Implementing neurodevelopmental follow-up care for children with congenital heart disease: A scoping review with evidence mapping.

AIM: To identify and map evidence describing components of neurodevelopmental follow-up care for children with congenital heart disease (CHD). METHOD: This was a scoping review of studies reporting components of neurodevelopmental follow-up programmes/pathways for children with CHD. Eligible publications were identified through database searches, citation tracking, and expert recommendations. Two independent reviewers screened studies and extracted data. An evidence matrix was developed to visualize common characteristics of care pathways. Qualitative content analysis identified implementation barriers and enablers. RESULTS: The review included 33 studies. Twenty-one described individual care pathways across the USA (n = 14), Canada (n = 4), Australia (n = 2), and France (n = 1). The remainder reported surveys of clinical practice across multiple geographical regions. While heterogeneity in care existed across studies, common attributes included enrolment of children at high-risk of neurodevelopmental delay; centralized clinics in children's hospitals; referral before discharge; periodic follow-up at fixed ages; standardized developmental assessment; and involvement of multidisciplinary teams. Implementation barriers included service cost/resourcing, patient burden, and lack of knowledge/awareness. Multi-level stakeholder engagement and integration with other services were key drivers of success. INTERPRETATION: Defining components of effective neurodevelopmental follow-up programmes and care pathways, along with enhancing and expanding guideline-based care across regions and into new contexts, should continue to be priorities. WHAT THIS PAPER ADDS: Twenty-two different neurodevelopmental follow-up care pathways/programmes were published, originating from four countries. Twelve additional publications described broad practices for neurodevelopmental follow-up across regions Common attributes across eligibility, service structure, assessment processes, and care providers were noted. Studies reported programme acceptability, uptake, cost, and effectiveness. Implementation barriers included service cost/resourcing, patient burden, and lack of knowledge/awareness.

Geographical challenges and inequity of healthcare access for high-risk paediatric heart disease.

BACKGROUND: Geographical context is an important consideration for health system design to promote equality in access to care for patients with childhood heart disease (CHD), particularly those living in regional, rural, and remote areas. To help inform future policy and practice recommendations, this study aimed to (i) describe the geographic distribution of high-risk CHD patients accessing an Australian state-wide specialist service and (ii) estimate travel time for accessing healthcare via general practitioners (primary), nearest paediatric centre (secondary) and specialist paediatric cardiac centre (tertiary). METHODS: Participants included a cohort of children (0-18 year) who accessed state-wide specialist CHD services over a 3-year period (2019-2021) in Queensland, Australia. Locations for patient residence, general practitioner, closest paediatric centre and tertiary cardiac centre were mapped using geographical information system (GIS) software (ArcGIS Online). Travel distance and times were estimated using a Google Maps Application Programming Interface (API). RESULTS: 1019 patients (median age 3.8 years) had cardiac intervention and were included in the sample. Of this cohort, 30.2% lived outside the heavily urbanised South East Queensland (SEQ) area where the tertiary centre is located. These patients travel substantially further and longer to access tertiary level care (but not secondary or primary level care) compared to those in SEQ. Median distance for patients residing outside SEQ to access tertiary care was 953 km with a travel time of 10 h 43 min. This compares to 5.5 km to the general practitioner and 20.6 km to a paediatric service (8.9 and 54 min respectively). CONCLUSION: This geographical mapping of CHD services has demonstrated a key challenge inherent in providing specialist cardiac care to children in a large state-based healthcare system. A significant proportion of high-risk patients live large distances from tertiary level care. The greater accessibility of primary care services highlights the importance of supporting primary care physicians outside metropolitan areas to acquire or build the ability and capacity to care for children with CHD. Strengthening local primary and secondary services not only has the potential to improve the outcomes of high-risk patients, but also to reduce costs and burden associated with potentially avoidable travel from regional, rural, or remote areas to access specialist CHD services.

The Cost of Neurodevelopmental Disability: Scoping Review of Economic Evaluation Methods.

The provision of effective care models for children with neurodevelopmental delay or disability can be challenging in resource constrained healthcare systems. Economic evaluations have an important role in informing resource allocation decisions. This review systematically examined the scope and methods of economic models evaluating interventions for supporting neurodevelopment among children with common neurodevelopmental disorders and identified methods of economic models and presented policy implications. This scoping review employed the Arksey and O'Malley framework and aligned with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR). Four electronic databases were systematically searched to identify eligible model-based economic evaluations of neurodevelopmental care models published since 2000. The Consolidated Health Economic Evaluation Reporting Standards (CHEERS) checklist was used to assess quality of reporting. Data were systematically extracted, tabulated, and qualitatively synthesised across diagnostic categories. Searches identified 1431 unique articles. Twelve studies used a decision analytic model to evaluate care for neurodevelopmental disorders and were included in the review. Included studies focused on attention-deficit/hyperactivity disorder (ADHD, n=6), autism spectrum disorder (ASD, n=3), cerebral palsy (n=2), and dyslexia (n=1). The most used decision analytic modelling approach was a Markov model (n=6), followed by a decision tree (n=3), and a combination of decision tree and Markov model (n=3). Most studies (n=7) adopted a societal perspective for reporting costs. None of the reviewed studies modelled impact on families and caregivers. Four studies reported cost-savings, three identified greater quality of life, and three identified cost increases.

