Impact of newborn screening for SCID on the management of congenital athymia

Background Newborn screening (NBS) programs for severe combined immunodeficiency facilitate early diagnosis of severe combined immunodeficiency and promote early treatment with hematopoietic stem cell transplantation, resulting in improved clinical outcomes. Infants with congenital athymia are also identified through NBS because of severe T-cell lymphopenia. With the expanding introduction of NBS programs, referrals of athymic patients for treatment with thymus transplantation have recently increased at Great Ormond Street Hospital (GOSH) (London, United Kingdom). Objective We studied the impact of NBS on timely diagnosis and treatment of athymic infants with thymus transplantation at GOSH. Methods We compared age at referral and complications between athymic infants diagnosed after clinical presentation (n = 25) and infants identified through NBS (n = 19) who were referred for thymus transplantation at GOSH between October 2019 and February 2023. We assessed whether age at time of treatment influences thymic output at 6 and 12 months after transplantation. Results The infants referred after identification through NBS were significantly younger and had fewer complications, in particular fewer infections. All deaths occurred in the group of those who did not undergo NBS, including 6 patients before and 2 after thymus transplantation because of preexisting infections. In the absence of significant comorbidities or diagnostic uncertainties, timely treatment was achieved more frequently after NBS. Treatment when younger than age 4 months was associated with higher thymic output at 6 and 12 months after transplantation. Conclusion NBS contributes to earlier recognition of congenital athymia, promoting referral of athymic patients for thymus transplantation before they acquire infections or other complications and facilitating treatment at a younger age, thus playing an important role in improving their outcomes

Impact of newborn screening for SCID on the management of congenital athymia

Background: Newborn screening (NBS) programs for severe combined immunodeficiency facilitate early diagnosis of severe combined immunodeficiency and promote early treatment with hematopoietic stem cell transplantation, resulting in improved clinical outcomes. Infants with congenital athymia are also identified through NBS because of severe T-cell lymphopenia. With the expanding introduction of NBS programs, referrals of athymic patients for treatment with thymus transplantation have recently increased at Great Ormond Street Hospital (GOSH) (London, United Kingdom). Objective: We studied the impact of NBS on timely diagnosis and treatment of athymic infants with thymus transplantation at GOSH. Methods: We compared age at referral and complications between athymic infants diagnosed after clinical presentation (n = 25) and infants identified through NBS (n = 19) who were referred for thymus transplantation at GOSH between October 2019 and February 2023. We assessed whether age at time of treatment influences thymic output at 6 and 12 months after transplantation. Results: The infants referred after identification through NBS were significantly younger and had fewer complications, in particular fewer infections. All deaths occurred in the group of those who did not undergo NBS, including 6 patients before and 2 after thymus transplantation because of preexisting infections. In the absence of significant comorbidities or diagnostic uncertainties, timely treatment was achieved more frequently after NBS. Treatment when younger than age 4 months was associated with higher thymic output at 6 and 12 months after transplantation. Conclusion: NBS contributes to earlier recognition of congenital athymia, promoting referral of athymic patients for thymus transplantation before they acquire infections or other complications and facilitating treatment at a younger age, thus playing an important role in improving their outcomes

Bullying in Australian children and adolescents with food allergies

Background: Food allergy is an increasing concern worldwide. The significant impact of food allergies on quality of life and bullying has been well described in international studies. No studies have yet investigated the occurrence of bullying in children and adolescents with food allergies in the Australian population. This study aimed to characterize and examine the frequency of bullying and describe those most responsible and the effects of the bullying on the victims. Methods: Questionnaires were developed based on those used in previous studies and were distributed throughout paediatric allergy clinics. Children and adolescents aged 10‐19 with food allergies were recruited to complete the questionnaire independently, whilst parents completed the questionnaire on behalf of their children aged 5‐9 with food allergies. The data were tabulated and analysed using descriptive statistics. Results: Ninety‐three questionnaires were completed. Overall, 39 (42%) children experienced some form of bullying. This was higher in the older children and adolescent group, where 53% (18/34) were bullied. In addition, 23% (21/93) of the cohort were bullied or teased specifically because of their allergy. Food allergens had been used in the bullying in 24 cases, but no child reported being forced to eat foods to which they were allergic. Two adolescents experienced allergic reactions. Conclusions: This study highlights that those with food allergy are subject to a high degree of bullying. This risk of bullying for children with food allergy indicates a significant social problem that requires addressing to positively assist these children

Bullying and quality of life in children and adolescents with food allergy

Food allergy is an increasing phenomenon in Australia, with most recent reports of food allergy occurring in 1 in 12 children. A number of studies have demonstrated that children and adolescents with food allergies experience a decreased quality of life across a number of domains. More recent evidence suggests that this population also experiences an increased occurrence of bullying compared to similar school-aged children. Some individuals have reported being bullied because of their allergies, whilst others have reported specific allergy-related-bullying, such as being touched with foods that they are allergic to or having their food being intentionally contaminated with an allergen. Where there may be a risk of severe anaphylaxis, this is of great concern. This article reviews the current literature on bullying in populations of children and adolescents with food allergies. Several papers worldwide have investigated this, providing evidence of its occurrence in North America, Canada, Italy and Japan

