Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis.

Sapropterin dihydrochloride has been approved for the treatment of hyperphenylalaninemia in infants and young children with phenylketonuria (PKU). Sapropterin can reduce phenylalanine (Phe) levels in tetrahydrobiopterin (BH4)-responsive patients, potentially preventing the intellectual impairment caused by elevated Phe levels. The long-term effect of sapropterin on intellectual functioning was assessed using the Full-Scale Intelligence Quotient (FSIQ) in 62 children who began treatment before the age of 6 years. Over each 2-year interval, the estimate of mean change in FSIQ was -0.5768 with a lower limit of the 95% confidence interval (CI) of -1.60. At the end of the follow-up period (Year 7), the least squares mean estimate of the change in FSIQ from baseline was 1.14 with a lower limit of the 95% CI of -3.53. These lower limits were both within the clinically expected variation of 5 points. During the whole study period, mean blood Phe levels remained within the American College of Medical Genetics (ACMG) target range of 120-360 µmol/L. In addition, height, weight, and head circumference were maintained within normal ranges throughout follow-up, as defined by growth charts from the World Health Organization (WHO) and Centers for Disease Control and Prevention (CDC) for children below and above the age of 24 months, respectively. All patients (n = 65) enrolled in this study experienced at least one adverse event, as expected from previous studies. In conclusion, long-term use of sapropterin in individuals with PKU helps to control blood Phe, preserve intellectual functioning, and maintain normal growth in BH4-responsive children who initiated treatment between the ages of 0 to 6 years.

Medication management in the context of mental illness: an exploratory study of young people living in Australia.

BACKGROUND: Young people face significant challenges when managing a mental illness, such as acquiring treatment autonomy, being inexperienced users of the healthcare system and associated peer-related stigma. While medication use can be challenging in its own right, there is comparatively little information about the associated experiences and needs of young people with mental illness, particularly in the Australian context. This exploratory study will provide valuable insight into how this group is currently supported in relation to medication use. METHODS: Young people (aged 14-25 years) who had used a prescription medication for any mental illness for a minimum of 2 months were eligible to participate in this qualitative exploratory study. Semi-structured interviews were conducted between October 2017-September 2018 in consultation rooms at two youth-focused mental health support organisations in Brisbane, Queensland. Interview questions explored how participants managed their medication and related experiences. Interviews were transcribed verbatim and descriptively analysed using thematic analysis. RESULTS: Eighteen young people discussed their lived experience during interviews averaging 50 min in duration. Finding the right medication that reduced symptom severity with minimal side-effects was identified as a complex experience for many, particularly when there was a lack of information, support or reduced financial capacity. Young people described a range of strategies to manage medication side-effects, changes and to support routine medication use. CONCLUSIONS: Young people persevered with taking medication to manage a mental illness within a healthcare system that does not adequately support this vulnerable population. There remains a clear directive for healthcare professionals to provide credible information that proactively engages young people as healthcare participants, and for policy makers to consider financial burden for this population with limited financial capacity.

"I feel that if I didn't come to it anymore, maybe I would go back to my old ways and I don't want that to happen": Adapted sex offender treatment programmes: Views of service users with autism spectrum disorders.

BACKGROUND: The cognitive and behavioural profile associated with autism spectrum disorders (ASD) includes difficulties with social interaction, communication and empathy. Each of these may present barriers to effective participation in sexual offending treatment, leading to poorer outcomes. METHOD: Semi-structured interviews were conducted with 13 men with autism and an intellectual disability (including the borderline range) who had completed an adapted sex offender treatment programme. Grounded Theory was used to explore the men's experiences of treatment and perceptions of risk. RESULTS: The men's perceptions of sexual risk were inextricably linked to constructs of identity and shaped their opinions of treatment effectiveness. Risk of reoffending was conveyed through narratives of changes in self and circumstances and included notions of blame and culpability. CONCLUSIONS: The findings illustrated some clear benefits for men with ASD associated with attending adapted sex offender treatment programmes, including delivery of treatment within groups and opportunities for social development. The study supports the view that difficulties with empathy and cognitive flexibility complicates treatment for sexual offending.

A qualitative inquiry on recovery needs and resources of individuals with intellectual disabilities labelled not criminally responsible.

