Difficult therapeutic decision making in treatment of children with oesophageal atresia and trisomy of chromosome 18 - comments by geneticist, surgeon, neonatologist, paediatrician and anaesthesiologist

Oesophageal atresia is a congenital defect of alimentary tract concerning the interruption of oesophagus with or without connection with the trachea. Its incidence is 1:3000-3500 of live-born. Associated anomalies including genetic disorders occur in 50% of patients. Edwards syndrome which is trisomy of chromosome 18 with poor prognosis. The incidence of Edwards syndrome is 1:5000 of live-born. About 5% of these children live more than 1 year. The aim of this article is a retrospective analysis of the course of treatment of newborn with oesophageal atresia and Edwards syndrome and making of therapeutic decision. The authors from different medical specializations: clinical genetics, paediatric surgery, paediatrics and neonatology, paediatric intensive care and palliative medicine, have undertaken a discussion regarding surgical treatment of children with oesophageal atresia and chromosomal, lethal syndrome.     

Duodenal atresia

The aim of this study was the assessment of mortality, morbidity, and associated anomalies in a series of 44 patients with congenital intrinsic duodenal obstruction admitted to the Amsterdam Pediatric Surgical Center between 1975 and 1989. Twenty-two patients were girls and 22 were boys. Severe associated anomalies were considered a contraindication for surgery in 8 children. Of the 36 who were operated upon, 8 died within the first year and a half of life. Associated anomalies consisted of trisomy 21 in 11 patients, cardiac defects in 14 (8 with trisomy 21), skeletal defects in 4, esophageal atresia in 3 (in 2 combined with imperforate anus), and various other anomalies in 5. Among the 6 patients with trisomy 21 who were operated upon, 3 died within 18 months after surgery. The surviving 3 in this group are all below the normal average weight for age. All patients without associated anomalies did well postoperatively. One patient developed a bowel obstruction at age 2 years. It appears from this study that the eventual outcome in children with duodenal atresia is determined almost exclusively by the presence or absence of associated anomalies. Correspondence to: A. Vos     

Clinical practice

Down syndrome (DS) is one of the most common chromosomal abnormalities. Because of medical advances and improvements in overall medical care, the median survival of individuals with DS has increased considerably. This longer life expectancy requires giving the necessary care to the individual with DS over their total longer lifespan. DS medical guidelines are designed for the optimal care of the child in whom a diagnosis of DS has been confirmed. We present an overview of the most important issues related to children with DS based on the most relevant literature currently available.     

Surgical and anesthetic management for hepatectomy in two pediatric patients with trisomy 18, pulmonary hypertension,and hepatoblastoma

Children with trisomy 18 are surviving longer and undergoing more aggressive life‐sustaining therapy. This report describes two patients with trisomy 18 and hepatoblastoma (HB) successfully resected in the setting of significant pulmonary hypertension. Forty‐four previously published cases of the association between HB and trisomy 18 are reviewed. With careful multidisciplinary preoperative planning, successful resection of HB in children with trisomy 18 who have significant pulmonary hypertension is feasible. Because HB and trisomy 18 are increasing in prevalence, the need for timely liver tumor resection in the setting of pulmonary hypertension will be more common.     

Extrahepatic biliary atresia associated with trisomy 18

A case of extrahepatic biliary atresia (EBA) associated with trisomy 18 is presented. A 1-month-old boy was suspected to have Alagille syndrome with obstructive jaundice, a systolic heart murmur, growth retardation, and a small, pointed chin. However, surgery and chromosomal analysis revealed EBA associated with trisomy 18. Chromosomal examination must be performed in patients with jaundice and congenital anomalies. It is possible that EBA in trisomy 18 syndrome is due to a chromosomal disorder. Accepted: 20 April 1998     

Congenital polyvalvular disease in trisomy 18: Echocardiographic diagnosis

Summary Congenital heart disease is known to occur in greater than 90% of patients with trisomy 18, with ventricular septal defect and patent ductus arteriosus being the most frequently encountered lesions. The presence of congenital polyvalvular disease in trisomy 18 as assessed by pathological specimens has also been noted. Echocardiograms were obtained in 15 patients with trisomy 18 and in 12 infants with dysmorphic features, who did not have chromosomal abnormalities, in order to obtain an echocardiographic assessment of the frequency of polyvalvular disease in living patients with trisomy 18. In this series all patients with trisomy 18 had structural defects (seven ventricular septal defects, three patent ductus arteriosus, five both). All trisomy 18 patients also had congenital polyvalvular disease with six patients having four affected valves, five patients having three affected valves, and four patients with two affected valves. In patients with normal chromosomes two had a single abnormal valve, and structural lesions included patent ductus arteriosus (3), ventricular septal defect (2), pulmonary atresia with ventricular septal defect (1), transposition of the great arteries (1), and atrioventricular canal with patent ductus arteriosus and coarctation (1). In infants with features suggestive of trisomy 18, structural cardiac lesions are a nonspecific finding. However, the presence of polyvalvular disease may be a more specific and useful adjunct to other clinical investigations pending chromosomal analysis for definitive diagnosis.     

