Observing the behaviour and interactions of adults with congenital deafblindness living in community residences

Background Adults with congenital deafblindness (CDB) have received little attention from researchers. In this study we examined the nature of interactions between adults with CDB and the staff who mediate their support, and investigated the reliability of an observation coding system, originally designed for observing adults with severe intellectual disability.

Method The behaviours of 9 adults with CDB, including their interactions with support staff from 2 community residences, were recorded and subsequently coded by 2 observers.

Results Interrater reliability, measured using Cohen's k, was variable across the coding system. Adults with CDB were predominantly observed to be disengaged, with few observations of engagement according to the coding schedule's definition of engagement. Interactions between the residents and support staff were rare.

Conclusion The introduction of interventions designed for staff to promote resident engagement in social interaction is recommended.

Content validity of visual analog scales to assess symptom severity of acute angioedema attacks in adults with hereditary angioedema : an interview study

Background: Hereditary angioedema (HAE) is a rare, debilitating, potentially life-threatening condition characterized by recurrent acute attacks of edema of the skin, face/upper airway, and gastrointestinal and urogenital tracts. During a laryngeal attack, people with HAE may be at risk of suffocation, while other attacks are often associated with intense pain, disfigurement, disability, and/or vomiting. The intensity of some symptoms is known only to the person experiencing them. Thus, interview studies are needed to explore such experience and patient-reported outcome measures (PROMs) are required for systematic assessment of symptoms in the clinical setting and in clinical trials of treatments for acute HAE attacks.

Objective: The aim of this interview study was to assess the content validity and suitability of four visual analog scale (VAS) instruments for use in clinical studies. The VAS instruments were designed to assess symptoms at abdominal, oro-facial-pharyngeal-laryngeal, peripheral, and urogenital attack locations. This is the first known study to report qualitative data about the patient's experience of the rare disorder, HAE.

Methods: Semi-structured exploratory and cognitive debriefing interviews were conducted with 27 adults with a confirmed clinical/laboratory diagnosis of HAE (baseline plasma level of functional plasma protein C1 esterase inhibitor [C1INH] <50% of normal without evidence for acquired angioedema). There were 17 participants from the US and 10 from Italy, with mean age 42.5 (SD 14.5) years, range 18–72 years, mean HAE duration 21.3 (SD 14.1) years, range 1–45 years, 67% female, and 44% VAS-naïve. Experience of acute angioedema attacks was first explored, noting spontaneous mentions by participants of HAE symptomatology. Cognitive debriefing of the VAS instruments was undertaken to assess the suitability, comprehensibility, and relevance of the VAS items. Asymptomatic participants completed the VAS instruments relevant to their angioedema experience, reporting as if they were experiencing an acute angioedema attack at the time. Interviews were conducted in the clinic setting in the US and Italy over an 8-month period.

Results: Participants mentioned spontaneously almost all aspects of acute angioedema attacks covered by the four VAS instruments, thus providing strong support for inclusion of nearly all VAS items, with no important symptoms missing. Predominant symptoms found to be associated with acute angioedema attacks were edema and pain, and there was evidence of varying degrees of disruption to everyday activities supporting the inclusion of an overall severity item reflecting the disabling effects of HAE symptoms. VAS item wording was understood by participants.

Conclusion: This interview study explored and reported the patient experience of HAE attacks. It demonstrated the content validity of the four anatomical location HAE VAS instruments and their suitability for use in clinical trials of recombinant human C1INH (rhC1INH) treatment for ascertaining trial participants' assessments of the severity of acute angioedema symptoms.

Masculinity theory in applied research with men and boys with intellectual disability

Researchers in intellectual disability have had limited theoretical engagement with mainstream theories of masculinity. In this article, the authors consider what mainstream theories of masculinity may offer to applied research on, and hence to therapeutic interventions with, men and boys with intellectual disability. An example from one research project that explored male sexual health illustrates how using masculinity theory provided greater insight into gendered data. Finally, we discuss the following five topics to illustrate how researchers might use theories of masculinity: (a) fathering, (b) male physical expression, (c) sexual expression, (d) men's health, and (e) underweight and obesity. Theories of masculinity offer an additional framework to analyze and conceptualize gendered data; we challenge researchers to engage with this body of work.

