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Neurodevelopmental Outcomes in Children with Complex Congenital Heart Disease

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Jennifer Bragg
Jennifer Bragg
Jennifer Bragg
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Purpose of Review The purpose of this article is to better understand the challenges that children with congenital heart disease (CHD) face and the elements that put them at higher risk, and also to review existing interventions and discuss how they impact long-term neurodevelopment. Recent Findings Approximately 1–2% of all children are born each year with CHD, and survival into adulthood now surpasses 80%. It has thus become increasingly more important to recognize and manage the common complications seen in this population. There are a number of factors that contribute to increased risk for adverse neurodevelopmental outcomes, including underlying genetic abnormalities, altered cerebral blood flow, pre- and post-operative factors, sub-optimal nutrition, parental stress, and socioeconomic considerations. These are important to recognize and address where possible. It is now also apparent that there is a unique pattern of neurodevelopmental delays seen in this population and they encompass motor, language, cognitive, executive function, adaptive, behavioral, and autism spectrum disorder parameters. Summary CHD affects many individuals and the neurodevelopmental impact is not insignificant. Early identification and management through cardiac neurodevelopmental programs and support through programs such as early intervention are critical to optimizing the neurodevelopmental outcomes and quality of life of individuals with CHD. Future directions should include further research into what impacts neurodevelopmental outcomes in children with CHD and how to intervene.
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NEONATOLOGY (C JULIANO, SECTION EDITOR)
Neurodevelopmental Outcomes in Children with Complex
Congenital Heart Disease
Jennifer Bragg
1
Published online: 17 April 2019
#Springer Science+Business Media, LLC, part of Springer Nature 2019
Abstract
Purpose of Review The purpose of this article is to better understand the challenges that children with congenital heart disease
(CHD) face and the elements that put them at higher risk, and also to review existing interventions and discuss how they impact
long-term neurodevelopment.
Recent Findings Approximately 1–2% of all children are born each year with CHD, and survival into adulthood now surpasses
80%. It has thus become increasingly more important to recognize and manage the common complications seen in this popu-
lation. There are a number of factors that contribute to increased risk for adverse neurodevelopmental outcomes, including
underlying genetic abnormalities, altered cerebral blood flow, pre- and post-operative factors, sub-optimal nutrition, parental
stress, and socioeconomic considerations. These are important to recognize and address where possible. It is now also apparent
that there is a unique pattern of neurodevelopmental delays seen in this population and they encompass motor, language,
cognitive, executive function, adaptive, behavioral, and autism spectrum disorder parameters.
Summary CHD affects many individuals and the neurodevelopmental impact is not insignificant. Early identification and
management through cardiac neurodevelopmental programs and support through programs such as early intervention are critical
to optimizing the neurodevelopmental outcomes and quality of life of individuals with CHD. Future directions should include
further research into what impacts neurodevelopmental outcomes in children with CHD and how to intervene.
Keywords Congenital heart disease .Neurodevelopment .Outcomes .Intervention
Introduction
Approximately 1–2% of all children are born each year with
congenital heart disease (CHD). Survival into adulthood has dra-
matically improved and now surpasses 80% [1]. With this in-
creased survival, the focus has shifted to identifying long-term
complications associated with CHD, including common
neurodevelopmental challenges, and to improving the quality
of life of affected children. Research now focuses on identifying
specific challenges faced by survivors of CHD and targeting how
best to address them. In the past, neurodevelopmental delays
(NDDs) in children with complex congenital heart disease were
attributed largely to factors such as surgical intervention and
perioperative anesthesia. However, this has been largely
disproven. Research from the Boston Circulatory Trial follows
children with CHD and has collected over 30 years of data.
Interestingly, they found that the surgery itself did not contribute
as significantly as expected to long-term outcomes [2•,3••,4],
but rather, that pre-natal risk factors and post-natal course were
more predictive of long-term neurodevelopmental outcomes [5•,
6] than the corrective surgery and anesthesia. The NDDs children
face with CHD are not unique and are commonly found in other
high-risk populations such as children born preterm. However,
the constellation of delays does appear to be unique to children
with complex congenital heart disease (CHD).
What are the most common patterns of delays in CHD?
Children with CHD have similar neurodevelopmental pro-
files, irrespective of cardiac lesion or surgery. This constella-
tion of neurodevelopmental delays is shown in Fig. 1.Most
commonly, delays are seen in the following parameters: motor
function (both fine and gross), executive functioning, adaptive
This article is part of the Topical Collection on Neonatology
*Jennifer Bragg
Jennifer.bragg@mssm.edu
1
Icahn School of Medicine at Mount Sinai Hospital, 1 Gustave L.