BACKGROUND: Recovery is a widely accepted paradigm in mental health care, whilst the correctional and forensic-psychiatric field is still searching for foundations for its implementation. Knowledge regarding recovery of persons with intellectual disabilities in secure contexts is limited. This study assesses recovery needs and resources among persons with intellectual disabilities labelled not criminally responsible and investigates the impact of the judicial label on recovery processes. METHODS: A sample of 26 individuals was composed purposively, and in-depth interviews were conducted. Recurrent themes were identified using thematic analysis. RESULTS: Traditional recovery themes emerged from the narratives, next to aspects of recovery in a forensic or correctional context. However, the operationalization and proportional impact are specific for this sample. CONCLUSIONS: The social dimension overarches all other recovery dimensions. The integration of an explicit social rhetoric is imperative, including contextual, relational, interactional and societal dimensions. This offers pathways to reverse the traditional, paternalistic model of exclusion and classification.

A realist analysis of treatment programmes for sex offenders with intellectual disabilities.

BACKGROUND: The resources used in treatment for sex offenders with intellectual disabilities have had much research attention, but less has been written about how participants are expected to respond (programme mechanisms). METHODS: A realist evaluation of seven programmes from the UK, Canada, USA, Switzerland and Germany was conducted. In semi-structured interviews, programme designers elucidated how they are intended to work. The data analysis was driven by the realist concern to expose programme mechanisms and intended outcomes. RESULTS: Two main outcomes are increasing risk management capacities and cultivating prosocial identities. These are achieved through developing insights into a person's risks, work on (sexual) self-regulation skills, sexual boundaries and personal values and by developing meaningful social roles and positive relationships. CONCLUSIONS: Over time, there have been changes to some of the treatment resources used. However, there were little differences in terms of the intended programme mechanisms and outcomes, which remained surprisingly consistent.

A qualitative analysis of the experience of staff employed within the forensic disability sector in Victoria, Australia.

BACKGROUND: This paper explores the experience of staff employed within forensic disability across Victoria in an attempt to better understand service needs in this field. The complex needs of individuals with disabilities involved in the criminal justice system or presenting with offence-related behaviours suggest that there is a requirement to improve services directed towards forensic disability. METHODS: Four semi-structured group interviews, determined by geographical location, were completed with employees (n = 14) within the Australian Community Support Organisation, with an average of 5 years of forensic disability experience. Data were analysed based on thematic analysis. RESULTS: Five themes were revealed. Three pre-existing themes were emphasized that included client complexity; poor responses from external services; and funding, and two novel themes labelled as staff well-being and responses to risk. CONCLUSIONS: Recommendations include multiagency collaboration, funding forensic disability services, development of best practice initiatives and advocacy.

Life after release from prison: The experience of ex-offenders with intellectual disabilities.

BACKGROUND: In the UK, little is known about the experience of ex-prisoners with intellectual disabilities. METHOD: A qualitative study was therefore conducted to investigate what life is like for ten men with intellectual disabilities who left prison at least 9 months previously. Semi-structured interviews were employed to explore the men's views of post-prison life, including opportunities/challenges and support received from services. RESULTS: Through interpretative phenomenological analysis, four over-arching themes were constructed: the nature of support and services, the difficulty of staying out of trouble, the importance of family and the need to act the "tough guy". The participants reported being extremely under-supported. They were often hostile about staff who they felt were too focused on their previous crime. CONCLUSIONS: In general, men were very under-supported and the upheavals of post-prison lives appeared to be "normalized" by them. Better understanding of their lives within their social context would benefit their community re-entry.

Intellectual disability and independent living: Professionals' views via a Delphi study.

BACKGROUND: The Convention on the Rights of Persons with Disabilities (2006) states that people have the right to decide where to live and with whom. Professionals play a key role in supporting processes for independent living (IL). This research aimed to identify which ideas generated more or less consensus among professionals regarding the role of different agents involved in the processes of IL in Spain. METHOD: The Delphi method was applied to an expert panel of 25 professionals. RESULTS: A high consensus was reached regarding the role that people with intellectual disabilities, their families and their natural support networks play in supporting IL processes, but there was less consensus on the role played by organizations and professionals. CONCLUSIONS: The study highlights the need to promote practices that favour the decision-making capacity of individuals to move towards models of support based on community and the human rights model.

'It's our everyday life' - The perspectives of persons with intellectual disabilities in Norway.

