Prader-Willi syndrome: guidance for children and transition into adulthood.

Prader-Willi syndrome (PWS) is a rare orphan disease and complex genetic neurodevelopmental disorder, with a birth incidence of approximately 1 in 10,000-30,000. Management of people with PWS requires a multi-disciplinary approach, ideally through a multi-disciplinary team (MDT) clinic with community support. Hypotonia, poor feeding and faltering growth are characteristic features in the neonatal period, followed by hyperphagia and risk of rapid weight gain later in childhood. Children and adolescents (CA) with PWS usually display developmental delay and mild learning disability and can develop endocrinopathies, scoliosis, respiratory difficulties (both central and obstructive sleep apnoea), challenging behaviours, skin picking, and mental health issues, especially into adulthood. This consensus statement is intended to be a reference document for clinicians managing children and adolescents (up to 18 years of age) with PWS. It considers the bio-psycho-social domains of diagnosis, clinical assessment, and management in the paediatric setting as well as during and after transition to adult services. The guidance has been developed from information gathered from peer-reviewed scientific reports and from the expertise of a range of experienced clinicians in the United Kingdom and Ireland involved in the care of patients with PWS.

Bronchiolitis: evidence-based management in high-risk infants in the intensive care setting.

AIM: Systematically review the management of infants with severe bronchiolitis in a paediatric intensive care unit (PICU) setting with a focus on high-risk infants to identify gaps in evidence-based knowledge. METHODS: This systematic review utilised Preferred Reporting Items for Systematic Review and Meta-analysis Protocols (PRISMA-P) to examine the literature on the PICU management of bronchiolitis in infants <24 months old. Three databases, Embase, PubMed and Medline, were searched and higher levels of evidence I, II and III were included. RESULTS: There were 455 papers reviewed and 26 met the inclusion criteria. Furthermore, 19 of these studied respiratory interventions such as positive airway pressure and oxygen delivery. The remaining 7 examined: erythropoietin, caffeine, dexamethasone, protein supplementation, ribavirin, respiratory syncytial virus immune globulin, or diuretic therapy. Of the 26 studies, 20 excluded infants with high-risk conditions. Therapies showing favourable outcomes included Heliox, prophylactic dexamethasone pre-extubation, protein supplementation, and diuretic use. CONCLUSIONS: Clinical trials for bronchiolitis management frequently exclude high-risk children. Innovative study design in the future may improve access to clinical trials for the management of bronchiolitis in high-risk infants in a PICU setting. IMPACT: Clinical trials for bronchiolitis management frequently exclude high-risk children. We review the evidence base for the management of an under-investigated patient demographic in the setting of acute bronchiolitis. Randomised controlled trials are needed to determine the efficacy of management strategies for bronchiolitis in high-risk infants in a paediatric intensive care setting.

Biomarkers in retinopathy of prematurity: a systematic review and meta-analysis.

Aim: Retinopathy of prematurity is a significant global cause of childhood blindness. This study aims to identify serum biomarkers that are associated with the development of ROP. Methods: A systematic review and meta-analysis was conducted using PRISMA guidelines. Three databases were searched (Pubmed, Scopus and Web of Science) from 2003 to March 2023. Only studies investigating serum biomarker levels in preterm infants (<37 weeks gestation) were included. Results: Meta-analysis suggests that low serum IGF-1 levels have a strong association with the development of ROP [SMD (95% CI) of -.46 [-.63, -.30], p < .001]. Meta-analysis suggests that higher serum glucose levels were associated with the development of ROP [SMD (95% CI) of 1.25 [.94, 1.55], p < .001]. Meta-analysis suggests that thrombocytopenia is associated with the development of ROP [SMD (95% CI) of -.62 [-.86, -.37], p < .001]. Conclusion: Low levels of serum IGF-1, high levels of serum glucose and thrombocytopenia all appear to have the strongest association with the development of ROP out of the 63 biomarkers investigated in this review. These associations highlight their potential use as diagnostic biomarkers in ROP, though further research is needed to establish the exact relationship between these biomarkers and disease pathogenesis.

Diuretics use in the management of bronchopulmonary dysplasia in preterm infants: A systematic review.

