'Getting in touch' with people with severe learning disabilities.

ABSTRACTPurpose: The objective of this study was to compare the prevalence and types of eye disorders in a clinical sample of 118 adult people diagnosed with infantile autism (IA) during childhood with 336 sex- and age-matched controls from the general population.Methods: All participants were screened through the nationwide Danish National Hospital Register. The average observation time of both groups was 37.2 years, and mean age was 49.6 years, by the end of the observation period.Results: The overall prevalence of any eye disorder was 15.3% (18/118) in cases with IA, compared to 10.1% (34/336) in controls (p = 0.18). Refraction and accommodation disorders were significantly associated with IA: 7.6% (9/118) vs 1.2% (4/336) (p = 0.001). The rate of eye disorder was particularly high (24.5%) in those with a co-occurring profound or severe learning disability (IQ < 50).Conclusions: Refraction and accommodation disorders were more frequently present in Danish adults with IA, particularly when a profound or severe learning disability was co-present. The increased prevalence of eye disorders in participants with a severe or profound learning disability, and the fact that people with IA do not necessarily realize the presence of a vision deficit, necessitates increased ophthalmological attention.

BackgroundAssessment of children with complex and severe learning disabilities is challenging and the children may not respond to the monochrome stimuli of traditional tests. The International Association of Scientific Studies...

Trauma has been described as an experience that overwhelms a person’s ability to cope. The coronavirus disease 2019 (COVID-19) pandemic has produced traumatic effects in many people, particularly on those with severe and profound learning disabilities, who are generally at higher risk of trauma than others. Understanding the neurobiological responses to trauma may elucidate which experiential strategies could be used to support people with severe and profound learning disabilities who may have experienced trauma. In particular, trauma can lead to the loss of one’s sense of safety, so restoring this sense of safety can be crucial in supporting recovery.This article details some of the potential signs and symptoms of trauma and describes some of its effects on the mind, brain and body. It also explores strategies that learning disability nurses can use to assist people with severe and profound learning disabilities to recover from trauma.

This is the third and final report on a study of the hearing of people with severe learning disability in Lewisham and North Southwark. The previous two reports were published in this journal, Volume 17: 33–7 and Volume 20: 126–33. The initial report on a sample of 100 people caused concern by implicating a greater prevalence of hearing loss than most previous work had shown. It was then possible to set up a research project to test the validity of initial results. An intermediate report published after the examination of 300 subjects gave similar results. Approximately 50% of the learning disabled population in Lewisham and North Southwark i.e. 500 people, have now been tested and this paper confirms the findings and stresses the importance of full audiological examination at key ages. In view of this a service has now been established in order to test the remaining people wherever possible, supervise those already found to have a hearing loss and, most importantly, to train all concerned in caring for the learning disabled who also have a hearing loss.

Aromatherapy is the use of essential oils to promote health and well being and is being used increasingly with children and adults who have severe learning disabilities. Although well known for its relaxing, invigorating and health promoting effects, its use can be further extended to provide sensory stimulation and to help develop communication through a trusting relationship. This article sets out to explore each of these areas and to describe how they have been used with people with severe learning disabilities.

Periventricular nodular heterotopia (PNH) is a rare neuronal migration disorder in which immature neurons fail to undergo a directed migration from the ventricular and subventricular zones to the cerebral cortex. Classic PNH occurs predominantly in females and is associated with periods of epilepsy and near-normal intelligence. One gene associated with PNH was mapped to chromosome Xq28. PNH with learning disability is reported in 15 male patients with several syndromes and various congenital abnormalities such as craniosynostosis, frontonasal malformation, and agenesis of the corpus callosum. We present a 26-year-old male patient who was followed up with the diagnosis of epilepsy from the age of 1 year. Additionally the patient had severe learning disability, obesity, and hypogonadism. Imaging of his brain demonstrated PNH. Klinefelter syndrome was clinically suspected, and analysis of his chromosomes revealed a karyotype 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3). Molecular techniques, such as subtelomere-specific fluorescent in-situ hybridization and multicolour banding, were also used. The same translocation was demonstrated in his mother and his maternal grandmother. This family might help to explain the gene localization of X-linked recessive PNH. In our patient, PNH is associated with familial (X;19) translocation. To our knowledge, this unique combination has not been reported in the medical literature.

