Symptoms of Autism Spectrum Disorder (ASD) in individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): a systematic review

The prevalence of autism spectrum disorder (ASD) in many genetic disorders is well documented but not as yet in Mucopolysaccharidosis type III (MPS III). MPS III is a recessively inherited metabolic disorder and evidence suggests that symptoms of ASD present in MPS III. This systematic review examined the extant literature on the symptoms of ASD in MPS III and quality assessed a total of 16 studies. Results indicated that difficulties within speech, language and communication consistent with ASD were present in MPS III, whilst repetitive and restricted behaviours and interests were less widely reported. The presence of ASD-like symptoms can result in late diagnosis or misdiagnosis of MPS III and prevent opportunities for genetic counselling and the provision of treatments

Assessment and management of over-activity and sleep disorder in mucopolysaccharidoses

There is a growing awareness, based on both research and clinical studies, that abnormal sleep and circadian functioning are associated with the various forms of mucopolysaccharidoses (MPS), with sleep respiratory problems seemingly common in many forms of MPS. In the case of MPS III, there is evidence of syndrome-specific sleep disturbance related to an abnormal and possibly unique circadian rhythm. The presence of such patterns of sleep and activity has detrimental consequences for both the person with MPS and also invariably for her/his family and carers. On the basis of current evidence, routine assessment of sleep functioning is clearly warranted for all children with MPS III together with appropriate medical and behavioral interventions as required

Dialectical Behaviour Therapy [DBT] with people with intellectual disabilities: A systematic review and narrative analysis

Background There is mixed evidence regarding the effectiveness of psychological therapies for people with intellectual and developmental disorders. Although systematic reviews have supported the use of dialectical behaviour therapy with people with borderline personality disorder, there are no comparable reviews regarding DBT with people with intellectual and development disabilities. Methods Studies were identified using a systematic approach and were selected if they reported an intervention that included a DBT skills group and then assessed using the Evaluative Method for Determining Evidence Based Practice. Results Seven studies reported adaptations and outcomes of DBT for people with intellectual and development disabilities, four of which delivered full DBT programmes with three describing DBT skills groups. All studies were appraised with regard to methodological quality and the adaptations and results examined. Conclusions The findings indicate that DBT and DBT skills groups can be adapted for people with intellectual and development disabilities, but further high-quality research is needed to make conclusions about efficacy and effectiveness

The impact of masculinity upon men with psychosis who reside in secure forensic settings

Purpose Masculinity is a core cognitive structure that plays a central role in organising attitudinal and behavioural processes. Yet there is limited research focussing upon the meaning of masculinity for men who have a past history of violent behaviour, who experience psychotic phenomena and reside in secure forensic settings. The paper aims to discuss these issues. Design/methodology/approach Q-methodology was used to elucidate the factors regarding how men who experience psychotic phenomena perceive their masculinity. Ten participants from a secure forensic setting performed a 49-statement Q-sort task. Findings Principal component factor analysis with varimax rotation was performed on the ten completed Q-sorts which revealed a three-factor solution, accounting for 57 per cent of the variance in the data. The factors were interpreted and discussed under the following headings: “assured and asserting maverick”, “calm, confident, composed conformist” and “nurturing provider in the face of adversity”. This revealed that men with psychosis have different, predominantly pro-social explanatory frameworks for their representation of masculinity. Research limitations/implications This study revealed that men with psychosis have different, predominantly pro-social explanatory frameworks for their representation of masculinity. However, the study was limited by its lack of longitudinal assessment and the inclusion of a greater number of participants may have enhanced the representativeness and generalisability of the findings. Practical implications Therapeutic discussions in respect of masculinity itself could provide men with the opportunity to develop newer, more adaptive conceptualisations of themselves, help them develop greater self-awareness and understanding of the sources of their presenting concerns, which in turn could enhance a provisional formulation of their difficulties. It would also be potentially valuable to understand how these patterns of masculinity map onto coping, recovery style and service engagement. Furthermore, services could also benefit from becoming more aware of hospitalisation being a shameful perhaps stigmatizing time for men with psychosis. Social implications It may be useful for people working in healthcare settings to be aware of how the service users they support perceive their masculinity, so the existential and deeper needs of male patients are provided with enough consideration. This is an important point, as some individuals are often reluctant or neglect to enquire about individual’s psychotic experiences and gender identification. Originality/value Although forensic psychiatric care is primarily populated by men who have committed violent acts, there is a limited research focussing upon the meaning of masculinity in this context. This is in spite of evidence which shows that maladaptive perceptions of masculinity can be reinforced during time spent residing in secure settings. The cultural constructs of masculinity and their respective impact upon the diagnosis, management and outcome of psychosis has also received little attention. Therefore, this research represents new and significant contributions to the field

