“…Important variables including demographics (age, sex, education, and socioeconomic status), physical and psychiatric comorbidities (cardiovascular risks, ophthalmological conditions, hearing impairment, poor mobility, and depression), and lifestyle behaviors (smoking, diet, physical, intellectual, and social activities) were also assessed. …”
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“…BACKGROUND: Wolf-Hirschhorn Syndrome (WHS) is a rare, congenital disease characterized by a distinctive facial phenotype, seizures, intellectual disability and developmental delay, and pre and postnatal growth requiring lifelong care. …”
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“…Principle manifestations include alterations of the frontal lobe function, which is more prominent in patients with an early onset, such as in congenital and childhood onset forms, here associated with severe intellectual disabilities, speech and language delay and reduced IQ-values, while in adult onset DM1 cognitive and neuropsychological findings are usually not so severe. …”
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“…The q11.2 region on chromosome 22 contains numerous low-copy repeats that lead to deleted or duplicated regions in the chromosome, thereby resulting in different syndromes characterized by intellectual disabilities or congenital anomalies. The association between patient phenotypes and 22q11.2 copy number abnormalities has been previously described in postnatal cases; however, these features have not been systematically evaluated in prenatal cases because of limitations in phenotypic identification in prenatal testing. …”
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“…We will exclude hypothetical research designs and studies focused on the consequences of labelling cancer conditions, intellectual disabilities and/or social attributes. We will conduct thematic analyses for qualitative data and descriptive or meta-analyses for quantitative data where appropriate. …”
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“…One third (74/213) of the children screened positive for ASD and half of the children (106/213) for ADHD, which was about twice as often as ASD/ADHD diagnoses had been clinically identified. Children with intellectual disability, epilepsy and/or impaired speech ability more often screened positive for ASD as well as ADHD. …”
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“…Human pathogenic variants of TBC1D24 are associated with clinically heterogeneous phenotypes, including recessive nonsyndromic deafness DFNB86, dominant nonsyndromic deafness DFNA65, seizure accompanied by deafness, a variety of isolated seizure phenotypes and DOORS syndrome, characterized by deafness, onychodystrophy, osteodystrophy, intellectual disability and seizures. Thirty-five pathogenic variants of human TBC1D24 associated with deafness have been reported. …”
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“…Fragile X syndrome (FXS) is characteristically displayed intellectual disability, hyperactivity, anxiety, and abnormal sensory processing. …”
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“…Recently, mutations in nonsense-mediated mRNA decay genes have been associated with ASDs, intellectual disability (ID), and SZ. Here, we examine the function of a gene in the exon junction complex, Rbm8a, in the cortical development. …”
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“…OBJECTIVE: Our objective is to create a source of synthetic electronic health records that is readily available; suited to industrial, innovation, research, and educational uses; and free of legal, privacy, security, and intellectual property restrictions. MATERIALS AND METHODS: We developed Synthea, an open-source software package that simulates the lifespans of synthetic patients, modeling the 10 most frequent reasons for primary care encounters and the 10 chronic conditions with the highest morbidity in the United States. …”
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“…Although they presented with moderate to severe intellectual disability, the phenotype did not match the clinical criteria for AS. …”
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“…Primary microcephaly (MCPH) is characterized by reduced brain size and intellectual disability. The exact pathophysiological mechanism underlying MCPH remains to be elucidated, but dysfunction of neuronal progenitors in the developing neocortex plays a major role. …”
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“…However, digital data property is already a reality, governed by ‘terms of use’, and protected by the intellectual property rights regime. The current pandemic has led to ‘emergency pedagogy’, which has intensified overall digitalisation in the sector and is bypassing concerns of data value redistribution. …”
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“…Advances in gene discovery have identified genetic variants in the solute carrier family 6 member 1 gene as a monogenic cause of neurodevelopmental disorders, including epilepsy with myoclonic atonic seizures, autism spectrum disorder and intellectual disability. The solute carrier family 6 member 1 gene encodes for the GABA transporter protein type 1, which is responsible for the reuptake of the neurotransmitter GABA, the primary inhibitory neurotransmitter in the central nervous system, from the extracellular space. …”
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“…This problem is inherent in any human-based intellectual activity. To address this problem, making scientific publications semantically clear (i.e. computable) by the authors at the time of publication is a critical step if we are to avoid postpublication curation. …”
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“…Of the 3321 responses received, 55.6% of patients were seizure-free for at least 1 year before the COVID-19-related lockdown, 74.4% used anti-seizure medications (ASMs), and 59.7% had intellectual disability. Only 10 patients (0.4%) became infected with Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). …”
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“…Sjögren‐Larsson syndrome (SLS) is a rare neurometabolic syndrome caused by deficient fatty aldehyde dehydrogenase. Patients exhibit intellectual disability, spastic paraplegia, and ichthyosis. …”
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“…Children with possible or established autism or intellectual disability were excluded. Standardized instruments measuring language, communication and mental health symptoms were distributed to parents and teachers, an intelligence test administered for clinical purposes, and demographic information was included. …”
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“…In this study, we analyzed some developmental effects of its realization in Grade 1 (N = 46, two classes), in relation to the children’s school readiness level (specifically, their motivation, voluntary regulation, and intellectual development), and their teacher’s experience (a very experienced teacher in one class, and a less experienced one in the other). …”
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“…Pituitary stalk interruption syndrome is characterized by a complex genetic heterogeneity, that reflects a complex phenotypic heterogeneity. Seizures, intellectual disability, micropenis or cryptorchidism, seen at presentation are usually considered as secondary to the pituitary deficiencies. …”
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