Developmental outcome following posthemorrhagic hydrocephalus in preterm infants. Comparison of twins discordant for hydrocephalus

The mental development and neurologic outcome of four sets of preterm twins, in whom one infant within each pair developed posthemorrhagic hydrocephalus during the neonatal period, were assessed. Each hydrocephalic infant presented with signs of increased intracranial pressure and required placement of a ventriculoperitoneal shunt. Three of the four hydrocephalic infants required revision or replacement of the shunt during the first year. The four nonhydrocephalic infants had normal neurologic outcomes. All four hydrocephalic infants had some neurologic abnormalities on follow-up examination. Neurologic abnormalities were transient in one infant and persistent in three others, each of whom showed evidence of mild right hemiparesis. Within each twin pair, developmental rates and mental test scores were strikingly similar throughout infancy and early childhood. Two of the twin pairs have undergone psychological assessments at 8 and 11 years of age. Relatively lower IQ scores were obtained for the hydrocephalic child in each twin pair at these ages.     

Physical growth and cognitive abilities in concordant versus discordant birth weight twins at three years old

Background

Discordant birth weight twins have been shown to have high rates of adverse perinatal outcomes, but little is known about their growth and development.

Aim

To determine whether smaller and larger birth weight premature twins in concordant and discordant birth weight groups differ on measures of physical growth and intelligence at 3 years.

Study design

Prospective cohort study. Eight-four children, 52 concordant and 32 discordant birth weight twin pairs, were measured for height, weight, and head circumference and on intelligence at 3 years. Perinatal and demographic variables, including birth weight, head circumference, small for gestational age, zygosity, in vitro fertilization, gender and social class were recorded.

Results

Smaller and larger birth weight twins did not differ significantly from each other on any growth parameters in either concordant or discordant birth weight groups at 3 years of age. Smaller birth weight twins in the discordant birth weight group performed significantly less well on Verbal, Performance, and Full Scale IQ scores (Verbal IQ for smaller twins was 8.6 points lower, p < 0.005; Performance IQ, 11.9 points lower, p < 0.03; Full Scale IQ, 12.4 points lower, p < 0.004), but there were no significant intra-twin differences between larger and smaller birth weight concordant twins.

Conclusions

Smaller discordant birth weight twins performed significantly less well on intelligence, although they did not differ significantly from their larger twins on growth parameters at 3 years old. We conclude that smaller discordant birth weight twins had less optimal intra-uterine environments than their larger birth weight twin, which affected both their birth weights and brain development.     

出生体重不一致双胎0～4岁体格生长状况研究

目的　分析出生体重不一致双胎（birthweight discordant twins,BDT）0～4岁的体格指标,了解BDT出生体重以及BDT体格生长情况。方法　回顾性分析2010年9月至2017年12月重庆医科大学附属儿童医院儿童保健系统中出生体重不一致双胎（birthweight discordant twins,BDT）0～4岁的体格指标,运用R 3.5.3对数据库进行清理,以出生体重相差20%以上作为纳入标准,分析BDT的差异程度分布,同时对纳入的BDT儿童分别按早产和足月、正常出生体重和低/极低出生体重分组,绘制0～4岁体格指标拟合曲线,并分别与出生体重一致双胎、正常出生体重BDT的体格指标的拟合曲线以及WHO生长曲线（2006版）平均水平进行对比。出生体重差异程度比较及低/极低出生体重儿分布情况比较分析采用SPSS 19.0软件。结果　共纳入BDT 141对,占15.4%（141/916）。早产BDT出生体重差异程度高于足月BDT（t＝3.820,P＜0.001）。早产BDT差异持续时间更长。低/极低出生体重BDT 0～4岁体格生长水平较正常出生水平BDT落后。BDT末次随访时身高体重水平未达世界卫生组织（WHO）平均水平。结论　双胎出生体重的差异可能对其远期生长发育有持续性影响,早产BDT的出生体重差异更大,差异持续时间更长,低水平的出生体重是BDT中较轻者体格发育落后的重要原因。应定期监测BDT生长发育,提高随访依从性。     

