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Editor's Choice : 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 |
Editor's Choice : Incidence of Anxiety in Patients with Multiple Sclerosis (MS)
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Abstract: Objective: To investigate the (1) incidence of anxiety and (2) association of anxiety with disease duration, depression, and age in an outpatient Multiple Sclerosis (MS) Center. Background: The incidence of anxiety varies in the literature but is estimated to affect 44.5% of people with MS. Anxiety can be a predictor of poor Quality of Life, especially relevant in progressive illnesses, such as MS. Though research has shown that patients newly diagnosed experience higher anxiety levels, the relationship between anxiety and disease duration is unclear. Since anxiety can be comorbid with depression in MS populations, it is relevant to establish its association in this setting. Finally, though anxiety usually increases in older age, research for this relationship in MS populations is inconclusive. Design/Methods: The commonly used Hospital Anxiety and Depression Scale, was distributed once to patients with MS over a 3 month period to assess anxiety and depression scores. MS disease duration and age were confirmed by neurologists. Results: Out of 160 patients with MS who completed the HADS, 19% reported abnormal anxiety, 14% reported borderline cases of anxiety, and 67% did not report anxiety. After following up on significant correlations, depression and younger age were related to higher anxiety levels, (R2=.35, F(4,144)=19.26, p<0.001). The standardized partial regression coefficients indicated 2 statistically significant predictors, depression (β=.55, p=<.001) and age (β=-.25, p=<.001). Discussion: 33% of patients reported symptoms of anxiety, emphasizing the need to focus on treating anxiety, specifically, early in their disease course. Clinicians may also want to recognize that elevated depression scores predicted anxiety. Lastly, in our cohort, the younger population reported higher anxiety, demonstrating that progressive illnesses may affect anxiety levels in younger populations more. Since approximately one third of patients with MS expressed anxiety symptoms, it is important to incorporate this into treatment plans. Keywords: Multiple Sclerosis (MS), anxiety, disease duration, age, disability.Download Full Article |
Editor's Choice : 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. |
Editor's Choice : A Discussion of the Treatment of People with an Intellectual Disability Across Healthcare and the Modernization of Learning Disability Nursing
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Abstract: Aims: A discussion of the treatment of people with an intellectual disability across healthcare and the modernisation of learning disability nursing. Background: Health inequalities are at the forefront of the collective mind of healthcare professionals and politicians, this paper explores why people with an intellectual disability have more health issues, die earlier and sometimes receive poor care, leading to unnecessary suffering and importantly, how this may change. Learning disability nursing has long been viewed as different and less valued, probably due to dual stigmatisation, or lack of understanding of specialist knowledge and skills required. This essential field of nursing is becoming a rare resource in our battle against health inequalities, yet internationally it is becoming recognised as crucial. Design:Discussion Paper. Data Sources:Literature and policy (1971 – 2012). Implications for Nursing:All nurses need to recognise their role in meeting the health care needs of people with an intellectual disability. Health care managers and commissioners should value the unique contribution of learning disability nurse in addressing health inequalities. Conclusion:Learning disabled people, their carers and professionals view the role of the learning disability nurse as central for effectively identifying and meeting health needs, reducing inequalities and barriers, supporting decisions around capacity, consent, best interests and advising and educating professionals. Recommendations for commissioning, nursing and services are made. Summary Statement: Why is this discussion paper needed? People with an intellectual disability have shorter life-spans and receive poor healthcare because of the barriers to good health developed in societies constructed by and for people without a disability. Internationally, the need for learning disability nurses, with their specific knowledge and skills, is being recognised in the battle against early and unnecessary deaths because of discrimination and health inequalities. Learning disability nurses and ‘Strengthening the Commitment’ lead on improving healthcare for learning disabled people and this paper raises the profile of this important health issue. What are the key findings? This discussion paper explores how most of the poor health experienced by people with an intellectual disability is about discriminating healthcare provision and crucially, not because the person has a disability. People with an intellectual disability have greater health needs than others and despite this, nonspecific health professionals often have scant understanding of their disability and health needs. Learning disability nursing as a vital resource has in recent years seen posts reducing in the NHS, with actual and commissioned numbers of registered learning disability nurses dropping. How should the findings be used to influence policy/practice/education/research? People with an intellectual disability and nonspecific staff often feel they are inadequately educated and lack appropriate skills for quality healthcare provision for learning disabled people; this has to change. Sir Johnathon Michael (2008) recommendation 1 advises that all health professionals be competent in supporting learning disabled people in a non-discriminatory way - universities and employers urgently need to adhere to this recommendation. Professionals, learning disabled people and carers state learning disability nurses are vital to acquiring human rights - increased international commissioning for learning disability nurses to enable quality healthcare, education and advice to professionals is pressing. Keywords: Nursing Practice, Learning Disability, Health Inequalities, Policy, Professional Issues.Download Full Article |
