Rigidity in routines and the development of resistance to change in individuals with Prader-Willi syndrome.

BACKGROUND: Individuals with Prader-Willi syndrome (PWS) commonly show debilitating resistance to change, which has been linked to cognitive deficits in task switching. Anecdotal reports suggest that exposure to flexibility in routines during development may be beneficial for limiting subsequent resistance to change in people with PWS, which is consistent with a beneficial role of such exposure on the development of task switching, highlighted in typical children. Here, we aim to investigate the development of resistance to change in individuals with PWS and hypothesise that exposure to increased rigidity in routines will be associated with increased subsequent resistance to change. METHODS: An author-compiled informant report interview and two previously validated questionnaires were administered to the caregivers of 10 individuals with PWS (5-23 years). The interview examined rigidity in routines and resistance to change across life stages defined by easily distinguishable events (before school, during primary school, during secondary school, after school, currently), using open-ended and structured yes/no and 5-point Likert questions. Open-ended data were coded using an author-compiled system. Responses from two additional informants and data from the questionnaires were used to assess inter-informant reliability and concurrent validity of the structured questions. RESULTS: The validity of the interview was supported by acceptable inter-rater reliability of the open-ended coding system and inter-informant reliability, internal consistency and concurrent validity of structured questions. Descriptive analyses of ratings of behaviour change showed a pattern of increasing resistance to change over the life course for the four oldest individuals, who had all been exposed to substantial rigidity in routines before and during primary school. Furthermore, only one individual - currently in primary school - was exposed to very little rigidity in routines before and during primary school, and he had showed a decrease in resistance to change after entering primary school. Open-ended data showed that more individuals currently evidencing little resistance to change had been exposed to parent or self-imposed flexibility in routines, than those currently evidencing substantial resistance to change. However, correlational analyses on rigidity and resistance to change ratings highlighted the possibility that rigidity during primary school is most relevant for developing resistance to change. Finally, open-ended data emphasised an important beneficial role of rigidity in routines for limiting the current challenging behaviour of individuals with high resistance to change. CONCLUSION: Because task switching appears to evidence a period of high developmental sensitivity during early primary school years, we propose that this period may represent a critical time when increasing flexibility in the routines of children with PWS could limit the development of resistance to change. However, a careful balance would need to be struck, given the apparent benefit of rigid routines on current behaviour. Further work in this area is much needed.

The relationship between specific cognitive impairment and behaviour in Prader-Willi syndrome.

BACKGROUND: Individuals with Prader-Willi syndrome (PWS) have been shown to demonstrate a particular cognitive deficit in attention switching and high levels of preference for routine and temper outbursts. This study assesses whether a specific pathway between a cognitive deficit and behaviour via environmental interaction can exist in individuals with PWS. METHODS: Four individuals with PWS participated in a series of three single-case experiments including laboratory-based and natural environment designs. Cognitive (computer-based) challenges placed varying demands on attention switching or controlled for the cognitive demands of the tasks while placing no demands on switching. Unexpected changes to routines or expectations were presented in controlled games, or imposed on participants' natural environments and compared with control conditions during which no unexpected changes occurred. Behaviour was observed and heart rate was measured. RESULTS: Participants showed significantly increased temper outburst related behaviours during cognitive challenges that placed demands on attention switching, relative to the control cognitive challenges. Participants showed significantly increased temper outburst related behaviours when unexpected changes occurred in an experimental or the natural environment compared with when no changes occurred. CONCLUSIONS: Difficult behaviours that could be triggered reliably in an individual by a specific cognitive demand could also be triggered via manipulation of the environment. Results suggest that a directional relationship between a specific cognitive deficit and behaviour, via environmental interaction, can exist in individuals with PWS.

Prevalence, phenomenology, aetiology and predictors of challenging behaviour in Smith-Magenis syndrome.

BACKGROUND: The prevalence, phenomenology aetiology and correlates of four forms of challenging behaviour in 32 children and adults with Smith-Magenis syndrome (SMS) were investigated. METHODS: Cognitive assessments, questionnaires and semi-structured interviews were used to gather data on intellectual disability, verbal and physical aggression, destructive behaviour and self-injury and on characteristics known to be associated with aggression. RESULTS: Aggression in SMS was more prevalent (87%), but not more severe than aggression in contrast groups. Aggressive behaviour was more frequently associated with environmental contingencies (e.g. attention, escape and access to tangibles) than self-injury and destructive behaviours. Severity of challenging behaviours was associated with high impulsivity. CONCLUSION: Aggression is seen in the majority of people with SMS. Results suggest that behavioural disinhibition and operant social reinforcement are associated with the manifestation of aggression.

Skin Picking in People with Prader-Willi Syndrome: Phenomenology and Management.

Skin picking is highly prevalent in people with Prader-Willi syndrome (PWS). This study addressed the temporal (frequency, duration) and wider characteristics (e.g. type of skin picked, apparent motivations, or management strategies) of skin picking to inform intervention strategies. Nineteen parents/carers who observe skin picking shown by the person they care for completed a semi-structured interview. Results were consistent with previous research but advanced the field by finding that most participants picked skin with an imperfection and that parents/carers most commonly use distraction as a management strategy. Interventions that are behavioural, support emotion regulation and/ or are used in the typically developing population are therefore likely to be beneficial for future research.

A specific pathway can be identified between genetic characteristics and behaviour profiles in Prader-Willi syndrome via cognitive, environmental and physiological mechanisms.

BACKGROUND: Behavioural phenotypes associated with genetic syndromes have been extensively investigated in order to generate rich descriptions of phenomenology, determine the degree of specificity of behaviours for a particular syndrome, and examine potential interactions between genetic predispositions for behaviour and environmental influences. However, relationships between different aspects of behavioural phenotypes have been less frequently researched and although recent interest in potential cognitive phenotypes or endophenotypes has increased, these are frequently studied independently of the behavioural phenotypes. METHOD: Taking Prader-Willi syndrome (PWS) as an example, we discuss evidence suggesting specific relationships between apparently distinct aspects of the PWS behavioural phenotype and relate these to specific endophenotypic characteristics. RESULTS: The framework we describe progresses through biological, cognitive, physiological and behavioural levels to develop a pathway from genetic characteristics to behaviour with scope for interaction with the environment at any stage. CONCLUSIONS: We propose this multilevel approach as useful in setting out hypotheses in order to structure research that can more rapidly advance theory.