Search results for "Intellect"
showing 10 items of 642 documents
Clinicopathological conference: an adolescent girl with severe mental impairment and mucopolysacchariduria.
1985
Benign nocturnal alternating hemiplegia of childhood: a new case with unusual findings
2014
Abstract It has been described a neuro developmental disorder labelled “Benign nocturnal alternating hemiplegia of childhood” (BNAHC) characterized by recurrent attacks of nocturnal hemiplegia without progression to neurological or intellectual impairment. We report a female patient who at 11 months revealed a motionless left arm, unusual crying without impairment of consciousness and obvious precipitating factors. The attacks occur during sleep in the early morning with lack of ictal and interictal electroencephalographic abnormalities, progressive neurological deficit, and cognitive impairment. Unlike previous reports of BNAHC our patient come from a family with a history of both migraine…
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.
2021
KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder, typically characterized by macrodontia of the upper central incisors, distinct craniofacial findings, short stature, and skeletal anomalies associated with neurological involvement including intellectual disability, behaviour difficulties, and epilepsy. KBG syndrome is associated with mutations in ANKRD11 gene that plays a chromatin regulator role of histone acetylation and gene expression during neurogenesis in the embryonic brain.
PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
2021
Background and ObjectivesPurine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. The aim of this study was to define and expand the phenotypic spectrum of PURA syndrome by collecting data, including EEG, from a large cohort of affected patients.MethodsData on unpublished and published cases were collected through the PURA Syndrome Foundation and the literature. Data on clinical, genetic, neuroimaging, and neurophysiologic features were obtained.ResultsA cohort of 142 patients was include…
First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder
2019
Systemic primary carnitine deficiency (PCD) is a genetic disorder caused by decreased or absent organic cation transporter type 2 (OCTN2) carnitine transporter activity, resulting in low serum carnitine levels and decreased carnitine accumulation inside cells. In early life, PCD is usually diagnosed as a metabolic decompensation, presenting as hypoketotic hypoglycemia, Reye syndrome, or sudden infant death; in childhood, PCD presents with skeletal or cardiac myopathy. However, the clinical presentation of PCD characterized by autism spectrum disorder (ASD) with intellectual disability (ID) has seldom been reported in the literature. In this report, we describe the clinical features of a sev…
Ancient Theories of Intellection
2013
Ancient philosophical schools shared the view that, in addition to perceptual capacities, human beings have reason. It was also generally supposed that reason is not to be understood solely as a capacity of inference, but that it must also have content (1). Such content was often taken to be general: as opposed to perception which deals with particulars, reasoning operates with general or universal features of reality. However, views diverged as to how or whether such contents are acquired and whether they rather pre-exist in the soul. Whereas the view according to which intelligible forms can be grasped by human reason was wide-spread in the Platonic-Aristotelian tradition, Hellenistic phi…
Periodontal disorders in a cohort of patients with Cohen syndrome
2020
AIMS Cohen syndrome (CS) is an uncommon autosomal recessive disorder due to mutations in vacuolar protein sorting 13B, with an intermittent presence of neutropenia. Contrary to other clinical phenotypic features, oral health has been little investigated in CS. We described oral health and dental hygiene in a cohort of CS patients. METHODS AND RESULTS Twelve CS patients with neutropenia (<1500/mm3 ) were recruited in the dental department of Dijon University Hospital (France). Patients underwent oral examination, and blood samples were collected. Oral health markers were described and compared between patients with moderate and severe neutropenia (<500/mm3 ). In 12 patients (mean age = 21.1 …
Libraries and Intellectual Debate in the Late Republic: the Case of the Aristotelian Corpus
2013
The present chapter explores the catalyzing function of libraries in the intellectual debate of the late Roman Republic, by focusing on the significant case of the Aristotelian esoteric corpus. A careful analysis of the literary and historical evidence concerning the use of Peripatetic texts allows to detect the presence of at least two important libraries containing Aristotle's 'pragmatiai' in Roman Italy: Lucullus' collection in Tusculum and Sulla's one in Cumae. Several Greek and Latin sources bear witness to the vicissitudes of such libraries, and the present paper reassesses their accounts in order to point out the close connection between intellectual patterns and material culture - i…
Subjectivity as a Non-Textual Standard of Interpretation in the History of Philosophical Psychology
2008
Contemporary caution against anachronism in intellectual history, and the currently mo mentous theoretical emphasis on subjectivity in the philosophy of mind, are two prevailing conditions that set puzzling constraints for studies in the history of philosophical psychol ogy. The former urges against assuming ideas, motives, and concepts that are alien to the historical intellectual setting under study, and combined with the latter suggests caution in relying on our intuitions regarding subjectivity due to the historically contingent charac terizations it has attained in contemporary philosophy of mind. In the face of these condi tions, our paper raises a question of what we call non-textual…