Ocular findings in a case of trisomy 18 with variant of Dandy-Walker syndrome

Trisomy 18 is the second most common chromosomal syndrome and has multiple dysmorphic features. However, ocular findings in trisomy 18 are rarely reported. Retinal folds are the most common ocular finding described to date, although retinal hypopigmentation, dysplasia, and areas of hemorrhage and gliosis are also found in trisomy 18. Dandy-Walker syndrome is a brain malformation that has been reported in association with numerous chromosomal abnormalities, although it has rarely been reported in association with trisomy 18. Here, we present a case of trisomy 18 with ocular pathology and variant of Dandy-Walker syndrome, a combination that has not previously been reported.     

"The joy to bless and to relieve mankind": child healthcare at Northampton General Infirmary 1744

For more than a century before the opening of Great Ormond Street Hospital for Children (1852), children in England were treated and even admitted in voluntary hospitals in spite of rules prohibiting such care. The earliest English eighteenth century records, that contain the patient's age, are held in Northampton. Reviewing records from the Northampton General Infirmary (from 1903 the Northampton General Hospital) for the period 1744-45 gives a flavour of hospital child health care in an era before the formal recognition of paediatrics as a medical specialty and the construction of specialist provision. Indeed the first patient admitted to the Northampton General Infirmary on 29 March 1744 was Thomasin Grace, a 13 year old child. In Northampton, in its first year of operation, children as young as 2 years of age were seen in outpatients and from 8 years were admitted. Paediatric cases up to and including those 16 years of age made up 26% of the number of patients seen for that year. Within the first year of opening for children of 10 years of age and under, there were eight inpatient admissions and 18 children were treated in outpatients.     

"The joy to bless and to relieve mankind": child healthcare at Northampton General Infirmary 1744.

For more than a century before the opening of Great Ormond Street Hospital for Children (1852), children in England were treated and even admitted in voluntary hospitals in spite of rules prohibiting such care. The earliest English eighteenth century records, that contain the patient's age, are held in Northampton. Reviewing records from the Northampton General Infirmary (from 1903 the Northampton General Hospital) for the period 1744-45 gives a flavour of hospital child health care in an era before the formal recognition of paediatrics as a medical specialty and the construction of specialist provision. Indeed the first patient admitted to the Northampton General Infirmary on 29 March 1744 was Thomasin Grace, a 13 year old child.In Northampton, in its first year of operation, children as young as 2 years of age were seen in outpatients and from 8 years were admitted. Paediatric cases up to and including those 16 years of age made up 26% of the number of patients seen for that year. Within the first year of opening for children of 10 years of age and under, there were eight inpatient admissions and 18 children were treated in outpatients.     

Trisomy 18 mosaicism: report of two cases

Background

Mosaic trisomy 18 has a wide phenotypic spectrum ranging from near normal to early death. We report two cases that add to our knowledge of the disease.

Methods

Patient 1 was a girl with a tracheoesophageal fistula, horse-shoe kidneys and a ventricular septal defect. Karyotyping of her lymphocytes showed complete trisomy 18. Due to her milder phenotypes, skin fibroblasts were karyotyped. Patient 2 was a boy with biventricular hypertrophic cardiomyopathy, patent ductus arteriosus, ventricular and atrial septal defects and significant feeding problems.

Results

Karyotyping of the skin and lymphocytes in patients 1 and 2 respectively revealed trisomy 18 mosaicism. Both children had only mild learning problems and were generally healthy with satisfactory growth. Patient 1 illustrates the possibility of significant discrepancy between the levels of trisomic cells in skin fibroblasts and lymphocytes leading to misdiagnosis. This finding has significant implications in medical management and counselling. Hypertrophic cardiomyopathy in patient 2 is recognized as a novel finding for this condition.

Conclusion

There is the possibility of good outcome for patients with mosaic trisomy 18, even in the presence of multiple congenital anomalies.     

Changes in continuity of enrollment among high-risk children following implementation of TennCare.