The nature and prevalence of catatonic symptoms in young people with autism

Background A proportion of young people with autism are reported to show catatonic-like symptoms in adolescence. The aetiology and prevalence of such presentations is unknown but include a set of behaviours that can best be described as attenuated. Method The current study empirically investigated the presence and nature of such attenuated behaviours in children and adolescents with autism using a newly developed 34-item third party report measure, the Attenuated Behaviour Questionnaire. Caregivers or parents of young people with autism reported on the presentation of symptoms via the online completion of the Attenuated Behaviour Questionnaire and two established clinical measures of repetitive behaviour and depression. Results Initial results indicate that the Attenuated Behaviour Questionnaire is a workable clinical measure in this population with a degree of discriminant validity with regard to catatonia. Attenuated behaviour indicative of catatonia was relatively common in young people with autism with up to 20.2% having an existing diagnosis of catatonia and evidence of a relationship between attenuated behaviours and measures of depression and repetitive and restricted behaviours. Conclusion Catatonic symptoms are more prevalent in young people with autism than previously thought, and the Attenuated Behaviour Questionnaire has potential as a clinical and research tool

Social functioning and behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome]

Background: Mucopolysaccharidosis type IH (MPS-IH) [Hurlers Syndrome] is a developmental genetic disorder characterised by severe physical symptoms and cognitive decline. This study aimed to investigate the behavioural phenotype of MPS-IH treated by haematopoietic cell transplantation, focusing on social functioning and sleep. Parental stress was also measured. Methods: Participants were 22 children with MPS-IH (mean age 9 years 1 month), of whom 10 were male (45%). Parents completed the Social Responsiveness Scale (SRS), Child Behaviour Checklist (CBCL), Children’s Sleep Habit Questionnaire and Parent Stress Index, Short Form (PSI-SF). Results: Twenty-three per cent of children with MPS-IH scored in the severe range of the SRS, suggesting significant difficulties in social functioning. Children with MPS-IH were more than 30 times more likely to receive scores in the severe range than typically developing children. Thirty-six per cent scored in the mild-to-moderate range, suggesting milder, but marked, difficulties in social interaction. Although children with MPS-IH did not show significantly higher rates of internalising, externalising or total behaviour problems than the normative sample, they received scores that were significantly higher on social, thought and attention problems and rule-breaking behaviour, and all the competence areas of the CBCL. Parents of children with MPS-IH did not score significantly higher on parental stress than parents in a normative sample. Conclusions: Parents of children with MPS-IH rate their children as having problems with social functioning and various areas of competence more frequently than previously thought, with implications for clinical support

The experience of non-epileptic attack disorder (NEAD) : a repertory grid study examining NEAD patients' construal of their disorder

Non-epileptic attack disorder (NEAD) is a disorder resembling epilepsy, but is caused by psychological processes rather than neurological disturbance. Approximately 15-30% of patients referred to specialist epilepsy centres have NEAD as opposed to epilepsy. Research into NEAD has largely focused on the differential diagnosis of NEAD and identifying risk factors, such as abuse and psychopathology. Whilst this is important, there remains a paucity of research exploring the processes involved in the development and maintenance of NEAD, which contributes to the lack of research investigating treatment effectiveness and prognosis. Furthermore, there remains a paucity of research investigating patient perceptions and experiences, despite such factors influencing prognosis. Subsequently, the current study used repertory grid methodology to explore the largely overlooked domain of how individuals with NEAD construe their world (i.e. how they perceive themselves, others and their disorder). Twelve individuals with a diagnosis of NEAD were recruited from a clinical neuropsychology department within North-West England. This study was an exploratory, cross-sectional study using the repertory grid technique to explore the participants' construals of themselves and others, including construals of their ideal self and self before NEAD. Based on personal construct theory, this method aimed to overcome some of the methodological limitations inherent within NEAD research, by minimising researcher bias, exploring implicit and explicit perceptions and exploring both individual and group perceptions.A case series of grids was presented. Individual and multiple analyses were used to explore participants' construct systems. A data driven approach enabled hypotheses to be developed from the individual grids, which were explored via a composite grid and SocioNet analysis. Despite some themes being identified, the findings revealed the uniqueness of the participants' ways of construing, including a lack of shared understanding amongst the participants. The participants were unhappy with their current self and no longer construed themselves to be the person they were before the onset of NEAD. They also construed themselves as being distinct and/or alienated from others, although some participants construed positive consequences as a result of their NEAD. Whilst most participants agreed with their NEAD diagnosis 'label', they were less accepting of the psychological factors that characterise the diagnosis. Finally, physical health difficulties were construed as being preferable to experiencing mental health difficulties. The findings were discussed in relation to previous research and theoretical implications were highlighted. Clinical implications were highlighted, particularly how the current diagnostic and treatment system for individuals with NEAD may threaten their self-identity. Methodological considerations and recommendations for future research were also suggested. The repertory grid technique was found to be a useful and effective method to investigate the subjective perceptions of individuals with NEAD.EThOS - Electronic Theses Online ServiceLisa MacRae, 3.53 Simon Building, The University of Manchester, Brunswick Street, Manchester, M13 9PLGBUnited Kingdo

