Optimizing care for children with difficult-to-treat and severe asthma through specialist paediatric asthma centres: expert practical experience and advice.

Severe asthma in children carries an unacceptable treatment burden, yet its rarity means clinical experience in treating it is limited, even among specialists. Practical guidance is needed to support clinical decision-making to optimize treatment for children with this condition.This modified Delphi convened 16 paediatric pulmonologists and allergologists from northern Europe, all experienced in treating children with severe asthma. Informed by interviews with stakeholders involved in the care of children with severe asthma (including paediatricians, nurses and carers), and an analysis of European guidelines, the experts built a consensus focused on the gaps in existing guidance. Explored were considerations for optimizing care for patients needing biologic treatment, and for selecting home or hospital delivery of biologics. This consensus is aimed at clinicians in specialist centres, as well as general paediatricians, paediatric allergologists and paediatric pulmonologists who refer children with the most severe asthma to specialist care. Consensus is based on expert opinion and is intended for use alongside published guidelines.Our discussions revealed three key facets to optimizing care. Firstly, early asthma detection in children presenting with wheezing and/or dyspnoea is vital, with a low threshold for referral from primary to specialist care. Secondly, children who may need biologics should be referred to and managed by specialist paediatric asthma centres; we define principles for the specialist team members, tests, and expertise necessary at such centres, as well as guidance on when homecare biologics delivery is and is not appropriate. Thirdly, shared decision-making is essential at all stages of the patient's journey: clear, concise treatment plans are vital for patient/carer self-management, and structured processes for transition from paediatric to adult services are valuable. The experts identified the potential for specialist paediatric asthma nurses to play a significant role in facilitating multidisciplinary working.Through this project is agreed a framework of practical advice to optimize the care of children with severe asthma. We encourage clinicians and policymakers to implement this practical advice to enhance patient care.

Transition to adult care of young patients with neurofibromatosis type 1 and cognitive deficits: a single-centre study.

BACKGROUND: The transition of adolescents to adult care is known to be challenging. Studies indicate that patients with a chronic disease and cognitive deficits are at risk of inadequate transition to adult care, which eventually may result in disease deterioration. This study investigated the transition process for patients with neurofibromatosis type 1 (NF1) and discussed whether patients with NF1 and cognitive deficits should receive additional attention in their transitional period. METHOD: A self-reported online questionnaire assessing disease severity, cognitive deficits, psychiatric diagnoses as well as transition experiences was completed by patients with NF1 aged 15-25-years. Patients were assigned to a national NF1 expert centre covering the western part of Denmark. Furthermore, a retrospective medical chart review was performed, and data were collected to estimate the prevalence of psychiatric diagnoses. RESULTS: The questionnaire was completed by 41/103 (39%), median age 20 [range 15; 25] years. Medical chart review was performed in 103 patients, median age 20 [range 15; 25]. Participants reporting the transition as difficult all received special needs education, six reported executive function deficits and three out of seven had a psychiatric diagnosis. Fifteen (37%) questionnaire participants reported a wish for more information about the natural history and the prognosis of NF1. The prevalence of psychiatric diagnoses was 24% in the questionnaire survey and 30% in the medical chart review. CONCLUSION: This study suggests a need of additional care for patients with NF1 and cognitive deficits including psychiatric disorders during their transition to adult care. In addition, it suggests a need for more information on and education in long-term prospects and mental health issues for patients with NF1.

Pulmonary interstitial glycogenosis - A systematic analysis of new cases.

BACKGROUND: Pulmonary interstitial glycogenosis (PIG) is a rare paediatric interstitial lung disease of unknown cause. The diagnosis can only be made by lung biopsy. Less than 100 cases have been reported. Clinical features, treatment and outcomes have rarely been assessed systematically in decent cohorts of patients. METHODS: In this retrospective multicentre study, the clinical presentation, radiologic findings, pattern of lung biopsy, extrapulmonary comorbidities, treatment and outcome of eleven children with PIG were collected systematically. RESULTS: 10/11 children presented with respiratory distress immediatly after birth and 8/11 needed invasive ventilation. In 8/11 children extrapulmonary comorbidities were present, congenital heart defects being the most common. 7/11 children received systemic glucocorticoids and of these four showed a clear favorable response. During a median follow-up of 3.0 years (range 0.42-12.0) one child died, while 10 patients improved. Chest CT-scans showed ground-glass opacities (7/10), consolidations (6/10), linear opacities (5/10) and mosaic attenuation (4/10) without uniform pattern. Besides interstitial thickening related to undifferentiated glycogen positive mesenchymal cells all tissue samples showed growth abnormalities with reduced alveolarization. CONCLUSIONS: PIG is associated with alveolar growth abnormalities and has to be considered in all newborns with unexplained respiratory distress. Apparent treatment benefit of glucocorticosteroids needs to be evaluated systematically.

Early high-dose immunosuppression in Henoch-Schönlein nephrotic syndrome may improve outcome.

