FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4308773100> ?p ?o ?g. }

• W4308773100 endingPage "1719" @default.
• W4308773100 startingPage "1719" @default.
• W4308773100 abstract "Background: Sex chromosome aneuploidies (SCAs) are a group of disorders characterised by an abnormal number of sex chromosomes. Collective prevalence rate of SCAs is estimated to be around 1 in 400-500 live births; sex chromosome trisomies (e.g., XXX, XXY, XYY) are most frequent, while tetra- and pentasomies (e.g., XXXX, XXXXX, XXXY, XXXXY) are rarer, and the most common is 48, XXYY syndrome. The presence of additional X and/or Y chromosomes is believed to cause neurodevelopmental differences, with increased risk for developmental delays, language-based learning disabilities, cognitive impairments, executive dysfunction, and behavioural and psychological disorders. Aim of the Study: Our review has the purpose of analysing the neurocognitive, linguistical and behavioural profile of patients affected by sex chromosomes supernumerary aneuploidies (tetrasomy and pentasomy) to better understand the specific areas of weakness, in order to provide specific rehabilitation therapy. Methods: The literature search was performed by two authors independently. We used MEDLINE, PubMed, and PsycINFO search engines to identify sources of interest, without year or language restrictions. At the end of an accurate selection, 16 articles fulfilled the inclusion and exclusion criteria. Results and Conclusions: International literature has described single aspects of the neuropsychological profile of 48, XXYY and 49, XXXXY patients. In 48, XXYY patients, various degrees of psychosocial/executive functioning issues have been reported and there is an increased frequency of behavioural problems in childhood. Developmental delay and behavioural problems are the most common presenting problems, even if anxiety, depression and oppositional defiant disorder are also reported. They also show generalized difficulties with socialization and communication. Cognitive abilities are lower in measures of verbal IQ than in measures of performance IQ. Visuospatial skills are a relative strength compared to verbal skills. In patients with 49, XXXXY, both intellectual and adaptive functioning skills fall into the disability range, with better non-verbal cognitive performance. Speech and language testing reveals more deficits in expressive language than receptive language and comprehension. Anxiety, thought problems, internalizing and externalizing problems, and deficits in social cognition and communication are reported. Behavioural symptoms lessen from school age to adolescence, with the exception of thought problems and anxiety. Individuals affected by sex chromosome aneuploidies show testosterone deficiency, microorchidism, lack of pubertal progression and infertility. Hormone replacement therapy (HRT) is usually recommended for these patients: different studies have found that testosterone-based HRT benefit a wide range of areas initiated in these disorders, affecting not only neuromotor, cognitive and behavioural profile but also structural anomalies of the brain (i.e., increase of volume of grey temporal lobe matter). In conclusion, further studies are needed to better understand the neuropsychological profile with a complete evaluation, including neurocognitive and psychosocial aspects and to establish the real impact of HRT on improving the cognitive and behavioural profile of these patients." @default.
• W4308773100 created "2022-11-15" @default.
• W4308773100 creator A5022286237 @default.
• W4308773100 creator A5023303848 @default.
• W4308773100 creator A5032449695 @default.
• W4308773100 creator A5055767042 @default.
• W4308773100 creator A5057256929 @default.
• W4308773100 creator A5072096811 @default.
• W4308773100 creator A5078040487 @default.
• W4308773100 creator A5081053981 @default.
• W4308773100 creator A5088005455 @default.
• W4308773100 creator A5089776591 @default.
• W4308773100 date "2022-11-09" @default.
• W4308773100 modified "2023-09-27" @default.
• W4308773100 title "Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review" @default.
• W4308773100 cites W109016782 @default.
• W4308773100 cites W1502307568 @default.
• W4308773100 cites W1965673334 @default.
• W4308773100 cites W1967913247 @default.
• W4308773100 cites W1970186645 @default.
• W4308773100 cites W1984639603 @default.
• W4308773100 cites W1991059680 @default.
• W4308773100 cites W2011878500 @default.
• W4308773100 cites W2015495766 @default.
