Parental Stress and Family Quality of Life in Families of Individuals Living With Angelman Syndrome.

Background: Angelman syndrome (AS) is a developmental disorder caused by one of four molecular aetiologies. Affected individuals have intellectual disability (ID), limited speech, seizures and sleep problems. Parents of individuals with AS exhibit elevated stress compared to parents of individuals with other IDs.

Using the Bayley-4 and Vineland-3 in Angelman syndrome: barriers, solutions, and challenging items.

Objective: The Bayley Scales of Infant and Toddler Development- 4th Edition (Bayley-4) and Vineland Adaptive Behavior Scales - 3rd Edition (Vineland-3) are outcome measures often considered as primary endpoints in clinical trials for Angelman syndrome (AS). We explored barriers encountered when administering these instruments to individuals with AS and associated guidance for their use in trials and research studies.

Methods: We interviewed nine clinicians who have administered the Bayley-4 and/or the Vineland-3 to individuals with AS and analyzed their transcripts using a quasi-deductive analysis approach.

Parental stress and family quality of life in families of individuals living with Angelman syndrome.

Background: Angelman syndrome (AS) is a developmental disorder caused by one of four molecular etiologies. Affected individuals have intellectual disability (ID), limited speech, seizures, and sleep problems. Parents of individuals with AS exhibit elevated stress compared to parents of individuals with other IDs.

Developing Meaningful Score Differences for the Bayley-4 and Vineland-3 in Angelman Syndrome using a Delphi Panel.

Objectives: To develop within-patient meaningful score differences (MSDs) on the Bayley Scales of Infant Development, Fourth Edition (Bayley-4), and the Vineland Adaptive Behavior Scales, Third Edition (Vineland-3), for individuals with Angelman syndrome (AS).

Methods: A Delphi method, involving a panel of 19 caregivers of individuals with AS, was used to establish MSDs for Bayley-4 and Vineland-3 Growth Scale Values. MSD was defined as the smallest change that would noticeably impact the daily functioning of an individual with AS or family quality of life in a way that was important to the individual with AS or their family.

Foetal cortical expansion is associated with neurodevelopmental outcome at 2-years in congenital heart disease: a longitudinal follow-up study.

Background: In adolescents and adults with complex congenital heart disease (CHD), abnormal cortical folding is a putative predictor of poor neurodevelopmental outcome. However, it is unknown when this relationship first emerges. We test the hypothesis that it begins in utero, when the brain starts to gyrify and folding patterns first become established.

Retrospective analysis of early neurodevelopmental outcomes after esophageal atresia repair at a single institution: vs. defect.

Background: With increased survival of infants born with esophageal atresia (EA), there is a knowledge gap regarding neurodevelopmental outcomes. We aimed to quantify the frequency of (1) documented developmental delay, and (2) implementation of early intervention services in the first and the second year of life following repair of and EA.

Method: We retrospectively analyzed term-born ( = 44) and premature infants ( = 26) following EA repair at a single institution (2009-2020).

Developmental milestones and daily living skills in individuals with Angelman syndrome.

Background: Angelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ages at which different developmental skills are achieved in these individuals remain unclear. We seek to determine the probability and the age of acquisition of specific developmental milestones and daily living skills in individuals with AS across the different molecular subtypes, viz.

Inpatient Screening for Early Identification of Developmental Risk in Infants with Congenital Heart Defects.

Objective: To assess the utility of an inpatient standardized developmental screener for early identification of developmental risk in infants with a congenital heart defect (CHD).

Study Design: This was a retrospective, observational study with convenience sample of postoperative infants with CHD (aged 3-12 months) who underwent neurodevelopmental screening with the Bayley Scales of Infant and Toddler Development Screening Test, Third Edition (Bayley-III Screener) just before discharge. Follow-up testing included outpatient Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) (12-42 mo).

Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition.

In the current study, we examined adaptive skills and trajectories over time in 257 individuals with Angelman syndrome (AS) using the Vineland Adaptive Behavior Scales, 2nd Edition. Multilevel linear models were used to examine differences between molecular subtypes over time, from one year to 13 years of age, in the adaptive domains of communication, daily living skills, socialization and motor skills. Individuals with non-deletion subtypes typically demonstrated a higher level of adaptive skills compared to those with deletion subtypes.

Impact of Residual Lesion Severity on Neurodevelopmental Outcomes Following Congenital Heart Surgery in Infancy and Childhood.

Children with congenital heart disease are at increased risk of neurodevelopmental delay throughout their lifespan. This risk is exacerbated following congenital heart surgery (CHS) in infancy. However, there are few modifiable risk factors for postoperative neurodevelopmental delay.

Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS).

Background: Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by the absence of a functional UBE3A gene, which causes developmental, behavioral, and medical challenges. While currently untreatable, comprehensive data could help identify appropriate endpoints assessing meaningful improvements in clinical trials. Herein are reported the results from the FREESIAS study assessing the feasibility and utility of in-clinic and at-home measures of key AS symptoms.

Development of the data registry for the Cardiac Neurodevelopmental Outcome Collaborative.

Children with congenital heart disease (CHD) can face neurodevelopmental, psychological, and behavioural difficulties beginning in infancy and continuing through adulthood. Despite overall improvements in medical care and a growing focus on neurodevelopmental screening and evaluation in recent years, neurodevelopmental disabilities, delays, and deficits remain a concern. The Cardiac Neurodevelopmental Outcome Collaborative was founded in 2016 with the goal of improving neurodevelopmental outcomes for individuals with CHD and pediatric heart disease.