Parental satisfaction with oral peanut food challenges; perception of outcomes and impact on management of peanut allergy

Oral peanut food challenges (OPFC) are the 'gold standard' for diagnosing peanut allergy in children. However, there are few data on parental perception of such challenges. We aimed to investigate the parental experience of and satisfaction with OPFC and reported dietary management of children with a history of peanut allergy following OPFC. Telephone interviews were conducted with parents of children who had undergone an open-label OPFC at a specialist paediatric allergy centre. Forty-six of 76 eligible parents participated. Of those parents, 54% were very satisfied with the OPFC. The highest levels of satisfaction were reported in relation to (i) clarification of the severity of the child's peanut allergy (ii) the support provided by staff and (iii) determining the child was tolerant of peanut or assessed to be at low risk of anaphylaxis from accidental peanut exposure. When the outcome of the challenge was perceived to be equivocal, levels of parental satisfaction were lower. Other areas of dissatisfaction included difficulties inducing peanut ingestion, parental distress at seeing their child unwell and perception of inadequate follow-up. Ninety-four per cent of parents could not remember the amount of peanut ingested, and 24% could not remember whether management advice was given after the OPFC or reported that none was given. Reported compliance with recalled advice to avoid peanut was found in all cases but one, whilst recalled advice to reintroduce peanuts following a negative challenge was followed in 5/9 cases. Although 12 parents reported that their child had an allergic reaction caused by accidental exposure to peanut since the OPFC, only four were certain peanut was the cause. Comprehensive education, counselling and follow-up subsequent to an OPFC are required. Parents of children whose challenge outcome is inconclusive should be targeted for support

Assessment of peanut allergy in children

The gold standard for the diagnosis of peanut allergy is the oral peanut food challenge (OPFC). However, OPFCs may cause anaphylaxis and could be negatively perceived by patients. Therefore peanut skin prick testing (SPT), serum peanut specific-IgE level or immediate-skin-application-food-testing (I-SAFT) are adjuvants in the diagnosis of peanut allergy. Cut-offs of tests that are predictive of peanut allergy have been proposed but are not thought to predict reaction severity. The relevance of a skin contact reaction with peanut in a peanut sensitised child is unclear. We prospectively determined the validity of reported diagnostic cutoff levels of peanut allergen skin tests and specific-IgE, and the usefulness of combining these. Eighty-four peanut sensitised children were included. Fifty-two of 85 OPFC were positive. SPT specificity was 67% at  8 mm and 100% at  15 mm. Combinations of a SPT of  8 mm with a positive I-SAFT and a peanut specific-IgE  0.37 kU/L were 88% specific and 38% sensitive. Thus combining available allergy tests does not improve their clinical usefulness. Previously described diagnostic cutoff levels do not have general applicability. Next we determined the frequency and significance of contact sensitivity to peanut in peanut sensitised children. I-SAFTs were performed with one gram of peanut butter in 281 peanut sensitised children and 41% were positive. No systemic reactions occurred following topical application of peanut butter. I-SAFT sensitivity and specificity was 50% and 82% respectively. Systemic reactions following peanut butter skin contact appear unlikely.The third study determined the usefulness of allergy tests for predicting the risk of anaphylaxis on challenge. Peanut sensitised children who completed open-label OPFCs were included. The challenge protocol provided for challenges to be continued beyond initial mild reactions. There were 34 in the control group and 21 who developed anaphylaxis. The mean peanut SPT size and specific-IgE level was associated with reaction severity on challenge. Therefore available tests for peanut allergy assist in predicting the risk of anaphylaxis during challenge in peanut sensitised children.Finally we investigated parental satisfaction with OPFC. Telephone interviews were conducted with parents whose children had undergone OPFC. Forty-six participated and 54% were very satisfied with the OPFC experience. When the challenge was perceived as equivocal parental satisfaction was lower. Recall of the amount of peanut ingested, outcome and management advice was poor. Comprehensive education and follow-up after OPFC is required especially when the challenge outcome is inconclusive

An insight into affected Australian parents' lived experiences with children's food allergy