BACKGROUND: TennCare, Tennessee's Medicaid managed care program, was introduced in 1994 with the goals of controlling spending and of improving access to health care. OBJECTIVE: To assess changes in the continuity of enrollment following the implementation of TennCare for 2 groups: infants in the first year of life (defined as persons aged 0-12 months in this study) and children hospitalized with a chronic health condition (defined as persons aged 0-18 years in this study). DESIGN: Retrospective cohort analysis. SETTING AND POPULATION: Infants born during 1992 or 1995 to women enrolled in Medicaid or TennCare and 0- to 18-year-old children enrolled in Medicaid or TennCare who were discharged from a hospital during 1992 or 1995 with a chronic health condition. MAIN OUTCOME MEASURES: For infants, failure to enroll an infant in the first 30 days of life or subsequent gaps in enrollment for 7 days or longer during the first year of life. For children hospitalized with a chronic health condition, any gap in enrollment lasting 7 days or longer by 1 year after discharge from a hospital. RESULTS: There was a reduction in the proportion of infants without continuous enrollment in the first year of life following TennCare (19.4% after vs 25.1% before TennCare; odds ratio, 0.69; 95% confidence interval, 0.67-0.72). Improvements in continuity of enrollment for infants occurred despite an increase in the proportion of infants who were not enrolled in TennCare in the first 30 days of life, even though their mother was enrolled at delivery (14.0% after vs 8.0% before TennCare; odds ratio, 1.86; 95% confidence interval, 1.78-1.96). There was a decrease in the proportion of children hospitalized with a chronic health condition who had subsequent gaps in enrollment by 1 year following discharge from a hospital (14.3% after vs 23.3% before TennCare; odds ratio, 0.52; 95% confidence interval, 0.46-0.59). CONCLUSION: For infants in the first year of life and for children hospitalized with a chronic health condition, implementation of TennCare improved continuity of coverage.     

Rates of hospitalization for respiratory syncytial virus infection among children in medicaid

OBJECTIVE: To determine rates of hospitalization associated with respiratory syncytial virus (RSV) infection among children with and without specific medical conditions. STUDY DESIGN: Retrospective cohort study of all children <3 years old enrolled in the Tennessee Medicaid program from July 1989 through June 1993 (248,652 child-years). RESULTS: During the first year of life, the estimated number of RSV hospitalizations per 1000 children was 388 for those with bronchopulmonary dysplasia, 92 for those with congenital heart disease, 70 for children born at < or = 28 weeks' gestation, 66 for those born at 29 to <33 weeks, 57 for those born at 33 to <36 weeks, and 30 for children born at term with no underlying medical condition. In the second year of life, children with bronchopulmonary dysplasia had an estimated 73 RSV hospitalizations per 1000 children, whereas those with congenital heart disease had 18 and those with prematurity 16 per 1000. Overall, 53% of RSV hospitalizations occurred in healthy children born at term. CONCLUSIONS: Children with bronchopulmonary dysplasia have high rates of RSV hospitalization until 24 months of age. In contrast, after the first year of life, children with congenital heart disease or prematurity have rates no higher than that of children at low risk who are <12 months old.     

Early feeding problems in an affluent society. III. Follow-up at two years: natural course, health, behaviour and development

The aim of this study was to investigate the natural course of later problems and their prevalence in children with early feeding difficulties. Forty-two children with feeding problems without any obvious medical reason during the first year of life were followed up prospectively to the age of two years. Comparisons were made with 42 age- and sex-matched controls. Information was obtained from parental interviews, medical records and assessments of psychomotor development. In 21 (50%) of the children with feeding problems the problems persisted at the age of two years. There were significantly higher frequencies of infections and behavioural problems among the children with early feeding problems than among the controls. No differences in psychomotor development were found. Recurrent infections, behaviour problems and psycho-social problems were significantly correlated with severe persistent feeding problems at the age of two years.     

Reasons for trisomy 13 or 18 births despite the availability of prenatal diagnosis and pregnancy termination

BACKGROUND: Few studies have evaluated the reasons why lethal chromosomal anomalies continue to occur despite the importance of this question for maximizing perinatal care. AIMS: To determine why trisomy 13 or 18 births continue to occur in Alaska. STUDY DESIGN: Case series involving review of maternal and infant medical records. SUBJECTS: All 28 known infants and fetuses that died with trisomy 13 or 18 during 1992-2001 and their mothers. OUTCOME MEASURES: The proportion of mothers that declined or received a variety of routine prenatal tests, the results of prenatal testing, and the impact of testing on decisions related to pregnancy. RESULTS: Seventeen women declined pregnancy termination or amniocentesis, 10 had no prenatal risk factors and were not offered these procedures, and one woman had an amniocentesis but was not offered pregnancy termination. Twenty-six women had >/=1 prenatal ultrasounds; for 17 women, these were interpreted as normal throughout pregnancy (n=11) or until after 30 weeks gestation (n=6) despite substantial fetal malformations. Fourteen of 15 women with an abnormal ultrasound had an amniocentesis compared to one of eight women whose only risk factor was advanced maternal age. CONCLUSIONS: Most trisomy 13 or 18 deliveries occurred to women who declined amniocentesis or pregnancy termination. Failure to identify abnormalities on prenatal ultrasound may have contributed to the decision not to have these procedures.     

