Survival of children born with congenital anomalies.

AIM: To describe the survival to age 5 years of children born with congenital anomalies. METHODS: Between 1980 and 1997, 6153 live born cases of congenital anomaly were diagnosed and registered by the population based Glasgow Register of Congenital Anomalies. They were retrospectively followed to assess their survival status from birth up to the age of 5 years. RESULTS: The proportions of all live born infants with congenital anomalies surviving to the end of the first week, and first and fifth year were 94%, 89%, and 88%, respectively. Survival to age 5, the end point of follow up, was significantly poorer for infants with chromosomal anomalies (48%) compared to neural tube defects (72%), respiratory system anomalies (74%), congenital heart disease (75%), nervous system anomalies (77%), and Down's syndrome (84%). CONCLUSION: Although almost 90% of all live born infants with congenital anomalies survive to 5 years, there are notable variations in survival between anomaly types. Our findings should be useful for both clinicians and geneticists to assess the prognosis of congenital anomalies. This information is also important for affected families and for the planning of health care needs for this high risk population.     

先天性气管支气管异常51例临床分析

目的分析经支气管镜检查诊断的先天性气管支气管异常患儿的临床特征。方法回顾分析了2003年1月至2007年11月在深圳市儿童医院接受诊断性支气管镜检查的135例患儿的结果,135例均采用异丙酚为主的静脉复合麻醉。结果共检出先天性气管支气管异常51例,检出率为37.8%(51/135),依次为气管、支气管软化32例,气管、支气管狭窄13例,气管性支气管11例,其中5例为2种或2种以上气道异常。21例患儿接受胸部CT检查,仅7例CT作出了正确诊断。对治疗反应不佳的喘息是先天性气管支气管异常最常见的症状,其他症状包括持续性局限性肺炎、肺不张或局限性肺气肿,气管插管困难,插管后拨管失败。18例(35.3%)合并其他部位畸形,分别为先天性心脏病、喉软化和气管食管瘘。结论先天性气管支气管异常在临床上并不少见,但其临床表现缺乏特异性,因此对可疑患儿应及时进行支气管镜检查以明确诊断。     

Associated anomalies in children with congenital solitary functioning kidney

Congenital solitary functioning kidney (CSFK) is a relatively common renal malformation and in children is frequently complicated by anomalies of the ipsilateral genital organs and occasionally by anomalies of other organs. The aim of this study was to determine the incidence of associated urological, cardiac, gastrointestinal, hematological, neurological, skeletal, and other congenital malformations in children with CSFK. We retrospectively reviewed 87 consecutive cases of CSFK diagnosed at our hospital between 1995 and 2003. There were 45 boys and 42 girls, whose ages at diagnosis ranged from newborn to 16 years (mean 4.67±4.48 years). In all patients, CSFK was diagnosed by abdominal ultrasound and confirmed by radionuclide studies. In 46 patients (53%) the left kidney was absent, and in 41 patients (47%) the right kidney was absent. Overall associated anomalies were detected in 52 of the 87 children (60%) with CSFK. Urological anomalies were most common, with an incidence of 37% (32/87). Nonurological anomalies were detected in 38 children (44%) with CSFK; these included cardiac anomalies in 13, gastrointestinal anomalies in eight, hematological anomalies in five, neurological anomalies in three, and other organ anomalies in nine. In our study, more than half of the patients with CSFK had associated anomalies. For this reason we recommend abdominal ultrasound and voiding cystourethrogram for early recognition of urological anomalies and a careful physical examination for other organ anomalies in patients with CSFK.     

Health-related quality of life in children born with congenital diaphragmatic hernia

Purpose

The aim of this study was to examine health-related quality of life (HRQoL) in children born with congenital diaphragmatic hernia (CDH).

Methods

Between 1993 and 2003, a total of 102 children born with CDH were treated at Astrid Lindgren Children’s hospital in Stockholm. In 2012, long-term survivors (n?=?77) were asked to participate in the present study, which resulted in a 46% (n?=?35) response rate. The KIDSCREEN-52 questionnaire was used for measuring HRQoL and a detailed review of medical records was performed.