Levy Place, Box 1508, New York, NY 10029, USA
Current Pediatrics Reports (2019) 7:21–26
https://doi.org/10.1007/s40124-019-00189-2
Content courtesy of Springer Nature, terms of use apply. Rights reserved.
... Types of CHDs in 22q11DS mostly consist of conotruncal abnormalities and atrioventricular septal defects, including tetralogy of Fallot, ventricular septal defects, interrupted aortic arch, and truncus arteriosus [5,75,76]. The association between CHDs and EF is thought to be the result of a complex interplay between various endogenous or exogenous factors, such as low oxygen saturation, abnormal cerebral blood flow, and the use of cardiopulmonary bypass during surgery, which in turn affect early brain development [77][78][79][80][81][82]. The various factors differ between different types of CHD as their hemodynamic impact varies, and as the type and magnitude of intervention depends on the nature and severity of the CHD. ...
Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects
Article
Full-text available
  • May 2023
  • J NEURODEV DISORD
Background Executive functioning (EF) is an umbrella term for various cognitive functions that play a role in monitoring and planning to effectuate goal-directed behavior. The 22q11.2 deletion syndrome (22q11DS), the most common microdeletion syndrome, is associated with a multitude of both somatic and cognitive symptoms, including EF impairments in school-age and adolescence. However, results vary across different EF domains and studies with preschool children are scarce. As EF is critically associated with later psychopathology and adaptive functioning, our first aim was to study EF in preschool children with 22q11DS. Our second aim was to explore the effect of a congenital heart defects (CHD) on EF abilities, as CHD are common in 22q11DS and have been implicated in EF impairment in individuals with CHD without a syndromic origin. Methods All children with 22q11DS ( n = 44) and typically developing (TD) children ( n = 81) were 3.0 to 6.5 years old and participated in a larger prospective study. We administered tasks measuring visual selective attention, visual working memory, and a task gauging broad EF abilities. The presence of CHD was determined by a pediatric cardiologist based on medical records. Results Analyses showed that children with 22q11DS were outperformed by TD peers on the selective attention task and the working memory task. As many children were unable to complete the broad EF task, we did not run statistical analyses, but provide a qualitative description of the results. There were no differences in EF abilities between children with 22q11DS with and without CHDs. Conclusion To our knowledge, this is the first study measuring EF in a relatively large sample of young children with 22q11DS. Our results show that EF impairments are already present in early childhood in children with 22q11DS. In line with previous studies with older children with 22q11DS, CHDs do not appear to have an effect on EF performance. These findings might have important implications for early intervention and support the improvement of prognostic accuracy.
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... Approximately 3 -7% of infants are born with congenital anomalies that are life-threatening conditions (Christianson, Howson, & Modell, 2006;Park, 2005). These children are disproportionately affected by neurological, emotional and social dysregulation; (Bragg, 2019;Howell et al., 2019;Walker & Holland, 2019) parents are compromised by mental health and caregiving burden (Skari et al., 2006;Skreden et al., 2010;Solberg et al., 2011Solberg et al., , 2012Woolf-King, Anger, Arnold, Weiss, & Teitel, 2017). A child's serious health condition is a primary risk factor for strained intra-couple relationships and less functional families. ...
Adaptive Leadership in Parents Caring for their Children Born with Life-Threatening Conditions
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  • Jul 2020
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Purpose The purpose of this study was to chronicle the adaptive challenges and adaptive work, including emerging leadership behaviors, recounted over time by the parents of very young children diagnosed before birth with life threatening conditions. Design and methods A descriptive, follow-up study design was used for the current study. Following the original grounded dimensional analysis study completed in 2012, the corpus for this analysis was collected in 2014. In-depth, audio-recorded interviews were conducted with 15 families (8 couples, 7 mothers). The 15 children, born with cardiac, abdominal, and cerebrospinal anomalies, were 14 - 37 months or deceased at follow-up. A directed content analysis of transcribed verbatim interviews was structured by the Adaptive Leadership framework. Results Parents described behaviors that indicated a non-linear development towards adaptive leadership as they accomplished the adaptive work within intra- and interpersonal domains that was necessary to address challenges over time. Not all parents described abilities and/or a willingness to mobilize others to do adaptive work, suggesting that adaptive leadership remained an unrealized potential. Conclusions Understood as a complex adaptive system, parents of medically at-risk children hold potential for development towards adaptive leadership and collaborative partnership within the family and with healthcare providers. Practice implications Due to improved survival rates, parents face ongoing challenges related to their children's unpredictable and often chronic health needs. Study findings illustrate parents' adaptive work and leadership behaviors, which can inform nursing assessments, as well as the type and timing for intervention.
