Developing a best practice model for partnership practice between specialist palliative care and intellectual disability services: a mixed methods study

Background: The lack of access to good quality palliative care for people with intellectual disabilities is highlighted in the international literature. In response, more partnership practice in end-of-life care is proposed. 
Aim: This study aimed to develop a best practice model to guide and promote partnership practice between specialist palliative care and intellectual disability services. 
Design: A mixed methods research design involving two phases was used, underpinned by a conceptual model for partnership practice. 
Setting/participants: Phase 1 involved scoping end-of-life care to people with intellectual disability, based on self-completed questionnaires. In all, 47 of 66 (71.2%) services responded. In Phase 2, semi-structured interviews were undertaken with a purposive sample recruited of 30 health and social care professionals working in intellectual disability and palliative care services, who had provided palliative care to someone with intellectual disability. For both phases, data were collected from primary and secondary care in one region of the United Kingdom. 
Results: In Phase 1, examples of good practice were apparent. However, partnership practice was infrequent and unmet educational needs were identified. Four themes emerged from the interviews in Phase 2: challenges and issues in end-of-life care, sharing and learning, supporting and empowering and partnership in practice. 
Conclusion: Joint working and learning between intellectual disability and specialist palliative care were seen as key and fundamental. A framework for partnership practice between both services has been developed which could have international applicability and should be explored with other services in end-of-life care.

The importance of understanding the behavioural phenotypes of genetic syndromes associated with intellectual disability

Behavioural phenotype research is of benefit to a large number of children with genetic syndromes and associated developmental delay. This article presents an overview of this research area and demonstrates how understanding pathways between gene disorders and behaviour can inform our understanding of the difficulties individuals with genetic syndromes and developmental delay experience, including self-injurious behaviour, social exploitation, social anxiety, social skills deficits, sensory differences, temper outbursts and repetitive behaviours. In addition, physical health difficulties and their interaction with behaviour are considered. The article demonstrates the complexity involved in assessing a child with a rare genetic syndrome.

Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome

X-linked lymphoproliferative syndrome (XLP) is an inherited immunodeficiency characterized by increased susceptibility to Epstein-Barr virus (EBV). In affected males, primary EBV infection leads to the uncontrolled proliferation of virus-containing B cells and reactive cytotoxic T cells, often culminating in the development of high-grade lymphoma. The XLP gene has been mapped to chromosome band Xq25 through linkage analysis and the discovery of patients harboring large constitutional genomic deletions. We describe here the presence of small deletions and intragenic mutations that specifically disrupt a gene named DSHP in 6 of 10 unrelated patients with XLP. This gene encodes a predicted protein of 128 amino acids composing a single SH2 domain with extensive homology to the SH2 domain of SHIP, an inositol polyphosphate 5-phosphatase that functions as a negative regulator of lymphocyte activation. DSHP is expressed in transformed T cell lines and is induced following in vitro activation of peripheral blood T lymphocytes. Expression of DSHP is restricted in vivo to lymphoid tissues, and RNA in situ hybridization demonstrates DSHP expression in activated T and B cell regions of reactive lymph nodes and in both T and B cell neoplasms. These observations confirm the identity of DSHP as the gene responsible for XLP, and suggest a role in the regulation of lymphocyte activation and proliferation. Induction of DSHP may sustain the immune response by interfering with SHIP-mediated inhibition of lymphocyte activation, while its inactivation in XLP patients results in a selective immunodeficiency to EBV.

Physical map and cosmid contig encompassing a new interstitial deletion of the X-linked lymphoproliferative syndrome region

The X-linked lymphoproliferative syndrome (XLP) is an inherited immuno-deficiency to Epstein-Barr virus infection that has been mapped to chromosome Xq25. Molecular analysis of XLP patients from ten different families identified a small interstitial constitutional deletion in 1 patient (XLP-D). This deletion, initially defined by a single marker, DF83, known to map to interval Xq24-q26.1, is nested within a previously reported and much larger deletion in another XLP patient (XLP-739). A cosmid minilibrary was constructed from a single mega-YAC and used to establish a contig encompassing the whole XLP-D deletion and a portion of the XLP-739 deletion. Based on this contig, the size of the XLP-D deletion can be estimated at 130 kb. The identification of this minimal deletion, within which at least a portion of the XLP gene is likely to reside, should greatly facilitate efforts in isolating the gene.