OBJECTIVE: Renal involvement in Henoch-Schönlein purpura (HSP) constitutes a risk of end-stage renal disease (ESRD), especially in patients presenting with nephrotic syndrome. PATIENTS AND METHODS: The clinical courses of six patients (mean age 13.2 years; four boys and two girls) admitted from 2000 to 2007 with HSP and nephrotic syndrome were reviewed. Average follow-up was 44 months (28-59). Treatment protocols included oral prednisolone and in non-responders cyclosporin A, cyclophosphamide, mycophenolate mofetil or tacrolimus. Five patients were treated immediately after presentation of nephrotic syndrome/nephrotic range proteinuria (median 277 mg/m(2)/h). The last patient was treated locally with low-dose prednisolone (0.2-0.9 mg/kg/day) and 3 months of low-dose cyclophosphamide (1 mg/kg/day). RESULTS: All five patients treated promptly with high-dose immunosuppressant had normal estimated glomerular filtration rate (eGFR) (median 159 ml/min/1.73 m(2)) at follow-up. One obtained complete remission, two had positive dipstick proteinuria and two needed angiotensin-converting enzyme inhibitors to stay normotensive. The patient receiving low-dose immunosuppression at onset progressed to ESRD 44 months later. At initial presentation eGFR, blood pressure, renal biopsy grading, proteinuric range and plasma albumin were similar in all patients. CONCLUSION: Follow-up data from the patients suggest that an early aggressive immunosuppressive approach improves long-term renal outcome in HSP patients with nephrotic syndrome.

[How do patients evaluate the newly introduced system of substituting prescriptions?]. / Hvordan vurderer patienterne laegemiddelsubstitutionsordningen?

In 1997 a new prescription system was introduced in Denmark. The pharmacist must now substitute the prescribed drug with a cheaper version either by a generic prescription (G-substitution) or by an original prescription (O-substitution) unless the prescribing doctor indicates that substitution is not allowed in the specific case. The purpose of this study was to obtain the patients' view on the new prescription system and to identify any related problems. The investigation was based on structured interviews. The interview guide was designed as a questionnaire, which was validated and tested before use. The response rate was 82%. The study showed that 84% of the patients were satisfied with the system and 85% of the patients thought that it should continue. Eighty-three percent of the patients had tried another version of the substituted medicine earlier. Out of these, 6% had experienced more side-effects from the substituted medicine, and 10% felt that the substituted medicine had a weaker effect. There was one case of erroneous medical treatment as a consequence of the substitution system. Only few problems such as more side-effects or less effect of the substituted medicine was experienced by the patients. It can be concluded that the patients in general are satisfied with the new prescription system.

[How do practitioners evaluate the newly introduced system of substituting prescriptions?]. / Hvordan vurderer praktiserende laeger laegemiddelsubstitutionsordningen?

AIMS: In 1997 a new prescription system was introduced in the Danish health care system. The pharmacist must now substitute a prescribed drug with a cheaper version, either generic (G-substitution) or original (O-substitution) unless the general practitioner (GP) indicates that substitution is not allowed. The purpose of this study was to obtain the GPs' views on the system and evaluate the problems related to the system. METHODS: The study was based on questionnaires to GPs developed via qualitative interviews with the GPs and afterwards pilot tested. RESULTS: Out of 300 GPs the response rate was 80%. The study showed that 61% of the GPs were dissatisfied with the system and thought that it should be removed. There were several reasons for this: the system was incomprehensible, the introduction and information about the system was insufficient and the extra workload was too heavy. All the GPs agreed that analogue substitution (substitution between drugs with the same effect obtained by different means) was medically unjustifiable and should not be introduced.

[How do pharmacists evaluate the newly introduced system of substituting prescriptions?]. / Hvordan vurderer apotekere og farmaceuter laegemiddelsubstitutionsordningen?

In 1997 a new prescription system was introduced in the Danish health care system. The pharmacist must now substitute a prescription with a cheaper version of the drug (either generic or original) unless the prescribing doctor indicates that substitution is not allowed in the specific case. The purpose of this study was to evaluate problems of the system and obtain the pharmacists' views on the system. The study was based on questionnaires to a representative sample of 75 pharmacists (a quarter of Denmark's pharmacists). The response rate was 72%. Half of the pharmacists were dissatisfied with the system, which primarily was due to the excessive workload imposed. In spite of this, about half the pharmacists wanted the system to be continued, because the overall purpose of finding the cheapest drug for the patient is good. Nearly all pharmacists thought that analogue substitution (substitution between drugs with the same overall effects but obtained by different means) should not be introduced.

[Communication between general practitioners and hospitals]. / Kommunikation mellem alment praktiserende laeger og sygehuse.

The study was partly based on a retrospective analysis of 408 hospital referrals and 261 discharge summary letters and partly on interviews with chief physicians/surgeons and general practitioners. The level of information in hospital referrals: patient history 87%, objective findings 94%, social medicine 31%, plan/expectations 21%. The diagnostic applicability of patient history/objective findings was 95% and social medicine 70%. The discharge summary letter was received 2-3 days after hospital discharge in 17% cases. In the discharge letters information about medication was described in 41%, information given to patient/relatives in 9%. When discharge summary letters from departments of internal medicine and surgery were compared the level of informations from departments of internal medicine to departments of surgery was superior e.g. descriptions of medication (62% against 26%), date of control (34% against 24%) and information to patient/relatives (12% against 5%). The conclusion was that the level of information and the diagnostic applicability showed variation with regard to quality. General practitioners and hospitals must develop guidelines for hospital referrals and discharge summary letters in order to improve the patient's course.