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Psychosocial functioning of parents of children with heart disease—describing the landscape
Article
Full-text available
  • Dec 2018
  • Eur J Pediatr
The aim was to describe the psychological functioning of parents of school-age children with heart disease (HD) in a large-scale, transnational evaluation of parent dyads across the spectrum of cardiac diagnoses and a range of psychosocial domains. Parents of children with HD attending routine out-patient cardiology follow-up visits completed questionnaires assessing their mental health, coping, and family functioning. Parents (1197 mothers and 1053 fathers) of 1214 children (mean age: 12.6 years; S.D. 3.0 years; median time since last surgery: 8.9 years) with congenital or acquired HD from three centers each in the UK and the USA participated (80% response rate). Parents of children with milder HD demonstrated few differences from healthy norms and had significantly lower scores on measures of illness-related stress and post-traumatic stress than parents of children with single ventricle conditions or cardiomyopathy. Parents in these latter two diagnostic sub-groups had significantly higher levels of anxiety and depression than healthy norms but did not differ on other measures of family functioning and coping skills. There were few differences between parents from the UK and the USA. Agreement between mothers and fathers within a dyad was highest for the measure of frequency of illness-related stressors (ICC = 0.67) and lowest for anxiety (ICC = 0.12). Conclusion: Our results suggest two different pathways for the long-term psychological well-being of parents of children with HD: on the one hand, more complex HD is associated with poorer long-term psychosocial outcomes; in contrast, there are also grounds for optimism, particularly for parents of children with less complex conditions, with better psychological outcomes noted for some groups of parents compared to previously reported early psychosocial outcomes. Future work needs to identify factors other than disease severity which might explain poorer (or better) functioning in some parents of children with more complex HD.What is Known: • Parents of children with congenital heart disease report elevated levels of anxiety, depression, and stress after cardiac surgery in infancy. • Maternal mental health problems can have an adverse impact on the psychological adjustment of the child with congenital heart disease. What is New: • Parents of children with milder forms of heart disease do not differ from healthy norms in the longer term and psychological outcomes are better than might be expected from early findings. • More complex diagnoses, particularly functional single ventricle conditions and cardiomyopathy, are associated with poorer long-term psychosocial outcomes for parents.
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Cognitive Rehabilitation of Adaptive Behavior in Children with Neurodevelopmental Disorders: A Meta-Analysis
Article
Full-text available
Objectives: Negative behavioral problems often occur following the onset of neurodevelopmental disorders and have an overall impact on the affected children, specifically in terms of their social developmental level. In children, social development behavior has been shown to spontaneously mature over time with the cognitive therapy intervention effects. This study performed a meta-analysis to provide a statistical synopsis of the available evidence of social development behavioral changes following cognitive therapy in children with neurodevelopmental disorders. Methods: Data was collected from two online search engines, including EBSCOhost and PubMed, from January 1, 2006, to August 31, 2016, using the terms "cognition," "cognitive function," and "disease including neurodevelopmental disorder with DSM-5." Two assessors searched the literature using independent inclusion criteria and evaluated the quality of results using the Jadad score. Six articles were chosen using the Comprehensive Meta-Analysis program (version 2.0). Results: Six articles reporting randomized controlled trial studies were included. The effective scores for improving adaptive behavior following cognitive therapy in children with neurodevelopmental disorder were 0.64. The effective score of adaptive behavior was significant in this study (p < 0.05). The results showed no significant statistical heterogeneity and publication bias. Conclusions: The findings of the meta-analysis suggest that cognitive interventions are effective at improving adaptive behavior associated with neurodevelopmental disorders.
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Educational series in congenital heart disease: Prenatal diagnosis of congenital heart disease
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  • Jul 2018
This review article will guide the reader through the background of prenatal screening for congenital heart disease. The reader will be given insight into the normal screening views, common abnormalities, risk stratification of lesions and also recent advances in prenatal cardiology.