Results

The study participants did not differ from the non-participants in terms of prenatal diagnosis, gender, side of lesion, method of surgical repair, time to intubation, need for ECMO support, or way of discharge from the hospital. Children born with CDH considered themselves to have a good HRQoL, as good as healthy Swedish children. There were only a few significant HRQoL differences within the group of children with CDH, although several median scores in ECMO-treated patients were somewhat lower. Correlations between child and parent scores on HRQoL were low.

Conclusions

Health-related quality of life in children born with CDH is good overall, however, a correlation between the severity of the malformation and HRQoL cannot be excluded.

     

Prevalence of minor congenital anomalies in diabetic children

The prevalence of 52 minor congenital anomalies (MCAs) was determined in 111 children with insulin dependent diabetes mellitus (IDDM), and in 111 healthy matched control subjects. The average MCA per person was 1.60 in diabetic children and 0.86 in the controls (p less than 0.001). The difference was exclusively due to the significantly higher proportion of subjects with 3 or more MCAs in the diabetic group (27.0 versus 9.9%; p less than 0.001). No specific MCA characteristic of IDDM was found.     

先天性心脏病合并气道异常的临床分析

目的 探讨先天性心脏病（CHD）合并气道异常患儿的临床特征和预后。方法 回顾性分析重庆医科大学附属儿童医院2012年1~12月行胸部多排螺旋CT（MDCT）+气道重建和（或）纤维支气管镜（纤支镜）检查的住院CHD患儿的临床资料,按是否合并气道异常分为气道异常组和气道正常组,根据检查指征的不同,将气道异常组进一步分为心脏指征亚组和气道指征亚组。从病史中截取临床特征、CHD类型、气道异常类型、治疗和预后等资料,行气道正常组和异常组的比较。 结果 460例CHD病例进入分析。气道异常组195例（42.4%）,男113例,中位年龄6月龄（1 d至14.5岁）;气道正常组265例,男157例,中位年龄3.9月龄（1 d至15.4岁）。①166/195例存在1种气道异常,包括：单纯气道狭窄（125例,64.1%）、单纯气管性支气管（21例,7.2%）、单纯对称性支气管（8例,4.1%）和单纯气道软化（6例,3.1%）等,29例伴2种及以上气道异常;外源性压迫所致气道狭窄占80.9%（123/152）。②不同类型CHD合并气道异常的比例：血管环为84.2%,梗阻型为51.5%,发绀型为49.1%,左向右分流型为33.8%。气道指征亚组左向右分流型的比例高于心脏指征亚组（62.4% vs 20.3%）,发绀型比例低于心脏指征亚组（12.0% vs 51.4%）。③气道异常组喘息、既往肺炎≥3次的比例显著高于气道正常组（P＜0.05）。 ④气道异常组均未行外科治疗,随访复查MDCT+气道重建19例（轻度气道狭窄4例,中度气道狭窄15例）,其中气道狭窄消失6例（CHD术后均>1年）,减轻6例（CHD术后 <1年5例）,无明显变化5例（出院>1 年,CHD均未矫治）,加重者2例。气道异常组死亡22例。结论 儿童CHD合并气道异常的类型以气道狭窄最多见。对血管环和（或）反复呼吸道感染、喘息的CHD患儿应注意合并气道异常可能。大多数继发性轻中度气道狭窄在外源性压迫解除后1年以上,气道狭窄可能逐渐恢复正常。     

Hearing loss in children with congenital cytomegalovirus infection born to mothers with preexisting immunity