Ethics in sexual behavior assessment and support for people with intellectual disability

Sexuality is an issue of equality, rights, and ethics, especially when it comes to the sexuality of people with intellectual and developmental disabilities. This paper offers a discussion of ethics related to the assessment and intervention supports of sexual behavior in people with intellectual and developmental disabilities. A brief history of sexuality and disability is presented. Issues of sexual abuse of people with intellectual and developmental disabilities and the laws related to sterilization, pornography, sexual rights, and consent are explored. Finally, specific ethical concerns related to intervention by behavior analysts in the realm of sexual behavior are examined.

Palliative Medicine:Scoping the level and extent of service provision to people with intellectual disability at end of life Poster Presentation

Background: Concerns exist about the end of life care
that people with intellectual disabilities receive. This population
are seldom referred to palliative care services and
inadequate data sets exist about their place of death.
Aim: To scope the extent of service provision to people
with intellectual disabilities at the end of life by specialist
palliative care and intellectual disability services in one
region of the United Kingdom.
Methods: As part of a larger doctoral study a regional survey
took place of a total sample (n=66) of specialist palliative
care and intellectual disability services using a postal
questionnaire containing forty items. The questionnaire
was informed by the literature and consultation with an
expert reference group. Data were analysed using SPSS to
obtain descriptive statistics.
Results: A total response rate from services of 71.2%
(n=47) was generated. Findings showed a range of experience
among services in providing end of life care to people
with intellectual disabilities in the previous five years, but
general hospitals were reported the most common place of
death. A lack of accessible information on end of life care
for people with learning disabilities was apparent. A few
services (n=14) had a policy to support this population to
make decisions about their care or had used adapted Breaking
Bad News guidelines (n=5) to meet their additional
needs. Both services recognised the value of partnership
working in assessing and meeting the holistic needs of
people with intellectual disabilities at end of life.
Conclusions: A range of experience in caring for people
with intellectual disabilities was present across services,
but more emphasis is required on adapting communication
for this population to facilitate them to participate in their
care. These findings could have international significance
given that studies in other countries have highlighted a
need to widen access to palliative care for this group of
people.

Associations between repetitive questioning, resistance to change, temper outbursts and anxiety in Prader-Willi and Fragile-X syndromes

The behavioural phenotypes of Prader-Willi (PWS) and Fragile-X (FraX) syndromes both comprise repetitive behaviours with differences between the profiles. In this study we investigated the context and antecedents to the repetitive behaviours and the association with other behavioural phenotypic characteristics in order to generate testable hypotheses regarding the cause of the behaviours.

The parents or carers of 46 children with PWS (mean age 14.1 years; 20 girls), and 33 boys with FraX (mean age 13.11 years) were interviewed about their children's repetitive behaviour in a semi-structured format.

Children showed negative emotional behaviour (PWS: 87.0%; FraX: 79.4%) and repetitive questions (PWS: 78.3%; FraX: 73.5%) following changes in routine or expectations. Significantly more temper outbursts were reported to follow changes in children with PWS (89.1%) compared with boys with FraX (41.2%) (chi(2) = 20.93; P <0.001). Anxiety that was frequently associated with repetitive and self-injurious behaviours in boys with FraX, followed changes in significantly more boys with FraX (76.5%) compared with children with PWS (6.5%) (chi(2) = 43.19, P <0.001).

On the basis of these reports and existing literature, we hypothesise that decreases in predictability are aversive to children with PWS and FraX. We also hypothesise that these children have a propensity to show a syndrome-related pattern of behaviour (temper outbursts in PWS and displays of anxiety in FraX) when an event in the environment has this aversive property. We hypothesise that questions may be reinforcing to children in their own right by increasing the predictability of the environment. We outline how a specific cognitive deficit in the endophenotypes associated with both PWS and FraX could be investigated as a potential explanation for the hypothesised aversive properties of decreased predictability.