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Superior Performance in Prone in Infants With Congenital Heart Disease Predicts an Earlier Onset of Walking
Article
  • Sep 2018
Infants with congenital heart disease are at risk of impaired neurodevelopment, which frequently manifests as motor delay during their first years of life. This delay is multifactorial in origin and environmental factors, such as a limited experience in prone, may play a role. In this study, we evaluated the motor development of a prospective cohort of 71 infants (37 males) with congenital heart disease at 4 months of age using the Alberta Infant Motor Scales (AIMS). We used regression analyses to determine whether the 4-month AIMS scores predict the ability to walk by 18 months. The influence of demographic and clinical variables was also assessed. Fifty-one infants (71.8%) were able to maintain the prone prop position (AIMS score of ≥3 in prone) at 4 months. Of those, 47 (92.2%) were able to walk by 18 months compared to only 12/20 (60%) of those who did not maintain the position. Higher AIMS scores were predictive of a greater likelihood of walking by 18 months (P < .001), with the scores in prone having a higher predictive ability compared to those in other positions (Exp(B) 15.2 vs 4.0). Shorter hospital stays and female gender were also associated with an earlier onset of walking. In conclusion, our study demonstrates that early ventral performance in infants with congenital heart disease impacts the age of acquisition of walking and could be used to guide referral to rehabilitation.
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Neurodevelopmental outcomes at 2 and 4 years in children with congenital heart disease
Article
  • Sep 2018
Background and Objectives Children with congenital heart disease (CHD) are at risk for neurodevelopmental (ND) delays. The purpose of this study is to compare the ND testing results of children with CHD at 2 and 4 years of age and determine if rates of ND delays change over time. Methods Children with CHD completed the Bayley Scales of Infant Development‐III (BSID‐III) at 2 years of age, and standardized neuropsychological measures at 4 years. Scores were compared with test norms and were classified as: average (within one SD of test mean); at risk (1‐2 SDs from the test mean); and delayed (>2 SD from test mean). Pearson correlations and McNemar's exact tests were performed to determine the relationship between test scores at the two times of assessment. Results Sixty‐four patients completed evaluations at 24 ± 3 months of age and 4 years of age. BSID‐III cognitive and fine motor scores were correlated with preschool IQ and fine motor scores, r = .75 to .87, P < .0001. Agreement in score categories was 79% for cognitive and 61% for fine motor. More patients had at risk or delayed scores at age 4 vs age 2 (P ≤ .01). Conclusion(s) Despite significant correlations between 2‐ and 4‐year‐old test scores, many patients who scored in the average range at age 2 showed deficits at age 4. BSID‐III scores at age 2 may underestimate delays. Therefore, longitudinal ND assessment is recommended.
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The neonatal brain in critical congenital heart disease: Insights and future directions
Article
  • May 2018
Neurodevelopmental outcomes are impaired in survivors of critical congenital heart disease (CHD) in several developmental domains including motor, cognitive and sensory outcomes. These deficits can extend into the adolescent and early adulthood years. The cause of these neurodevelopmental impairments is multi-factorial and includes patient specific risk factors, cardiac anatomy and physiology as well as brain changes seen on MRI. Advances in imaging techniques have identified delayed brain development in the neonate with critical CHD as well as acquired brain injury. These abnormalities are seen even before corrective neonatal cardiac surgery. This review focuses on describing brain changes seen on MRI in neonates with CHD, risk factors for these changes and the association with neurodevelopmental outcome. There is an emerging focus on the impact of cardiovascular physiology on brain health and the complex heart-brain interplay that influences ultimate neurodevelopmental outcome in these patients.
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Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease
Article
  • Apr 2018
  • AM HEART J
Background Up to 20% of children with congenital heart disease (CHD) undergoing cardiac surgery develop neurodevelopmental disabilities (NDD), with some studies reporting persistent impairment. Recent large-scale studies have demonstrated shared genetic mechanisms contributing to CHD and NDD. In this study, a targeted approach was applied to assess direct clinical applicability of this information. Methods A gene panel comprising 148 known CHD and/or NDD genes was used to sequence 15 patients with CHD + NDD, 15 patients with CHD, and 15 healthy controls. The number and types of variants between the 3 groups were compared using Poisson log-linear regression, and the SNP-set (Sequence) Kernel Association Test-Optimized was used to conduct single-gene and gene-pathway burden analyses. Results A significant increase in rare (minor allele frequency < 0.01) and novel variants was identified between the CHD + NDD cohort and controls, P < .001 and P = .001, respectively. There was also a significant increase in rare variants in the CHD cohort compared with controls (P = .04). Rare variant burden analyses implicated pathways associated with “neurotransmitters,” “axon guidance,” and those incorporating “RASopathy” genes in the development of NDD in CHD patients. Conclusions These findings suggest that an increase in novel and rare variants in known CHD and/or NDD genes is associated with the development of NDD in patients with CHD. Furthermore, burden analyses point toward rare variant burden specifically in pathways related to brain development and function as contributors to NDD. Although promising variants and pathways were identified, further research, utilizing whole-genome approaches, is required prior to demonstrating clinical utility in this patient group.