OBJECTIVE: To define hearing outcomes in children with congenital cytomegalovirus (CMV) infection born to mothers with non-primary CMV infection. STUDY DESIGN: A cohort of 300 children with congenital CMV infection identified by newborn virologic screening at the University of Alabama Hospital and a private community hospital in which the type of maternal infection could be classified constituted the study population. Maternal infections were categorized by analyzing serum samples. Children were followed prospectively and underwent serial audiologic evaluations. RESULTS: The frequency of hearing loss was not different between children born to mothers with non-primary infection (10%) and those with primary infection (11%). Significantly more children in the primary infection group had progressive and severe/profound hearing loss compared with children in the non-primary group. The frequency of bilateral, delayed onset, high-frequency, and fluctuating hearing loss was not different between the 2 groups. The mean age of diagnosis of hearing loss was 39 +/- 53 months for children born to mothers with non-primary infection and 13 +/- 21 months for the primary infection group (P = .16). CONCLUSIONS: Maternal preexisting seroimmunity to CMV does not provide complete protection against hearing loss in infants with congenital CMV infection.     

Behavioral,emotional and social functioning in children born with congenital diaphragmatic hernia

Purpose

The aim was to investigate social competence and behavioral and emotional problems in children and adolescents born with CDH.

Methods

All children born with CDH, treated in Stockholm 1990–2009, were invited to participate. After written consent, the Child Behavior Checklist or Adult Self-Report questionnaires were sent to participants. Of the 145 long-term survivors, 51% returned a completed questionnaire. Both the syndrome and competence scales were used and open-ended questions were analyzed with manifest content analysis.

Results

All parents of children aged 1.5–5 years and 90% of parents of children aged 6–18 years reported a normal range on the syndrome scale. Five parents indicated internalizing, but none externalizing behavior. All young adults achieved a normal score on the syndrome scale. Eighty-five percent had normal school achievement, 79% had normal social scores and 40% had normal activity levels. Significantly fewer boys (23%) were in the normal activity range compared with 67% of girls.

Conclusions

The vast majority of all parents of children born with CDH scored no behavioral or emotional problems, furthermore, they reported normal social and school competence. However, the activity levels seemed to be reduced in children born with CDH.

     

The child with multiple congenital anomalies

Specific ways to improve the delivery of comprehensive care to a family whose child has multiple congenital anomalies include the following: 1. Develop a diagnostic plan which establishes medical, psychosocial, and developmental priorities at different ages. 2. Keep lists in the front of the chart which allow easy reference regarding problems, procedures, and resources. 3. Establish communication with designated community and educational coordinators, discussing who will be rendering which services. 4. Ask the parents to keep a notebook which will serve as a repository for notes and communication, accessible to all people caring for the child. Though some of these ideas require extra time at the beginning, the time saved later can be significant.     

Complex congenital cardiovascular anomalies evaluated by continuous-rotation computed tomography in children

Summary The slip ring and nutate/rotate configuration of the new, fourth-generation, computed tomography (CT) (TCT-900S, Toshiba Medical Company) makes it possible to scan consecutively 25 slices every 75 s. This scanner also rapidly provides hemodynamic and multiplanar reconstruction images. Studies were performed on 13 children with various forms of complex congenital cardiovascular anomalies. The findings correlated very well with those by angiocardiography and echocardiography. But the cardiac valves were difficult to scan, and combined use with echocardiography was considered to be indispensable. The rapid multiplanar reconstruction imaging is very effective in depicting coarctation of the aortic isthmus, ductus arteriosus, and hypoplasia of the great arteries in newborns and infants who have small target regions. Cine-displays of such images can clearly show ventricular and atrial septal defects. This new CT system proved effective in diagnosing complex congenital cardiovascular anomalies even in young infants.     

Survival with hypopituitarism from congenital syphilis

Congenital syphilis continues to occur despite the advances in testing of pregnant women in many countries and the availability of penicillin since 1943. This is a report of a child with multiple systemic manifestations of congenital syphilis. This is one of the few cases of survival with pituitary involvement from congenital syphilis and the first noted case in which diabetes insipidus developed. Institution of routine testing in all countries might have prevented the severe manifestations of syphilis seen in this child.