AIM: Bronchopulmonary dysplasia (BPD), a respiratory complication associated with neonatal prematurity, presents opportunities for pharmacological intervention due to its contributing risk factors. Despite diuretics' controversial usage in BPD treatment and varying institutional practices, this review aims to consolidate evidence from clinical trials regarding diuretic use in BPD. METHODS: We conducted a systematic review following PRISMA guidelines, searching EMBASE, Medline, Web of Science and CINAHL databases (PROSPERO 2022: CRD42022328292). Covidence facilitated screening and data extraction, followed by analysis and formatting in Microsoft Excel. RESULTS: Among 430 screened records, 13 were included for analysis. Three studies assessed spironolactone and chlorothiazide combinations, two studied spironolactone and hydrochlorothiazide, while eight examined furosemide. All studies evaluated drug effects on dynamic pulmonary compliance and pulmonary resistance, serving as comparative measures in our review. CONCLUSION: Diuretics' effectiveness in treating bronchopulmonary dysplasia remains uncertain. The limited number of identified randomised controlled trials (RCTs) hampers high-level evidence-based conclusions when applying the Population, Intervention, Comparison, Outcome (PICO) approach. Conducting large prospective studies of good quality could provide more definitive insights, but the rarity of outcomes and eligible patients poses challenges. Further research, primarily focusing on RCTs assessing diuretics' safety and efficacy in this population, is warranted.

Adolescents, parents, and providers' experiences of triadic encounters in paediatric diabetes clinics: A qualitative study.

INTRODUCTION: Adolescents with Type 1 diabetes are a cohort whose self-management of their diabetes care often declines during adolescence which can lead to adverse health outcomes. Research indicates that providers find it challenging to engage adolescents in communication exchanges during triadic encounters in diabetes clinics. Our study aimed to explore adolescents, parents, and providers' experiences of clinic encounters. METHODS: A qualitative study was conducted with a convenience sample of 13 adolescents with Type 1 diabetes (aged 11-17), 14 parents, and seven providers. Participants were recruited from two outpatient diabetes clinics in two urban children's hospitals, Ireland. Data were obtained using a combination of interviews and focus groups. Data were analysed thematically. RESULTS: Adolescents and their parents appeared to hold both positive and negative experiences of diabetes clinic encounters. Providers reported challenges associated with engaging adolescents in communication exchanges. The structure, focus and style of clinic encounters created barriers that potentially led to suboptimal adolescent participation and impaired provider-adolescent communication during clinic visits. CONCLUSIONS: The findings provide insights into the challenges associated with adolescents' engagement in communication encounters in diabetes clinics. Healthcare providers could encourage adolescents to be more actively involved in their diabetes management, by taking an adolescent-centred approach and creating a nonjudgemental milieu. Focusing on adolescent's agenda could lead to more meaningful and relevant discussions between providers and adolescents and ensure more tailored education in the time available. Adolescence is a risky period for nonadherence and adverse health complications; therefore, it is critical that providers make every contact count in diabetes clinic encounters. PATIENT OR PUBLIC INVOLVEMENT: The study's design and delivery were guided by two advisory groups, comprising (1) five adolescents living with Type 1 diabetes (T1D) and (2) five parents of an adolescent with T1D.

The incidence of type 1 diabetes in children under 15 years of age is rising again-a nationwide study.

International incidence rates (IRs) and trends of childhood type 1 diabetes (T1D) vary. Recent data from Ireland and other high incidence countries suggested a stabilisation in IRs of T1D in children aged under 15 years. Our primary objective was to report the IR of T1D in children in Ireland from 2019 to 2021 and evaluate if age, sex and season of diagnosis had changed. Incident cases of T1D in those aged under 15 years were identified prospectively by clinicians nationally and reported to the Irish Childhood Diabetes National Register (ICDNR). Following case verification, capture-recapture methodology was applied, and IRs calculated. Numbers of children including age, sex and season of diagnosis per year were evaluated. There were 1027 cases, 542 males (53%). The direct standardised incidence rates (SIRs) increased by 21% overall and were 31.1, 32.2 and 37.6/100,000/year, respectively, with no significant sex difference. The highest IRs were in the 10-14-year category until 2021, then changed to the 5-9-year category (40% of cases). Whilst autumn and winter remain dominant diagnostic seasons, seasonality differed in 2021 with a greater number presenting in spring. CONCLUSION: The incidence of childhood T1D in Ireland is increasing, observed prior to the COVID-19 pandemic, and shifting to an earlier age at diagnosis for the first time. The pattern of seasonality also appears to have changed. This may reflect an increased severity of diabetes with important implications for healthcare providers. WHAT IS KNOWN: • Ireland has a very high incidence of T1D in childhood, which had stabilised following a rapid rise, similar to other high incidence countries. • The incidence rate is consistently highest in older children (10-14 years). WHAT IS NEW: • Irish IR is no longer stable and has increased again, with the highest incidence occurring in the younger 5-9 age category for the first time. • The seasonality of diagnosis has changed during the COVID-19 pandemic years of 2020-2021.

