Childhood long-term conditions in primary care: a qualitative study of practitioners’ views

Background

Improving child health and wellbeing in England was the key focus of the Chief Medical Officer’s Annual Report 2012, which recommended that all children with long-term conditions (LTCs) have a named GP responsible for their care. Little is known, however, about practitioners’ views and experiences of supporting children with LTCs in primary care.

Aim

To explore practitioners’ views of supporting children with LTCs and their families in primary care.

Design and setting

Qualitative interview study in primary care settings in South Yorkshire, England.

Method

Interviews explored practitioners’ views and experiences of supporting children with asthma, cystic fibrosis, type 1 diabetes, and epilepsy. Interviews were audiotaped, transcribed verbatim, and analysed using the framework approach.

Results

Nineteen practitioners were interviewed: 10 GPs, five practice nurses, and four nurse practitioners. The GPs’ clinical roles included prescribing and concurrent illness management; nurse practitioners held minor illness clinics; and practice nurses conduct asthma clinics and administer immunisations. GPs were coordinators of care and provided a holistic service to the family. GPs were often unsure of their role with children with LTCs, and did not feel they had overall responsibility for these patients. Confidence was dependent on experience; however, knowledge of GPs’ own limits and accessing help were felt to be more important than knowledge of the condition.

Conclusion

Primary care has a valuable role in the care of children with LTCs and their families. This study suggests that improving communication between services would clarify roles and help improve the confidence of primary care practitioners.     

A Review of Neuroimaging Findings in Repetitive Brain Trauma

Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease confirmed at postmortem. Those at highest risk are professional athletes who participate in contact sports and military personnel who are exposed to repetitive blast events. All neuropathologically confirmed CTE cases, to date, have had a history of repetitive head impacts. This suggests that repetitive head impacts may be necessary for the initiation of the pathogenetic cascade that, in some cases, leads to CTE. Importantly, while all CTE appears to result from repetitive brain trauma, not all repetitive brain trauma results in CTE. Magnetic resonance imaging has great potential for understanding better the underlying mechanisms of repetitive brain trauma. In this review, we provide an overview of advanced imaging techniques currently used to investigate brain anomalies. We also provide an overview of neuroimaging findings in those exposed to repetitive head impacts in the acute/subacute and chronic phase of injury and in more neurodegenerative phases of injury, as well as in military personnel exposed to repetitive head impacts. Finally, we discuss future directions for research that will likely lead to a better understanding of the underlying mechanisms separating those who recover from repetitive brain trauma vs. those who go on to develop CTE.     

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

Analysis of 786 NF1 mutation-positive subjects with clinical diagnosis of neurofibromatosis type 1 (NF1) allowed to identify the heterozygous c.5425C>T missense variant (p.Arg1809Cys) in six (0.7%) unrelated probands (three familial and three sporadic cases), all exhibiting a mild form of disease. Detailed clinical characterization of these subjects and other eight affected relatives showed that all individuals had multiple cafè-au-lait spots, frequently associated with skinfold freckling, but absence of discrete cutaneous or plexiform neurofibromas, Lisch nodules, typical NF1 osseous lesions or symptomatic optic gliomas. Facial features in half of the individuals were suggestive of Noonan syndrome. Our finding and revision of the literature consistently indicate that the c.5425C>T change is associated with a distinctive, mild form of NF1, providing new data with direct impact on genetic counseling and patient management.     

The Impact of Cardiac Rehabilitation on Mental and Physical Health in Patients With Atrial Fibrillation: A Matched Case-Control Study

Background

Patients with atrial fibrillation (AF) experience symptom burden, exercise intolerance, weight gain, poor mental health, and diminished quality of life (QoL). Cardiac rehabilitation (CR) is recommended for patients with heart disease, and its benefits are well established, yet clinical guidelines for patients with AF do not include the referral to CR.

11p15 duplication and 13q34 deletion with Beckwith–Wiedemann syndrome and factor VII deficiency

Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with Beckwith–Wiedemann syndrome (BWS) and moderate deficiency of factor VII (FVII). The duplication was initially diagnosed on methylation‐sensitive multiplex ligation‐dependent probe amplification. Array comparative genome hybridization confirmed its presence and indicated a 13q34 distal deletion. The patient's clinical symptoms, including developmental delay and facial dysmorphism, were typical of BWS with paternal 11p15 trisomy. Partial 13q monosomy in this patient is associated with moderate deficiency of FVII and may also overlap with a few symptoms of paternal 11p15 trisomy such as developmental delay and some facial features. To our knowledge this is the first report of 11p15.4p15.5 duplication associated with deletion of 13q34 and FVII deficiency. Moreover, this report emphasizes the importance of detailed clinical as well as molecular examinations in patients with BWS features and developmental delay.