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11001“…In the age span 20–64 years, 17.5% had competitive employment and 45.2% attended activity centres for people with intellectual disabilities. In the younger age group up to 24 years old, 36.9% went to mainstream/higher education and 20.5% went to special schools. …”
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11002“…Conclusion: Short stature, delayed skeletal maturation, impaired language expression, intellectual deficits, and peculiar facial features are the main clinical features of FHS. rhGH can be used as a treatment to increase height in patients with FHS, but its effectiveness and safety still need to be monitored in larger sample sizes over longer periods of time.…”
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11003por Mohamed, Amal M., Kamel, Alaa K., Eid, Maha M., Eid, Ola M., Mekkawy, Mona, Hussein, Shymaa H., Zaki, Maha S., Esmail, Samira, Afifi, Hanan H., El‐Kamah, Ghada Y., Otaify, Ghada A., El‐Awady, Heba Ahmed, Elaidy, Aya, Essa, Mahmoud Y., El‐Ruby, Mona, Ashaat, Engy A., Hammad, Saida A., Mazen, Inas, Abdel‐Salam, Ghada M. H., Aglan, Mona, Temtamy, Samia“…METHODS: We investigated a cohort of nine patients with chromosome 9p terminal deletions who all displayed developmental delay, intellectual disability, hypotonia, and dysmorphic features. …”
Publicado 2021
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11004por Vogt, Guido, El Choubassi, Naji, Herczegfalvi, Ágnes, Kölbel, Heike, Lekaj, Anja, Schara, Ulrike, Holtgrewe, Manuel, Krause, Sabine, Horvath, Rita, Schuelke, Markus, Hübner, Christoph, Mundlos, Stefan, Roos, Andreas, Lochmüller, Hanns, Karcagi, Veronika, Kornak, Uwe, Fischer‐Zirnsak, Björn“…While for one no information was available, two died in infancy and three are now adolescents with mild or absent intellectual disability. Muscular weakness, ptosis, contractures, and elevated muscle enzymes indicated a persistent myopathy. …”
Publicado 2021
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11005por Holden, Rachel, Mueller, Joanne, McGowan, John, Sanyal, Jyoti, Kikoler, Maxim, Simonoff, Emily, Velupillai, Sumithra, Downs, Johnny“…In addition, female gender, psychosis, affective disorder diagnoses, and higher intellectual ability were all associated with suicidality at follow‐up. …”
Publicado 2020
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11006“…ASD, a complex dynamic biological-neurodevelopmental disorder, is underscored by its heterogeneous symptomology, severity, and phenotypes – all characterized by social communication deficits and presence of restricted interests and repetitive behaviours (RRBs), the core symptoms in ASD. Language and intellectual capacities do not form ASD core symptoms although vary considerably. …”
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11007por Warin, Thierry“…To analyze these data, we first employed a theoretical framework to group the findings into three categories: conceptual, intellectual, and social. Second, we mapped the results of our analysis in these three dimensions using machine learning techniques (ie, natural language processing) and social network analysis. …”
Publicado 2021
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11008por Zhang, Huiting, Yang, Liu, Duan, Jing, Zeng, Qi, Chen, Li, Fang, Yu, Hu, Junjie, Cao, Dezhi, Liao, Jianxiang“…All patients had global developmental delay within the first year of life, and intellectual impairment became gradually apparent. Some of them developed behavioral problems. …”
Publicado 2021
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11009por Zhang, Yuanyuan, Liu, Xiaoliang, Gao, Haiming, Cui, Wanting, Zhang, Bijun, Zhao, Yanyan“…In this study, we identified five cases of 15q24 microdeletion using multiplex ligation-dependent probe amplification (MLPA) technology in a cohort of patients with developmental delay and/or intellectual disability. Two of these five cases had deletions that overlapped with the previously defined 1.1 Mb region observed in most reported cases. …”
Publicado 2021
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11010“…MEIS2 deletions/mutations have been associated with cleft lip/palate, dysmorphic facial features, cardiac defects, as well as intellectual disability at a variable severity. Here we report on one familial case that two affected siblings carry the same non-mosaic ~ 423 kb genomic deletion at 15q14 encompassing the entirety of CDIN1 and the last three exons (ex. 10, 11, 12) of the MEIS2 gene, while their unaffected father is mosaic for the same deletion in about 10% lymphocytes. …”