Neonatal sepsis definitions from randomised clinical trials.

INTRODUCTION: Neonatal sepsis is a leading cause of infant mortality worldwide with non-specific and varied presentation. We aimed to catalogue the current definitions of neonatal sepsis in published randomised controlled trials (RCTs). METHOD: A systematic search of the Embase and Cochrane databases was performed for RCTs which explicitly stated a definition for neonatal sepsis. Definitions were sub-divided into five primary criteria for infection (culture, laboratory findings, clinical signs, radiological evidence and risk factors) and stratified by qualifiers (early/late-onset and likelihood of sepsis). RESULTS: Of 668 papers screened, 80 RCTs were included and 128 individual definitions identified. The single most common definition was neonatal sepsis defined by blood culture alone (n = 35), followed by culture and clinical signs (n = 29), and then laboratory tests/clinical signs (n = 25). Blood culture featured in 83 definitions, laboratory testing featured in 48 definitions while clinical signs and radiology featured in 80 and 8 definitions, respectively. DISCUSSION: A diverse range of definitions of neonatal sepsis are used and based on microbiological culture, laboratory tests and clinical signs in contrast to adult and paediatric sepsis which use organ dysfunction. An international consensus-based definition of neonatal sepsis could allow meta-analysis and translate results to improve outcomes.

Encouraging adolescents' participation during paediatric diabetes clinic visits: Design and development of a question prompt list intervention.

AIMS: To investigate adolescents' communication with healthcare providers (HCPs) and co- design a question prompt list as one part of an intervention to increase patient participation and communication at diabetes clinic visits. METHODS: Using an adolescent-led co-design approach we conducted interviews and focus groups with adolescents, parents, and healthcare providers (HCPs) and held workshops with both a Youth Advisory Group (YAG) and a Parent Advisory Group (PAG). RESULTS: Adolescents and parents identified challenges categorised into four themes: negative experience communicating with HCPs, lacking patient education leading to disinterest, low self-confidence out of fear of being wrong and forgetting to ask question(s). Adolescents identified that a Question Prompt List (QPL) could help them to ask questions, be more confident and participate more. The design process was an iterative development that engaged all stakeholders. Parents and HCPs assumed adolescents had greater knowledge about diabetes than they had in reality. CONCLUSIONS: Divergence in perceptions between adults and adolescents regarding patient knowledge of diabetes care demonstrates the importance of encouraging adolescents to ask the questions that matter to them. The QPL could be a useful means of supporting adolescents to actively participate in clinic encounters with healthcare providers.

Timing of Puberty, Pubertal Growth, and Adult Height in Short Children Born Small for Gestational Age Treated With Growth Hormone.

CONTEXT: Growth hormone (GH) is used to treat short children born small for gestational age (SGA); however, the effects of treatment on pubertal timing and adult height are rarely studied. OBJECTIVE: To evaluate adult height and peak height velocity in short GH-treated SGA children. METHODS: Prospective longitudinal multicenter study. Participants were short children born SGA treated with GH therapy (n = 102). Adult height was reported in 47 children. A reference cohort of Danish children was used. Main outcome measures were adult height, peak height velocity, age at peak height, and pubertal onset. Pubertal onset was converted to SD score (SDS) using Danish reference data. RESULTS: Gain in height SDS from start of treatment until adult height was significant in both girls (0.94 [0.75; 1.53] SDS, P = .02) and boys (1.57 [1.13; 2.15] SDS, P < .001). No difference in adult height between GH dosage groups was observed. Peak height velocity was lower than a reference cohort for girls (6.5 [5.9; 7.6] cm/year vs 7.9 [7.4; 8.5] cm/year, P < .001) and boys (9.5 [8.4; 10.7] cm/year vs 10.1 [9.7; 10.7] cm/year, P = .002), but no difference in age at peak height velocity was seen. Puberty onset was earlier in SGA boys than a reference cohort (1.06 [-0.03; 1.96] SDS vs 0 SDS, P = .002) but not in girls (0.38 [-0.19; 1.05] SDS vs 0 SDS, P = .18). CONCLUSION: GH treatment improved adult height. Peak height velocity was reduced, but age at peak height velocity did not differ compared with the reference cohort. SGA boys had an earlier pubertal onset compared with the reference cohort.

