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Abstract : Somatic Mosaicism as Modulator of the Global and Intellectual Phenotype in Epimutated Angelman Syndrome Patients
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Abstract: Angelman Syndrome (AS) is due to the loss of function of the single UBE3A gene, mapping to chromosome 15q11-q13 and encoding the E6AP ubiquitin ligase. Expression of UBE3A is subject to genomic imprinting which is restricted to the brain, where only the maternal allele is transcribed. AS pathogenetic mechanisms include deletion of the maternal 15q11-13 chromosomal region, chromosome 15 paternal uniparental disomy (UPD), Imprinting Defects (ImpD) leading to silencing of the maternal allele and intragenic mutations of the maternal UBE3A allele. From our AS cohort we sorted out for detailed clinical-molecular characterization six mosaic cases, five with ImpD epimutations and one with patUPD15. This latter case referred for intellectual disability and fortuitously solved by SNP array, is, to our knowledge, the unique patient reported with mosaic patUPD of this imprinted region. Somatic epimutation mosaicism represents a challenge for both clinical and molecular diagnostics. The described patients, referred to our center either for uncertain AS or simply for intellectual disability, could be molecularly characterized by applying a multi-method approach including Methylation-Sensitive PCR and MS-MLPA without a strict cut off. The percentage of normal cells detected ranged up to 40%. We confirm the mild phenotype reported in mosaic AS ImpD and provide a detailed analysis of IQ. Mild mental retardation, with significant difficulties in language expression, but only mildly impaired performance skills, together with pathognomonic EEG, is a cue not to overlook in mosaic AS patients. Mosaic epimutations should be searched also in patients with minor AS features and presenting only with intellectual disability Keywords: Mosaicism, intellectual disability, Angelman syndrome, epimutation, uniparental disomy. |
Abstract : The Assessment of Psychiatric Disorders in Intellectual Disability: The State of the Art
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Abstract: Intellectual Disability (ID) represents a meta-syndromic group of several different conditions, each one with specific cognitive and communication features. This constitutes one the main reason for which the diagnosis of psychiatric disorders in adults with ID is challenging. The aim of this paper is to provide a comprehensive and updated state of art on the assessment of psychiatric disorders in people with ID. In order to accomplish this goal, authors performed a systematic literature mapping trying to answer to the following questions: what are the issues in the psychiatric diagnostic process for adults with ID? What methods and procedures have been used for psychiatric assessment in ID? To date, is it possible to identify the most effective diagnostic procedures? Results indicated that the main critical issues in the psychiatric diagnostic process were the following: the identification of psychiatric symptoms, the behavioural equivalents, the diagnostic criteria, the setting, the source of information, the screening and diagnostic instruments. An increasing interest in screening instruments for providing appropriate diagnosis for people with ID has been noted in the recent years. For this reason, available assessment tools have been briefly indicated, with their strengths and weaknesses. Although the recent advances, more research is needed in order to increase diagnostic accuracy in this heterogeneous group of patients. Keywords: Intellectual disability, psychiatric disorders, psychopathology, assessment, diagnosis, tools.Download Full Article |
Abstract : Language and Communicative Functions as well as Verbal Fluency in Children with High-Functioning Autism
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Abstract: The study was designed to investigate selected aspects of language and communicative functions as well as verbal fluency in children with HFA. The study group comprised 51 children, aged 10-12, including 23 subjects diagnosed with High-Functioning Autism, with normal IQ and able to communicate verbally, as well as a group of 28 controls. The applied tools included RHLB-PL Battery, a verbal fluency task and WISC-R Vocabulary subtest. The findings show significantly varied profiles of the investigated functions in the group of children with HFA. In comparison with their peers, they have greater difficulties drawing logical conclusions from stories. They find it difficult to grasp humour conveyed by linguistic expression and by metaphors, presented with the use of both linguistic materials and drawings. They have lower capacitates for understanding prosodic (emotional and language) aspects of utterances addressed to them. It has been established that they are able to correctly understand isolated words and recognize their designates despite the present distractors. No generalized deficits have been found in the subjects’ verbal fluency. In comparison to the controls, the children with HFA generated similar number of words matching the phonemic criterion. Furthermore, their performance showed no perseverations, and comparably frequent clustering and switching. Lexicon matching the semantic criterion was more difficult to access for the children with HFA than for the controls. Children with HFA had difficulties in defining familiar words. Keywords: Humour, prosody, metaphors, defining words, inferential language.Download Full Article |
Abstract : Editorial
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Editorial |
