Pelvic ultrasonography in normal girls and in girls with pubertal precocity

This prospective study sought to evaluate the role of pelvic ultrasonography in differentiating between various types of pubertal precocity. A control group of 117 normal girls (aged 1.1-15.6) was studied and compared with 87 girls with premature sexual maturation (aged 1.1-9.2y). Of these patients 19 had central precocious puberty (CPP), 48 had isolated premature thelarche (IPT) and 20 had premature adrenarche (IPA) Pelvic ultrasound variables evaluated were: (i) uterus: longitudinal diameter (uterine length), cross-sectional area (CSA) and fundo-cervical ratio; and (ii) ovaries: volume and morphology. Ovarian morphology was subdivided in 6 different appearances: solid, microcystic, paucicystic, multicystic, macrocystic, and major isolated cyst. In normal control girls, uterine length and CSA increased with age, although no cut-off values could be defined between different age ranges, and they were correlated with breast stage; fundo-cervical ratio was stable through childhood and increased after age 9. Ovarian volume was significantly greater in pubertal girls with breast stage 2 than in those with only pubic and/or axillary hair. There was a clear predominance of solid ovarian appearances in the age range 2-7, with the multicystic appearance being seen only after age 7, a minority being macrocystic. After age 10 all the different patterns were observed, and after age 13 the frequency of a macrocystic pattern increased. Significantly more mature ovarian appearances were observed in subjects with breast development compared with those without, independently of the presence of pubic hair. Patients with IPT had no significant differences in pelvic ultrasound measurements when compared with age-matched controls. All the different morphological ovarian appearances were observed in IPT, in contrast to age-matched controls, where only the less mature patterns (solid, micro- and paucicystic) were seen. Patients with CPP had significantly more mature patterns of ovarian morphology compared with age-matched controls, but did not differ from pubertal pre-menarcheal controls. Those patients with IPA differed from age-matched controls only in having significantly greater uterine length and CSA. Comparison of the pelvic ultrasound parameters between patient groups (IPT, CPP, IPA) and age-matched controls revealed significantly higher values in CPP for uterine length, uterine CSA and ovarian volume. Ovarian volume was also greater in IPT than in IPA. Ovarian morphology was significantly different in patients (IPT, CPP, IPA) compared with age-matched controls, but none of the ovarian morphological appearances was exclusive to a single condition. In conclusion: (i) pelvic ultrasound parameters increase progressively from birth to maturity, but no clear cut-off values can be established between age ranges; (ii) pelvic ultrasound variables reach adult values during puberty, with differences in the timing that may reflect geographical variations; (iii) the multicystic ovarian appearance occurs just before the onset of puberty; (iv) pelvic ultrasonography cannot always differentiate clearly between different disturbances of puberty and therefore cannot supersede other observations and investigations in the evaluation of pubertal disorders; and (v) in this study we propose a more detailed pelvic ultrasound terminology that can avoid apparent confusion in defining ovarian ultrasound appearance.     

Per-Catheter ASD Closure

Per-catheter devices for atrial septal defect (ASD) closure have been evolving since 1974. The four major devices available for use on a limited basis in early 1997 are reviewed. These include (in alphabetical order) the Angel Wing device, the ASDOS device, the Buttoned device, and the CardioSeal device (successor to the Clamshell). Sufficient data have been collected to indicate that transcatheter ASD closure is a viable alternative to surgery in selected patients. The advantages of the concept of per-catheter closure over surgical closure should lead to the continued development of devices and techniques for per-catheter treatment of ASD and other septal defects in the years to come.     