Current outlook of childhood cancer epidemiology in a middle-income country under a public health insurance program

In Mexico, childhood cancer (0–18 years) is treated in a multidisciplinary way while providing care for more than half of the affected children through a public medical insurance. This insurance is given to all children who do not have any health care coverage in Mexico. This program is offered to the poorest of all Mexicans. All the children with this disease are submitted to pathology diagnosis and treatment according to national treatment protocols from 57 accredited medical institutions. From 2007 to 2015, a total of 24,039 children with cancer have been registered; the male gender predominates by 55%. The highest incidence was in the group aged between 0 and 4 years. Every year, there has been an increment in registration. In 2015, there were 3,433 new patients with an incidence of 150.1/million. In the same year, the incidence for all types of leukemia increased to 89.5/million. But for acute lymphoblastic leukemia, the incidence was found to be 79.8/million, which is extremely high. The mortality rate for all these patients in 2015 was 5.3/100,000. However, with regard to children aged between 15 and 18 years, the mortality rate was 8.5/100,000. Abandonment rate was 10%, and there were nine state institutions that had a mortality rate between 25% and 50% among their patients. Coincidentally, as per the Human Development Index, the parameters for education, health, and income were low for those nine institutions. The purpose of this work is to show the epidemiology and the burden we are facing due to this disease.     

Immunodeficiency in a child with partial trisomy 6p

AIM: We present a mentally retarded boy with partial trisomy of the short arm of chromosome 6 as a result of an interstitial tandem duplication of 6p12.2-p21.31 and immunodeficiency. Patients with mental retardation because of a chromosomal disorder or eponymous syndrome often experience recurrent respiratory tract infections as a result of their associated anatomical or neurological abnormalities. However, associated immune defects may also significantly contribute to their susceptibility to infections. Timely recognition and appropriate treatment of their immunodeficiency will greatly improve quality of life in these patients. CONCLUSION: Immunodeficiency may be the direct cause of recurrent respiratory tract infections in patients with mental retardation because of a chromosomal disorder or eponymous syndrome, even in the face of feeding difficulties and multiple episodes of aspiration, as is illustrated in this boy with partial trisomy 6p.     

The Impact of Technology Dependence on Children and Their Families

Advances in medical care and technologies have prolonged life for many children with medical complexity. These advances and their effects reinforce the need for further research to determine how children and their families are being affected by technology dependence and their quality of life. A review of the literature suggests that children, as well as their family members, are negatively affected by technology dependence in a variety of psychosocial domains. Implications for clinical care and future research of this population are discussed.     

Psychiatric emergencies in children

OBJECTIVE: To examine the demographic and clinical characteristics of children using the pediatric emergency department (ED) in a medical center in Baltimore, Maryland. The rate of admission and length of stay for children who were evaluated in the ED were also examined. SETTING: A large, urban medical center with approximately 15,500 visits per year. RESULTS: During a 13-month period, more than 600 visits to the ED were made for mental health concerns for children aged 2 to 18 years, with psychiatric visits constituting more than 5% of total visits to the ED. Psychiatric visits averaged more than 5 hours' duration in the ED and involved significant effort by medical staff, with approximately one half of visitors undergoing psychiatric admission. Interviews conducted with the ED staff revealed that addressing psychiatric problems in children is a considerable burden and that there is a general lack of resources within the ED and the surrounding community to respond to the needs of children with psychiatric emergencies. CONCLUSION: The challenge in most communities is to build a true system of care that involves proactive and more preventive care in natural settings, such as schools, and coordination and improvement of care for youth with more serious problems.     

Early Feeding Problems in an Affluent Society

ABSTRACT. The aim of this study was to investigate the natural course of later problems and their prevalence in children with early feeding difficulties. Forty-two children with feeding problems without any obvious medical reason during the first year of life were followed up prospectively to the age of two years. Comparisons were made with 42 age- and sex-matched controls. Information was obtained from parental interviews, medical records and assessments of psychomotor development. In 21 (50%) of the children with feeding problems the problems persisted at the age of two years. There were significantly higher frequencies of infections and behavioural problems among the children with early feeding problems than among the controls. No differences in psychomotor development were found. Recurrent infections, behaviour problems and psycho-social problems were significantly correlated with severe persistent feeding problems at the age of two years.