Jane Petty

Inter-rater reliability of case-note audit: A systematic review

Objective: The quality of clinical care is often assessed by retrospective examination of case-notes (charts, medical records). Our objective was to determine the inter-rater reliability of case-note audit. Methods: We conducted a systematic review of the inter-rater reliability of case-note audit. Analysis was restricted to 26 papers reporting comparisons of two or three raters making independent judgements about the quality of care. Results: Sixty-six separate comparisons were possible, since some papers reported more than one measurement of reliability. Mean kappa values ranged from 0.32 to 0.70. These may be inflated due to publication bias. Measured reliabilities were found to be higher for case-note reviews based on explicit, as opposed to implicit, criteria and for reviews that focused on outcome (including adverse effects) rather than process errors. We found an association between kappa and the prevalence of errors (poor quality care), suggesting alternatives such as tetrachoric and polychoric correlation coefficients be considered to assess inter-rater reliability. Conclusions: Comparative studies should take into account the relationship between kappa and the prevalence of the events being measured.

Psychological Well-Being in Parents of Children with Angelman, Cornelia de Lange and Cri du Chat Syndromes.

BACKGROUND The current study focuses on mothers and fathers of children with three rare genetic syndromes that are relatively unexplored in terms of family experience: Angelman syndrome, Cornelia de Lange syndrome and Cri du Chat syndrome. METHOD Parents of children with Angelman syndrome (n =15), Cornelia de Lange syndrome (n = 16) and Cri du Chat syndrome (n = 18), and a matched comparison group of parents of children with autism and intellectual disabilities (n = 20) completed questionnaires on both psychological distress (stress, anxiety, depression) and positive psychological functioning. RESULTS Parents of children with Angelman syndrome consistently reported the highest levels of psychological distress, and parents of children with Cornelia de Lange syndrome the lowest, with parents of children with Cri du Chat syndrome and autism scoring between these two. Positive psychological functioning was similar across the four aetiology groups. CONCLUSIONS Parents of children with rare genetic syndromes are at risk for high levels of stress and mental health problems. Methodological issues and the practical applications of these results are discussed.

Relationship Among Challenging, Repetitive, and Communicative Behaviors in Children With Severe Intellectual Disabilities

We used experimental and descriptive functional analyses and lag sequential analyses to examine the functional and temporal relationship among the self-injurious (SIB), potentially injurious, repetitive, challenging, and pragmatic communicative behaviors of 6 children with intellectual disabilities. Functional analyses revealed social function for SIB, potentially injurious, and repetitive behaviors across 5, 4, and 5 participants, respectively. Sixteen functionally equivalent response classes were identified across participants using both experimental and naturalistic observation data. Repetitive, potentially injurious, and SIB behaviors were significantly temporally associated, and pragmatic communicative behaviors were strongly temporally associated with challenging behaviors. The importance of the temporal and functional relationship between imperative communicative acts and challenging behavior is discussed.

“You Have to Sit and Explain it All, and Explain Yourself.” Mothers’ Experiences of Support Services for Their Offspring with a Rare Genetic Intellectual Disability Syndrome

The experiences of mothers of adult offspring with Angelman, Cornelia de Lange, or Cri du Chat syndrome have not been previously explored in research. The current study focuses on experiences with social and medical services and the impact the rareness of an adult offspring’s syndrome has on the experiences of mothers. Eight mothers of adults with Angelman, Cornelia de Lange, or Cri du Chat syndrome were interviewed. Thematic Content Analysis was used to interpret the interviews. Four themes emerged from the analysis: (i) The rarity of their offspring’s syndrome, (ii) Uneven medical and social care service provision, (iii) The inertia of social care services, and (iv) Mothers as advocates. Mothers felt that the rareness of their offspring’s syndrome did not affect experiences with social care services, but did affect access to medical services and some aspects of day-to-day living. Accessing appropriate social care services was reported to be a lengthy and complex process. These data may help inform care service providers about how best to support adults with rare genetic syndromes and their families.