The co-occurrence of autism spectrum disorder and attention-deficit/hyperactivity disorder symptoms in parents of children with ASD or ASD with ADHD

Background: Autism spectrum disorder (ASD) and attention‐deficit/hyperactivity disorder (ADHD) share about 50–72% of their genetic factors, which is the most likely explanation for their frequent co‐occurrence within the same patient or family. An additional or alternative explanation for the co‐occurrence may be (cross‐)assortative mating, e.g., the tendency to choose a partner that is similar or dissimilar to oneself. Another issue is that of parent‐of‐origin effect which refers to the possibility of parents differing in the relative quantity of risk factors they transmit to the offspring. The current study sets out to examine (cross‐)assortative mating and (cross‐)parent‐of‐origin effects of ASD and ADHD in parents of children with either ASD or ASD with ADHD diagnosis. Methods: In total, 121 families were recruited in an ongoing autism‐ADHD family genetics project. Participating families consisted of parents and at least one child aged between 2 and 20 years, with either autistic disorder, Asperger disorder or PDD‐NOS, and one or more biological siblings. All children and parents were carefully screened for the presence of ASD and ADHD. Results: No correlations were found between maternal and paternal ASD and ADHD symptoms. Parental ASD and ADHD symptoms were predictive for similar symptoms in the offspring, but with maternal hyperactive‐impulsive symptoms, but not paternal symptoms, predicting similar symptoms in daughters. ASD pathology in the parents was not predictive for ADHD pathology in the offspring, but mother’s ADHD pathology was predictive for offspring ASD pathology even when corrected for maternal ASD pathology. Conclusions: Cross‐assortative mating for ASD and ADHD does not form an explanation for the frequent co‐occurrence of these disorders within families. Given that parental ADHD is predictive of offspring’ ASD but not vice versa, risk factors underlying ASD may overlap to a larger degree with risk factors underlying ADHD than vice versa. However, future research is needed to clarify this issue.     

全生物可降解型房间隔缺损封堵器封堵猪房间隔缺损的实验研究

目的评估全生物可降解型房间隔缺损(ASD)封堵器封堵猪ASD的疗效、并发症、生物相容性等。方法房隔穿刺及Rashkind球囊房隔造口术构建猪ASD模型成功后,即刻在透视及经食管超声心动图引导下用所设计全生物可降解型ASD封堵器封堵所构建ASD。术后1周、1个月、3个月和6个月处死实验猪,并行大体标本肉眼观察研究。结果共对10只制备好ASD模型的实验猪进行了封堵,技术成功率100%;术中及术后均未出现残余分流、心律失常、感染等并发症;大体解剖标本见内膜组织从边缘逐渐完全覆盖装置表面,未见装置表面赘生物及血栓形成,装置均未发生移位。结论全生物可降解型ASD封堵器关闭猪ASD技术成功率高、动物实验结果与金属ASD封堵器相仿,是一种安全、有效、可行的方法。其远期及对中、大型ASD的封堵疗效还有待进一步研究。     

一对双胎女童同时感染新型冠状病毒

该文报道湖南省一对诊断为新型冠状病毒（SARS-CoV-2）感染的双胞胎女童的诊疗经过。患儿为1岁2月龄女童，分别因发热1 d及咳嗽、打喷嚏2 d于2020年1月29日入院。对症治疗后均痊愈。两例患儿症状均较轻，恢复较快，提示儿童SARS-CoV-2感染可能以轻症为主，预后较好。两例患儿临床症状和影像学改变均存在差异，提示儿童SARS-CoV-2感染的临床特征存在多样性。     

Cardiac dysrhythmias after transcatheter closure of ASD with Amplatzer device

Transcatheter closure of atrial septal defect (ASD) has been used as an alternative to open heart surgery. Although transcatheter closure of ASD with the Amplatzer septal occluder is a safe and feasible method in pediatric patients, there is little published data on arrhythmia analysis following transcatheter device closure of secundum ASD. We evaluated cardiac dysrhythmias with 24-hour ambulatory electrocardiographic (ECG) monitoring after transcatheter closure of ASD with Amplatzer device. A total of 85 consecutive patients with ASD underwent transcatheter closure of secundum ASD with Amplatzer device between October 1998 and December 2003. The study involved 65 of these patients assessed by 24-hour ambulatory ECG monitoring. Seven patients were evaluated a second time by 24-hour monitorization. During the procedure, transient complete atrioventricular (AV) block was seen in two patients. One of them returned to normal sinus rhythm in catheterization lab and the other returned to normal sinus rhythm in two hours. Transient junctional rhythm was observed in another patient during the device placement. Twenty-four hour ambulatory ECG monitoring was performed on all patients after a mean four-month period (1-12 months). Holter recordings demonstrated rare supraventricular extrasystole in two patients, rare ventricular premature beats in two patients, and intermittent sinus arrest with sinus pause lasting <1.5 seconds in one patient, for a total of five patients (7.6%). In conclusion, dysrhythmias after transcatheter device closure of secundum ASD with Amplatzer device are rare and benign. We need further long-term follow-up to evaluate late dysrhythmias after the transcatheter device closure of secundum ASD.     

