Challenges in the management of Phenylketonuria in Malta

Phenylketonuria (PKU) is a rare metabolic disorder comprising a number of different enzyme deficiencies. In Malta, dihydropteridine reductase (DHPR) deficiency appears to be more common than phenylalanine hydroxylase deficiency (classical PKU), and is associated with greater and long term neurodisability. The absence of newborn screening for PKU in Malta results in a later diagnosis and, to-date, all affected patients require medical support for one or several problems including developmental delay, behavioural issues, cognitive impairment, epilepsy and neurodisability. These are compounded by problems in providing and adhering to strict low-phenylalanine diets and, in those with DHPR, the regular provision of neurotransmitter and cofactor supplementation. As a result, although a small cohort, these patients create a disproportionate demand on health services and, in most cases, will continue to require long term support at all levels since most will be unable to lead an independent existence. A radical and comprehensive overhaul of the local care provided to children with rare metabolic diseases is required at all levels, starting with the introduction of newborn screening, followed by effective dietary and pharmaceutical provision throughout childhood and through to later life.peer-reviewe

Breastfeeding, Malta 2002

Although the scientific and economic benefits in support of breastfeeding over formula feeds is overwhelming, Malta retains one of the lowest rates for breastfeeding in almost all developed and several under-developed countries. Recently, this rate had begun to improve: from just 45% of maltese mothers breastfeeding (exclusively or mixed feeding) at the time of discharge from St. Luke's Hospital in 1995, to 64% in 2000. Nevertheless, this improvement was not sustained and only 18% of maltese mothers were still exclusively or partbreastfeeding 9 months after delivery in 2000. Of greater concern is the apparent reversal of the improving trend with a decrease to 56% total/partial breastfeeding at discharge from hospital in the first half of 2002. This article reviews the reasons for these low rates and discusses the efforts being made to improve the situation. Organisation (WHO), amongst others. National health departments have, in the main but with varying commitment, taken on this responsibility with the establishment of national breastfeeding committees and programmes. Malta is no exception, although the changing trend toward breastfeeding has yet to gather momentum and the breastfeeding rate remains bottom of the European league table. Indeed, as shown in table 1, in 1995 just 45% of maltese mothers breastfed (including exclusive breast or mixed feeding) at the time of discharge from St. Luke's hospital 3, and that this rate dropped precipitously to 20% by the first month of life 4. The rates for gozitan mothers were approximately 5-10% less, whereas those for infants born in private institutions approximately 10-20% higher. These figures had improved in 2000, when up to 64% of mothers offered their newborns either exclusive breast milk or mixed feeds on discharge from the maternity unit at St. Luke's3 . Disappointingly, this improvement was not sustained and, of this cohort in 2000, 35% still exclusively or part-breastfed 2 months after delivery, and just 18% seven months later4. Furthermore, the breastfeeding rate at discharge has since dropped further to 56% in the first six months in 20023 . These dismal figures stem from several factors and can only improve with widespread changes in socio-cultural attitudes, national education and support facilities in the hospital, home and at work. This article discusses those issues that need to be addressed if the percentage of maltese infants receiving the benefits of breast milk is to increase.peer-reviewe

Ethical principles in paediatric practice

Clinical problems with significant ethical implications pose an ever increasing dilemma in everyday medical practice in the 21st century and rarely present a simple solution. This is particularly the case with ethical issues involving children and those unable to take their own decisions. Whilst the patients’ interests should come first and all personal, cultural and religious bias eliminated, the impact of costly treatment for the individual patient on the available healthcare resources must also be taken into account. Hence, it is essential to establish an ethically acceptable code of practice which will allow doctors to provide an objective approach to management that is rational and consistent, both for the patient as well as society at large regardless of creed or culture. An equally important code of practice is required for medical research, whether this involves clinical trials on children, laboratory and animal studies. Although the same general principles are applied to guide all medical ethical problems, these may be adjusted to different research scenarios. Particularly difficult issues relate to research involving subjects who are unable to fully comprehend the ethical issues at stake, especially the embryo, children and those with a disability, as well as issues relating to the initiation of intensive care or ‘extraordinary’ measures and, finally, issues relating to the discontinuation of care and the dying process.peer-reviewe