Background: International research has documented the psychosocial impacts of food allergy on affected children and their families. Yet, there is limited or no Australian research on parents’ lived experiences of children’s food allergy. The purpose of this presentation is to provide an insight into Australian mothers’ perceptions and perspectives of children’s food allergy management. It will add to the body of knowledge on the medical management of food allergy by giving insights into parents’ personal, social and emotional components of children’s food allergy management. Method: This study was funded by Allergy & Anaphylaxis Australia. It employed a qualitative methodology. Only parents of young children aged between 4.5–5.5 years with a diagnosed food allergy and non-members of A&AA were recruited in the study. Using the Photo Elicitation Interview (PEI) method, 10 Australian mothers living in Sydney were interviewed on a range of topics, including managing children’s food allergy in their homes and communities. Results: The results revealed the psychosocial dynamics of food allergy management. Many mothers reported to be anxious, lacked confidence in the use of EpiPen or Anapen and highlighted the extra encumbrances associated with their children’s safe participation in social events. Further, they were also concerned about their young children’s capacity to take agency and control in staying safe. Conclusion: The broad implications of these findings are that there is a need to acknowledge the psychosocial impacts of children’s food allergy on families, in particular on mothers and offer the socio-emotional interventions that they need in adapting to and coping with children’s food allergy

Transition to school anxiety for mothers of children with food allergy : implications for educators

Parental concerns for the safety of their children with food allergy greatly increase once they reach ‘school age’, yet those concerns have not been investigated to date, despite the increasing attendance of children with food allergy in schools in Australia and globally. This pilot study explored 10 affected Australian mothers’ feelings and perspectives of their children’s transition to school. The results from Photo Elicitation Interviews revealed that mothers were anxious, concerned about their children’s safety, and they perceived food allergy risks to be comparatively greater in schools than in prior-to-school settings, especially in the school playground. Mothers had a myriad of concerns relating to trusting and transferring the responsibility for their children’s safety to school staff, as well as to the children themselves. Additionally, they were concerned about other parents’ negative attitudes towards food allergy or affected children and families, and normalising children’s school life with food allergy. Although based on a small sample, the findings have important implications for educators to ease parental anxiety and facilitate their child’s positive start to school

Starting School with Food Allergy: Listening to Parents' and Children's Voices!

Starting school is an important event in the lives of young children and their families. It can be complicated by an allergy towards food, depending on the severity of the allergy and the issues that surround the child’s safety outside the home. For instance, the increased risks of food allergy outside the home environment, combined with decreased parental supervision in child safety, can make families and children vulnerable to many psychosocial adjustments at the time of starting school. Also, parents may feel anxious about sending their children as young as four-and-a-half years old (starting age for schools in NSW) who may not fully understand what an allergic reaction is and therefore, may not alert their teacher if they experience one. Another issue of concern is about child inclusion and safe participation in various school activities and a young child’s inability to withstand peer pressure to accept unsafe foods in an attempt to conform and be like everyone else. Thus, starting school can be an emotionally challenging experience for families and children affected by food allergy (Sanagavarapu, 2012). However, there is no research to date that explored the feelings and perspectives of parents and children when beginning school with food allergy. Schools and educators need to understand the concerns of families and children and offer support to ease their smooth transition to school. Similarly, parents need to have confidence in the school’s capacity to deal with food allergy, knowing that there are State guidelines to prevent and manage food allergy in Australian schools. However, it is not clear whether parents are aware of these guidelines, what their views might be on the efficacy of them, and what support needed by children and their families when children start school with food allergy. In this context, this innovative pilot study aimed to: 1. Investigate the concerns, feelings, experiences and support needs of parents and children affected by food allergy when beginning school in Sydney, New South Wales (NSW) and 2. Explore parents’ awareness of and views on Anaphylaxis Procedures for Schools in NSW

Anaphylaxis Fatalities in Australia 1997 to 2013

Rationale The objective of this study was to determine whether Australian fatal anaphylaxis (FA) rates have increased in line with increases in hospital anaphylaxis admission rates. Methods Australian FA and hospital anaphylaxis admission rates were examined, using data derived from the Australian Institute of Health and Welfare and the Australian Bureau of Statistics over the period 1997-2013. Time trends were analyzed using Poisson regression with year (1997 to 2013) as a continuous predictor and total population as exposure variable. Results 323 cases of FA were reported in Australia between 1997 and 2013. Fatalities were attributed to; medication (52 cases), insect stings/tick bites (21 cases), food (23 cases), serum (3 cases) or unspecified cause (224 cases). Overall FA rates increased 1.8 fold from 0.05 (1997) to 0.09/100,000 (2013). FA increased 6.2% per year (95% CI: 3.8 to 8.6%, P<0.0001) and food-related FA increased 9.7% per year (95% CI: 0.25 to 20%, P=0.044). Total hospital anaphylaxis admissions (HAA) increased 3.9 fold, from 5.0 to 19.2/ 100,000 and food anaphylaxis admissions increased from 2.1 to 8.9 (4.2-fold) over the same period. HAA increased by 8.0% per year (95% CI: 7.8 to 8.3%, P<0.0001) and by 10.0% per year for food anaphylaxis admissions (95% CI: 9.9 to 10.6%, P<0.0001). Conclusions We report preliminary evidence of a rise in Australian FA (and food-related FA) rates comparable with increases in hospital admission rates. Our data contrast with recent UK and USA-based studies describing lower overall FA rates (0.047-0.069/100,000) and rising hospital anaphylaxis admission rates without a rise in fatalities