Single-View Echocardiography by Nonexpert Practitioners to Detect Rheumatic Heart Disease: A Prospective Study of Diagnostic Accuracy.

BACKGROUND: Echocardiographic screening can detect asymptomatic cases of rheumatic heart disease (RHD), facilitating access to treatment. Barriers to implementation of echocardiographic screening include the requirement for expensive equipment and expert practitioners. We aimed to evaluate the diagnostic accuracy of an abbreviated echocardiographic screening protocol (single parasternal-long-axis view with a sweep of the heart) performed by briefly trained, nonexpert practitioners using handheld ultrasound devices. METHODS: Participants aged 5 to 20 years in Timor-Leste and the Northern Territory of Australia had 2 echocardiograms: one performed by an expert echocardiographer using a GE Vivid I or Vivid Q portable ultrasound device (reference test), and one performed by a nonexpert practitioner using a GE Vscan handheld ultrasound device (index test). The accuracy of the index test, compared with the reference test, for identifying cases with definite or borderline RHD was determined. RESULTS: There were 3111 enrolled participants; 2573 had both an index test and reference test. Median age was 12 years (interquartile range, 10-15); 58.2% were female. Proportion with definite or borderline RHD was 5.52% (95% CI, 4.70-6.47); proportion with definite RHD was 3.23% (95% CI, 2.61-3.98). Compared with the reference test, sensitivity of the index test for definite or borderline RHD was 70.4% (95% CI, 62.2-77.8), specificity was 78.1% (95% CI, 76.4-79.8). CONCLUSIONS: Nonexpert practitioners can be trained to perform single parasternal-long-axis view with a sweep of the heart echocardiography. However, the specificity and sensitivity are inadequate for echocardiographic screening. Improved training for nonexpert practitioners should be investigated.

Balloon dilatation versus surgical valvotomy for congenital aortic stenosis: a propensity score matched study.

BACKGROUND: Balloon valvuloplasty and surgical aortic valvotomy have been the treatment mainstays for congenital aortic stenosis in children. Choice of intervention often differs depending upon centre bias with limited relevant, comparative literature. OBJECTIVES: This study aims to provide an unbiased, contemporary matched comparison of these balloon and surgical approaches. METHODS: Retrospective analysis of patients with congenital aortic valve stenosis who underwent balloon valvuloplasty (Queensland Children's Hospital, Brisbane) or surgical valvotomy (Royal Children's Hospital, Melbourne) between 2005 and 2016. Patients were excluded if pre-intervention assessment indicated ineligibility to either group. Propensity score matching was performed based on age, weight, and valve morphology. RESULTS: Sixty-five balloon patients and seventy-seven surgical patients were included. Overall, the groups were well matched with 18 neonates/25 infants in the balloon group and 17 neonates/28 infants in the surgical group. Median age at balloon was 92 days (range 2 days - 18.8 years) compared to 167 days (range 0 days - 18.1 years) for surgery (rank-sum p = 0.08). Mean follow-up was 5.3 years. There was one late balloon death and two early surgical deaths due to left ventricular failure. There was no significant difference in freedom from reintervention at latest follow-up (69% in the balloon group and 70% in the surgical group, p = 1.0). CONCLUSIONS: Contemporary analysis of balloon aortic valvuloplasty and surgical aortic valvotomy shows no difference in overall reintervention rates in the medium term. Balloon valvuloplasty performs well across all age groups, achieving delay or avoidance of surgical intervention.

Neurodevelopmental and health-related quality-of-life outcomes in adolescence after surgery for congenital heart disease in infancy.

AIM: To assess outcomes in adolescence after surgery for congenital heart disease (CHD) in infancy. Domains analysed included cognition and executive function, social and emotional well-being, adaptive behaviour, academic achievement, and health-related quality of life (HRQoL). METHOD: Twenty-one participants (10 males, 11 females) ranged in age from 14 to 17 years (mean 15y 4.8mo, SD 8.4mo). Twenty had biventricular repairs. All were classified as New York Heart Association class I. Measures included: Wechsler Intelligence and Achievement scales; Wide Range Assessment of Memory and Learning, Second Edition; California Verbal Learning Test - Children's Version; Behaviour Rating Inventory of Executive Function; Conners, Third Edition; Adaptive Behavior Assessment System, Second Edition; Behavior Assessment System for Children, Second Edition; Rey-Osterrieth Complex Figure; and Pediatric Quality of Life Inventory. RESULTS: Outcomes were significantly lower (p≤0.01) than population norms for processing speed, mathematical achievement, attention, and visual-spatial ability. Participants reported more frequent learning problems but more positive family relations. HRQoL was significantly lower across most domains by self- and parent-proxy report. INTERPRETATION: Individuals with CHD may experience difficulties across a range of domains. These findings emphasize the importance of comprehensive screening, early intervention, and long-term follow-up, as deficits may extend into young adulthood. WHAT THIS PAPER ADDS: Identified cognitive, learning, and attentional impairments in adolescents after congenital heart disease surgery in infancy. Combined self-report, caregiver report, and laboratory tasks in a comprehensive neurodevelopmental assessment protocol. Health-related quality of life was lower across most domains.

