Psychomotor development of children born after preimplantation genetic diagnosis and parental stress evaluation

Background

The increasing number of children conceived following preimplantation genetic diagnosis (PGD) necessitates the evaluation of their motor and cognitive development. The primary study objective was to evaluate the physical, developmental, and neurological outcome of children born after PGD in Greece. In addition, the secondary study objective was to compare the stress levels regarding parental roles between parents of PGD children and those of naturally conceived children.

Methods

A cross-sectional study design was applied. The study population consisted of 31 children (aged 2 months to 7.5 years) born after PGD analysis and their parents. The developmental evaluation of children included a detailed physical evaluation and cognitive assessment with the Bayley Scales of Infant Development. The parent stress index was applied to evaluate comparative parental stress levels between those parents of PGD children and those of naturally conceived healthy children.

Results

High rates of caesarean deliveries, increased incidence of prematurity, multiples and low-birth weight were observed among the 31 PGD children. Overall, 24 of the 31 PGD children had cognitive skills within normal range [general developmental quotient (GDQ): 86?C115], while 6 children had lower levels of cognitive skills (GDQ<85). With regard to parental stress, PGD parents reported lower levels of parenting stress as compared to parents of naturally conceived children (P<0.01).

Conclusions

The enhanced frequency of poor cognitive and motor skills as well as low parental stress necessitates early detection and intervention for developmental delays among PGD children.     

儿童阻塞性睡眠呼吸暂停低通气综合征筛查诊断的研究进展

儿童阻塞性睡眠呼吸暂停低通气综合征是一种严重危害儿童健康的疾病,可扰乱儿童正常通气和睡眠结构。未经治疗的儿童阻塞性睡眠呼吸暂停低通气综合征可导致多个系统器官的损害,引发神经认知功能、心血管、代谢、内分泌等疾病,甚至可以导致儿童猝死。整夜多导睡眠监测是目前诊断儿童阻塞性睡眠呼吸暂停低通气综合征的金标准,但是由于检查费用较...     

昆明地区儿童地中海贫血筛查和基因诊断分析

目的：调查云南省昆明地区儿童地中海贫血（地贫）基因突变类型和频率。方法对昆明地区1338例儿童进行RBC脆性、MCV、血红蛋白电泳生化筛查。对筛查阳性的α-地贫患儿用gap-PCR方法、β-地贫用PCR-RDB方法进行基因诊断。结果地贫生化筛查阳性率为11.36%(152 例),基因诊断阳性率为8.59% (115 例)。115例经基因诊断确诊为地贫的样本中,α-地贫43例,β-地贫68例,α合并β地贫4例;43例α-地贫中,--SEA/αα型占47%,-α4.2 /αα型占21%,HbH病占14%;68例β-地贫共检测出6个基因位点发生突变,突变频率依次为βE（32%）、CD41-42（24%）、CD17（23%）、IVS-II654（10%）、CD71-72（10%）、-28（1%）。结论 昆明地区儿童地贫基因突变率较高,开展婚检及产检生化筛查和基因诊断十分必要。     

Growth and weight gain of prepubertal children after cardiac transplantation

Abstract:  This study evaluated changes in growth parameters after pediatric heart transplantation and identified factors associated with the changes after pediatric heart transplantation (OHT). We retrospectively evaluated the somatic growth of 46 children <11 yr of age who underwent OHT for changes in weight, height, and BMI. The patient age range was 3.5 months to 10.7 yr. Gain in Z score for weight and BMI was significant at six months post-OHT (mean weight Z score changed from −1.1 to −0.1 and mean BMI Z score changed from −0.1 to 1.3; p < 0.001). After six months post-OHT, there was no further significant change in weight or BMI Z score. Height Z score did not show significant change from pre-OHT at six months, one yr, or two yr post-OHT. Eight patients (17%) became overweight during the two-yr follow-up period as evidenced by a BMI Z score > 2. Multivariate analysis showed length of steroid treatment as a predictor for negative height Z score change, and age at transplant as a predictor for positive height Z score change. Post-OHT, weight significantly increases without proportional increases in height, resulting in a significant proportion of these children becoming obese. Length of steroid therapy is negatively related to the "catch-up" linear growth following OHT.     

