Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey

background due to the absence of curative treatments for inborn errors of immunity (IEI), children born with IEI require long-term follow-up for disease manifestations and related complications that occur over the lifespan. effective transition from pediatric to adult services is known to significantly improve adherence to treatment and long-term outcomes. It is currently not known what transition services are available for young people with IEI in europe. objective to understand the prevalence and practice of transition services in europe for young people with IEI, encompassing both primary immunodeficiencies (PID) and systemic autoinflammatory disorders (AID). methods a survey was generated by the european reference network on immunodeficiency, autoinflammatory, and autoimmune diseases transition working group and electronically circulated, through professional networks, to pediatric centers across europe looking after children with IEI. results seventy-six responses were received from 52 centers, in 45 cities across 17 different countries. all services transitioned patients to adult services, mainly to specialist PID or AID centers, typically transferring up to ten patients to adult care each year. the transition process started at a median age of 16-18 years with transfer to the adult center occurring at a median age of 18-20 years. 75% of PID and 68% of AID centers held at least one joint appointment with pediatric and adult services prior to the transfer of care. approximately 75% of PID and AID services reported having a defined transition process, but few centers reported national disease-specific transition guidelines to refer to. conclusions transition services for children with IEI in europe are available in many countries but lack standardized guidelines to promote best practice

A case report of a rare cause of hypophosphatemic rickets--cystinosis

Bowed legs and failure to thrive in children must be thoroughly investigated. Rickets results from deficient mineralization at the growth plate and can lead to bone deformation. The leading cause is vitamin D deficiency, but in rare cases, rickets can be caused by abnormalities of phospho-calcic metabolism, either primary (inherited) or secondary

L’ostéome ostéoïde de l’enfant : à propos de 5 cas traités par électrocoagulation

L’ostéome ostéoïde est une tumeur osseuse bénigne dont le diagnostic est souvent tardif, malgré une symptomatologie typique : d’importantes douleurs localisées principalement aux membres inférieurs se majorant au cours de la nuit. Le diagnostic fait, le traitement par l’acide acétylsalicylique a fait la preuve de son efficacité antalgique et la tumeur involue la plupart du temps spontanément. Si la douleur n’est pas suffisamment contrôlée par l’acide acétylsalicylique, l’enfant peut être traité de manière chirurgicale ou par électrocoagulation percutanée sous contrôle tomodensitométrique avec un taux de succès comparable. Nous rapportons 5 cas d’enfants traités par électrocoagulation percutanée et comparons ceux-ci aux séries de la littératur

Clinical application of rehabilitation technologies in children undergoing neurorehabilitation

The application of rehabilitation technologies in children with neurological impairments appears promising as these systems can induce repetitive goal-directed movements to complement conventional treatments. Characteristics of robotic-supported and computer-assisted training are in line with principles of motor learning and include high numbers of repetitions, prolonged training durations, and online feedback about the patient’s active participation. When experienced therapists apply these technologies, they can be considered a rather safe and in combination with virtual realities a motivating supplementary approach. Therapists might have to take into account that there might be some factors that are different when applying such technologies to children with congenital versus acquired neurological lesions. Currently, clinical guidelines on how to apply such technologies are missing, and clinical evidence considering the effectiveness of such technologies has just started to commence in pediatric neurorehabilitation. Experienced therapists formulated recommendations that might be useful to those with less experience on how to apply some of these systems to train the lower and upper extremity intensively and playfully. Finally, suggestions are made on how these technologies could be integrated into the clinical path

Rehabilitation and neuroplasticity in children with unilateral cerebral palsy

Cerebral palsy is a childhood-onset, lifelong neurological disorder that primarily impairs motor function. Unilateral cerebral palsy (UCP), which impairs use of one hand and perturbs bimanual co-ordination, is the most common form of the condition. The main contemporary upper limb rehabilitation strategies for UCP are constraint-induced movement therapy and bimanual intensive therapy. In this Review, we outline the factors that are crucial to the success of motor rehabilitation in children with UCP, including the dose of training, the relevance of training to daily life, the suitability of training to the age and goals of the child, and the ability of the child to maintain close attention to the tasks. Emerging evidence suggests that the first 2 years of life are a critical period during which interventions for UCP could be more effective than in later life. Abnormal brain organization in UCP, and the effects of development on rehabilitation, must also be understood to develop new effective interventions. Therefore, we also consider neuroimaging methods that can provide insight into the neurobiology of UCP and how the condition responds to existing therapies. We discuss how these methods could shape future rehabilitative strategies based on the neurobiology of UCP and the therapy-induced changes seen in the brain