This study illuminates how adults with intellectual disabilities understand and describe their everyday life and its shortcomings when it comes to equal rights in the context of Norwegian community living. An inclusive research design, including nine persons with mild intellectual disability, two university researchers and two intellectual disability nurses from the municipality, was undertaken. An inductive thematic analysis of data identified three key themes: everyday life - context, rhythm and structure, social participation and staff - an ambiguous part of everyday life. Results show that service provision had institutional qualities; participants experienced lack of information and reduced possibilities for social inclusion and community participation like everyone else. More attention on the role of policy development, support staff and leadership, in relation to facilitating an everyday life with more user involvement, social inclusion and community participation of people needing support, is essential. Participatory, appreciative, action and reflection in workshops for persons with intellectual disabilities and support staff represent a promising approach to promote the voices and interests of persons with intellectual disabilities. This article tells you about the everyday life of people with intellectual disabilities living in Norway. Nine people with intellectual disabilities worked together with two university researchers and two intellectual disability nurses in the community, in workshops. The people with intellectual disabilities liked to have their own apartment and going to work every day. They said that they wanted more social participation with friends and more participation in activities in the community, just like everyone else. They wanted to be treated with more respect by their staff. All participants in the project saw great value in working together and some of them are working together in a new project about involvement in the improvement of support services for people with intellectual disabilities.

Expectations management; employer perspectives on opportunities for improved employment of persons with mental disabilities in Kenya.

Purpose: In Kenya, the employment rate for persons with disabilities is about 1% compared to 73.8% for the general population, and the situation is even worse for persons with mental disabilities. Persons with mental disabilities are often regarded as "mad", and stand little or no chance of employment. We undertook an exploratory study with employers and potential employers to understand factors that hinder or facilitate their employment and to gain insight into employers' perceptions of mental disability.Materials and methods: We adopted a mixed method study design, including in-depth interviews (n = 10) and questionnaires (n = 158) with (potential) employers in Kenya to explore the barriers and facilitators of employment for persons with mental disabilities.Results: Out of the 158 employers who completed the questionnaire, only 15.4% had ever employed persons with mental disabilities. The perceptions that these persons are not productive and may be violent was associated with an unwillingness to employ them (OR: 10.11, 95%CI: 2.87-35.59 and OR: 3.6, 95%CI: 1.34-9.64, respectively). The possession of skills was the highest reported facilitator of employing persons with mental disabilities. Employers suggested that information about mental illness and the disclosure by prospective employees with mental disabilities are relevant for the provision of reasonable accommodation in the workplace.Conclusion: Possession of skills and disclosure by persons with mental disabilities could improve their employability. Information targeted at all actors including employers, employees, government, and policymakers is necessary for balancing employers and employees expectations.Implications for rehabilitationDisabled persons' organisations or mental disability programs that seek to improve the employment of persons with mental disabilities should incorporate methods that address employer expectations through dialogue to find mutual benefits.Employers require essential information about mental illness, and guidance and support in order to provide reasonable accommodation in the workplace for persons with mental disabilities.Disabled persons' organisations and inclusive employment programs should share the positive experiences of employers of persons with mental disabilities with employers who are unaware of the work abilities of persons with mental disabilities to stimulate adoption of inclusive practices.

Characteristics and outcomes of patients with intellectual disability admitted to a specialist inpatient rehabilitation service.

Rehabilitation services for people with mental illnesses have been extensively researched. However, services with similar aims and specifications for patients with intellectual disabilities (IDs) have had little focus. This study describes the characteristics and outcomes of 21 patients admitted to a specialist ID rehabilitation service over an 8-year time frame. Rather that solely accepting 'step-down' referrals, some patients were referred from community settings. During the study, 20 patients were discharged, 80% to lower levels of service restriction, while 14.3% to higher levels. The study suggested that rehabilitation services have an important role within the wider service model for people with ID. Within the service studied, patients were referred from both higher and lower levels of restriction, suggesting the rehabilitation service 'bridged the gap' between inpatient and community settings, supporting the aim of caring for patients in the least restrictive setting for their needs.

The effects of physical activity or sport-based interventions on psychological factors in adults with intellectual disabilities: a systematic review.

BACKGROUND: Inactivity is a major factor contributing to adverse health in people with intellectual disabilities (IDs). While it is generally agreed that physical activity (PA)/sport-based interventions promote cognitive and social development in the general population, little is known about their specific benefits in adults with ID. The aims of this systematic review were (a) to examine the effects of PA/sport-based interventions on intention, motivation and attitude regarding PA/sport participation in adults with ID and (b) to investigate the influence of these psychological factors on behavioural change (e.g. PA level) and quality of life. METHODS: A systematic review has been conducted searching four electronic databases (i.e. SCOPUS, Web of Science, PubMed and Cochrane Library). Studies were included if written in English, peer reviewed, had primary research data, and measured intention, motivation, attitude, behavioural outcomes or quality of life. RESULTS: Thirteen articles met our inclusion criteria of which 10 explored the effects of PA/sport as part of a multi-component intervention. Most investigated outcomes were exercise self-efficacy and quality of life. Five studies measured exercise self-efficacy, and four of them found significant changes. One study found a significant improvement in quality of life and another study in life satisfaction. We observed lack of sport-based interventions, few data about people with severe ID and limited psychological measures. CONCLUSIONS: Personal and environmental factors are key components of behavioural change. Support of caregivers and individualised instructions may benefit exercise self-efficacy. There is lack of information about the effects of psychological factors on behavioural change and quality of life in adults with ID.