Neonatal sepsis: a systematic review of core outcomes from randomised clinical trials.

BACKGROUND: The lack of a consensus definition of neonatal sepsis and a core outcome set (COS) proves a substantial impediment to research that influences policy and practice relevant to key stakeholders, patients and parents. METHODS: A systematic review of the literature was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. In the included studies, the described outcomes were extracted in accordance with the provisions of the Core Outcome Measures in Effectiveness Trials (COMET) handbook and registered. RESULTS: Among 884 abstracts identified, 90 randomised controlled trials (RCTs) were included in this review. Only 30 manuscripts explicitly stated the primary and/or secondary outcomes. A total of 88 distinct outcomes were recorded across all 90 studies included. These were then assigned to seven different domains in line with the taxonomy for classification proposed by the COMET initiative. The most frequently reported outcome was survival with 74% (n = 67) of the studies reporting an outcome within this domain. CONCLUSIONS: This systematic review constitutes one of the initial phases in the protocol for developing a COS in neonatal sepsis. The paucity of standardised outcome reporting in neonatal sepsis hinders comparison and synthesis of data. The final phase will involve a Delphi Survey to generate a COS in neonatal sepsis by consensus recommendation. IMPACT: This systematic review identified a wide variation of outcomes reported among published RCTs on the management of neonatal sepsis. The paucity of standardised outcome reporting hinders comparison and synthesis of data and future meta-analyses with conclusive recommendations on the management of neonatal sepsis are unlikely. The final phase will involve a Delphi Survey to determine a COS by consensus recommendation with input from all relevant stakeholders.

Melatonin as an immunomodulator in children with Down syndrome.

BACKGROUND: Down syndrome (DS) is a disorder characterised by marked immune dysfunction, increased mortality from sepsis, chronic inflammation, increased oxidative stress, sleep disturbance and possibly abnormal endogenous melatonin levels. Melatonin has a myriad of immune functions, and we hypothesised that this therapeutic agent could modulate the innate immune system in this cohort. METHODS: We investigated neutrophil and monocyte function (CD11b, TLR4 expression by flow cytometry), genes involved in TLR signalling (MyD88, IRAK4, TRIF), the inflammasome (NLRP3, IL-1ß), and circadian rhythm (BMAL, CLOCK, CRY) by qPCR, and inflammatory cytokines (IL-2, IL-6, IL-8, IL-18, IL-1ß, TNF-α, IFN-γ, IL-10, IL-1ra, VEGF, Epo, GM-CSF) by enzyme-linked immunosorbent assay (ELISA) following immunomodulation with LPS endotoxin and melatonin. 47 children with DS and 23 age- and sex-matched controls were recruited. RESULTS: We demonstrated that melatonin has several significant effects by reducing CD11b and TLR4 expression, attenuating TLR signalling, genes involved in the inflammasome and has the potential to reduce LPS-induced inflammatory responses. CONCLUSIONS: Immunomodulatory effects of melatonin were found in both paediatric cohorts with more marked effects in the children with DS. Melatonin mediates immune response through a wide array of mechanisms and this immunomodulator may buffer the inflammatory response by regulating pro and anti-inflammatory signalling. IMPACT: We highlight that melatonin mediates its immune response through a wide array of mechanisms, its effects appear to be dose dependant and children with Down syndrome may be more receptive to treatment with it. Immunomodulatory effects of melatonin were demonstrated with marked effects in the children with Down syndrome with a reduction of MyD88, IL-1ß and NLRP3 expression in whole-blood samples. Melatonin is a proposed anti-inflammatory agent with a well-established safety profile, that has the potential for mitigation of pro- and anti-inflammatory cytokines in paediatric Down syndrome cohorts, though further clinical trials are warranted.

Pulmonary haemorrhage in neonates: Systematic review of management.

