BackgroundThe aim was to gain a UK national sample of people with Rett syndrome (RTT) across the age range and compare their characteristics using a variety of relevant behavioural measures with a well-chosen contrast group.MethodsThe achieved sample was 91 girls and women, aged from 4 to 47 years, of whom 71 were known to be MECP2 positive. The contrast group (n = 66), matched for age, gender, language and self-help skills, comprised individuals with six other syndromes associated with intellectual disability. Parental questionnaire measures of RTT specific characteristics, impulsivity, overactivity, mood, interest and pleasure, repetitive behaviour and self-injury were administered.ResultsHand stereotypies, breathing irregularities, night-time unrest and anxiety or inappropriate fear were commonly reported among the RTT sample. Problems of low mood were also reported as common. However, mood and interest and pleasure were no lower than found in the contrast group. In addition, self-injury was lower than in the contrast group and was associated with factors found to predict self-injury in other groups of people with severe intellectual disabilities.ConclusionsThere is variability in the manifestation of problem behaviours potentially associated with the syndrome across individuals, with some more severely affected in most areas than others. Some of this variability appears to be underpinned by genetic mutation.

Few published studies have reported on the psychological well-being of family members of individuals with Rett syndrome (RTT). Eighty-seven mothers of girls and women with RTT completed a questionnaire survey about their daughters' behavioral phenotype, current health, and behavior problems, and their own and a sibling's well-being. Mothers reported increased anxiety but similar levels of depression when compared to a normative sample. Across all problem domains on the Strengths and Difficulties Questionnaire, child and adolescent siblings (n = 39) were reported by mothers to have fewer difficulties than a normative sample. The severity of their daughters' RTT behavioral phenotype predicted increased anxiety and stress for mothers. Increased RTT daughters' current health problems predicted more maternal perceptions of positive gain.

This study provides further evidence for the post-regression stability that characterises Rett syndrome. Emergent low mood in Rett syndrome requires further research.

As part of a wider study to investigate the behavioral phenotype of a national sample of girls and women with Rett syndrome (RTT) in comparison to a well-chosen contrast group and its relationship to parental well-being, the development, clinical severity, current abilities and health of 91 participants were analyzed in relation to diagnostic, clinical and genetic mutation categories. Early truncating mutations or large deletions were associated with greater severity. Early regression was also associated with greater severity. All three were associated with lower current abilities. Epilepsy and weight, gastrointestinal and bowel problems were common co-morbidities. Participants with classic RTT had greater health problems than those with atypical RTT. A substantial minority of respondents reported fairly frequent signs of possible pain experienced by their relative with RTT. Overall, the study provides new data on the current abilities and general health of people with RTT and adds to the evidence that the severity of the condition and variation of subsequent disability, albeit generally within the profound range, may be related to gene mutation. The presence of certain co-morbidities represents a substantial ongoing need for better health. The experience of pain requires further investigation.

BackgroundIt 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.MethodsMothers 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.ResultsDifferent 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.ConclusionsBayesian 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.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0924-1) contains supplementary material, which is available to authorized users.