Road courtesy : a prerogative of gender, age and car size

This study addressed the hypothesis that courtesy on busy Maltese roads was dependent on, or influenced by, independent factors relating to the driver and car, or both. Courtesy was defined when a driver with the right of way ‘allowed access’ to another car onto a main road leading to a congested roundabout, whereby ‘courteous passage’ was the only reasonable means of access for the second car. ‘Allowed’ access to the same car (British Vehicle Classification [BVC] class 2, 17.5 years old in poor condition), with one driver aged 50+ and one passenger aged 17 years, approaching the same junction between 07:15 and 07:45 on school days was assessed. Details of all cars including BVC group that refused or allowed access, their drivers’ gender and age (± 10 years), any accompanying passengers and the prevailing weather was recorded onto a standardised pro-forma. Data from 88 schooldays over 6 months resulted in 141 refusals plus 44 courteous passes (analysed), and 46 access events through gaps in traffic (not analysed). The weather conditions and presence/absence of any co-passengers, whether adult or children, had no bearing on road courtesy. Courtesy was significantly enhanced with family saloons (BVC Groups 4–6) when compared with small cars (Group 1–3, p = 0.04), and luxury or work vehicles (Group 7–11, p = 0.0065), especially in those with male drivers aged 40+ (p = 0.022). Drivers of large and work vehicles, almost exclusively male (92%), were significantly less courteous (p = 0.025).peer-reviewe

Changing clinical activity in Paediatrics in Malta, 1996-2011

Aim: This study reviews the clinical workload in paediatrics in Malta over a 16-year period. Methods: National statistics for live birth rates were obtained from the Directorate of Health Information and Research. Data for paediatric (birth to 14 completed years) and neonatal admissions, day cases, outpatient visits, attendance at Paediatric Accident and Emergency and the Community-based Developmental Unit were obtained from the Annual Reports, Department of Paediatrics, for the period 1996-2011. Results: During the study period, live births fell by 11% from 4,349 in 1996 to 3,857 in 2005, and recovered to 4,283 in 2011. Whereas neonatal admissions to NPICU remained constant at around 340(±22) per annum, inpatient admissions to the general Paediatric wards decreased by 19% (from 3,151 to 2,550), and casualty reviews dropped by 35% (11,831 to 7,773). In contrast, day care reviews increased by 66% (1,347 to 3,928), the total outpatient workload increased by 70% (13,500 to 22,998), and cases reviewed in the Community-based Child Developmental Unit increased by 184% from 413 to 1174. Changes observed in the clinical activity in Gozo General Hospital were similar but less marked. Conclusion: Over a 16 year period, there has been a significant shift in the paediatric workload in Malta from an in-patient bias in 1996 to increased day care and outpatient reviews in 2011. This shift is largely the result of improved hospital and community day health care services, and can be increased further with augmented community care. Health resources and future paediatric health care programmes will need to take heed of these trends.peer-reviewe

Child abuse in Malta : a review

Child abuse constitutes one of the most difficult areas of paediatric practice in Malta and, sadly, non accidental injury (NAI) is not only relatively common but is also increasing in incidence. The multi-factorial and socially complex aetiology of child abuse makes its eradication at source very difficult indeed. Nevertheless, the significant negative impact of this diagnosis on the affected child, both in the immediacy as well as in the long term, dictates damage-limitation through early identification and appropriate management. To this end, local awareness of the magnitude of the problem has galvanized the relevant authorities who have now established efficient tracking and processing protocols for cases of NAI, covering medical, social, legal and police aspects.peer-reviewe

Does a simple educational exercise influence practice in acute tonsillitis in children?