A prospective study of toddlers with ASD: short-term diagnostic and cognitive outcomes

Background:  Despite recent increases in the number of toddlers referred for a differential diagnosis of autism spectrum disorders (ASD), knowledge of short-term stability of the early diagnosis as well as cognitive outcomes in this cohort is still limited.
Method:  Cognitive, social, and communication skills of 89 clinic-referred toddlers were assessed at the average age of 21.5 (SD = 4.9) months, and reassessed at 46.9 (SD = 7.7) months. Groups with stable and unstable diagnostic presentation were identified and compared on their profile of cognitive and social-communicative skills obtained at the time of initial diagnosis.
Results:  Stability of the ASD diagnosis was 100%; diagnosis of autism was stable in 74% of cases as compared to 83% and 81% in PDD-NOS and Non-ASD groups, respectively. Worsening of social disability symptoms resulting in autism diagnosis was noted in 17% of toddlers initially diagnosed with PDD-NOS and in 19% of toddlers with initial diagnosis of non-ASD disorder. However, marked improvement was noted in approximately 1/4 of children initially presenting with autism, warranting diagnostic reassignment to PDD-NOS at follow-up. An analysis of developmental skills profiles suggests particular relevance of the assessment of verbal and nonverbal communication skills to diagnostic differentiation between subtypes within ASD in the second year of life.
Conclusions:  Stability of ASD diagnosis in toddlers is high, though marked changes in severity of symptoms is to be expected in a minority of cases. Simultaneous consideration of cognitive, social, and communication skills profiles enhances accuracy of diagnostic classification and prediction of outcome.     

Growth and nutrition in 10 girls with Rett syndrome

Cross-sectional and retrospective data on growth and anthropometric outcome, feeding problems and dietary intake are presented for 10 girls between three and 16 years of age with Rett syndrome. All girls had birth weight and length within the normal range for gestational age and development was considered normal until six to 24 months of age. The girls presented a fall off in linear growth during the first two years of life and at the time of study, all but one had height and/or weight for height below the 2.5th percentile of healthy children. The girls had good appetite but could not eat by themselves and oral-motor dysfunctions were common. The mean energy intake was 66.9% of the US recommendations according to age and 107.8% of the recommendations according to body weight. The intakes of thiamin, vitamin D, calcium and iron were considered low. None was anaemic. Different nutritional intervention strategies should be investigated to reduce and, if possible, prevent malnutrition and wasting in girls with Rett syndrome.     

Sibling influences on theory of mind development for children with ASD

Background: Research indicates that having child siblings is positively associated with theory of mind (ToM) in typically developing children. As ToM is important to everyday social behaviours it is important to extend this research to examine whether there are similar sibling effects for children with autism spectrum disorders (ASD). Methods: Theory of mind and executive functioning abilities of 60 children clinically diagnosed with ASD were assessed with batteries of standard tasks. Verbal mental age (VMA) and severity of autism symptoms were also measured together with number of child‐aged siblings (1 to 12 years) and position in the sibling constellation. Results: Having older siblings was a significant negative predictor of ToM performance for children with ASD, even after controlling for age, VMA, executive function and autism symptom severity. A weaker ToM benefit of younger siblings was not statistically significant independently of control variables. Conclusions: In sharp contrast to findings for typically developing preschoolers, having an older sibling was a disadvantage for ToM development in children with ASD. Conceivably, older siblings may over‐compensate for their younger ASD siblings in social interactions, thereby limiting opportunities for social‐cognitive growth. Parental attitudes, family resources, cultural norms and access to educational interventions may also conceivably be relevant and clearly warrant further research.