Whyte, Michael P.; McAlister, William H.; and et al, ,"Enzyme-replacement therapy in life-threatening hypophosphatasia." The New England Journal of Medicine.366,10. 904-913. (2012).

Background: Our Phase 2, open-label study of 11 infants and young children with lifethreatening perinatal or infantile hypophosphatasia (HPP) demonstrated 1-year safety and efficacy of asfotase alfa, an enzyme replacement therapy. We report outcomes over ~7 years. Methods: Patients received asfotase alfa (1 mg/kg thrice weekly subcutaneously; adjusted to 3 mg/kg thrice weekly if required). HPP skeletal manifestations were evaluated on the Radiographic Global Impression of Change (RGI-C) scale (−3=severe worsening; +3=complete/near complete healing). Respiratory support, growth, and cognitive and motor function were also evaluated. Findings: Ten patients completed a 6-month treatment period and entered an extension; nine received asfotase alfa for ≥6 years and completed the study, with four treated >7 years. Skeletal healing was sustained over 7 years of treatment; all evaluable patients had RGI-C scores ≥+2 at Years 6 and 7. No patient who completed the study required respiratory support after Year 4. Weight Z-scores improved to within normal range from Year 3 to study end; length/height Z-scores improved but remained below normal. Age-equivalent scores on Gross Motor, Fine Motor, and Cognitive subscales of the Bayley Scales of Infant and Toddler Development also improved. Treatment was generally well tolerated; adverse events were similar to those previously published. Interpretation: Patients with perinatal or infantile HPP treated with asfotase alfa for up to 7 years showed early, sustained improvements in skeletal mineralization. Respiratory function, growth, and cognitive and motor function also improved. Asfotase alfa is safe and effective in perinatal/infantile HPP.

AimA tracheostomy is life-changing and brings many associated new challenges. This study offers an insight into the life of children with tracheostomies and the impact this has on them, their caregiver(s) and the family unit on a daily basis. We explore how they have coped with the transformation in their life and the issues important to them. Little is known to date about such families’ experiences and quality of life once they have been discharged from hospital. Patient experience is being increasingly recognised as an important part of quality of care and as such we have a duty to allow our patients and their families express their views.MethodsIn July 2015 all children with tracheostomies or who had recently been decannulated, in our Trust were identified. A letter was sent out to the identified eligible nine families in January 2016 inviting them to participate in this project by completing age appropriate questionnaires- Paediatric Quality of Life questionnaire, Strength and Difficulties questionnaire and Hospital Anxiety and Depression score and advising them that a follow up phone call would take place to offer them an opportunity to participate in a semi-structured face to face interview should they opt in to the project and want to participate.ResultsOf the nine families contacted five agreed to the face to face interviews and six families returned the questionnaires.Interview data were transcribed and evaluated for emerging themes. Interpretative analysis was performed by the lead researcher, and independently analysed by a Clinical Psychologist for quality assurance. Themes were developed from the analysis and agreed upon by both researchers.The main themes identified included adjusting to new roles, inconsistent care, effect on family relationships, present and future worries and coping with difficult decision-making.ConclusionThe study helped us gain a deeper understanding of what matters to these families and identify the following opportunities for improving care.Multidisciplinary tracheostomy teams with allocated slot at one stop clinic for psychologist and social work to destigmatise these roles and meet families to ensure they know how to access these professions when required.Opportunity to meet other families as standard.

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Guidance from the RCPCH and Public Health agency (PHA) recommends all children 0–5 years should receive vitamin D supplementation (excluding those receiving more than 500 ml of formula milk/day).AimOur aim was to assess current level of vitamin D supplementation in children aged 0–5 years within our trust and assess awareness of RCPCH/PHA guidance among parents and health professionals.MethodsA survey was completed with parents/carers of children aged 0–5 years attending outpatient clinics. We surveyed if children were in receipt of vitamin D supplementation and parental awareness of vitamin D guidance. Education via vitamin D information leaflets was provided to all surveyed.An online survey was circulated to medical and health visiting staff. 99 responses were received.Results40 children were surveyed. 34 of these children should have been receiving supplements. Our survey identified 15% of these children were receiving supplementation. 75% of parents/carers had no awareness of vitamin D guidelines. There was no uptake of healthy start vouchers for vitamins. Healthy Start is a government scheme aiming to improve the health of low income families including the provision of vitamin coupons.72% of health professional respondents were aware of vitamin D guidance yet only 14% correctly identified children who should receive vitamin D supplementation. 63% were not aware of how parents/carers apply for healthy start vouchers. 74% stated they had not received training in vitamin D supplementation. Respondents suggested that they would benefit from face to face teaching sessions and e-learning modules.A teaching programme was created to improve health professionals’ awareness of vitamin D guidance. Following attendance at the session 100% of attendee’s reported that they felt more informed about vitamin D guidance. 89% suggested that the teaching will change their practice with 93% stating that they will now recommend vitamin D supplementation to children aged 0–5 years in their care.ConclusionOur project identified the lack of awareness around vitamin D supplementation and emphasises the importance of education amongst professionals to improve vitamin d supplementation within the paediatric population. Ongoing engagement with the PHA is necessary to improve public awareness and uptake of supplementation.