John Harris, Chief Executive of the British Institute of Learning Disabilities, desctribes work carried out with teachers and classroom assistants in special schools to establish effective ways of responding to challenging behaviours presented by pupils with severe learning disabilities. He suggests a range of strategies which may be helpful to teachers, their assistants and other professionals.

This is a response to the letter of McGonigal et al entitled “Screening for depression in youth with epilepsy: The NDDI-E-Y.”1 We applaud McGonigal et al for examining depressive symptoms in youth with epilepsy and appreciate their interest in the NDDI-E-Y. First, we address the 3 main comments in their letter: (1) scoring, (2) reference to an 11-item version, and (3) request for item and total-score distributions of the NDDI-E-Y. We are grateful to McGonigal et al for inquiring about the NDDI-E-Y scoring, resulting in our discovery that we incorrectly reported scoring instructions. In both of our papers,2, 3 the methods incorrectly indicate that responses should be coded on a 0-3 scale (0 = Never and 3 = Always or often), when in fact, in the analyses, the NDDI-E-Y was scored on a 1-4 scale (1 = Never and 4 = Always or often, total scores range from 12 to 48), resulting in a score of 32 and above for clinical depressive symptoms.3 We have submitted erratum to Epilepsia to correct the scoring instructions in the methods of both papers and have contacted other researchers currently using the NDDI-E-Y. We sincerely apologize for any confusion this may have caused. Using a 1-4 rating scale for each item on the NDDI-E-Y, 23.2% of our sample had NDDI-E-Y scores over 32, and similarly, 25% of our sample had Children’s Depression Inventory-2 (CDI-2) T-scores of ≥65.2, 3 Both the NDDI-E-Y and the CDI-2 showed similar rates of clinically significant depressive symptoms.3 Thus, we are confident in our results that we reported previously. It is difficult for us to comment on or compare the results of McGonigal et al1 to ours because we have very little information about content validation of the French NDDI-E-Y, the sociodemographics and seizure characteristics, and methodology used to examine the NDDI-E-Y in their sample. We raise the following questions. Did the items translated into French undergo content validation? Which version of the Children’s Depression Inventory was used and what was the cutoff score? Did youth have new-onset or chronic epilepsy? Our sample was mostly chronic epilepsy, and there are good data to suggest that behavioral health outcomes differ for patients with new-onset versus chronic epilepsy.4 Were there any patients with intellectual or severe learning disabilities? The NDDI-E-Y has not been validated on youth with cognitive abilities below 85 or with severe learning disabilities. Given the cognitive requirements to understand the questions on the NDDI-E-Y, it is important to consider the developmental level. We apologize for the reference to an 11-item version of the NDDI-E-Y in Wagner et al2 and thank McGonigal et al for catching this error. We have submitted an erratum to Epilepsia to correct the typos in the introduction and in the methods. We can provide assurance that the 12-item NDDI-E-Y was used in our distributions of responses for total scores (Table S1) and for each item (Table S2). We encourage researchers across the globe who are using the NDDI-E-Y to share and publish their results, and we welcome further validation of the NDDI-E-Y, with the recognition that cutoffs may be different for specific epilepsy groups (ie, new onset versus chronic epilepsy) and in youth with epilepsy in different cultural contexts. None of the authors has any conflict of interest to disclose. We confirm that we have read the Journal’s position on issues involved in ethical publication and affirm that this report is consistent with those guidelines. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Objectives. Children with severe learning disabilities were identified by parental report as having a severe sleep problem (according to research criteria). A subgroup were considered by their parents to have no difficulty with their sleep pattern. The study aimed to investigate why sleeping problems of equal intensity should be a problem for one group of parents and not for another group, with a view to (a) establishing whether the families differed in the extent the child's sleep pattern affected the family and (A) identifying parent and child factors which may affect the parents' ability to tolerate the sleep problem.Design. Three groups (matched for sex, age and duration of sleep problem if appropriate) of 13 were compared: children with no sleep problem (NSP), children with a recognized sleep problem (SP), and children with an unrecognized sleep problem (USP).Methods. Mothers completed questionnaire assessments of the children's sleep and daytime behaviour and the mothers' sleepiness, coping style, stress and perceived control.Results. The USP mothers and children are similar to the NSP mothers and children. Compared to the SP group, the mothers are less stressed, have increased perceived control and the children have fewer daytime behaviour problems. USP mothers and SP mothers are equally dissatisfied with their child's, and their own, sleep pattern.Conclusions. USP mothers do not unrealistically deny that their child has a sleep problem but there are protective factors within the child and the parent which enable the mothers to tolerate sleep problems and suffer less negative effects. Implications for interventions arc considered.

