Little is known about the aging process of people with specific syndromes, like Rett syndrome (RTT). Recognition of the clinical and behavioral characteristics of the adult RTT is needed in order to improve future management of the RTT girl and counseling of parents. In association with the Dutch RTT parent association, a 5-year longitudinal study was carried out. The study population consisted of 53 adult women with a clinical diagnosis of RTT. Postal questionnaires were sent, including demographic features, skills, physical and psychiatric morbidity. At the time of the second measurement seven women had died. In 2012, 80% of the questionnaires (37/46) were returned. Mean age of the women was 31.4 years. Molecular confirmation was possible for 83% of the women for whom analyses were carried out. The adult RTT woman has a more or less stable condition. The general disorder profile is that of a slow on-going deterioration of gross motor functioning in contrast to a better preserved cognitive functioning, less autonomic and epileptic features and good general health. This is the first longitudinal cohort study about aging in RTT. Continuing longitudinal studies are needed to gain more insight into the aging process in RTT.

The aging process of people with intellectual disabilities has been a topic of interest in recent years. Good knowledge of the specific healthcare problems in adults with intellectual disabilities and anticipating on these problems are important issues in providing support and healthcare for these persons. Nevertheless little is known about the aging process of people with specific syndromes, like Rett syndrome. In association with the Dutch Rett syndrome parent association, 70 postal questionnaires were sent to the contact persons of the females aged at least 16 years with a clinical diagnosis of Rett syndrome. The questionnaire consisted of general questions, questions about living conditions, skills, physical and psychiatric morbidity. The response rate was 76% (n = 53). In general adults with Rett syndrome seemed to be reasonably healthy, whereas neurological, respiratory and behavioral morbidity appeared to be of great influence. High care dependency was confirmed. In contrast with underweight, overweight showed to be an under-ascertained feature. The general disorder profile was confirmed, considering the increase with age regarding kyphosis and the better communication and autonomic dysfunction in the oldest age group compared to the younger age groups. Features of autonomic dysfunction deserve more medical attention, especially the interrelation between quality of sleep, respiration and behavior in Rett syndrome. Longitudinal studies including genotype-phenotype analyses are needed for insight in individual changes in support needs and health.

BackgroundFever is common in children aged 0-4 years old and often leads to parental worries and in turn, high use of healthcare services. Educating parents may have beneficial effects on their sense of coping and fever management. Most parents receive information when their child is ill but it might be more desirable to educate parents in the setting of well-child clinics prior to their child becoming ill, in order to prepare parents for future illness management. This study aims to explore experiences of well-child clinic professionals when dealing with childhood fever and current practices of fever information provision to identify starting points for future interventions.MethodsWe held four focus group discussions based on naturalistic enquiry among 22 well-child clinic professionals. Data was analysed using the constant comparative technique.ResultsWell-child clinic professionals regularly received questions from parents about childhood fever and felt that parental worries were the major driving factor behind these contacts. These worries were assumed to be driven by: (1) lack of knowledge (2) experiences with fever (3) educational level and size social network (4) inconsistencies in paracetamol administration advice among healthcare professionals. Well-child clinic professionals perceive current information provision as limited and stated a need for improvement. For example, information should be consistent, easy to find and understand.ConclusionsFever-related questions are common in well-child care and professionals perceive that most of the workload is driven by parental worries. The focus group discussions revealed a desire to optimise the current limited information provision for childhood fever. Future interventions aimed at improving information provision for fever in well-child clinics should consider parental level of knowledge, experience, educational level and social network and inconsistencies among healthcare providers. Future fever information provision should focus on improving fever management and practical skills.Electronic supplementary materialThe online version of this article (doi:10.1186/s12913-016-1488-1) contains supplementary material, which is available to authorized users.

Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurodevelopmental disorder leading to cognitive and motor impairment, epilepsy, and autonomic dysfunction in females. Since the discovery that RTT is caused by mutations in MECP2, large retrospective genotype-phenotype correlation studies have been performed. A number of general genotype-phenotype relationships were confirmed and specific disorder profiles were described. Nevertheless, conflicting results are still under discussion, partly due to the variability in classification of mutations, assessment tools, and structure of the data sets. The aim of this study was to investigate relationships between genotype and specific clinical data collected by the same experienced physician in a well-documented RTT cohort, and evaluate its prognostic value in counseling young parents with a newly diagnosed RTT girl regarding her future outcome. The Maastricht-Leuven Rett Syndrome Database is a register of 137 molecularly confirmed clinical RTT cases, containing both molecular and clinical data on examination and follow up by the same experienced physician. Although the general genotype-phenotype relationships were confirmed, the clinical severity was still found to be very variable. We therefore recommend caution in using genotype-phenotype data in the prognosis of outcome for children in Rett syndrome. Early diagnosis, early intervention, and preventive management are imperative for better outcomes and better quality of daily life for RTT females and their families.