“…Fragile X syndrome (FXS) is caused by silencing of the human FMR1 gene and is the leading monogenic cause of intellectual disability and autism. Abundant preclinical data indicated that negative allosteric modulators (NAMs) of metabotropic glutamate receptor 5 (mGluR5) might be efficacious in treating FXS in humans. …”
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“…These are often accompanied by intellectual disabilities. At present, there is no designated effective treatment for the core symptoms and co-morbidities of ASD. …”
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“…All patients showed symptoms of verbal development delay and intellectual disability to different degrees, and 90% patients had long eyelashes while 89% patients had arched eyebrows. …”
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“…Sturge–Weber syndrome (SWS) is a neurocutaneous disorder characterized by vascular malformations affecting skin, eyes and leptomeninges of the brain, which can lead to glaucoma, seizures and intellectual disability. The discovery of a disease-causing somatic missense mutation in the GNAQ gene, encoding an alpha chain of heterotrimeric G-proteins, has initiated efforts to understand how G-proteins contribute to SWS pathogenesis. …”
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“…Angelman syndrome (AS) is a rare genetic neurodevelopmental disorder characterized by intellectual disabilities, motor and balance deficits, impaired communication, and a happy, excitable demeanor with frequent laughter. …”
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“…In this context, the CDKL5 deficiency disorder (CDD) is a neurodevelopmental condition characterized by early-onset seizures, intellectual delay, and motor dysfunction. Although crucial for proper brain development, the precise targets of CDKL5 and its relation to patients’ symptoms are still unknown. …”
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“…No association was found between sleep-related problems (snoring, sleep-study-confirmed OSA or non-respiratory sleep problem) and parent-reported behavioural problems, functional impairments or intellectual performance. This may reflect limitations of the measures used in this study, that in this population ongoing problems with daytime function are not sleep related or that a cross-sectional assessment does not adequately take into account the impacts of past disease/treatments. …”
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“…BACKGROUND: As a result of the COVID-19 global pandemic, many intellectual property (IP) owners have signed on to the “Open COVID Pledge”, an agreement that makes corporate and university IP available free of charge for the purpose of facilitating the development of technologies that will end the pandemic and minimize the impact of disease. …”
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“…Fragile X syndrome (FXS) is the most common single-gene cause of intellectual disability and autism spectrum disorder. …”
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“…This paper reviews the patent development trends of important coronavirus technologies, and proposes that policymakers should establish a long-term mechanism for R&D, pay attention to intellectual property protection, and deepen international technical cooperation to provide a reference for the development and application of coronavirus detection technology, vaccine technology, and treatment technology.…”
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“…Dark skin, a buried penis, small testes, dental caries, microcephaly, a low auricle, mental and intellectual retardation, balance disorder and pituitary and callosum dysplasia were observed. …”
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“…Alport syndrome with intellectual disability (ATS-ID, AMME complex; OMIM #300194) is an X-linked contiguous gene deletion syndrome associated with an Xq22.3 locus mainly characterized by hematuria, renal failure, hearing loss/deafness, neurodevelopmental disorder (NDD), midface retrusion, and elliptocytosis. …”
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“…Background: Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by hormonal dysregulation, obesity, intellectual disability, and behavioral problems. Most PWS cases are caused by paternal interstitial deletions of 15q11.2-q13.1, while a smaller number of cases are caused by chromosome 15 maternal uniparental disomy (PW-UPD). …”
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“…Knockdown of Ash1L in PFC of juvenile mice induces the downregulation of risk genes associated with ASD, intellectual disability (ID) and epilepsy. These downregulated genes are enriched in excitatory and inhibitory synaptic function and have decreased H3K4me3 occupancy at their promoters. …”
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“…Although BPAN patients display global developmental delay with intellectual disability, the neurodevelopmental pathophysiology of BPAN remains largely unknown. …”
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“…Due to the lack of scientific articles in this research area, the objective of this study was to search for applications of microalgae and to characterize its use in agriculture using the patent documents available in three patent databases, World Intellectual Property Organization (WIPO), European Patent Office (EPO) and Brazilian Institute of Industrial Property (INPI). …”
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“…METHODS: The feasibility of technology‐based home monitoring was investigated in an observational study of 40 children with refractory epilepsy or epilepsy associated with intellectual disability and/or behavior difficulties in South Africa. …”
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“…Background: Parents of children with intellectual and neurodevelopmental disorders (IDD) often experience traumatic events in the care of their children. …”
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“…A proactive approach to intellectual activities and social ties may be important for the prevention of cognitive decline during periods of restrictions due to COVID-19. …”
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“…SRD5A3-CDG is also characterized by variable neurological symptoms including intellectual disability, ataxia, and hypotonia. Furthermore, ichthyosiform skin lesions, joint laxity, and scoliosis have been observed in our cohort. …”
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