Music Therapy (MT) has shown many benefits in helping autistic children, but some challenges remain due to children’s social anxiety and sensory issues. Yet, very few studies have investigated how Virtual Reality (VR) could help to increase the accessibility of MT approaches. This paper presents an exploratory study investigating the use of VR to perform MT sessions for autistic children with severe learning disabilities and complex needs. The study is performed in terms of acceptability, usability, and social communication. A collaborative MT approach was designed in close collaboration with music therapists from Denmark and psychologists from France, using head-mounted display-based VR. Testing were conducted with thirteen children with various neurodevelopmental conditions and intellectual disabilities at a children’s day hospital in Paris. The results indicate positive acceptability and usability for these children, and suggest a positive effect of MT in VR regarding communication.

Many students with learning disabilities find it difficult to acquire basic reading skills. This is even more of a challenge for students who are non‐vocal. The purpose of the present study was to pilot the use of Headsprout Early Reading© (HER©), an online reading programme, with four non‐vocal students with a severe learning disability (SLD), over the course of a nine‐week period. Additional table‐top activities were designed and implemented to augment the online instruction. None of the students completed the programme. Three students improved their early reading skills over the course of the intervention. Staff members indicated positive experiences of using HER©, especially mentioning how motivated the students were to engage with the programme. HER© for students with SLD requires one‐to‐one support and a longer implementation period to achieve completion; these have implications for resourcing in special schools. However, HER© shows promise with non‐vocal students with learning disabilities and evidence supports the need for larger‐scale evaluation research.

Accessible summary This research project is about Intensive Interaction. Intensive Interaction is a way of communicating with people who have severe and profound learning disabilities and can be used with people who do not communicate with words. We asked three paid carers that trained in Intensive Interaction about their experience and how training had changed their work with people with learning disabilities. This research project matters to people with learning disabilities because it tries to find out the best way to train people to do this work. This could help make services better for everyone. SummaryThe engagement of people with learning disabilities in social communication is crucial to the development of relationships with others, a sense of social inclusion and self‐worth. Intensive Interaction is an approach that can help carers develop their skills to engage people with severe and profound learning disabilities in personally relevant communication. Carers learn techniques by attending workshops offered by health and social care professionals, and this study seeks to explore the impact of one such training programme. This study used interpretative phenomenological analysis to explore the lived experience of Intensive Interaction training and practice of three paid carers who worked with people with learning disabilities. Three superordinate themes emerged from the analysis: ‘Investment’, ‘Outcomes’ and ‘Challenges’. Results suggest that participants had an overwhelmingly positive experience in learning and using Intensive Interaction and that coaching, supervision and support were vital. The clinical and practical implications for this are discussed.