Aim: To assess the concordance of treatment of children attending with tonsillitis in Paediatric Accident and Emergency with established guidelines, and subsequent review of the management of this condition after a simple educational exercise. Methods: An audit on children with tonsillitis was carried out amongst doctors working in the Paediatric Accident and Emergency Department during a three month period in 2009. Eleven doctors completed an anonymous questionnaire requesting details on presentation, symptoms, investigations and treatment of children presenting with acute tonsillitis. The results obtained from this questionnaire were compared to NICE guidelines and modified Centor (McIsaac) criteria, and fed back to the participating doctors together with copies of these guidelines via a simple, structured educational exercise. Three months later, a second identical questionnaire was again completed by the same cohort of doctors. Results: The first questionnaire showed that there was a tendency towards unnecessary prescription of antibiotics and investigations in children with acute tonsillitis, when compared to recommendations in the guidelines. Following educational feedback, the second questionnaire showed a reduction in antibiotic prescriptions by 9% (p=0.5) and investigations by 37% (p=0.1). Compliance with guidelines had improved significantly with regard to non-prescribing of antibiotics with a fever of 1cm and presence of underlying disease although these changes were not statistically significant. Conclusion: Although doctors were initially only partly compliant with established guidelines for children with acute tonsillitis, compliance improved significantly after a simple educational exercise.peer-reviewe

Suboptimal provision of medications and dietary products for phenylketonuria in Malta

In Malta phenylketonuria (PKU) is mostly due to dihydropteridine reductase (DHPR) deficiency rather than phenylalanine hydroxylase deficiency (classical PKU), and is associated with long term neurodisability in all affected patients. The absence of newborn screening for PKU in Malta results in a later diagnosis and an increased burden on families and affected individuals. This burden is further compounded by problems in adherence to strict low-phenylalanine diets, in part due to problems dispensing appropriate amounts of low- phenylalanine products and, in those with DHPR, the regular provision of neurotransmitter and cofactor supplementation. Over a 6.5-year review, complete provisions were dispensed in 68% of all prescriptions for L-dopa, 67% for 5- hydroxytryptophan, 63% for low protein food, 61% for folinic acid and just 30% for low protein drinks. The problems encountered in the management of PKU highlight similar problems facing those with other rare, metabolic or ‘orphaned’ diseases. Yet some of these problems, particularly with regard to the dispensing of medicines and special food products can be reduced or eliminated. This would require a radical and comprehensive overhaul of the funding, procurement, stocking and dispensing of all pharmaceutical provisions in order to achieve stable phenylalanine levels throughout childhood and through to later life.peer-reviewe

Assessment of the undergraduate Curriculum in Paediatrics in Malta : student feedback in Paediatrics, Malta

Aim: The study was designed to assess both satisfactory and unsatisfactory aspects of the undergraduate curriculum in Paediatrics as perceived by the students themselves. Methods: A simple questionnaire was designed to assess students' perceptions of the curriculum and was returned from 17 students from a cohort of 57 in 1999, and 32 from 39 in 2002. Results: In most aspects of the course, replies were highly satisfactory and often excellent, particularly with regard to the course organisation, attendance of lecturers, coverage of general paediatrics, tutorials and examinations. Some areas where student dissatisfaction was in excess of one third of respondents, notably the amount of neonatal coverage in 1999, have been addressed and had improved in 2002. Nevertheless, the follow up questionnaire in 2002 has shown that other issues remain problematic, particularly a lack of coverage of community paediatrics and insufficient `hands-on' teaching. Conclusions: A simple questionnaire-based format for assessing student feedback was both practical and reliable, and can be applied to assess the influence of any future changes in the curriculum. The questionnaire does not only confirm anticipated curricular deficiencies but is also effective in highlighting unexpected problems that can, therefore, be addressed appropriately.peer-reviewe

Meningococcal B vaccination : a novel approach

Meningococcal B disease is associated with a mortality of up to 10% and significant morbidity in survivors. Attempts to produ.ce an effective vaccine based on established methods over several decades, have succeeded in designing vaccines suitable only for local and strain-specific outbreaks. To date, the 4CMenB vaccine is the first preventative measure that is effective on a global endemic level and could potentially cover against 80% of isolates that cause this devastating disease. Although costly, this vaccine appears to be safe and can be given with other vaccines. Early trials of a 3+ 1 infant schedule have shown encouraging levels of seroprotection at 13 months of almost 100% for all four vaccine components. Results from widespread national programmes have shown uptake levels for the vaccine in excess of 95% of the target population, and Significant reductions in invasive meningococcal B disease by more than 50% of cases within just 10 months of starting the programme. Long term surveillance for late adverse events and to determine the duration of protection is ongoing, and countries will need to independently establish the cost-benefit and feasibility of a 4CMenB programme.peer-reviewe