Factors that predict good Active Support in services for people with intellectual disabilities: A multilevel model.

BACKGROUND: Active Support, now widely adopted by disability support organizations, is difficult to implement. The study aim was to identify the factors associated with good Active Support. METHODS: Data on service user and staff characteristics, quality of Active Support and practice leadership were collected from a sample of services from 14 organizations annually for between 2 and 7 years, using questionnaires, structured observations and interviews. Data were analysed using multilevel modelling (MLM). RESULTS: Predictors of good Active Support were adaptive behaviour, practice leadership, Active Support training, and time since its implementation. Heterogeneity, having more than six people in a service and larger organizations were associated with lower quality of Active Support. CONCLUSIONS: In order to ensure that Active Support is consistently implemented, and thus, quality of life outcomes improved, organizations need to pay attention to both service design and support for staff through training and practice leadership.

Language nutrition for language health in children with disorders: a scoping review.

The quantity and quality of child-directed speech-language nutrition-provided to typically-developing children is associated with language outcomes-language health. Limited information is available about child-directed speech to children at biological risk of language impairments. We conducted a scoping review on caregiver child-directed speech for children with three clinical conditions associated with language impairments-preterm birth, intellectual disability, and autism-addressing three questions: (1) How does child-directed speech to these children differ from speech to typically-developing children? (2) What are the associations between child-directed speech and child language outcomes? (3) How convincing are intervention studies that aim to improve child-directed speech and thereby facilitate children's language development? We identified 635 potential studies and reviewed 57 meeting study criteria. Child-directed speech to children with all conditions was comparable to speech to language-matched children; caregivers were more directive toward children with disorders. Most associations between child-directed speech and outcomes were positive. However, several interventions had minimal effects on child language. Trials with large samples, intensive interventions, and multiple data sources are needed to evaluate child-directed speech as a means to prevent language impairment. Clinicians should counsel caregivers to use high quality child-directed speech and responsive communication styles with children with these conditions.

Managing demand for social care among adults with intellectual disabilities: A systematic scoping review.

BACKGROUND: Demand for formal social services support for adults with intellectual disabilities is increasing internationally. Initiatives which empower individuals with intellectual disabilities to improve their health, develop living skills or manage chronic illnesses may promote independence and reduce unnecessary dependency on social services. METHODS: A "preventative framework" to managing demand comprising several domains was developed from existing literature to guide the search strategy. RESULTS: Fourteen papers related to three domains in the predetermined preventative framework were selected for inclusion in the review, including twelve economic studies. Outcomes included measurement of care needs, and cost-comparison between social care models or cost-effectiveness of interventions. Due to the heterogeneity, the present authors were not able to quantitatively synthesize findings. CONCLUSIONS: The present authors conclude that evidence linking initiatives across sectors to demand for adult social care is lacking. The present authors identify several gaps in the literature and make recommendations for future research and data recording in practice.

Employment and attendance in day care centres for people with mild intellectual disabilities - do age, gender, functional level or hospital admissions matter?

BACKGROUND: Workforce inclusion is an important political goal in many countries. However, nearly 70% of Norwegians registered with mild intellectual disabilities (IDs) are not registered employed or attending in day care centres. This study investigates the association between age, gender, functional level and hospital admissions with employment or attendance in public financed, community-based day care centres for adults with mild IDs in Norway. METHOD: This study is based on data from a linkage of the national population-based registries from 2013 to 2015: Statistics Norway (SSB), the Norwegian Information System for the Nursing and Care Sector (IPLOS) and the Norwegian Patient Registry (NPR). The sample consisted of 2370 adults registered with a mild ID, receiving disability pension in Norway, aged 18-67 years. Binary and multinomial logistic analyses, adjusted for age, gender, functional level and hospital admissions, were performed. RESULTS: In 2015, 45.7% and 19.6% of the samples aged 20-31 and 52-63 years, respectively, were registered as employed or in day care centres. Participation in day care is a public service registered in IPLOS, which requires registration of functional level, while attendance in employment support is registered in SSB, where functional level is not registered. Compared with people registered with a high functional level, the probability of being employed or in day care centres was lower for people without registration of functional level. People with hospital admissions were less likely to be employed, especially if they had both psychiatric and somatic hospital admissions. People were less likely to attend day care and open employment only if they had a combination of both types of hospital admissions. Attendance in day care centres was less likely for men than women. CONCLUSIONS: Older people with mild ID, without registered functional level (meaning not receiving public community-based services) and with a history of hospital admissions were significantly less likely to be employed or participate in day care centres. The clear association between not being employed or attending day care centres and not having one's functional level registered implies there is a need for increased focus on how to enhance work participation among people with mild IDs who are not within the system of receiving public services.

