Laura Valfrè

Long term follow-up in high-risk congenital diaphragmatic hernia survivors: patching the diaphragm affects the outcome

BACKGROUND/PURPOSE The increased survival rate reached in infants with congenital diaphragmatic hernia (CDH) has shown a concomitant increase in late morbidity. A recent report from CDH Study Group showed that dimension of diaphragmatic defect is the only independent risk factor of mortality. However, the influence of defect size on late morbidity is still controversial. The aim of the study was to evaluate the influence of patch repair (proxy of diaphragmatic defects size) on midterm morbidity. METHODS All high-risk (prenatal diagnosis and/or respiratory symptoms within 6 hours of life) CDH survivors treated at our institution from 2004 to 2008 were followed up in a multidisciplinary outpatient clinic as part of a longitudinal prospective study. Auxological, gastroesophageal, pulmonary, and orthopedic evaluations were performed at 6, 12, and 24 months of age. Patient outcomes were compared with respect to +/- patch repair. RESULTS Of 70 survivors, 61 (87%) were enrolled and prospectively evaluated in follow-up. Poorer auxological outcome, increased rate of gastroesophageal reflux, and altered pulmonary function test were observed during follow-up. CONCLUSIONS Patch repair correlates with higher pulmonary, auxological, and gastroesophageal morbidity without increasing chest wall deformities at long-term follow-up.

Congenital diaphragmatic hernia: defect size correlates with developmental defect.

PURPOSE The aim of our study was to elucidate if the defect size reflects the magnitude of the developmental defect in patients with CDH. METHODS All patients recorded in the CDH Study Group registry between January 1, 2007, and December 31, 2010, and with defect classification were included in the study. They were divided according to defect size (A-D) and compared for: gestational age (GA), birth weight (BW), number of abnormal organ systems, prevalence of associated anomalies, cardiovascular malformations (CVM), chromosomal anomalies, liver in the chest, and hernia sac. RESULTS A total of 1350 of 1778 patients had defect classification: 173 A, 557 B, 438 C, and 182 D. Mortality rate was 0.6%, 5.3%, 22.6%, and 45.6% in group A, B, C, and D, respectively, (p<0.0001; p for trend <0.0001). GA, BW, prevalence of associated anomalies, particularly CVM, number of abnormal organ systems, and prevalence of sac were significantly different between the groups, with a significant reduction of GA, BW, and prevalence of sac. There was an increase in prevalence of associated anomalies, liver in the chest, and number of abnormal systems as the defect size increased. CONCLUSION Defect size is directly correlated with mortality rate, prevalence of other anomalies (particularly CVM), and number of abnormal systems, and inversely with GA, BW, and prevalence of hernia sac. The defect size may be a marker for the magnitude of developmental abnormality, thereby explaining its relationship with the outcome.

The outcome of expectant management of congenital cystic adenomatoid malformation of the lung.

INTRODUCTION: The appropriate management of asymptomatic congenital cystic adenomatoid malformations of the lung (CCAM) remains controversial. The aim of this study is to determine the outcome of expectant management of these lesions and the sensitivity of antenatal ultrasound diagnosis. MATERIAL AND METHODS: A retrospective review was undertaken of all cases identified from prospectively collected databases with an antenatal or postnatal diagnosis of CCAM in the Northern region of England between 1985 and 2006 where such lesions underwent resection only when symptomatic. RESULTS: Thirty-seven cases of confirmed CCAM were identified antenatally or postnatally. Twenty-six (70%) were identified by antenatal ultrasound scans (during a period of near-universal antenatal scanning), of whom 21 (81%) were liveborn. In total, 16 of 29 (55%) liveborn infants with CCAM were symptomatic, and either died within the first postnatal week or underwent resection. Thirteen (45% of livebirths) were managed expectantly and remained asymptomatic. The sensitivity of antenatal ultrasound screening for CCAM increased over the period to 90% in the latter half of the study (p=0.035), although the positive predictive value (66%) did not improve. CONCLUSIONS: Expectant management was a reasonable option for almost half of the babies, but over one third required surgery for CCAM, most becoming symptomatic in infancy. In view of the uncertainty that surrounds decisions regarding expectant or pre-emptive resection in asymptomatic infants, the authors advocate having an open and honest discussion when counselling parents (particularly antenatally) regarding surveillance or expectant management as a reasonable strategy.

