Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach.

BACKGROUND: Phenotypic studies have identified distinct patterns of autistic characteristics in genetic syndromes associated with intellectual disability (ID), leading to diagnostic uncertainty and compromised access to autism-related support. Previous research has tended to include small samples and diverse measures, which limits the generalisability of findings. In this study, we generated detailed profiles of autistic characteristics in a large sample of > 1500 individuals with rare genetic syndromes. METHODS: Profiles of autistic characteristics based on the Social Communication Questionnaire (SCQ) scores were generated for thirteen genetic syndrome groups (Angelman n = 154, Cri du Chat n = 75, Cornelia de Lange n = 199, fragile X n = 297, Prader-Willi n = 278, Lowe n = 89, Smith-Magenis n = 54, Down n = 135, Sotos n = 40, Rubinstein-Taybi n = 102, 1p36 deletion n = 41, tuberous sclerosis complex n = 83 and Phelan-McDermid n = 35 syndromes). It was hypothesised that each syndrome group would evidence a degree of specificity in autistic characteristics. To test this hypothesis, a classification algorithm via support vector machine (SVM) learning was applied to scores from over 1500 individuals diagnosed with one of the thirteen genetic syndromes and autistic individuals who did not have a known genetic syndrome (ASD; n = 254). Self-help skills were included as an additional predictor. RESULTS: Genetic syndromes were associated with different but overlapping autism-related profiles, indicated by the substantial accuracy of the entire, multiclass SVM model (55% correctly classified individuals). Syndrome groups such as Angelman, fragile X, Prader-Willi, Rubinstein-Taybi and Cornelia de Lange showed greater phenotypic specificity than groups such as Cri du Chat, Lowe, Smith-Magenis, tuberous sclerosis complex, Sotos and Phelan-McDermid. The inclusion of the ASD reference group and self-help skills did not change the model accuracy. LIMITATIONS: The key limitations of our study include a cross-sectional design, reliance on a screening tool which focuses primarily on social communication skills and imbalanced sample size across syndrome groups. CONCLUSIONS: These findings replicate and extend previous work, demonstrating syndrome-specific profiles of autistic characteristics in people with genetic syndromes compared to autistic individuals without a genetic syndrome. This work calls for greater precision of assessment of autistic characteristics in individuals with genetic syndromes associated with ID.

Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism.

BACKGROUND: It is well documented that mothers of children with intellectual disabilities or autism experience elevated stress, with mental health compromised. However, comparatively little is known about mothers of children with rare genetic syndromes. This study describes mental health and well-being in mothers of children with 13 rare genetic syndromes and contrasts the results with mothers of children with autism. METHODS: Mothers of children with 13 genetic syndromes (n = 646; Angelman, Cornelia de Lange, Down, Fragile-X, Phelan McDermid, Prader-Willi, Rett, Rubenstein Taybi, Smith Magenis, Soto, Tuberous Sclerosis Complex, 1p36 deletion and 8p23 deletion syndromes) and mothers of children with autism (n = 66) completed measures of positive mental health, stress and depression. Using Bayesian methodology, the influence of syndrome, child ability, and mother and child age were explored in relation to each outcome. Bayesian Model Averaging was used to explore maternal depression, positive gain and positive affect, and maternal stress was tested using an ordinal probit regression model. RESULTS: Different child and mother factors influenced different aspects of mental well-being, and critically, the importance of these factors differed between syndromes. Maternal depression was influenced by child ability in only four syndromes, with the other syndromes reporting elevated or lower levels of maternal depression regardless of child factors. Maternal stress showed a more complex pattern of interaction with child ability, and for some groups, child age. Within positive mental health, mother and child age were more influential than child ability. Some syndromes reported comparable levels of depression (SMS, 1p36, CdLS) and stress (SMS, AS) to mothers of children with autism. CONCLUSIONS: Bayesian methodology was used in a novel manner to explore factors that explain variability in mental health amongst mothers of children with rare genetic disorders. Significant proportions of mothers of children with specific genetic syndromes experienced levels of depression and stress similar to those reported by mothers of children with autism. Identifying such high-risk mothers allows for potential early intervention and the implementation of support structures.