In pursuit of meaningful occupation: Employment and occupational outcomes for older Irish adults with an intellectual disability.

BACKGROUND: Adults with an intellectual disability (ID) have much lower rates of employment than their counterparts without intellectual disability, which increases their risk of poverty and social exclusion. Differential treatment of people with intellectual disability in welfare and training policies suggests an expectation they will be passive welfare recipients rather than productive employees. METHODS: This paper aims to examine occupational activities by older people with intellectual disability in Ireland, exploring factors influencing outcomes using data from the IDS-TILDA study (n = 708). RESULTS: Most people were unemployed but engaged in regular occupational activity. Occupational activity was associated with better emotional/mental health. Activities of Daily Living (ADL) functioning was associated with an active occupational status, while social supports most strongly predicted high occupational engagement across a range of activities. CONCLUSIONS: A focus on the individual meaning derived from a broad range of engagement may better support people with intellectual disabilities to benefit from regular occupational activity.

Longitudinal use and factors associated with public transport and other travel options for older people with an intellectual disability in Ireland.

BACKGROUND: Transport is an important basis for social participation. Challenges to accessing and using transport for people with intellectual disabilities increase their risk of exclusion and loneliness. METHOD: Data from a nationally representative study of older people with intellectual disabilities (n = 708) were used to examine longitudinal changes in transport usage and factors associated with using public transport and other travel options. RESULTS: Findings confirmed that this population depends on others for transportation. The most frequently used mode, staff-supported transport, showed no significant longitudinal change. Public transport was secondary, with only moderate continued use between data collection points. Level of intellectual disability most strongly predicted public transport use, while community residence most strongly predicted using public transport to attend work or day programmes. CONCLUSIONS: Transport usage is associated with demand and supply factors linked to the person's environment, including having somewhere to go that requires transport and availability of transport options.

The rehabilitation of the mentally disabled in the community act in Israel: Entrepreneurship, leadership, and capitalizing on opportunities in policy making.

This paper examines the role of policy entrepreneurs in the formation of a rehabilitation program in the field of mental health in Israel, shedding light on their role in general and specifically in mental health policy formation. Our research is based on a historical case study. The legislation process was examined through interviews with key actors in the legislative process and archival materials. While in general our findings reinforced existing literature, our research also revealed new information on several topics: organizations as policy entrepreneurs; inter-sectorial coalitions of entrepreneurs; and possible problems arising from the concept of 'leadership by example'.

Effectiveness of the serious game 'You & I' in changing mentalizing abilities of adults with mild to borderline intellectual disabilities: a parallel superiority randomized controlled trial.

BACKGROUND: Persons with mild to borderline intellectual disabilities generally show dysfunctions in mentalization and stress regulation, resulting in problematic social relationships and personal distress. Intervention programs may improve mentalizing abilities. The aim of this study is to examine the effectiveness of the serious game 'You & I' in changing mentalizing abilities and stress regulation in adults with mild to borderline intellectual disabilities. METHODS: A two-arm, parallel, superiority randomized controlled trial will be used with 172 adults with mild to borderline intellectual disabilities. Participants will be randomly assigned to either the experimental group to play the serious game 'You & I' or a waitlist control group. Participants will be assessed at baseline, post intervention (5 weeks after baseline), and follow-up (6-8 weeks after post intervention). They also will fill in questionnaires for personal factors, personal development, personal well-being, social validity, autism spectrum quotient (demographic variables), mentalizing abilities (primary outcome measure), and stress regulation (secondary outcome measure). DISCUSSION: The serious game 'You & I' aims to improve mentalizing abilities in adults with mild to borderline intellectual disabilities, which is expected to lead to improved regulation of stress in social relationships. The study's unique feature is the use of a serious game to improve mentalizing abilities. If the intervention is effective, the serious game can be implemented on a broad scale in Dutch care organizations for people with intellectual disabilities as an effective preventive tool to improve mentalizing abilities. TRIAL REGISTRATION: Netherlands Trial Register, NTR7418 . Registered on 2 August 2018.