What is important for advance care planning in the palliative phase of people with intellectual disabilities? A multi-perspective interview study.

BACKGROUND: Advance care planning (ACP) is the process of discussing and documenting wishes and preferences for future care. Research about ACP for people with intellectual disabilities (ID) is limited. This study describes what is important for ACP in the palliative phase of people with intellectual disabilities. METHOD: In-depth interviews were conducted with people with intellectual disabilities (n = 5), relatives (n = 7) and professional caregivers (n = 8). Qualitative data were analysed inductively, using the principles of thematic analysis. RESULTS: Important themes in ACP were as follows: tailoring care, working as a team and taking and giving time. The perceived role of people with intellectual disabilities in ACP was to express their wishes. Relatives had a signalling, representing and contributing role. Professionals felt their role was to inform, collaborate and coordinate. CONCLUSIONS: A staff training programme about ACP should cover how to build and maintain close relationships, provide a safe environment and address ACP as an integral part of care.

End-of-life decisions for people with intellectual disabilities, an interview study with patient representatives.

BACKGROUND: Not much is known about the process of end-of-life decision-making for people with intellectual disabilities. AIM: To clarify the process of end-of-life decision-making for people with intellectual disabilities from the perspective of patient representatives. DESIGN: A qualitative study based on semi-structured interviews, recorded digitally and transcribed verbatim. Data were analysed using Grounded Theory procedures. PARTICIPANTS: We interviewed 16 patient representatives after the deaths of 10 people with intellectual disabilities in the Netherlands. RESULTS: The core category 'Deciding for someone else' describes the context in which patient representatives took end-of-life decisions. The patient representatives felt highly responsible for the outcomes. They had not involved the patients in the end-of-life decision-making process, nor any professionals other than the doctor. The categories of 'Motives' and 'Support' were connected to the core category of 'Deciding for someone else'. 'Motives' refers to the patient representatives' ideas about quality of life, prevention from suffering, patients who cannot understand the burden of interventions and emotional reasons reported by patient representatives. 'Support' refers to the support that patient representatives wanted the doctors to give to them in the decision-making process. CONCLUSIONS: From the perspective of the patient representatives, the process of end-of-life decision-making can be improved by ensuring clear roles and an explicit description of the tasks and responsibilities of all participants. Regular discussion between everyone involved including people with intellectual disabilities themselves can improve knowledge about each other's motives for end-of-decisions and can clarify expectations towards each other.

MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

Kabuki Syndrome (KS) is a rare syndrome characterized by intellectual disability and multiple congenital abnormalities, in particular a distinct dysmorphic facial appearance. KS is caused by mutations in the MLL2 gene, encoding an H3K4 histone methyl transferase which acts as an epigenetic transcriptional activator during growth and development. Direct sequencing of all 54 exons of the MLL2 gene in 45 clinically well-defined KS patients identified 34 (75.6%) different mutations. One mutation has been described previously, all others are novel. Clinically, all KS patients were sporadic, and mutations were de novo for all 27 families for which both parents were available. We detected nonsense (n=11), frameshift (n=17), splice site (n=4) and missense (n=2) mutations, predicting a high frequency of absent or non-functional MLL2 protein. Interestingly, both missense mutations located in the C-terminal conserved functional domains of the protein. Phenotypically our study indicated a statistically significant difference in the presence of a distinct facial appearance (p=0.0143) and growth retardation (p=0.0040) when comparing KS patients with an MLL2 mutation compared to patients without a mutation. Our data double the number of MLL2 mutations in KS reported so far and widen the spectrum of MLL2 mutations and disease mechanisms in KS.

Development, Implementation, and Evaluation of an Advance Care Planning Program for Professionals in Palliative Care of People With Intellectual Disability.

In this article we describe how an advance care planning (ACP) program was developed, implemented, and evaluated. Our aim was to improve ACP in palliative care for people with intellectual disability (ID). The program was based on 10 competencies needed for ACP and was developed in a co-design process with people with ID, relatives, and professionals. The program was implemented in six ID care organizations in the Netherlands and consisted of an information pack, a training course, and an implementation interview about implementing ACP. Professionals indicated that their competencies had improved, particularly regarding communication and the application of ACP as a standard element in palliative care practice. This program therefore seems helpful in training ID care professionals in the competencies needed for ACP.

[Timely consideration of future care; advance care planning for people with intellectual disabilities]. / Tijdig nadenken over toekomstige zorg.

People with intellectual disabilities (IDs) are often unable to decide for themselves regarding complex medical decisions, and need assistance from representatives, often next-of-kin. People with IDs are often frail. This frailty is characterized on the one hand by health problems, on the other hand by significant limitations in both intellectual functioning and in adaptive behaviour. In this group of people, when compared to the general population, the principles of palliative care are applicable more often and over a longer period. Advance care planning should be considered not only at the end of life, but at each stage where decisions have to be made that may affect quality of life. In this article, we present three patient cases to illustrate the complexity of the process and the commitment of representatives and other key stakeholders.