AIM: Pulmonary haemorrhage (PH) is an acute catastrophic event with low incidence yet high mortality among neonates. We aimed to systematically review the management of PH. METHODS: A search was carried out of the PubMed, EMBASE and Cochrane databases according to the PRISMA guidelines. Data were extracted on study design and size, patient demographics, primary and adjunctive treatment methods, and treatment outcomes. RESULTS: Sixteen studies with 385 newborn infants were included and were significantly heterogeneous regarding treatment methods. Primary treatments included surfactant, high-frequency oscillatory ventilation (HFOV), epinephrine, coagulopathy management, intermittent positive pressure ventilation, cocaine and tolazoline. Adjunctive treatment methods included blood products, HFOV, increased positive end-expiratory pressure, vitamin K, surfactant, adrenaline, vasopressors and inotropes. All five studies using surfactant as primary treatment were effective in improving oxygenation index measures and preventing recurrence of PH, and three studies found no association between surfactant and death or long-term disability. Ventilatory support, epinephrine, management of coagulopathy and tolazoline were all found to be effective primary treatments for PH. CONCLUSION: There are several effective methods of managing PH in neonates. Further understanding of the aetiology of PH and ongoing research will allow future prevention and improvements in management of PH.

Multi-Organ Dysfunction in Cerebral Palsy.

Cerebral Palsy (CP) describes a heterogenous group of non-progressive disorders of posture or movement, causing activity limitation, due to a lesion in the developing brain. CP is an umbrella term for a heterogenous condition and is, therefore, descriptive rather than a diagnosis. Each case requires detailed consideration of etiology. Our understanding of the underlying cause of CP has developed significantly, with areas such as inflammation, epigenetics and genetic susceptibility to subsequent insults providing new insights. Alongside this, there has been increasing recognition of the multi-organ dysfunction (MOD) associated with CP, in particular in children with higher levels of motor impairment. Therefore, CP should not be seen as an unchanging disorder caused by a solitary insult but rather, as a condition which evolves over time. Assessment of multi-organ function may help to prevent complications in later childhood or adulthood. It may also contribute to an improved understanding of the etiology and thus may have an implication in prevention, interventional methods and therapies. MOD in CP has not yet been quantified and a scoring system may prove useful in allowing advanced clinical planning and follow-up of children with CP. Additionally, several biomarkers hold promise in assisting with long-term monitoring. Clinicians should be aware of the multi-system complications that are associated with CP and which may present significant diagnostic challenges given that many children with CP communicate non-verbally. A step-wise, logical, multi-system approach is required to ensure that the best care is provided to these children. This review summarizes multi-organ dysfunction in children with CP whilst highlighting emerging research and gaps in our knowledge. We identify some potential organ-specific biomarkers which may prove useful in developing guidelines for follow-up and management of these children throughout their lifespan.

Dietary intake and growth in children with Prader-Willi syndrome.

BACKGROUND: The management of Prader-Willi Syndrome (PWS) requires strict dietary supervision to prevent obesity, avoid micronutrient deficiencies and ensure optimal growth. The present study aimed to examine the growth and dietary intake of children with PWS. METHODS: All children with genetically confirmed PWS attending Children's Health Ireland (CHI) at Tallaght (n = 44) were invited to participate. Anthropometry was performed and body composition measured using bioelectrical impedance analysis. Three-day food diaries were used to evaluate dietary intake and the presence of early feeding issues was assessed. Serum haemoglobin, ferritin and vitamin D levels were measured. RESULTS: Nineteen children participated, with a mean (range) age of 7.6 (0.6-18.1) years. Most were female (n = 14, 74%). Twenty-percent (n = 3) were underweight, 60% (n = 9) were healthy weight, n = 1 was overweight and n = 2 were obese. Mean (range) percentage body fat was 25.7% (10%-40%). Eigthy-three percent reported early feeding issues. Ninety-four percent (n = 16) achieved ≤ 100% of estimated average requirement (EAR) for energy. Mean daily energy intake for ≤ 5 years old was 722 kcal (9 kcal cm-1 /72-112% EAR); for those ≥ 12 years, it was 1203 kcal (8.3 kcal cm-1 /41%-82% EAR). Suboptimal calcium, vitamin D, iron, zinc and fibre intake was evident. Iron deficiency anaemia and vitamin D insufficiency occurred in two children. CONCLUSIONS: The present study provides the first Irish data for PWS and shows that energy intake does not appear to be excessive, with four in five patients being underweight or of a normal BMI. Suboptimal dietary intake of several micronutrients was evident and biochemical nutrient deficiencies were present.