Quality of life after orthotopic liver transplantation in children. An overview of physical,psychological and social outcome

Orthotopic liver transplantation is now routinely performed as a cure of numerous untreatable paediatric liver diseases. Evaluation of post-transplant quality of life is subjective and very difficult. It has to take into account the pre-transplant quality of life and the emotional stress to the family. Transplantation saves life in 65%–90% of the patients. Several diseases may, however, recur after transplantation, such as hepatitis B, C or NANB, or tumours. Some metabolic diseases may also progress in other organs. Extra-hepatic manifestations or sequelae may persist after transplantation. Complications of transplantation include renal function impairment, hypertension, viral and opportunistic diseases. Of particular concern is the post-transplant lymphoproliferative syndrome. Liver transplantation is able to restore growth. Children are less frequently admitted to hospital after transplantation, take fewer medications, return to school, are less dependent and interact more normally with their peers. Quality of life may not reach perfection, and depends also on the way our society accepts these imperfections.     

Quality of life and functional outcome in early school-aged children after neonatal stroke: A prospective cohort study

BackgroundQuality of life (QoL) is recognized internationally as an efficient tool for evaluating health interventions. To our knowledge, QoL has not been specifically assessed in children after neonatal arterial ischemic stroke (AIS).AimTo study the QoL of early school-aged children who suffered from neonatal AIS, and QoL correlation to functional outcome.MethodWe conducted a multicenter prospective cohort study as part of a larger study in full-term newborns with symptomatic AIS. Participating families were sent anonymous QoL questionnaires (QUALIN). Functional outcome was measured using the Wee-FIM scale. Healthy controls in the same age range were recruited in public schools. Their primary caregivers filled in the QUALIN questionnaires anonymously. We used Student's t-test and a rank test to compare patients and controls' QoL and functional outcomes.Results84 children with neonatal AIS were included. The control group was composed of 74 children, of which ten were later excluded due to chronic conditions. Mean ages and QUALIN median scores did not differ between patients and controls. Median Wee-FIM scores were lower in hemiplegic children than in non-hemiplegic ones (p < 0.001). QoL scores did not seem correlated to functional outcome.InterpretationThose results could support the presence of a “disability paradox” in young children following neonatal AIS.     

Growth patterns, health and illness in preschool children from a multi-ethnic, poor socio-economic status municipality of Melbourne

There are little longitudinal data available for sample populations of Australian children. Previous findings from the Brunswick Family Study, unlike earlier overseas studies, have shown that adverse family and social factors were not associated with growth abnormalities. Follow-up of 224 children from the cohort at 4 years of age has confirmed absence of significant growth disturbances, no mortality between 1 and 4 years, and serious morbidity due to organic illness in only 4% of the sample. However, 22% of the 4 year olds were found to have behaviour disturbances. These findings from a multi-ethnic, poorer socio-economic status population sample illustrate the importance of behaviour disturbances as one aspect of the new morbidity in Australian paediatrics and indicate that the once prevalent growth failure and organic morbidity consequent to family and social disadvantage have all but disappeared.     

Ketoacidosis at diagnosis of type 1 diabetes: Effect of prospective studies with newborn genetic screening and follow up of risk children

