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.
IntroductionNon-suicidal self-injury (NSSI) has been proposed as diagnostic entity and was added in the section 3 of the DSM 5. However, little is known about the long-term course of the disorder: NSSI and suicide attempt (SA) often lie on a continuum of self-harm, but it’s still unclear if they represent two different nosografical entities. Both these groups are commonly enclosed in the term of Deliberate self-harm (DSH), also including self-harm with suicidal intent conditions.ObjectivesThis study aims to explore differences between two clinical samples (NSSI and SA) to highlight the possible connection between these two categories, to better understand the risk of progression from NNSI into suicidal intent conditions.Methods102 inpatients with DSH (62 NNSI; 40 SA; age range: 12 to 18 years) were assessed by self-report questionnaires: the Deliberate Self-Harm Inventory (DSHI) and the Repetitive Non-suicidal Self-Injury Questionnaire (R-NSSI-Q) to explore the severity and repetitiveness of self-injurious behaviors and by the Beck Hopelessness Scale (BHS) and Multi-Attitude Suicide Tendency scale (MAST), as indirect measures of suicidal risk.ResultsPreliminary results showed that inpatients with NSSI (62) presented high scores of indirect suicide risk, similar to SA sample (40).ConclusionsThis result highlights the possibility to consider NSSI and SA in a continuum of psychopathology and that repetitive self-harm even in the absence of clear suicidal intentions represent a significant risk factor in the development of suicidality in adolescence.DisclosureNo significant relationships.
IntroductionNon-suicidal self-injury (NSSI) is a clinical condition defined as intentional, self-inflicted act causing pain or superficial damage without suicidal intents (12-35% of the adolescent community). Several findings show a high correlation between NSSI and impairments in the impulsivity control.ObjectivesThe goal of our study is to evaluate the role of impulsivity in NSSI adolescents, relatively to the inhibitory control, in order to investigate if it can represent a neurocognitive risk factor underlying maladaptive behaviours and which psychopathological dimensions can be associated with this neurobiological process.Methods30 NNSI inpatients (age range: 12 to 18 years), drug-free, were compared with an age-matched control group, using two behavioural paradigms for the study of inhibitory control: the Stop Signal task and the emotive go/Nogo. Psychopathological traits were evaluated by self-report questionnaires for impulsivity dimensions, suicidality and self-injurious acts. Statistical analyses were performed with SPSS program (p =0.05).ResultsNSSI patients did not present impairments in the global inhibitory control but they had longer movement times in both paradigms and faster reaction times in the Go/no-go behavioural paradigm. Therefore, NSSI patients tended to be impulsive at an early stage of movement (rapid TR) and have to slow down in a second phase (TM slow) in order to have time to rework the cognitive processes underlying movement.ConclusionsThe impulsivity dimension is a complex construct that involves multiple interconnected factors. The study of neuro-cognitive and psychopathological aspects and how they are interconnected is necessary to draw new perspectives on the etiopathogenesis of NNSI.
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