The quality of research exploring in-session measures of CBT competence: a systematic review

Background: Cognitive behavioural therapy (CBT) is in high demand due to its strong evidence base and cost effectiveness. To ensure CBT is delivered as intended in research, training and practice, fidelity assessment is needed. Fidelity is commonly measured by assessors rating treatment sessions, using CBT competence scales (CCSs). Aims: The current review assessed the quality of the literature examining the measurement properties of CCSs and makes recommendations for future research, training and practice. Method: Medline, PsychINFO, Scopus and Web of Science databases were systematically searched to identify relevant peer-reviewed, English language studies from 1980 onwards. Relevant studies were those that were primarily examining the measurement properties of CCSs used to assess adult 1:1 CBT treatment sessions. The quality of studies was assessed using a novel tool created for this study, following which a narrative synthesis is presented. Results: Ten studies met inclusion criteria, most of which were assessed as being ‘fair’ methodological quality, primarily due to small sample sizes. Construct validity and responsiveness definitions were applied inconsistently in the studies, leading to confusion over what was being measured. Conclusions: Although CCSs are widely used, we need to pay careful attention to the quality of research exploring their measurement properties. Consistent definitions of measurement properties, consensus about adequate sample sizes and improved reporting of individual properties are required to ensure the quality of future research

Assessment of sleep in children with mucopolysaccharidosis Type III

Sleep disturbances are prevalent in mucopolysaccharidosis Type III (MPS III), yet there is a lack of objective, ecologically valid evidence detailing sleep quantity, quality or circadian system. Eight children with MPS III and eight age-matched typically developing children wore an actigraph for 7–10 days/nights. Saliva samples were collected at three time-points on two separate days, to permit analysis of endogenous melatonin levels. Parents completed a sleep questionnaire and a daily sleep diary. Actigraphic data revealed that children with MPS III had significantly longer sleep onset latencies and greater daytime sleep compared to controls, but night-time sleep duration did not differ between groups. In the MPS III group, sleep efficiency declined, and sleep onset latency increased, with age. Questionnaire responses showed that MPS III patients had significantly more sleep difficulties in all domains compared to controls. Melatonin concentrations showed an alteration in the circadian system in MPS III, which suggests that treatment for sleep problems should attempt to synchronise the sleep-wake cycle to a more regular pattern. Actigraphy was tolerated by children and this monitoring device can be recommended as a measure of treatment success in research and clinical practice

Care mapping in clinical neuroscience settings: Cognitive impairment and dependency.

Person-centred care can improve the well-being of patients and is therefore a key driver in healthcare developments in the UK. The current study aims to investigate the complex relationship between cognitive impairment, dependency and well-being in people with a wide range of acquired brain and spinal injuries. Sixty-five participants, with varied acquired brain and spinal injuries, were selected by convenience sampling from six inpatient clinical neuroscience settings. Participants were observed using Dementia Care Mapping - Neurorehabilitation (DCM-NR) and categorised based on severity of cognitive impairment. A significant difference in the behaviours participants engaged in, their well-being and dependency was found between the severe cognitive impairment group and the mild, moderate or no cognitive impairment groups. Dependency and cognitive impairment accounted for 23.9% of the variance in well-ill-being scores and 17.2% of the variance in potential for positive engagement. The current study highlights the impact of severe cognitive impairment and dependency on the behaviours patients engaged in and their well-being. It also affirms the utility of DCM-NR in providing insights into patient experience. Consideration is given to developing DCM-NR as a process that may improve person-centred care in neuroscience settings