We studied the frequency of diabetic ketoacidosis (DKA) in children at diagnosis of type 1 diabetes (T1D) in a region where newborn infants have since 1995 been recruited for genetic screening for human leukocyte antigen (HLA)‐conferred disease susceptibility and prospective follow up. The aim was to study whether participation in newborn screening and follow up affected the frequency of DKA, and to follow the time trends in DKA frequency. We first included children born in Oulu University Hospital since 1995 when the prospective studies have been ongoing and diagnosed with T1D <15 years by 2015 (study cohort 1, n = 517). Secondly, we included all children diagnosed with T1D <15 years in this center during 2002‐2014 (study cohort 2, n = 579). Children who had an increased genetic risk for T1D and participated in prospective follow up had low frequency of DKA at diagnosis (5.0%). DKA was present in 22.7% of patients not screened for genetic risk, 26.7% of those who were screened but had not an increased risk and 23.4% of children with increased genetic risk but who were not followed up. In study cohort 2 the overall frequency of DKA was 18.5% (13.0% in children <5 years, 14.0% in children 5‐10 years and 28.6% in children ≥10 years at diagnosis; P<.001). In children <2 years the frequency of DKA was 17.1%. Participation in prospective follow‐up studies reduces the frequency of DKA in children at diagnosis of T1D, but genetic screening alone does not decrease DKA risk.     

CYP2C19基因多态性对质子泵抑制剂代谢及儿童幽门螺杆菌根除疗效的影响

CYP2C19基因多态性是酶活性差异的基础,并可影响包括质子泵抑制剂在内的多种药物代谢。CYP2C19基因分布有地区和种族的差异,研究CYP2C19基因型与质子泵抑制剂的关系对儿童幽门螺杆菌的个体化治疗有重要意义。该文就CYP2C19基因多态性对质子泵抑制剂及儿童幽门螺杆菌根除疗效的影响作一综述。     

Clinical applications of computerized tomography 3-D reconstruction imaging for diagnosis and surgery in children with large liver tumors or tumors at the hepatic hilum

The present study assessed the benefits of 3-D reconstruction of spiral computerized tomography (CT) scans for the diagnosis of and surgical guidance to large liver tumors or tumors at the hepatic hilum. We retrospectively analyzed the cases of 18 children with large liver tumors or with tumors at the hepatic hilum treated in past 5 years. The ages ranged from 45 days to 14 years. Ten cases were examined using the three-dimensional reconstruction using 64 slice spiral CT and eight patients underwent conventional CT or conventional enhanced CT scanning. In 16 cases, the volume of tissue removed exceeded one-third the entire volume of the liver (considered “large” tumors). The largest tumor removed weighed 4.8 kg. In two cases, the excised tissue represented less than one-third of the total liver volume, but in these cases the location of the tumor was considered “complex” due to the proximity to major hepatic vessels. Seven tumors were located in the right lobe, three in the left lateral segment, three in medial segment, three extended beyond the right lobe and two extended beyond the left lateral segment. Pathological diagnoses included hepatoblastoma (n = 9), hepatocellular carcinoma (n = 2), mesenchymal hamartoma (n = 4), teratoma (n = 1) and adenoma (n = 2). The 3-D reconstructed images could be rotated to view the image from several sides, were semitransparent and allowed for the measurement of tumor size and determination of spatial relation to blood vessels. All 18 children had curative resections as indicated by “tumor-free” microscopic margins. No major intra- or postoperative complications were encountered. Three-dimensional CT imaging can provide high quality images of the tumors and location of the tumor relative to vital hepatic blood vessels. This technique offers a kind of comparatively accurate method compared with traditional imaging techniques, it could help the surgeon identify the tumor borders accurately and devise a comparative safe surgical strategy. With its help the surgeon could identify vital hepatic blood vessels before operation, so they can avoid massive hemorrhaging and avoid massive hemorrhaging during operation. This technique should be more widely applied in the resection of large or complex liver tumors.     

Motor and cognitive outcome at school age of children with surgically treated intestinal obstructions in the neonatal period

Background

The motor and cognitive outcome at school age of newborn children with surgically treated intestinal obstructions is unknown. Physiological stress and anesthesia may potentially be harmful in the period of early brain development in newborn infants.

Objective

To determine motor and cognitive outcome at school age in children with surgically treated intestinal obstructions as newborns, and to identify clinical risk factors for adverse outcome.