• W4308773100 cites W2015727464 @default.
• W4308773100 cites W2038640136 @default.
• W4308773100 cites W2049674419 @default.
• W4308773100 cites W2052000011 @default.
• W4308773100 cites W2060533494 @default.
• W4308773100 cites W2075779591 @default.
• W4308773100 cites W2091782967 @default.
• W4308773100 cites W2094416129 @default.
• W4308773100 cites W2097170562 @default.
• W4308773100 cites W2098170336 @default.
• W4308773100 cites W2100673635 @default.
• W4308773100 cites W2101875313 @default.
• W4308773100 cites W2103941891 @default.
• W4308773100 cites W2103962157 @default.
• W4308773100 cites W2115579017 @default.
• W4308773100 cites W2127868901 @default.
• W4308773100 cites W2129754735 @default.
• W4308773100 cites W2153311132 @default.
• W4308773100 cites W2197032786 @default.
• W4308773100 cites W2337886476 @default.
• W4308773100 cites W2406169476 @default.
• W4308773100 cites W2541449400 @default.
• W4308773100 cites W2549407161 @default.
• W4308773100 cites W2602496417 @default.
• W4308773100 cites W2784097435 @default.
• W4308773100 cites W2785069003 @default.
• W4308773100 cites W2884241607 @default.
• W4308773100 cites W2886510698 @default.
• W4308773100 cites W2886984397 @default.
• W4308773100 cites W2899385333 @default.
• W4308773100 cites W2936905296 @default.
• W4308773100 cites W3007349943 @default.
• W4308773100 cites W3028438680 @default.
• W4308773100 cites W3033407925 @default.
• W4308773100 cites W3042227087 @default.
• W4308773100 cites W3042578056 @default.
• W4308773100 cites W3045589541 @default.
• W4308773100 cites W3093767539 @default.
• W4308773100 cites W3176759798 @default.
• W4308773100 cites W4200362677 @default.
• W4308773100 cites W4221036259 @default.
• W4308773100 cites W87434069 @default.
• W4308773100 cites W2240997721 @default.
• W4308773100 doi "https://doi.org/10.3390/children9111719" @default.
• W4308773100 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36360447" @default.
• W4308773100 hasPublicationYear "2022" @default.
• W4308773100 type Work @default.
• W4308773100 citedByCount "2" @default.
• W4308773100 countsByYear W43087731002023 @default.
• W4308773100 crossrefType "journal-article" @default.
• W4308773100 hasAuthorship W4308773100A5022286237 @default.
• W4308773100 hasAuthorship W4308773100A5023303848 @default.
• W4308773100 hasAuthorship W4308773100A5032449695 @default.
• W4308773100 hasAuthorship W4308773100A5055767042 @default.
• W4308773100 hasAuthorship W4308773100A5057256929 @default.
• W4308773100 hasAuthorship W4308773100A5072096811 @default.
• W4308773100 hasAuthorship W4308773100A5078040487 @default.
• W4308773100 hasAuthorship W4308773100A5081053981 @default.
• W4308773100 hasAuthorship W4308773100A5088005455 @default.
• W4308773100 hasAuthorship W4308773100A5089776591 @default.
• W4308773100 hasBestOaLocation W43087731001 @default.
• W4308773100 hasConcept C118552586 @default.
• W4308773100 hasConcept C14216870 @default.
• W4308773100 hasConcept C150966472 @default.
• W4308773100 hasConcept C15744967 @default.
• W4308773100 hasConcept C169900460 @default.
• W4308773100 hasConcept C172467417 @default.
• W4308773100 hasConcept C187212893 @default.
• W4308773100 hasConcept C70410870 @default.
• W4308773100 hasConcept C71924100 @default.
• W4308773100 hasConceptScore W4308773100C118552586 @default.
• W4308773100 hasConceptScore W4308773100C14216870 @default.
• W4308773100 hasConceptScore W4308773100C150966472 @default.
• W4308773100 hasConceptScore W4308773100C15744967 @default.

• next