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There is increasing effort in both the inpatient and outpatient setting to improve care, function, and quality of life for children with congenital heart disease, and to decrease complications. As the mortality rates of surgical procedures for congenital heart disease decrease, improvement in perioperative morbidity and quality of life have become key metrics of quality of care. Quality of life and function in patients with congenital heart disease can be affected by multiple factors: the underlying heart condition, cardiac surgery, complications, and medical treatment. Some of the functional areas affected are motor abilities, exercise capacity, feeding, speech, cognition, and psychosocial adjustment. Rehabilitation interventions aim to enhance and restore functional ability and quality of life for those with physical impairments or disabilities. Interventions such as exercise training have been extensively evaluated in adults with acquired heart disease, and rehabilitation interventions for pediatric patients with congenital heart disease have similar potential to improve perioperative morbidity and quality of life. However, literature regarding the pediatric population is limited. We have gathered a multidisciplinary team of experts from major institutions to create evidence- and practice-based guidelines for pediatric cardiac rehabilitation programs in both inpatient and outpatient settings. To improve the quality of life of pediatric patients with congenital heart disease, we propose the use of individualized multidisciplinary rehabilitation programs that include: medical management; neuropsychology; nursing care; rehabilitation equipment; physical, occupational, speech, and feeding therapies; and exercise training.

Abstract Objectives Cerebral palsy (CP) is the most common childhood motor disability, yet its link to single‐gene disorders is under‐characterized. To explore the genetic landscape of CP, we conducted whole exome sequencing (WES) in a cohort of patients with CP. Methods We performed comprehensive phenotyping and WES on a prospective cohort of individuals with cryptogenic CP (who meet criteria for CP; have no risk factors), non‐cryptogenic CP (who meet criteria for CP; have at least one risk factor), and CP masqueraders (who could be diagnosed with CP, but have regression/progressive symptoms). We characterized motor phenotypes, ascertained medical comorbidities, and classified brain MRIs. We analyzed WES data using an institutional pipeline. Results We included 50 probands in this analysis (20 females, 30 males). Twenty‐four had cryptogenic CP, 20 had non‐cryptogenic CP, five had CP masquerader classification, and one had unknown classification. Hypotonic‐ataxic subtype showed a difference in prevalence across the classification groups (p = 0.01). Twenty‐six percent of participants (13/50) had a pathogenic/likely pathogenic variant in 13 unique genes (ECHS1, SATB2, ZMYM2, ADAT3, COL4A1, THOC2, SLC16A2, SPAST, POLR2A, GNAO1, PDHX, ACADM, ATL1), including one patient with two genetic disorders (ACADM, PDHX) and two patients with a SPAST‐related disorder. The CP masquerader category had the highest diagnostic yield (n = 3/5, 60%), followed by the cryptogenic CP category (n = 7/24, 29%). Fifteen percent of patients with non‐cryptogenic CP (n = 3/20) had a Mendelian disorder on WES. Interpretation WES demonstrated a significant prevalence of Mendelian disorders in individuals clinically diagnosed with CP, including in individuals with known CP risk factors.

Survival of pediatric patients with heart failure has improved due to medical and surgical advances over the past decades. The complexity of pediatric heart transplant patients has increased as medical and surgical management for patients with congenital heart disease continues to improve. Quality of life in patients with heart failure and transplant might be affected by the impact on functional status that heart failure, heart failure complications or treatment might have. Functional areas affected might be motor, exercise capacity, feeding, speech and/or cognition. The goal of rehabilitation is to enhance and restore functional ability and quality of life to those with physical impairments or disabilities. Some of these rehabilitation interventions such as exercise training have been extensively evaluated in adults with heart failure. Literature in the pediatric population is limited yet promising. The use of additional rehabilitation interventions geared toward specific complications experienced by patients with heart failure or heart transplant are potentially helpful. The use of individualized multidisciplinary rehabilitation program that includes medical management, rehabilitation equipment and the use of physical, occupational, speech and feeding therapies can help improve the quality of life of patients with heart failure and transplant.

BackgroundPatients with congenital heart disease are at risk of motor, cognitive, speech, and feeding difficulties after cardiac surgery. Rehabilitation therapy could improve functional outcomes in this population if applied in the acute postcardiac surgical in‐hospital stay. However, information on the types of acute postcardiac surgery therapy needs in children is scarce. Our goal was to describe rehabilitation therapy following congenital heart surgery and pre/intraoperative factors associated with need for therapy. Methods and ResultsThis is a retrospective cohort study of patients

Introduction: Parental satisfaction is rarely measured in the neonatal intensive care unit due to a lack of specific assessment tools. The Empowerment of Parents in The Intensive Care-Neonatology (EMPATHIC-N) questionnaire is an instrument to assess satisfaction in relation to family-centred care that has been validated in several countries, but not Spain. Objectives: To perform the translation and cultural adaptation of the EMPATHIC-N to Spanish followed by its validation for the purpose of assessing satisfaction in parents with children admitted to the neonatal intensive care unit. Material and methods: The questionnaire first underwent forward and backward translation and transcultural adaptation by a panel of experts through a standardized process based on the Delphi method, followed by a pilot study in 8 parents and then a cross-sectional study in the neonatal intensive care unit of a tertiary care hospital to assess the reliability and converging validity of the Spanish version. Results: The study proved the comprehensibility, validity, feasibility, applicability and usefulness of the Spanish version of the EMPATHIC-N in the field of paediatric health after being evaluated by 19 professionals and 60 parents. The content validity was found to be excellent (0.93). The reliability and convergent validity of the Spanish version of the EMPHATIC-N was analysed in a sample of 65 completed questionnaires. The Cronbach α for each domain was greater than 0.7, indicating a high internal consistency. We assessed validity by analysing the correlation of the 5 domains with the with the 4 general satisfaction items. The validity was found to be adequate (rs, 0.4−0.76; P

Background: Impaired exercise capacity is common in adults with congenital heart disease (ACHD). This impairment is progressive and is associated with increased morbidity and mortality. We studied the influence of the frequency of at least moderately strenuous physical activity (PhysAct) on changes in exercise capacity of ACHD patients over time., Methods: We studied ACHD patients ≥21 years old who had repeated maximal (RER≥1.09) cardiopulmonary exercise tests within 6 to 24 months. On the basis of data extracted from each patient's clinical records, PhysAct frequency was classified as (1) Low: minimal PhysAct, (2) Occasional: moderate PhysAct <2 times/week, or (3) Frequent: moderate PhysAct ≥2 times/week., Results: PhysAct frequency could be classified for 146 patients. Those who participated in frequent exercise tended to have improved pVO2 (∆pVO2=+1.63±2.67 ml/kg/min) compared to those who had low or occasional activity frequency (∆pVO2=+0.06±2.13 ml/kg/min, p=0.003) over a median follow-up of 13.2 months. This difference was independent of baseline clinical characteristics, time between tests, medication changes, or weight change. Those who engaged in frequent PhysAct were more likely to have an increase of pVO2 of ≥1SD between tests as compared with sedentary patients (multivariable OR=7.4, 95%CI 1.5-35.7). Aerobic exercise capacity also increased for patients who increased activity frequency from baseline to follow-up; 27.3% of those who increased their frequency of moderately strenuous physical activity had a clinically significant (at least +1SD) increase in pVO2 compared to only 11% of those who maintained or decreased activity frequency., Conclusions: ACHD patients who engage in frequent physical activity tend to have improved exercise capacity over time., (© 2013.)