Monozygotic twins discordant for ROHHAD phenotype

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) falls within a group of pediatric disorders with both respiratory control and autonomic nervous system dysregulation. Children with ROHHAD typically present after 1.5 years of age with rapid weight gain as the initial sign. Subsequently, they develop alveolar hypoventilation, autonomic nervous system dysregulation, and, if untreated, cardiorespiratory arrest. To our knowledge, this is the first report of discordant presentation of ROHHAD in monozygotic twins. Twin girls, born at term, had concordant growth and development until 8 years of age. From 8 to 12 years of age, the affected twin developed features characteristic of ROHHAD including obesity, alveolar hypoventilation, scoliosis, hypothalamic dysfunction (central diabetes insipidus, hypothyroidism, premature pubarche, and growth hormone deficiency), right paraspinal/thoracic ganglioneuroblastoma, seizures, and autonomic dysregulation including altered pain perception, large and sluggishly reactive pupils, hypothermia, and profound bradycardia that required a cardiac pacemaker. Results of genetic testing for PHOX2B (congenital central hypoventilation syndrome disease-defining gene) mutations were negative. With early recognition and conservative management, the affected twin had excellent neurocognitive outcome that matched that of the unaffected twin. The unaffected twin demonstrated rapid weight gain later in age but not development of signs/symptoms consistent with ROHHAD. This discordant twin pair demonstrates key features of ROHHAD including the importance of early recognition (especially hypoventilation), complexity of signs/symptoms and clinical course, and importance of initiating comprehensive, multispecialty care. These cases confound the hypothesis of a monogenic etiology for ROHHAD and indicate alternative etiologies including autoimmune or epigenetic phenomenon or a combination of genetic predisposition and acquired precipitant.     

Monozygotic twins with discordant intestinal rotation

Previous case reports have suggested a strong concordance of intestinal malrotation among identical twins. This has led to the recommendation that the asymptomatic twin undergo screening when malrotation is discovered in the identical sibling. We present a case of monozygotic twins in which one twin presented with intestinal malrotation with midgut volvulus while the other twin was found to have normal gastrointestinal anatomy.     

体外受精后出生的2岁幼儿生长发育的研究

常规体外受精（IVF）胚胎移植（ET）和单精子卵泡浆注射术（ICSI）妊娠出生儿童的生长发育状况越来越受到关注。我们于2003年12月至2005年12月,通过研究体外受精后出生的2岁幼儿的智力发育情况,评价体外受精的安全性。     

双胎体重不均衡临床病例分析

目的 探讨双胎体重不均衡与母亲妊娠期合并症及新生儿疾病的关系.方法 回顾性分析2010-2011年在我院分娩、并住我院新生儿重症监护病房治疗的双胎,双胎新生儿体重差≥20％为体重不均衡组,＜20％为体重均衡组,比较两组母亲合并症情况及两组新生儿结局.结果 共纳入74对双胎,其中体重不均衡组31对,占41.9％,母亲合并妊娠期高血压综合征、胎膜早破、妊娠期肝内胆汁淤积症、妊娠期糖尿病的比例均明显高于体重均衡组[41.9％比16.3％,32.2％比9.3％,35.5％比11.6％,25.8％比7.0％,P＜0.05].体重不均衡组新生儿窒息、肺炎、高胆红素血症、呼吸窘迫综合征、贫血、红细胞增多症、喂养不耐受的发生率均高于体重均衡组[16.1％比4.6％,19.4％比4.6％,12.9％比3.5％,17.7％比4.6％,17.7％比5.8％,14.5％比3.5％,19.4％比4.6％,P＜0.05].Logistic多元回归分析显示,母亲合并妊娠期高血压综合征、肝内胆汁淤积症、糖尿病,以及新生儿窒息、肺炎、高胆红素血症、呼吸窘迫综合征、贫血、喂养不耐受均与双胎体重不均衡有关.结论 母亲妊娠期合并症与双胎体重不均衡有关,而双胎体重不均衡可能为新生儿疾病的影响因素.     

Dichorionic twins discordant for intrauterine growth retardation

A policy of expectant management until 32 weeks of gestation in 29 dichorionic pregnancies discordant for growth retardation resulted in an overall mortality of 24% (95% CI 13.9-37.2%) and a handicap of 2.2% (95% CI 0-12.0%). None of the normally grown co-twins died or was handicapped as a result of iatrogenic prematurity.

     

Monozygotic twins discordant for external hydrocephalus.

