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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. |
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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 |
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Abstract: A prominent symptom of Autism Spectrum Disorder includes restricted and repetitive behaviours. This symptom has been divided into three subtypes: repetitive motor behaviour, insistence on sameness and circumscribed interests. In the past, the neural correlates of these behaviours have been largely understudied. More recently, neuroimaging studies have pointed to a number of neural networks that may underlay these behaviours. However, results from this work have been varied and remain difficult to integrate. The purpose of this review is to summarize recent neuroimaging studies on restricted and repetitive behaviours in autism, and to provide an organized framework that will permit a clearer understanding of the neural correlates of these behaviours. Using a developmental perspective, this review will identify that there are distinct and overlapping neural networks that are associated with repetitive motor behaviour, insistence on sameness and circumscribed interests. In addition, this review will identify a series of executive and affective function tasks that have proven efficacious in the study of repetitive behaviour. Keywords: Autism spectrum disorder, neuroimaging, repetitive behaviour, repetitive motor behaviour, insistence on sameness, circumscribed interests.Download Full Article |
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Abstract: Educational legislation has made reading a priority for students with significant intellectual disabilities (ID) and associated speech, language, sensory, or physical impairments. Historically, reading instruction for students with significant ID has focused on sight word instruction, with limited exposure to other essential reading skills. This article focuses on the evidence-based instructional methods that effectively and efficiently foster the reading development of students with significant ID. The authors reviewed the literature from the past 20 years on reading interventions for students with significant ID. In spite of access and opportunity barriers that have inhibited the reading development of students with significant ID, a synthesis of the empirical research on reading instruction suggests that students with significant ID and associated disabilities can learn phonemic awareness, phonics, vocabulary, fluency, and comprehension skills with direct instruction. Implications for providing reading instruction that effectively promotes reading development are discussed and areas for future research are identified. Keywords: Intellectual disabilities, sight word instruction, reading instruction, speech and language impairment, physical impairments.Download Full Article |
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Abstract: Background: Prader-Willi syndrome (PWS) is a genetic disorder caused by the lack of the paternal contribution of Chromosome 15q11.2-q13.2 region.It is associated with global developmental delays, including speech and language delay.There is no information regarding the prevalence of apraxia of speech in this syndrome, despite the fact that it is often recognized clinically.In this study, we sought to investigate the prevalence of apraxia in children with PWS and speech and language delay. Methods: Thirty children with genetically confirmed PWS, ages 22 months to 9 years of age, were evaluated by a certified speech-language pathologist due to physician concerns about speech and language development.Children were assessed by a variety of tests based on their age. Results: Sixteen children had receptive language deficits and 18 had expressive language deficits.Fourteen of the thirty children (47%) had results on evaluation that were consistent with apraxia, of which 57% were male, and 71% (p<0.001) had deletion-type PWS. Conclusion: As expected, children with PWS who are referred for concerns about speech and language development are commonly found to have receptive and expressive language deficits.However, there was a high prevalence of apraxia in our patients, which has not previously been reported in this population.We recommend that children with PWS be evaluated for apraxia by a speech-language pathologist once their expressive language skills are developed enough for speech assessment.The diagnosis of apraxia will necessitate specific speech therapy techniques which may not otherwise be used for individuals with this syndrome, thus resulting in more severe and prolonged speech delays. Keywords: Prader-Willi syndrome, apraxia, speech delay.Download Full Article |