Balloon Aortic Valvuloplasty for Congenital Aortic Stenosis: A 14-Year Single Centre Review.

BACKGROUND: The approach to intervention for congenital aortic valve stenosis (AS) differs depending upon centre bias toward a primary catheter or surgical approach. We therefore investigated associations with freedom from re-intervention (FFI) in the cohort of children who underwent primary balloon aortic valvuloplasty (BAV) for congenital AS in our centre. METHODS: All patients who underwent BAV as a primary procedure in the period between 2001 and 2015 in a single service were included. Echocardiographic parameters before and after catheterisation and procedural data was collected on all patients. RESULTS: Sixty-four (64) patients underwent BAV as the primary intervention during the study period. Follow-up data was available for 60 of these. Balloon aortic valvuloplasty was performed at a median age of 143 days (range 2 days-18.8 years). Freedom from re-intervention was observed in 75% of patients with a median follow-up of 6.8 years and a mean follow-up of 3 years. Catheter-based peak-to-peak aortic valve gradients decreased from 58±15.9mmHg to 22.9±13.1mmHg. There was no short- or long-term mortality. FFI was predicted by aortic valve morphology (p<0.01), post-BAV mean echo gradient (p=0.03) and post-BAV regurgitation (p<0.01). No patient had re-intervention for restenosis with post-BAV mean echo gradient <30mmHg. Catheter gradients before and after BAV approached significance for predicting FFI (p=0.06 and p=0.09 respectively). Fifteen (15) patients were neonates with significantly lower aortic valve (AoV) Z-scores (mean 0.63 vs 1.76, p=0.002) and no difference in FFI (p=0.19). Annulus size, balloon/annulus ratio (within the range utilised) and pre-BAV echo findings were not predictive for re-intervention. CONCLUSIONS: Balloon aortic valvuloplasty is an effective primary approach to congenital valvular AS with the potential of avoiding surgical intervention in the majority of patients at all ages. Freedom from re-intervention in our cohort was associated with valve morphology and the degree of stenosis and regurgitation immediately post BAV.

Outcomes of Radiofrequency Perforation for Pulmonary Atresia and Intact Ventricular Septum: A Single-Centre Experience.

Percutaneous radiofrequency perforation (RFP) of the pulmonary valve is used as a primary therapy in neonates with pulmonary atresia and intact ventricular septum (PAIVS). We sought to determine the safety and efficacy of RFP for PAIVS in a single center and assess the pre-intervention anatomical parameters associated with a biventricular outcome. We retrospectively reviewed all cases of PAIVS treated with RFP at a single center from 1999 through 2012. We collected baseline imaging data, technical aspects of the procedure, adverse events and outcomes. RFP was attempted in 18 patients with 17 successful procedures. There was no mortality; one patient had an acute complication requiring surgical intervention. All were alive at the most recent follow-up (median 4.9 years; IQR = 2.0-6.8 years), 12/17 (71%) had a biventricular circulation, 2/17 (12%) had a 1½ ventricle repair, 2/17 (12%) had a univentricular repair and 1/17 was lost to follow-up. A biventricular outcome in patients with PAIVS was associated with the pre-intervention tricuspid valve/mitral valve (TV/MV) ratio and tricuspid valve (TV) z-score. The median TV/MV ratio for patients who underwent a biventricular repair and a non-biventricular repair was 0.82 (IQR = 0.71-0.90) and 0.59 (IQR = 0.39-0.76), P = 0.036, respectively. The median TV z-scores were -3.2 [(-4.9 to -2.6), and -6.8 (-9.7 to -4.8] P = 0.036 for the biventricular and non-biventricular groups, respectively. RFP is a safe primary therapy for PAIVS. With appropriate patient selection, RFP will often result in a biventricular circulation. Both the TV/MV and TV z-score were found to be a predictor of a biventricular outcome in our cohort.

Blurring the lines in interferon {gamma} receptor deficiency: an infant with near-fatal airway disease.

Deficiencies of the interferon γ (IFN-γ) pathway have become a well-recognized cause of nontuberculous mycobacterial infection. We report here a case of autosomal dominant IFN-γ receptor 1 (IFN-γ-R1) deficiency presenting at the unusually young age of 16 months with a severe clinical course. Mycobacterium avium complex was cultured from bronchial washings of a child who presented with primary endobronchial disease after a 4-month history of rhinorrhea, wheeze, and acute lobar consolidation. A maternal history of multifocal Mycobacterium kansasii osteomyelitis and cutaneous M avium complex led to genetic confirmation of IFN-γ-R1 818del4 deletion (a 4 base pair deletion at nucleotide position 818) in both family members. This case demonstrates the link between mycobacterial disease and IFN-γ pathway deficiency, the diagnosis of which facilitates more accurate therapy and genetic counseling. The case also raises questions about the reported distinct presentation, treatment, and prognosis of autosomal dominant and recessive IFN-γ-R1 phenotypes.