing in a residential care facility. …”
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1759“…Over the last three decades, quality of life (QoL) has been advocated as an indicator of social care outcomes for adults with intellectual disabilities. In England, the Adult Social Care Survey (ASCS) is conducted annually by local authorities to contribute to the evidence base of the care‐related QoL of people receiving publicly funded adult social care. …”
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1760“…OBJECTIVE: To evaluate the immediate effects of deep pressure on young people with autism and severe intellectual disabilities. METHODS: Mood and behaviour were rated for 13 pupils with ASD and severe ID before and after deep pressure sessions. …”
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