Advance Care Planning in Palliative Care for People With Intellectual Disabilities: A Systematic Review.

CONTEXT: Advance care planning (ACP) is defined as a person-centered, ongoing process of communication that facilitates patients' understanding, reflection, and discussion of goals, values, and preferences for future care. There is evidence for the general palliative care population that ACP increases compliance with patients' end-of-life preferences and improves quality of care near the end of life. OBJECTIVES: To gain insight into what is known about the use and effects of ACP in palliative care for people with intellectual disabilities (IDs). METHODS: Four databases were searched systematically: PubMed, PsycINFO, Embase, and CINAHL. A stepwise procedure was used to identify relevant studies based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Statement. The review included empirical quantitative, qualitative, and mixed methods studies concerning people with ID who receive palliative care or who died non-acutely, and describing ACP. Methodological quality was graded using a critical appraisal tool. RESULTS: A total of 14 studies were included. Most studies examined the perspective of professionals and/or relatives. None of the studies focused on the perspective of patients with ID. The studies concerned different elements of ACP, mainly decision-making and organizational policies. No effect studies were found. Obstructing factors were difficulties in recognizing palliative needs and uncertainties among relatives and professionals about their roles and tasks in ACP. Conducive factors were good working relationships between professionals and relatives. CONCLUSION: There are some indications that ACP could be useful for people with ID, but more knowledge is needed about whether and how ACP should be used.

[Advance care planning for people with intellectual disability]. / Advance care planning: proactief medisch beleid bij mensen met een verstandelijke beperking.

Difficult medical decisions regularly need to be made for people with intellectual disability. They are often unable to play a meaningful role in this and the decisions fall to the family or guardians. A useful aid to proactive medical management is advance care planning. This is a long-term care plan which is centred on the well-being of patients and their quality of life. Ideally it should be a matter for patients and those closest to them, the responsible medical practitioner and those tasked with the day-to-day care of patients. It is important to draw up this plan carefully and to regularly review it in the light of current circumstances.

Decision making about medical interventions in the end-of-life care of people with intellectual disabilities: a national survey of the considerations and beliefs of GPs, ID physicians and care staff.

OBJECTIVE: This paper explores the personal beliefs and specific considerations of professionals regarding decisions about potentially burdensome medical interventions in the end-of-life care for people with intellectual disabilities (ID). METHODS: A survey questionnaire covering decision making about potentially burdensome medical interventions was sent to nationally representative samples of 294 ID care staff-members, 273 ID physicians and 1000 GPs. RESULTS: Professionals predominantly believed that considerations about quality of life are most important. Quality of life and wellbeing were also frequently considered in both decisions to start/continue an intervention and decisions to forgo/withdraw an intervention. Seventy percent believed that people with ID should always be informed about interventions, and 61% would respect a refusal by the person. The family's wishes were explicitly considered more often than the wishes of the person with ID. CONCLUSION: Although respondents agree that the quality of life is highly important, the wishes of people with ID (especially of those with severe/profound ID) were often not considered in decisions about potentially burdensome medical interventions. PRACTICE IMPLICATIONS: To enhance the active involvement of people with ID in decision making we recommend that professionals integrate collaborative principles in decision making and make use of pictorial and easy reading resources.

Healthcare transition in persons with intellectual disabilities: general issues, the Maastricht model, and Prader-Willi syndrome.

In current healthcare, transitional healthcare is a very important and timely issue. Thanks to the major advances made in medical care and technology, many children with childhood onset diseases and/or genetic syndromes survive to adulthood. These children are at risk of not being provided with adequate healthcare as they reach adulthood. Healthcare transition is an essential part of healthcare provision, referred to as the shift from one type of healthcare to another. In Maastricht, we developed a transition/out clinic led by a medical doctor specialized in persons with intellectual disability (ID), together with a clinical geneticist. We aim to coordinate healthcare issues based on guidelines if available. Also questions concerning living, daily activities, relations, sexuality, and sterilization can be discussed. The aging process of persons with ID has been a topic of interest in recent years. Little is known about the aging process of people with specific syndromes, except for persons with Down syndrome. We present some data of a recent questionnaire study in persons with Prader-Willi syndrome. In only 50% in persons with a clinical diagnosis genetic test results could be reported. The majority of persons were obese. Diabetes mellitus, hypertension, skin problems, sleep apnea, and hormonal problems like osteoporosis and hypothyroidism were common. Psychiatric problems were frequent, especially in the persons with uniparental disomy. Osteoporosis and sleep apnoea seem to be underestimated. Further longitudinal research is necessary for a better understanding of the aging process in PWS.