The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland.

Background: Metachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease characterised by the progressive loss of motor function and severe decline in cognitive function. Limited information is available on the burden MLD places on patients and their families and the medical and social support these patients need. Three UK-based MLD patient organisations commissioned an online survey, and follow-up semi-structured interviews to describe and quantify these burdens across MLD subtypes, stage of disease (including end of life) and treatment status (untreated, gene therapy or hematopoietic stem cell transplant [HSCT]).

Researcher-practitioner partnerships and in-school laboratories facilitate translational research in reading.

Educational neuroscience approaches have helped to elucidate the brain basis of Reading Disability (RD) and of reading intervention response; however, there is often limited translation of this knowledge to the broader scientific and educational communities. Moreover, this work is traditionally lab-based, and thus the underlying theories and research questions are siloed from classroom practices. With growing awareness of the neurobiological origins of RD and increasing popularity of putative "brain-based" approaches in clinics and classrooms, it is imperative that we create more direct and bidirectional communication between scientists and practitioners.

Screening criteria: the need to deal with new developments and ethical issues in newborn metabolic screening.

Newborn metabolic screening is the most widespread application of screening technology and provides the most comprehensive application of genetics in health services, where the Guthrie blood spot cards allow screening for metabolic diseases in close to 100 % of all newborn babies. Despite over 40 years of use and significant benefits to well in excess of 100,000 children worldwide, there is remarkably little consensus in what conditions should be screened for and response to new advances in medicine relating to programme expansion. In this article, the international criteria for newborn metabolic screening are considered, and we propose that these criteria are poorly developed in relation to the baby, its family and society as a whole.