Long-gap esophageal atresia: traction-growth and anastomosis – before and beyond

Long-gap esophageal atresia (LGEA) is still a major surgical challenge. Options for esophageal reconstruction include the use of native esophagus or esophageal replacement with stomach, colon, or small intestine. Nonetheless, there is a consensus among most pediatric surgeons that the preservation of the native esophagus is associated with better postoperative outcomes. Thus, every effort should be made to conserve the native esophagus. The present study is aimed at critically reporting our experience focused on a standardized protocol based on the preoperative assessment of the gap in all cases and reviewing the present literature because no consensus is available regarding many aspects of LGEA (from definition to treatment). All newborn infants treated since 1995 for esophageal atresia (EA), regardless of type, were included in the present study. Identification of LGEA patients (gap ≥3 vertebral bodies) was performed based on preoperative esophageal gap measurement. The selected patients were grouped based on EA type (A/B vs. C/D) and whether they were referred from an outside institution or not. Postoperative outcome was compared. Statistical analysis was performed with the Fishers exact test and Mann-Whitney test as appropriate, with P < 0.05 considered statistically significant. Two hundred and nineteen patients have been consecutively treated between 1995 and 2012 with the following EA subtypes: type: A 25 (11.4%); B 6 (2.7%); C 182 (83.1%); D 3 (1.4%); E 3 (1.4%). Fifty-seven patients (26%) were classified as LGEA: type A-B, 31 (54.4%); type C-D, 26 (45.6%). Twenty seven (47%) of these patients were referred after at least one failed attempt at esophageal correction: type A-B, 15 (55%); type C-D, 12 (45%). Only one patient ultimately required esophageal substitution, with an overall survival rate of 94%. A standardized perioperative protocol enhances the possibility of preserving the native esophagus in cases of LGEA. Gap measurement can be accurately defined before surgery in all patients with EA. Esophageal anastomosis (either immediate or delayed repair) is almost always feasible; esophageal substitution should only be considered after a rigorous attempt at achieving end-to-end esophageal anastomosis.

Short-term neurodevelopmental outcome of babies operated on for low-risk esophageal atresia: a pilot study

Data on the neurodevelopmental outcome of esophageal atresia (EA) survivors are scarce, controversial, and based on small samples. This is an observational prospective longitudinal study on a selected cohort of low-risk EA survivors. We considered a low-risk EA survivor a patient with the following characteristics: gestational age >32 weeks, no long gap, no genetic or chromosomic anomaly associated with neurodevelopmental delay, and no further major surgical congenital anomalies. Infants were evaluated with scales derived from the Bayley Scales of Infant and Toddler Development - 3rd Edition at 6 and 12 months, with a score of 100 considered normal for each scale. Analysis of variance was used to assess differences of cognitive and motor development. Linear regression was used to assess the impact of the following clinical and sociodemographic variables: gender, birthweight, gestational age, length of hospital stay, number of surgeries and number of esophageal dilatations during first hospitalization, days of mechanical ventilation, weight at follow up, number of surgeries and esophageal dilatations at follow up, parental age, educational level, and socioeconomic status. Thirty children form the object of the study. The mean (standard deviation [SD]) cognitive scales score was 93.7 (7.5) and 98.2 (9.6) at 6 and 12 months, respectively (P < 0.05). The mean (SD) motor scales score was 97.6 (9.3) and 98.0 (12.1) at 6 and 12 months, respectively (P = n.s.). Children with a body weight <5° percentile at 12 months showed a mean (SD) cognitive score significantly lower when compared with those with a body weight >5° percentile: 88.8 (6.3) and 100.5 (8.9), respectively. At 12 months, children with unemployed mothers had a mean (SD) motor score significantly lower when compared with those in the other socioeconomic classes: 87.7 (9.8) and 100.6 (12.4), respectively. In conclusion, parents of babies operated on for low-risk EA can be reassured about neurodevelopmental outcome at least up to 1 year of age. When offering a multidisciplinary follow-up program, underweight patients should deserve particular attention to promote their quality of life and support their global development.

Neurodevelopmental Outcome in High-Risk Congenital Diaphragmatic Hernia Patients: An Appeal for International Standardization

Background: Since mortality in congenital diaphragmatic hernia (CDH) is decreasing, morbidity such as neurodevelopmental outcome is becoming increasingly important. Objectives: We evaluated neurodevelopmental outcome in high-risk CDH patients treated according to the CDH EURO Consortium standardized treatment protocol. Methods: This observational, prospective cohort study was conducted in two European centers. Neurodevelopment of 88 patients (Rotterdam n = 49; Rome n = 39) was assessed at 12 and 24 months with the Bayley Scales of Infant Development (BSID)-II-NL (Rotterdam) or BSID-III (Rome). Data of the centers were analyzed separately. Results: Cognition was normal in 77.8% of children from Rotterdam and in 94.8% from Rome at 12 months, and in 70.7 and 97.4%, respectively, at 24 months. Motor function was normal in 64.3% from Rotterdam and in 81.6% from Rome at 12 months and in 45.7 and 89.8%, respectively, at 24 months. Longer length of hospital stay (LoS) was associated with worse cognitive outcome and motor function; LoS, low socioeconomic status, and ethnicity were associated with lower cognition. Conclusions: At 2 years, most CDH patients have normal cognition, but are at risk for motor function delay. Due to differences in outcomes between centers, careful interpretation is needed before conclusions can be drawn for other centers. Future multicenter collaboration should not only focus on standardization of postnatal care, but also on international standardization of follow-up to identify risk factors and thereby reduce morbidity.