Preterm congenital heart disease and neurodevelopment: the importance of looking beyond the initial hospitalization.

Congenital heart disease (CHD) and prematurity are leading causes of infant mortality in the United States. Infants with CHD born prematurely are often described as facing "double jeopardy" with vulnerability from their underlying heart disease and from organ immaturity. They endure additional complications of developing in the extrauterine environment while healing from interventions for heart disease.

Impact of tight glycemic control and hypoglycemia after pediatric cardiac surgery on neurodevelopmental outcomes at three years of age: Findings from a randomized clinical trial.

Background: Studies examining the impact of randomization As per standard instruction, city is required for affiliations; however, this information is missing in affiliation 6. Please check if the provided city is correct and amend if necessary. to tight glycemic control (TGC) and resultant hypoglycemia on later neurodevelopmental outcomes have produced mixed results.

Methylation analysis and developmental profile of two individuals with Angelman syndrome due to mosaic imprinting defects.

Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by loss of expression of the maternally-inherited UBE3A on chromosome 15q11.2. In AS due to a chromosomal deletion that encompasses UBE3A, paternal uniparental disomy of chromosome 15, or imprinting defects (ImpD), the SNRPN locus is unmethylated, while in neurotypical individuals, it is ∼50% methylated.

Telehealth services for cardiac neurodevelopmental care during the COVID-19 pandemic: a site survey from the Cardiac Neurodevelopmental Outcome Collaborative.

Objective: COVID-19 has markedly impacted the provision of neurodevelopmental care. In response, the Cardiac Neurodevelopmental Outcome Collaborative established a Task Force to assess the telehealth practices of cardiac neurodevelopmental programmes during COVID-19, including adaptation of services, test protocols and interventions, and perceived obstacles, disparities, successes, and training needs.

Study Design: A 47-item online survey was sent to 42 Cardiac Neurodevelopmental Outcome Collaborative member sites across North America within a 3-week timeframe (22 July to 11 August 2020) to collect cross-sectional data on practices.

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.

Background: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroencephalographic background. AS is caused by absent expression of the paternally imprinted gene UBE3A in the central nervous system. Disparities in the management of AS are a major problem in preparing for precision therapies and occur even in patients with access to experts and recognized clinics.

Integrating Telehealth Into Neurodevelopmental Assessment: A Model From the Cardiac Neurodevelopmental Outcome Collaborative.

Objective: In the wake of the COVID-19 pandemic, psychologists were pushed to look beyond traditional in-person models of neurodevelopmental assessment to maintain continuity of care. A wealth of data demonstrates that telehealth is efficacious for pediatric behavioral intervention; however, best practices for incorporating telehealth into neurodevelopmental assessment are yet to be developed. In this topical review, we propose a conceptual model to demonstrate how telehealth can be incorporated into various components of neurodevelopmental assessment.

Fetal Brain Volume Predicts Neurodevelopment in Congenital Heart Disease.

Background: Neurodevelopmental impairment is common in children with congenital heart disease (CHD), but postnatal variables explain only 30% of the variance in outcomes. To explore whether the antecedents for neurodevelopmental disabilities might begin in utero, we analyzed whether fetal brain volume predicted subsequent neurodevelopmental outcome in children with CHD.

Methods: Fetuses with isolated CHD and sociodemographically comparable healthy control fetuses underwent fetal brain magnetic resonance imaging and 2-year neurodevelopmental evaluation with the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) and the Adaptive Behavior Assessment System, Third Edition (ABAS-3).

Anxiety in Angelman Syndrome.

Angelman Syndrome (AS) is a neurodevelopmental disorder most commonly caused by the impaired expression of the maternal UBE3A gene on chromosome 15. Though anxiety has been identified as a frequently present characteristic in AS, there are limited studies examining anxiety in this population. Studies of anxiety in other neurodevelopmental disorders have found disorder specific symptoms of anxiety and age specific displays of anxiety symptoms.

Neurological features in infants with congenital heart disease.

Aim: To report neurological examination findings at 5 to 12 months of age in infants with congenital heart disease (CHD) and to identify predictors of abnormal neurological examination.

Method: This retrospective observational study included infants who required cardiac surgery at less than 3 months of age and underwent a standard neurological examination from a neurologist in the cardiac neurodevelopmental outpatient clinic between age 5 months and 12 months. Predictors for abnormal neurological examination (concerns on structured developmental history, demographic factors, medical history, and newborn neurodevelopmental assessment) were considered for multivariate regression.

Characterisation of neurodevelopmental and psychological outcomes in CHD: a research agenda and recommendations from the cardiac neurodevelopmental outcome collaborative.

The Neurodevelopmental and Psychological Outcomes Working Group of the Cardiac Neurodevelopmental Outcome Collaborative was formed in 2018 through support from an R13 grant from the National Heart, Lung, and Blood Institute with the goals of identifying knowledge gaps regarding the neurodevelopmental and psychological outcomes of individuals with CHD and investigations needed to advance science, policy, clinical care, and patient/family outcomes. Accurate characterisation of neurodevelopmental and psychological outcomes in children with CHD will drive improvements in patient and family outcomes through targeted intervention. Decades of research have produced a generalised perspective about neurodevelopmental and psychological outcomes in this heterogeneous population.

Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III.

We describe the development of 236 children with Angelman syndrome (AS) using the Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel linear mixed modeling approaches were used to explore differences between molecular subtypes and over time. Individuals with AS continue to make slow gains in development through at least age 12 years of age at about 1-2 months/year based on age equivalent score and 1-16 growth score points/year depending on molecular subtype and domain.