WellChild Research - Building on Success
The difference we are making to children’s health
Sudden and unexpected collapse of new born babies
Julie-Clare Becher - Consultant Neonatologist at Royal Infirmary of Edinburgh
Most babies are healthy at birth and do not need extra medical care. Tragically there are rare cases where some babies who appear well at birth collapse unexpectedly in the first hours of life and need urgent resuscitation. Around half of these babies die and most of the others are severely brain damaged. These babies do not register on a national scale - they are a missing group of infants of which little is known. These babies are a similar group to those infants who die unexpectedly later in the first year of life but were not being investigated as thoroughly. Because these cases are rare, paediatricians find it difficult to find why they have happened. Although a cause is found in some cases, many go unexplained. This is extremely frustrating for the doctors involved as it is difficult to know how to prevent such a tragedy happening again. It is also devastating to parents who often wrongly feel guilty and believe they were responsible.
The British Paediatric Surveillance Unit Study of Sudden Unexpected Postnatal Collapse collected information to determine the UK incidence, associated features and investigations, and outcome of such infants up to a year of age. A group of professionals in neonatology, obstetrics, pathology and clinical sciences was created to establish national guidelines for optimal investigation so that in more of these infants a cause for collapse can be determined. These guidelines have been disseminated to professional bodies and lay groups throughout the UK for discussion and will be published at the end of 2010.
Using innovative techniques to diagnose children with congenital heart defects
Professor Reza Razavi and Dr Gerald Griel, Evelina Children's Hospital, London
Congenital heart defect is the most common birth defect and is the number one cause of death from birth defects during the first year of life. Almost 20% of babies with congenital heart disease will not survive their first year.
Treatment of children with congenital heart problems has been revolutionised in the past 30 years. The majority of these children can now be cured or managed with good medium to long term results. Great innovations have been achieved in the non-invasive diagnosis and preoperative planning of these children with new techniques using ultrasound and MRI (magnetic resonance imaging). There have also been major leaps forward in treatment with new and improved surgical techniques and the ability to perform some of the surgical procedures using keyhole cardiac catheterisation.
The team at Evelina Children’s Hospital have built on their pioneering work to be the first group in the world to use MRI during cardiac catheterisation procedures in children. As well as providing clear images of the anatomy of the heart, MRI also has the major benefit of reducing and even eliminating the x-ray dose normally used during cardiac catheterisation thus reducing the risk of malignancies in later life. This research has led to the greater understanding of congenital heart disease as the 3D MRI imaging enables the reproduction of virtual and real 3D models of the heart and great vessels which can be used for teaching and research. Patient friendly non-invasive methods for better diagnosis and treatment will continue to be the focus of the team's research over the next 30 years.
Screening children and babies for a range of diseases
Professor Neil Dalton, Evelina Children’s Hospital. London
The charitable provision of sophisticated laboratory infrastructure and an endowed academic post has established a focus for paediatric clinical research and diagnostic development. The WellChild Laboratory at the Evelina Children’s Hospital has been involved in paediatric research and clinical implementation, across all the disciplines but specializing in kidney failure and inherited metabolic disease, for most of the last thirty years. Research based developments in early diagnosis, routine clinical management, dialysis, and transplantation have significantly improved survival and quality of life for children with kidney disease. In particular, children with cystinosis, an inherited disease causing loss of salt and essential nutrients in the urine, presented with rickets, growth failure, and progressive kidney failure requiring dialysis or transplantation by the age of ten. Unfortunately, the kidney was just the first major organ to be affected and subsequently the pancreas, liver, and brain became involved leading to early death. Effective drug treatment and monitoring, combined with better conservative care, have dramatically slowed the progression of kidney disease, reduced other organ damage, and improved the quality of life.
Children developing insulin dependent diabetes, despite improved clinical care, are at high risk of developing kidney failure and heart disease as adults. Over 20 years of research, aimed at understanding the environmental and genetic factors involved, have demonstrated that the children at highest risk can be recognized within the first few years after diagnosis. This work forms the basis for therapeutic trials in adolescent children with type 1 diabetes that should significantly reduce kidney and heart disease.
Inherited metabolic disease is a major cause of brain, kidney, liver, and heart disease. Many of the conditions are progressive but, with early diagnosis before clinical symptoms appear, can be treated simply and effectively. The newborn screening programme for detection of phenylketonuria has been universally successful in preventing mental retardation by simple changes to diet. Improvements in technology have increased the number of diseases that can be easily and cost-effectively screened including medium chain acylCoA dehydrogenase deficiency, an inherited disease of fat metabolism that, during infections or prolonged fasting, causes low blood glucose leading to brain damage or death. Families with babies diagnosed on screening can be effectively counseled to ensure completely normal development.
Delivering effective pain relief for children
WellChild Pain Research Centre, Great Ormond Street Hospital, London
Of the 15 million children in the UK, 1 in 5 of them have a chronic illness or disability. Up to half of infants less than 12 months and 25% of older children visit an accident and emergency department and 1 in 10 children will be admitted to hospital. There are nearly 500,000 operations on children each year and in one-third of the cases, children are sent home the same day and parents manage their postoperative care. Even healthy children will visit a general practitioner between 3-6 times per year. Many of these children will experience painful conditions and all of these children will receive medical care that involves painful investigations and/or treatments. Pain is unpleasant, delays recovery from illness, adds a stressful psychological burden on the child and their family, and may cause long term damage to the nervous system. The Children’s National Service Framework outlines six standards for delivering high quality care for children experiencing pain. However, these standards cannot be fully implemented without more research to understand how pain works in the developing child, how to measure it, how to treat it, and how to deliver effective pain care to all the nation’s children.
The WellChild Pain Research Centre at Great Ormond Street Hospital (GOSH), Institute of Child Health (ICH), and University College London (UCL) has been supported by WellChild since 1998. It’s aim is to improve children’s health and care through research, information, support and education about children’s pain and its management. The centre has begun new initiatives in the care of children in pain, have made major breakthroughs in the understanding of the neural mechanisms of children’s pain and have provided valuable education for practitioners and researchers all over the world. The expertise of the WellChild Pain Research Centre lead researchers and the environment at GOSH, ICH and UCL continue to be ideal for the translation of basic research findings in pain into clinical care of children.
updated November 2010