External hydrocephalus (EH) is a transient, developmental condition in infancy characterized by macrocephaly and prominence of the subarachnoid spaces. The cause is unknown, but many patients have a family history consistent with autosomal dominant inheritance. This report describes a pair of monozygotic twins, only one of whom--the recipient of a twin-twin transfusion--has EH. Whatever the genotype of the twins, their discordant phenotypes suggest that the disproportionate calvarial growth that characterizes EH is set in motion--or not--during a limited, critical temporal window in fetal development.     

Neurological outcome of twins dissimilar in size at birth

The neurological outcome of dissimilar twins was studied in 22 pairs of babies having a birth weight difference of 25% or more (mean 1748 vs. 2531 g). In weight, height and head circumference no statistically significant difference could be found at the study time (mean age of the children 9.4 years) between the groups. In gross motor performance and mean school age grades there were no differences but in fine motor performance-balance-coordination (P < 0.02) and visuomotor perception (P < 0.01) a statistically significant difference was found favouring the larger group. It is concluded that dissimilarity carries an increased risk for signs of minimal brain dysfunction in the smaller twins.     

Neurological outcome of twins dissimilar in size at birth

The neurological outcome of dissimilar twins was studied in 22 pairs of babies having a birth weight difference of 25% or more (mean 1748 vs. 2531 g). In weight, height and head circumference no statistically significant difference could be found at the study time (mean age of the children 9.4 years) between the groups. In gross motor performance and mean school age grades there were no differences but in fine motor performance-balance-coordination (P less than 0.02) and visuomotor perception (P less than 0.01) a statistically significant difference was found favouring the larger group. It is concluded that dissimilarity carries an increased risk for signs of minimal brain dysfunction in the smaller twins.     

Congenital nystagmus in identical twins: discordant features

Identical twins with congenital nystagmus were examined and studied with eye movement recordings and videotaping. The nystagmus differed in its location of the null zone, its frequency and amplitude, the degree of persistence in the dark, and the degree of impairment of pursuit and optokinetic nystagmus. As the two boys have the identical genetic constitution, we postulate that the discordant features of the nystagmus represent variable expressivity or, alternatively, the influence of environmental factors.     

Monozygotic twins discordant for the acquired immunodeficiency syndrome

Monozygotic twin girls discordant for acquired immunodeficiency syndrome were born to parents with antibodies to human T-cell lymphotropic virus type III. One twin had clinical evidence of the syndrome with tests positive for antibody, whereas the other at the age of 3 years was clinically, serologically, and virologically normal.     

Effect of salt supplementation of newborn premature infants on neurodevelopmental outcome at 10-13 years of age

BACKGROUND: The nutritional requirements of prematurely born infants are different from those of babies born at term. Inadequate or inappropriate dietary intake in the neonatal period may have long term adverse consequences on neurodevelopmental function. The late effect of neonatal sodium deficiency or repletion in the premature human infant on neurological development and function has not been examined, despite evidence in animals of a serious adverse effect of salt deprivation on growth of the central nervous system. METHODS: Thirty seven of 46 children who had been born prematurely (gestational age of 33 weeks or less) and allocated to diets containing 1-1.5 mmol sodium/day (unsupplemented) or 4-5 mmol sodium/day (supplemented) from the 4th to the 14th postnatal day were recalled at the age of 10-13 years. Detailed studies of neurodevelopmental performance were made, including motor function and assessment of intelligence (IQ), memory and learning, language and executive skills, and behaviour. Sixteen of the children were found to have been in the supplemented group and 21 in the unsupplemented group. RESULTS: Children who had been in the supplemented group performed better in all modalities tested than those from the unsupplemented group. The differences were statistically significant (analysis of variance) for motor function, performance IQ, the general memory index, and behaviour as assessed by the children's parents. The supplemented children outperformed the unsupplemented controls by 10% in all three components of the memory and learning tests (difference not significant but p < 0.1 for each) and in language function (p < 0.05 for object naming) and educational attainment (p < 0.05 for arithmetic age). CONCLUSION: Infants born at or before 33 weeks gestation require a higher sodium intake in the first two weeks of postnatal life than those born at or near term, and failure to provide such an intake (4-5 mmol/day) may predispose to poor neurodevelopmental outcome in the second decade of life.