Upon successful completion of this activity, healthcare professionals (such as endocrinologists, paediatricians, paediatric endocrinologists, diabetes specialists, specialist nurses, primary care physicians) will be awarded 1 European CME credit (ECMEC) and should be able to:
Describe the psychosocial factors that can affect metabolic control
Discuss the rationale and clinical guideline recommendations for psychosocial screening in childhood diabetes
Explain the importance of family interactions and dynamics in diabetes management
Assess the different behavioural and psychological interventions for optimising diabetes management in children and adolescents
Niemann-Pick type C disease is a rare genetic lysosomal storage disorder that causes severe, progressive neurological symptoms. It is a very serious, life-threatening condition that can affect infants, children and adults. NP-C is characterized by cellular accumulation of lipids, in particular unesterified cholesterol and glycosphingolipids, in many parts of the body including brain, liver and spleen.
The variability of NPC presentations provides a wide range of life expectancy. In general, early-onset patients tend to die during childhood or early adolescence, while patients with later-onset disease who appear to be less drastically affected can live into late adulthood.
Accurate diagnosis of NPC requires awareness of many clinical phenotypes, narrowing of differential diagnosis by ancillary testing and final confirmation by biochemical testing – the current mainstay of primary diagnosis in NPC.
The prevalence of NPC has undoubtedly been underestimated in the past due to a mixture of factors including confusing terminology, prior lack of specific biochemical or genetic tests, varied pathology, and the many variant clinical manifestations of the disease.
Current, non-specific treatments for NPC focus mainly on supportive care, aimed toward managing the symptoms of the disease. As such, these treatments have no effect on disease progression or long-term outcomes.
Specific therapies for the intended treatment of NPC are based on targeting known pathophysiological and/or biochemical defects involved in the pathogenesis of the disease. While earlier attempts proved largely ineffective, more recent efforts indicate possible hope for the future.
This guideline aims to identify the essential core (routine) care that every woman and her baby..
... should receive in the first 6–8 weeks after birth, based on the best evidence available. The recommendations on co-sleeping and sudden infant death syndrome cover the first year of an infant's life.
Although for most women and babies the postnatal period is uncomplicated, care during this period needs to address any deviation from expected recovery after birth. This guideline gives advice on when additional care may be needed and these recommendations have been given a status level.
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