Exploration of body perception and body dissatisfaction in young adults with intellectual disability.

BACKGROUND: People with intellectual disability (ID) are more likely to be overweight or obese. Research has shown that body dissatisfaction is a key factor in influencing unhealthy eating behaviour. More evidence is needed relating to how people with ID perceive their bodies in order to provide effectively targeted weight management programmes. AIMS: This study aimed to investigate whether people with ID have concepts for underweight, overweight and healthyweight, and whether they can apply these concepts to themselves. It also aimed to explore body perception bias through comparison of perceived self to independent figure ratings, and body dissatisfaction through perceived-ideal body discrepancy measurement and a series of open-ended questions. METHOD: Mixed methodology was used to explore body perception and body dissatisfaction in 40 young adults with ID compared to 48 individuals without ID. The Stunkard Figure Rating Scale assessed how participants would like to look, and their concepts of weight categories. RESULTS: Young adults with ID tend to hold positive beliefs about their bodies. Females with ID were likely to underestimate their body size. Individuals with ID understood what is meant by 'overweight', 'healthy-weight' and 'underweight' although these concepts were different to those without ID. Individuals with ID were unable to accurately apply these body size categories to themselves. CONCLUSION: These findings suggest that individuals with ID will first need support to understand how concepts of body size apply to themselves in order to facilitate weight management.

Associations between behaviours that challenge in adults with intellectual disability, parental perceptions and parental mental health.

OBJECTIVES: This study examined parental perceptions of behaviours that challenge (CB) in their adult children with intellectual disability (ID), and explored whether perceptions mediated associations between CB and parental psychological distress. DESIGN: A within-group correlational design was employed. METHODS: Sixty-five parents reported on individuals with genetic syndromes and ID who had chronic CB. Parents completed the Illness Perception Questionnaire-Revised (IPQ-R) adapted to measure perceptions of self-injury, aggression or property destruction, alongside assessments of parental locus of control, attributions about behaviour, parental psychological distress, and CB. RESULTS: A high proportion of parents evidenced anxiety and depression at clinically significant levels (56.9% and 30.8%, respectively). Contrary to predictions, psychological distress was not significantly associated with CB. The perception that the adult with ID exerted control over the parent's life mediated the association between CB and parental psychological distress. Few parents endorsed operant reinforcement as a cause of CB (< 10%). CONCLUSIONS: The high levels of psychological distress in parents is notable and of concern. Further research should consider the reasons why parents have causal attributions that might be inconsistent with contemporary interventions. PRACTITIONER POINTS: Parents experience high levels of psychological distress while supporting adults with ID who engage in chronic behaviours that challenge. A stronger belief that the adult with ID exerts control over the parent's life may mediate an association between CB exhibited by the individual with ID and parental psychological distress. Few parents endorsed operant reinforcement as a cause of behaviours that challenge.

Self-injury and aggression in adults with tuberous sclerosis complex: Frequency, associated person characteristics, and implications for assessment.

Even though self-injury and aggression are common in tuberous sclerosis complex (TSC), understanding of these behaviours in adults with TSC and intellectual disability (ID) is limited. Little is known about their frequency in comparison to other ID-related genetic disorders or their association with other TSC-Associated Neuropsychiatric Disorders (TAND). This study determined the caregiver-reported frequency of self-injury and aggression in adults with TSC plus ID in comparison to Down syndrome (DS) and Angelman syndrome (AS), and assessed demographic and behavioural characteristics associated with the occurrence of each behaviour in TSC. Rates of self-injury and aggression in adults with TSC plus ID were 31% and 37.9% respectively. The odds of self-injury for adults with TSC were nearly twice as high as the odds for adults with DS, and the odds of aggression were over 2.5 times higher for adults with TSC than for adults with DS. When compared to adults with AS, odds of self-injury in TSC were around half those of the AS group, and odds of aggression were less than a third of those for adults with AS. These differences were not statistically significant. In adults with TSC, poorer communication and socialisation skills, gastric health problems and impulsivity were associated with self-injury; compulsive behaviour and impulsivity were associated with aggression. Caregivers and professionals should be alert to the likelihood of these behaviours in adults with TSC plus ID, and to characteristics associated with increased risk for their occurrence. We suggest assessment strategies to identify those at elevated risk. WHAT THIS PAPER ADDS: This paper adds specific examination of behavioural difficulties in adults with tuberous sclerosis complex who also have intellectual disability, a population at heightened risk of adverse behavioural outcomes which has received limited focussed examination to date. Findings support existing suggestions that there is relatively high risk for both self-injury and aggression, and provide novel insight into characteristics that may be associated with the presence of these behaviours.

Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers.

BACKGROUND: Research reporting prevalence rates of self-injurious and aggressive behaviour in people with tuberous sclerosis complex (TSC) is limited. No studies have compared rates of these behaviours in TSC with those in other syndrome groups matched for degree of disability or investigated risk markers for these behaviours in TSC. METHODS: Data from the Challenging Behaviour Questionnaire were collected for 37 children, aged 4 to 15 years, with TSC. Odds ratios were used to compare rates of self-injury and aggression in children with TSC with children with idiopathic autism spectrum disorder (ASD), fragile X, Cornelia de Lange and Down syndromes. Characteristics were measured using the Mood Interest and Pleasure Questionnaire, the Activity Questionnaire, the Social Communication Questionnaire, the Repetitive Behaviour Questionnaire, the Wessex Behaviour Schedule and the revised Non-communicating Children Pain Checklist. Mann-Whitney U analyses were used to compare characteristics between individuals with self-injury and aggression and those not showing these behaviours. RESULTS: Rates of self-injury and aggression in TSC were 27% and 50%, respectively. These are high but not significantly different from rates in children with Down syndrome or other syndrome groups. Both self-injury and aggression were associated with stereotyped and pain-related behaviours, low mood, hyperactivity, impulsivity and repetitive use of language. Children who engaged in self-injury also had lower levels of interest and pleasure and showed a greater degree of 'insistence on sameness' than children who did not self-injure. Aggression was associated with repetitive behaviour. The majority of these associations remained significant when the association with level of adaptive functioning was controlled for. CONCLUSIONS: Behavioural profiles can be used to identify those most at risk of developing self-injury and aggression. Further research is warranted to understand the influence of such internal factors as mood, ASD symptomatology and pain on challenging behaviour in people with intellectual disability.

Quality of sexual life and menopause.

The importance of female sexual fulfillment is increasingly recognized in today's society. Women's sexual lives continue well into the menopausal years and beyond; however, the impact of menopause on the quality of that sexual life has not been comprehensively studied in the medical literature. This review attempts to clarify the impact of the physiological, psychological and psychosocial changes occurring at midlife that may affect women's quality of sexual life. Pharmaceutical and psychological interventions that may assist in improving the quality of sexual life of menopausal women are discussed. Female sexuality is complex and not fully understood and, consequently, controversy frequently arises in the discussion of female sexual problems and their treatment. This article highlights some of these controversies and provides a future perspective on how the impact of menopause on the quality of sexual life may be more cohesively investigated.

Current national initiatives and policies to control drug costs in Europe: UK perspective.

Healthcare represents a significant proportion of UK government expenditure leading to the introduction of a number of reforms to contain costs while improving the quality and efficiency of care. Equity is also a core principle. These objectives have led to the institution of a number of central initiatives including National Institute for Clinical Excellence (NICE), Scottish Intercollegiate Guidelines Network (SIGN), and the National Service Frameworks (NSFs). NICE has met with variable success, with a number of activities and measures proposed to enhance its contribution. Other measures recently instituted to improve quality and efficiency include risk sharing arrangements, prescribing incentive schemes coupled with academic detailing, and outcome guarantee schemes. Ongoing reforms will continue with an aging population and pressure on resources.