Incidence of childhood type 1 diabetes mellitus in Ireland remains high but no longer rising.

AIM: The global incidence of type 1 diabetes mellitus (T1DM) varies considerably geographically. Ireland has a high incidence of T1DM. Incidence accelerated between 1997 and 2008, although more recent data (2008-2013) suggested stabilisation in the incidence rate (IR). This study sought to determine IRs for 2014 to 2018. METHODS: Incident cases were prospectively recorded through the established Irish Childhood Diabetes National Register (ICDNR). Cases were verified, and IRs were calculated. Capture-recapture methodology was identical to previous studies. Age and seasonality data were compared. RESULTS: A total of 1429 cases were reported (age range 0.45-14.98 years), with significantly more males (772, 54%) and male-to-female ratio of 1.17 (95% CI 1.05, 1.29). Standardised IRs for T1DM in the period were 28.0; 29.6; 30.9; 27.0; and 27.1/100,000/year, respectively. There was a slight reduction in standardised IR, more marked in females than males (9.9% v 1.6%). The highest IR remains in the 10- to 14-year-old age group (44% of total cases). Seasonality of diagnosis is persistently higher in autumn and winter. CONCLUSION: Ireland remains a high incidence country, despite a minor reduction in incidence rates. Ongoing incidence monitoring through national registers is vital to inform healthcare services, research relating to aetiology and paediatric diabetes management.

Developing a video intervention to improve youth question-asking and provider education during paediatric diabetes clinic encounters: The Promoting Adolescents Communication and Engagement study.

BACKGROUND: Research on long-term health conditions indicates that adolescents are not actively involved during their medical visits. Active involvement is essential because this can help adolescents learn how to self-manage their treatment plan. OBJECTIVE: To co-design a video intervention to improve youth question-asking and provider education during paediatric diabetes visits. PATIENT INVOLVEMENT: A participatory-led approach was used to co-design the video, through a combination of interviews/ focus groups and the establishment of a Youth Advisory Group. METHODS: First, focus groups and one-to-one interviews were held with adolescents, parents and healthcare providers. Second, two workshops were held with the Youth Advisory Group, Parent Advisory Group and stakeholders on script design. Finally, an iterative development of the video took place between the research team, videographer, both advisory groups and the steering committee. There were three rounds of feedback before the video was finalised. RESULTS: Adolescents' content preferences included: 1) message of empowerment; 2) managing your diabetes so you can get on with the fun stuff in life; 3) Promoting independence; 4) Reasons for not speaking at clinic visits and reassurance; 5) Becoming comfortable to speak and ask questions at clinic visits; 6) Practical advice on how to ask questions. Formatting preferences included that the video should be short, divided into segments, with adolescents with diabetes acting in it, and speaking directly to the camera. DISCUSSION: Identifying and reflecting adolescents' needs and preferences for engagement with healthcare providers was critical in the development process. Adolescents' participation in the co-design process was pivotal to the acceptability of the intervention for adolescents with diabetes. PRACTICAL VALUE: The intervention may increase adolescents' participation in communication and interactions with healthcare providers, which may help them to be more active in the self-management of their condition.

Prader-Willi Syndrome in children: Quality of life and caregiver burden.

Prader-Willi syndrome is a complex condition requiring constant care and supervision of the affected child. AIM: To evaluate quality of life and caregiver burden in children with Prader-Willi syndrome. METHODS: All children with Prader-Willi syndrome, attending a tertiary referral centre, were invited to participate (n = 44). Quality of life was evaluated using the PedsQL questionnaire. Family impact modules and parent proxy reports evaluated the impact on the quality of life of the child and family. Additional challenges were captured using a burden questionnaire. RESULTS: Nineteen children participated. Median age was 7.9 years (0.6-18.1 years). Majority were female (n = 14, 74%). Median age at diagnosis was 2.5 weeks (range birth-2 years 8 months). Growth hormone treatment was in place for the majority (n = 14, 74%). Increased weight and age were identified as significantly impacting on family functioning and relationships. Parents perceived increased weight and age to have a significant negative impact on their child's psychosocial health and social functioning. Caregivers of children >12 years reported an increased burden of care. Disruption to routines, restriction of social activities and psychological difficulties were reported as increasing caregiver burden. CONCLUSION: Prader-Willi syndrome impacts significantly on quality of life for both the affected child and the family.