“…METHODS: Using retrospective clinical data from 100,960 children (0–18 years), hearing status was determined for a total of 226,580 encounters from three clinical sites. 9% of the children had a diagnosis of intellectual disability, autism spectrum disorder, Down syndrome, or cerebral palsy. …”
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“…Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are detected in 1–2% of patients with autism and intellectual disability, but the mechanisms underpinning the symptoms remain largely unknown. …”
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“…The dimensions of critical thinking disposition with the highest and lowest means were related to innovation and intellectual maturity, respectively. Reflective capacity and its dimensions were found to have a direct and statistically significant relationship with critical thinking disposition and its dimensions. …”
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“…In multivariable regression models, psychiatric HCU was associated with anxiety disorders, prior psychiatric contact, placement in a foster home, psychopathic traits, low intellectual functioning, and persistent offending. CONCLUSIONS: Violent offenders are burdened by extensive and serious psychiatric morbidity and typically interact with psychiatric healthcare as inpatients rather than outpatients. …”
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“…The latter is caused by biallelic loss-of-function variants in the P4HTM gene and encompasses hypotonia, intellectual disabilities, eye abnormalities, hypoventilation, and dysautonomia. …”
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“…We have identified two distinct factors: intellectual medical curiosity (IMC) and social medical curiosity (SMC). …”
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“…Autism spectrum disorder (ASD) includes a set of highly heritable neurodevelopmental syndromes characterized by social and communication impairment, repetitive behaviour, and intellectual disability. Although mutations in multiple genes have been associated to ASD, most patients lack detectable genetic alterations. …”
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“…Fragile X Syndrome (FXS) is the best-known form of inherited intellectual disability caused by the loss-of-function mutation in a single gene. …”
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“…BACKGROUND: Children born to migrant parents have higher rates of language difficulties, intellectual disability and autism. This study explores the relationship between migration, ethnicity and reasons for early years referrals to community paediatrics in a diverse multi‐cultural population in a city in south west England. …”
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“…All patients (8/8, 100%) had some degree of craniofacial dysmorphism and developmental delay or intellectual disabilities. Triangular face, synophrys, anteverted nostril, prominent ears, long philtrum, and tented upper lip, which are typical facial dysmorphism findings in patients with KBG syndrome, were uniformly identified in the eight patients participating in this study, with co‐occurrence rates of 4/8 (50%), 4/8 (50%), 4/8 (50%), 4/8 (50%), 5/8 (62.5%), and 5/8 (62.5%), respectively. …”
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“…Creatine transporter deficiency (CTD), a leading cause of intellectual disability is a result of the mutation in the gene encoding the creatine transporter SLC6A8, which prevents creatine uptake into the brain, causing mental retardation, expressive speech and language delay, autistic-like behavior and epilepsy. …”
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“…BACKGROUND: 3q29 deletion syndrome (3q29del) is associated with a significantly increased risk for neurodevelopmental and neuropsychiatric phenotypes. Mild to moderate intellectual disability (ID) is common in this population, and previous work by our team identified substantial deficits in adaptive behavior. …”
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“…Although these challenges are deemed minor compared with cerebral palsy and intellectual disability, their impacts on a child’s self-determination and family’s well-being are quite significant. …”
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“…All patients with the KIF11 variant showed signs of microcephaly and intellectual disability. The patient with Norrie syndrome and their family members were found to have a deletion of exon 2 in the NDP gene. …”
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“…The promoting factors are ARRM key features, qualitative operational advantages, quantitative operational advantages, value proposition, value creation network, finance, image, adoption management, resource allocation, strategic realignment, skills gap, and governmental regulation; further, augmented reality user experience, data connection, information provision, intellectual property protection, and remote service acceptance were identified as inhibiting factors. …”
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“…Pathogenic variants in ANKRD11 or microdeletions at 16q24.3 are the cause of KBG syndrome (KBGS), a neurodevelopmental syndrome characterized by intellectual disability, dental and skeletal anomalies, and characteristic facies. …”
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“…Females with ASD are more likely to have comorbid intellectual impairment than males, and they could require additional intervention support. …”
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“…BACKGROUND AND OBJECTIVES: Heterozygous mutations or deletions of the EBF3 gene are known to cause a syndrome characterized by intellectual disability, neurodevelopmental disorders, facial dysmorphisms, hypotonia, and ataxia; the latter is quite common despite in most patients brain MRI is reported to be normal. …”
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“…Despite normal structural neuroimaging, psychiatric manifestations and intellectual disability are part of the SCA27 phenotype raising the need for functional neuroimaging. …”
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“…None of the patients was reported to have an intellectual disability (0/28). The majority of patients (26/30) showed clinical symptoms, and laboratory results improved after oral mannose administration. …”
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