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Perioperative neonatal brain injury is associated with worse school-age neurodevelopment in children with critical congenital heart disease
Article
  • Mar 2018
Aim To assess the impact of perioperative neonatal brain injury and brain volumes on neurodevelopment throughout school‐age children with critical congenital heart disease (CHD). Method Thirty‐four survivors of neonatal cardiac surgery (seven females, 27 males) were included. Neonatal preoperative and postoperative cerebral magnetic resonance imaging was performed and neurodevelopment was assessed at 24 months (SD 0.7, n=32, using Bayley Score of Infant and Toddler Development, Child Behavior Checklist) and 6 years (mean age 5y 11mo; SD 0.3, n=30, using Movement Assessment Battery for Children, Wechsler Preschool and Primary Scale of Intelligence, Child Behavior Checklist, Teacher Report Form). Brain injury, brain volumes, and cortical measures were related to outcome with adjustment for maternal educational level. Results Two‐year cognitive score and 6‐year Full‐scale IQ were poorer in children with neonatal white matter injury (n=21, all p<0.05), with higher teacher‐reported attention problems (p=0.03). Five of six children with involvement of the posterior limb of the internal capsule showed motor problems (p=0.03). Children with a below‐average Fulll‐scale IQ (<85, n=9) showed smaller volumes of basal ganglia thalami (−8%, p=0.03) and brain stem (−7%, p=0.03). Interpretation Our findings provide evidence of unfavourable outcome in school‐age children with critical CHD who acquire perioperative neonatal brain injury. What this paper adds • This paper extends knowledge about neonatal brain injury and long‐term outcome in congenital heart disease. • Children with white matter injury show lower IQ and more attention problems at school age. • Injury of the posterior limb of the internal capsule increases the risk of motor problems. • This study provides evidence for worse outcomes in neonates acquiring brain injury around cardiac surgery.
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Congenital Heart Disease and Neurodevelopment: Clinical Manifestations, Genetics, Mechanisms and Implications
Article
  • Oct 2017
  • CAN J CARDIOL
Children with congenital heart disease (CHD) are at increased risk of neurodevelopmental disorders and psychiatric conditions. These include cognitive, adaptive, motor, speech, behavioural, and executive functioning deficits, as well as autism spectrum disorder and psychiatric conditions. Structural and functional neuroimaging have demonstrated brain abnormalities in young children with CHD prior to undergoing surgical repair, likely as a result of in-utero developmental insult. Surgical factors do not seem to play a significant role in neurodevelopmental outcomes. Specific genetic abnormalities, particularly copy number variants, have been increasingly implicated in both CHD and neurodevelopmental disorders. Variations in genes involved in apolipoprotein E (APOE) production, the Wnt signalling pathway and histone modification, as well as in the 1q21.1, 16p13.1-11, and 8p23.1 genetic loci, have been associated with CHD and neurodevelopmental disorders, and are important targets for future research. Understanding these associations is important for risk stratification, disease classification, improved screening, and pharmacological management of individuals with CHD.
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Preschool Neurodevelopmental Outcomes in Children with Congenital Heart Disease
Article
  • Jan 2017
Objective: To describe preschool neurodevelopmental outcomes of children with complex congenital heart disease (CHD), who were evaluated as part of a longitudinal cardiac neurodevelopmental follow-up program, as recommended by the American Heart Association and the American Academy of Pediatrics, and identify predictors of neurodevelopmental outcomes in these children. Study design: Children with CHD meeting the American Heart Association/American Academy of Pediatrics high-risk criteria for neurodevelopmental delay were evaluated at 4-5 years of age. Testing included standardized neuropsychological measures. Parents completed measures of child functioning. Scores were compared by group (single ventricle [1V]; 2 ventricles [2V]; CHD plus known genetic condition) to test norms and classified as: normal (within 1 SD of mean); at risk (1-2 SD from mean); and impaired (>2 SD from mean). Results: Data on 102 patients were analyzed. Neurodevelopmental scores did not differ based on cardiac anatomy (1V vs 2V); both groups scored lower than norms on fine motor and adaptive behavior skills, but were within 1 SD of norms. Patients with genetic conditions scored significantly worse than 1V and 2V groups and test norms on most measures. Conclusions: Children with CHD and genetic conditions are at greatest neurodevelopmental risk. Deficits in children with CHD without genetic conditions were mild and may not be detected without formal longitudinal testing. Parents and providers need additional education regarding the importance of developmental follow-up for children with CHD.
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