Social Behavior and Characteristics of Autism Spectrum Disorder in Angelman, Cornelia de Lange, and Cri du Chat Syndromes

We evaluated autism spectrum disorder (ASD) characteristics and social behavior in Angelman (AS; n  =  19; mean age  = 10.35 years), Cornelia de Lange (CdLS; n  =  15; mean age  = 12.40 years), and Cri du Chat (CdCS, also known as 5 p-syndrome; n  =  19; mean age  =  8.80 years) syndromes. The proportion of individuals meeting the ASD cutoff on the Social Communication Questionnaire was significantly higher in the AS and CdLS groups than in the CdCS group (p < .01). The groups demonstrated divergent social behavior profiles during social conditions in which adult availability, adult familiarity, and social demand were manipulated. Social enjoyment was significantly heightened in AS, whereas social approaches were heightened in individuals with CdCS. Social motivation, social communication, and enjoyment were significantly lower in CdLS. The findings highlight the importance of detailed observation when evaluating ASD and social behavior in genetic syndromes.

Self-injurious behaviour in individuals with intellectual disabilities

Purpose of review In this paper we review literature published in 2004 on self-injurious behaviour in individuals with intellectual disabilities. Reviewed studies examine phenomenology and comorbidity, pharmacological and other interventions, genetic syndromes, and behavioural assessment and treatment. Recent findings Key findings include the possible association between self-injury and impulse control and stereotyped behaviours. Reports on the use of pharmacological interventions provide little evidence for the use such interventions, although the findings of studies on naltrexone seem stronger. In the behavioural phenotype literature the predictors of self-injury in Prader-Willi syndrome are becoming more refined. The behaviour analysis literature reports further development of assessment methodology to cater for idiosyncratic functions and low-rate behaviours. Summary Developments in the fields of applied behaviour analysis and genetic syndromes highlight the importance of tailored assessments and interventions. Evidence from the pharmacological literature suggests that although significant numbers of individuals are prescribed such interventions, the research evidence for their efficacy is, at best, weak.

Correlates of self-injurious, aggressive and destructive behaviour in children under five who are at risk of developmental delay

AIM Several behavioural correlates of self-injury, aggression and destructive behaviour have been identified in children and young adults with intellectual disabilities. This cross-sectional study aimed to further explore these correlates in very young children with developmental delay. METHODS Parents of 56 children (40 male) under the age of five years (mean age 2 years 10 months) completed a questionnaire about their childs behaviour and the presence of behavioural correlates, including repetitive, over-active or impulsive behaviour and more severe developmental delay. RESULTS Parents reported very high prevalence of self-injurious, aggressive and destructive behaviour: 51%, 64% and 51%, respectively. A binary logistic regression revealed that a higher score on a measure of overactive and impulsive behaviour significantly predicted the presence of destructive behaviour. A multiple linear regression revealed that both repetitive behaviour and number of health problems approached significance as independent predictors of severe self-injurious behaviour. INTERPRETATION Despite the very small sample, several factors emerged as potential predictors of self-injurious, aggressive and destructive behaviour. These findings support the need for further investigation in a larger sample. Confirmation in this age group could help guide the development of targeted early intervention for these behaviours by identifying behavioural risk markers.

Mental Health and Well-Being in Mothers of Children With Rare Genetic Syndromes Showing Chronic Challenging Behavior: A Cross-Sectional and Longitudinal Study

It is well documented that mothers of children with challenging behavior (CB) experience elevated levels of stress and that this persists over time, but less is known about the experience of mothers of children with rare genetic syndromes. This article describes 2 studies, 1 cross-sectional and 1 longitudinal, comparing well-being in mothers of children with Angelman, Cornelia de Lange and Cri du Chat syndrome who have either shown chronic CB ( n = 18) or low/no CB ( n = 26) in the preceding 7 years. The presence of chronic, long-term CB increased maternal stress but not depression or anxiety, and did not influence positive well-being. Stress relating specifically to their childs genetic syndrome reduced with age, highlighting the need for further exploration in this area.