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11011por Nakagawa-Tamagawa, Nao, Kirino, Emi, Sugao, Kohtaroh, Nagata, Hidetaka, Tagawa, Yoshiaki“…Introduction: Gain-of-function mutations in the L-type Ca(2+) channel Cav1.2 cause Timothy syndrome (TS), a multisystem disorder associated with neurologic symptoms, including autism spectrum disorder (ASD), seizures, and intellectual disability. Cav1.2 plays key roles in neural development, and its mutation can affect brain development and connectivity through Ca(2+)-dependent and -independent mechanisms. …”
Publicado 2021
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11012por Antonaros, Francesca, Pitocco, Margherita, Abete, Domenico, Vione, Beatrice, Piovesan, Allison, Vitale, Lorenza, Strippoli, Pierluigi, Caracausi, Maria, Pelleri, Maria Chiara“…Down syndrome (DS) is caused by trisomy of chromosome 21 and it is the most common genetic cause of intellectual disability (ID) in humans. Subjects with DS show a typical phenotype marked by facial dysmorphisms and ID. …”
Publicado 2021
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11013“…These include the limitations of TikTok analytics data for measuring knowledge mobilization, population-specific concerns related to community safety on social media, the spread of disinformation, barriers to internet access, and commercialization and intellectual property issues. This paper concludes that TikTok is an innovative social media platform that presents possibilities for achieving transformative, community-engaged knowledge mobilization among researchers, underserved health care users, and their health care providers, all of whom are necessary to achieve better health care and population health outcomes.…”
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11014por Chen, Zilin, Shi, Kai, Liu, Xin, Dai, Yuan, Liu, Yuqi, Zhang, Lingli, Du, Xiujuan, Zhu, Tailin, Yu, Juehua, Fang, Shuanfeng, Li, Fei“…Methods: A total of 261 age-matched children, including 138 children diagnosed with ASD, 63 with developmental delay or intellectual disability (DD/ID), and 60 typically developing (TD) children, were enrolled from the Shanghai Xinhua Registry. …”
Publicado 2021
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11015por Fazlollahi, Maryam, Ramezani, Monir, Mohsen Asghari Nekah, Seyed, Saki, Azadeh, Jafar Jahangir Feyzabadi, Mohammad“…METHODS: This two-group randomized controlled trial was conducted on 120 children aged 10–11 who were recruited from two centers affiliated to the institute for intellectual development in Mashhad, Iran, by convenience sampling between May 2016 to January 2018. …”
Publicado 2022
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11016por Wilke, Matheus V. M. B, Oliveira, Bibiana M., Pereira, Alessandra, Doriqui, Maria Juliana R., Kok, Fernando, Souza, Carolina F. M.“…Case 2 is a 5-year-old male, Latino patient with craniodigital intellectual disability syndrome subjacent to a de novo, likely pathogenic variant c.94G>T (p.Asp32Tyr). …”
Publicado 2022
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11017por Gutiérrez-Sacristán, Alba, Sáez, Carlos, De Niz, Carlos, Jalali, Niloofar, DeSain, Thomas N, Kumar, Ranjay, Zachariasse, Joany M, Fox, Kathe P, Palmer, Nathan, Kohane, Isaac, Avillach, Paul“…The comorbidities were mostly neurological (eg, epilepsy, odds ratio [OR] > 1.8, 3-18 years of age), congenital (eg, chromosomal anomalies, OR > 2, 3-18 years of age), and mental disorders (eg, intellectual disability, OR > 1.7, 6-18 years of age). …”
Publicado 2021
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11018“…A domestic violence survey of referrals was conducted of 100 referrals to the National Forensic Mental Health Services – Mental Health and Intellectual & Development Disability Services between 2016-2019. …”
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11019“…A significant difference was observed on one item of the Intellectual Accessibility subscale of the ASCI (V2), Complicated–Simple. …”
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11020por Alrubaysh, Mohammed A., Alshehri, Mohammad H., Alsuhaibani, Eyad A., Allowaihiq, Lujain H., Alnasser, Ammar A., Alwazzan, Lulu“…The outcome of this study demonstrated that intellectual stimulation, idealized attributes, and inspirational motivation are perhaps better than contingent reward, active management.…”
Publicado 2022
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