Factors affecting short-term neurodevelopmental outcome in children operated on for major congenital anomalies

PURPOSE Identify clinical and socio-demographic risk-factors affecting short-term neurodevelopmental outcome (NDO) in children operated on for abdominal and thoracic congenital anomalies (CA). METHODS Prospective cohort observational study on newborns operated on for non-cardiac major CA. Evaluations were conducted at 6 and 12 months of age. Univariate linear regression and multivariate regression were conducted to analyze the impact on NDO of clinical and sociodemographic variables. Infants were evaluated with the Bayley Scales of Infant and Toddler Development-3rd Edition. RESULTS One-hundred-fifty-five children were enrolled. They were affected by the following anomalies: Esophageal Atresia (N=41), Congenital Diaphragmatic Hernia (N=42), Midgut Malformations (N=34), Abdominal Wall Defects (N=18), Colorectal Malformations (N=20). There were no statistically significant differences among the five groups of CA as to NDO. Variables which reached statistical significance at multivariate regression (p≤0.001) at 6 and 12 months as to cognitive and motor development were: ventilatory time, associated malformations, medical appliances for feeding, number of surgery and length of hospital stay. CONCLUSIONS On the average, children born with CA show a NDO within normal range. The identified risk-factors could prompt health care professionals to conduct a close surveillance on most vulnerable children giving them the best chance to reach their full potential.

Neurodevelopmental outcome in congenital diaphragmatic hernia survivors: role of ventilatory time.

BACKGROUND Neurodevelopmental impairment is one of the most significant morbidities among CDH survivors. PURPOSE Assess correlation between ventilatory time (VT) and short-term neurodevelopmental outcome in congenital diaphragmatic hernia (CDH) survivors. METHODS A prospective longitudinal study was conducted between 2008 and 2012. Assessment of mental and motor development was performed at 6 and 12months by Bayley Scales of Infant and Toddler Development - 3rd Edition (BSID-III). ROC curve analysis was used. RESULTS Forty-two subjects were included in the study. There was a significant inverse correlation between neurodevelopment at 6 and 12months and VT during first admission (p<0.0001). VT predicting the risk of moderate (BSID-III <85) and severe (BSID-III <70) delay was 13 and 28days, respectively (area under the curve - delay <85: 6months mental 0.943 and motor 0.992; 12months mental 0.877 and motor 0.925; delay <70: 6months mental 0.934 and motor 0.943; 12months mental 0.906 and motor 0.975; p<0.0001). CONCLUSIONS VT should be considered an important marker to identify subjects at risk for short-term neurodevelopmental delay in CDH survivors. Early follow-up intervention therapy should be activated in every baby with a history exceeding 13days of VT.

Feeding and Swallowing Disorders in Esophageal Atresia Patients: A Review of a Critical Issue.

Feeding and swallowing disorders are commonly seen in clinical practice in infants and children treated for esophageal atresia with or without tracheoesophageal fistula. Nevertheless, only few authors have addressed these issues. This review aims to describe the feeding and swallowing disorders encountered, focusing on pathophysiology, normal development of swallowing and feeding abilities, and possible rehabilitation therapies to prevent or correct these disorders.

Surgical gastrointestinal anomalies including diaphragmatic hernia: Does type of anomaly affect neurodevelopmental outcome?

OBJECTIVE To describe short-term neurodevelopmental outcome of infants operated on for congenital anomalies (CA) and assess the impact of type of CA on the outcome. STUDY DESIGN From 2008 to 2010 newborns operated on for CA were enrolled in a cross-sectional follow-up study including three distinct groups: infants of 6 months (group A), infants of 12 months (group B), and children of 24 months (group C). Each group was divided into five subgroups: (1) esophageal atresia; (2) congenital diaphragmatic hernia; (3) midgut malformations; (4) abdominal wall defects; (5) colorectal malformations. Each group of patients underwent a neurodevelopmental evaluation with Bayley III. RESULTS In all, 150, 156, and 84 babies were enrolled in groups A, B, and C, respectively. Mean (standard deviation) Mental Scale score was 94.65 (8.75), 98.76 (11.03), and 100.60 (12.04) in groups A, B, and C. Mean (standard deviation) Motor Scale score was 96.89 (11.62), 99.23 (14.83), and 103.60 (12.90) in groups A, B, and C. No significant differences were found among the five subgroups considered. CONCLUSION Regardless of type of malformation, short-term neurodevelopmental outcome of children with gastrointestinal anomalies including diaphragmatic hernia falls within normal range, suggesting that neither being born with a CA nor its type is per se a risk factor for neurodevelopmental delay.