<h3></h3> A set of twin brothers with Klinefelter’s syndrome were seen in community paediatric clinic following concern about severe learning disabilities requiring special educational needs school. As Klinefelter’s is not commonly associated with severe learning disabilities, they were enrolled in the 100,000 genome project. Whole exome sequencing revealed a mutation involving the SOX5 gene on chromosome 12p12, which is associated with Lamb-Shaffer syndrome. Lamb-Shaffer syndrome is a neurodevelopmental disorder characterised by global developmental delay, learning disability, poor expressive speech and mild dysmorphic facial features (Nesbitt et al 2015). Less than 100 cases have been reported since the condition was first described in 2012. This new genetic diagnosis has enabled the health care professionals and the parents to understand more about the clinical features, including what surveillance and investigations the patients may require based upon other reported cases with the same mutation. For parents and patients, having a named diagnosis allows them to connect via support groups with other families who have been diagnosed with the same condition. Historically the ‘diagnostic odyssey’ in a child with a rare disease could continue for many years, with serial testing of different genes, often with no answers found for patients or their parents. Learning disability is genetically heterogeneous and has previously presented challenges for molecular diagnoses using traditional genetic testing methods. Next generation sequencing has made it possible to sequence millions of fragments of DNA simultaneously, enabling the sequencing of whole patient exomes as part of the 100,000 genome project. These patients are two of many new genetic diagnoses that are a result of the genome project, which are highlighting the utility of exome sequencing in clinically and genetically heterogeneous conditions such as learning disability. In this unusual case these twins have two different genetic underlying conditions, which demonstrates the importance of investigating further possible causes when previous diagnoses do not explain the evolving clinical phenotype.

A number of changes in legislation have made an impact on the way services engage with people who have a learning disability. These include the Mental Capacity Act amended in 2007 and the Forced Marriage Civil Protection Act 2007. The impact of these two acts has helped psychological services in particular support people with learning disabilities to make informed decisions about their lives. They have also highlighted issues relating to an individual’s right to make choices, which may not ultimately be in their best interests when they have a learning disability. Prevalence rates Overall, prevalence rates for a mild learning disability range between three and six people per thousand of the general population (DH, 2001). In the UK, it is estimated that up to 350,000 people have a severe learning disability and as many as 1,750,000 people may have a mild learning disability (The Foundation for people with Learning Disabilities 2003). Although recent initiatives such as Valuing People: A New Strategy for Learning Disability for the 21st Century (DH 2001) as well as the Six Lives report ( 2010) and Winterbourne Enquiry (2012) have ensured the lives of learning disabled people have become an issue of public and political importance, historically, the treatment of this population has been poor (Sperlinger 1999). Throughout the nineteenth and first half of the twentieth century, alongside efforts to provide institutional care and training, people with learning disabilities were subject to humiliation, exhibited as freaks, threatened with eradication or put at risk for the ‘good of others.’ The latter was evidenced by the early testing of the measles vaccine (O’Hara, 2003). We would argue that historical perceptions of people with learning disabilities as less valued by society, their needs ignored and their emotional lives largely misunderstood, are still represented in some present day ethical and moral value systems. As a consequence of the above we believe that as well as policy initiatives, the value system of the therapist is paramount and is likely to be reflected in their way of working and being with the client. For example therapeutic integrity might be undermined if a therapist fundamentally believes people with a learning disability lack capacity and should be denied the opportunity, for example, to have fulfilling sex lives or if a client has a genetic disorder/syndrome and the therapist believes this means that they should not procreate.

Sensory approaches are often used by Occupational Therapists working with clients with a severe or profound and multiple learning disabilities (SLD/PMLD). The aims of this review were to synthesise the outcomes of sensory approaches for adults with an SLD/PMLD and describe the key intervention components. A mixed methods literature review of three databases was completed to identify studies where sensory approaches were used for clients with an SLD/PMLD. Peer-reviewed research articles published between January 1990 and April 2021 were included. Data quality was assessed using the Mixed Methods Appraisal Tool. A convergent-segregated approach to synthesis was taken, including thematic analysis of qualitative data and a narrative review of quantitative data. Eighteen studies were included. Positive outcomes were reductions in challenging behaviour, stress and improved engagement, attention and communication. Three themes emerged, suggesting important components of sensory approaches for clients with an SLD/PMLD: matching sensory stimuli to the needs of the individual, sensory integration therapists and caregivers as facilitators and increased intervention duration and frequency. Evidence suggests that sensory approaches support positive social, emotional and cognitive outcomes for individuals with an SLD/PMLD. Essential features of sensory approaches for this client group are sensitive use of sensory stimuli, skilled facilitators and more intensive intervention protocols.