Exploring the later life relationship between adults with cerebral palsy and their non-disabled siblings

 Purpose: Adults with moderate or severe cerebral palsy often require significant lifetime support from family and formal services. The aim of this study was to use a life course approach to explore how previous life experiences impact on the later life relationships of people with moderate to severe cerebral palsy aged 40 years and over and their non-disabled siblings. Method: Twelve adults with moderate to severe cerebral palsy and 16 of their non-disabled siblings were interviewed twice to explore their relationships. Constructivist grounded theory method was used to analyse the data. Results: Four themes were identified as important in understanding these later life sibling relationships: sharing childhood experiences, contact in adulthood, diminishing parental role and increasing support needs. Conclusions: The life course approach indicated that siblings' growing up together was important for the development and maintenance of emotional closeness later in life. Emotional closeness and familial obligation were important factors in motivating siblings with and without cerebral palsy to maintain or re-establish contact with each other in adulthood. Maintenance of sibling relationships in later life is dependent on health, proximity and the ability to keep in contact with each other.Implications for RehabilitationAs adults with severe cerebral palsy live longer, their relationships with non-disabled siblings often take on increased importance and particularly as their parents may be no longer able to provide support.Service providers have a role in helping ageing siblings with and without disability to maintain and build their relationships, for example, by supporting geographically distant siblings to keep in touch.Service providers have a role in supporting the person with a disability and their siblings to make plans for the future. © 2014 Informa UK Ltd.

Short-Term Effects of the Use of Non-Rigid Tools for Postural Control by Adults with Intellectual Disabilities

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Short-Term Effects of the Use of Non-Rigid Tools for Postural Control by Adults with Intellectual Disabilities

We tested the short-term effects of a nonrigid tool, identified as an "anchor system" (e.g., ropes attached to varying weights resting on the floor), on the postural stabilization of blindfolded adults with and without intellectual disabilities (ID). Participants held a pair of anchors one in each hand, under three weight conditions (250 g, 500 g and 1,000 g), while they performed a restricted balance task (standing for 30 s on a balance beam placed on top of a force platform). These conditions were called anchor practice trials. Before and after the practice trials, a condition without anchors was tested. Control practice groups, who practiced blocks of trials without anchors, included individuals with and without ID. The anchor system improved subjects' balance during the standing task, for both groups. For the control groups, the performance of successive trials in the condition without the anchor system showed no improvement in postural stability. The individuals with intellectual disability, as well as their peers without ID, used the haptic cues of nonrigid tools (i.e., the anchor system) to stabilize their posture, and the short-term stabilizing effects appeared to result from their previous use of the anchor system.

Inflammatory and Immunological parameters in adults with Down syndrome

Abstract Background The increase in life expectancy within the general population has resulted in an increasing number of elderly adults, including patients with Down syndrome (DS), with a current life expectancy of about 50 years. We evaluate the parameters of humoral and cellular immune response, the quantitative expression of the regulator of calcineurin1 gene (RCAN1) and the production of cytokines. The study group consisted of adults DS (n = 24) and a control group with intellectual disability without Down syndrome (ID) (n = 21) and living in a similar environmental background. It was evaluated serology, immunophenotyping, the quantitative gene expression of RCAN1 and the production of cytokines. Results In the DS group, the results showed an increase in NK cells, CD8, decreased CD19 (p < 0.05) and an increase spontaneous production of IFNgamma, TNFalpha and IL-10 (p < 0.05). There was not any difference in RCAN1 gene expression between the groups. Conclusions These data suggest a similar humoral response in the two groups. The immunophenotyping suggests sign of premature aging of the immune system and the cytokine production show a proinflammatory profile.

Surgical technique: The capsular arthroplasty: a useful but abandoned procedure for young patients with developmental dysplasia of the hip

Codivilla in 1901, Hey Groves in 1926, and Colonna in 1932 described similar capsular arthroplasties--wrapping the capsule around the femoral head and reducing into the true acetabulum--to treat completely dislocated hips in children with dysplastic hips. However, these procedures were associated with relatively high rates of necrosis, joint stiffness, and subsequent revision procedures, and with the introduction of THA, the procedure vanished despite some hips with high functional scores over periods of up to 20 years. Dislocated or subluxated hips nonetheless continue to be seen in adolescents and young adults, and survival curves of THA decrease faster for young patients than for patients older than 60 years. Therefore, joint preservation with capsular arthroplasty may be preferable if function can be restored and complication rates reduced.