Study design

Cohort study of infants born between 1995 and 2002 with atresia, stenosis, or intestinal malrotation. At 6 to 13 years we assessed their motor functions, intelligence, attention, visual perception, visuomotor integration, and verbal memory.

Results

Of 44 children three (7%) died. Twenty-seven survivors (66%) were included for follow-up (median gestational age 36.7 weeks, birth weight 3000 g). Motor outcome was abnormal (< 5th percentile) in 22% of the children, which was significantly more than in the norm population (P < 0.01). Scores on selective attention were abnormal in 15% of the children (P < 0.01). Other cognitive functions were not affected. Lower birth weight and intestinal perforation were risk factors for poorer motor outcome (R² = 53.0%), intrauterine growth restriction was a risk factor for poorer selective attention (R² = 36.6%).

Conclusions

Children treated surgically for intestinal obstructions in the neonatal period had an increased risk for poor motor functioning and selective attention at school age. Low birth weight, intrauterine growth restriction and intestinal perforation were risk factors for adverse outcome. We recommend to closely follow the motor and attentional development of these children.     

Performance of 2-year-old children after early surgery for congenital heart disease on the Bayley Scales of Infant and Toddler Development, Third Edition

Background

Previous research on developmental outcomes of infants with congenital heart disease (CHD) has shown delays in both cognitive and motor skills.

Aims

To describe outcomes on the Bayley Scales of Infant and Toddler Development, 3rd edition (Bayley-III) for infants with CHD and to compare those findings to published results for similar samples of infants assessed on the 2nd edition of the Bayley Scales (BSID-II).

Study design

Prospective cohort.

Participants and outcome measures

Of 50 infants with CHD who participated in this longitudinal study (2006–2008) at the Royal Children's Hospital in Melbourne, Australia, 47 were assessed on the Bayley-III (median age = 24.5 months), administered by a psychologist or neonatologist. Although neither assessor was blind to the CHD diagnosis, they were unaware of results of previous developmental assessments conducted in this longitudinal study.

Results

For the Bayley-III cognitive composite score, 17.0% of infants showed mild delays (1–2 SD below the mean), 2.1% had moderate delays (2–3 SD below the mean), and none had severe delays (greater than 3 SD below the mean). Motor composite scores showed mild delays in 10.9% of infants and moderate delays in 2.2%; none had severe motor delays. These findings differ from study results using the BSID-II in similar infants.

Conclusions

The Bayley-III may underestimate developmental delay in 2-year-old children with CHD when compared to results of similar children tested at 12–36 months of age on the BSID-II.     

Pharmacokinetics of growth hormone-releasing hormone(1–29)-NH2 and stimulation of growth hormone secretion in healthy subjects after intravenous or intranasal administration

The growth hormone-releasing hormone analogue GHRH(1–29)-NH, was administered intravenously or intranasally to 30 healthy men aged 19–43 years. Intravenous injection of the lowest dose tested, 0.25 μg/kg body weight, elicited significant release of growth hormone (GH). Maximal release (mean GH peaks of about 90 mU/1) was obtained with a dose of 1–2 μg/kg. Although GHRH(1–29)-NH₂ was rapidly eliminated after intravenous injection, GH levels were elevated for about 3 hours. Absorption of GHRH(1–29)-NH₂ through the nasal mucosa was found to be low, and the bioavailability was only 3–5%. There was a dose-dependent release of GH after intranasal administration of GHRH(1–29)-NH₂, with the maximal response obtained with about 50 μg/kg; this dose was approximately as potent as 1 μg/kg injected intravenously. The GH response after repeated intranasal administration of GHRH(1–29)-NH₂ was sustained; there was no suppression of GH secretion during the night following a day when GHRH(1–29)-NH₂ had been given three times intranasally. Based on these findings and the obvious convenience of intranasal administration compared with injections, it would be justified to test intranasal therapy for treatment of short stature in children with GH deficiency caused by hypothalamic damage.