Clinical analysis of 103 children with Angelman syndrome / 中华实用儿科临床杂志

Objective@#To investigate the correlation between clinical phenotype, electroencephalogram (EEG) characteristics and genotype in children with Angelman syndrome(AS).@*Methods@#A total of 103 children with AS at Department of Neurology, Children′s Hospital of Fudan University from June 2017 to June 2018, were included in this study.The information of clinical characteristics, EEG manifestations, genotypes as well as the epileptic outcome were collected retrospectively.The correlations between clinical phenotype, genotype, and epileptic outcome were evaluated.@*Results@#(1) Of the 103 cases, 48 were male (46.6%) and 55 were female (53.4%). (2) Genotypes on AS critical region were maternal chromosome 15q11.2-q13 [86.4%(89/103 cases)], paternal uniparental disomy [3.9%(4/103 cases)], imprinting defects [1.9%(2/103 cases)], and mutations in the maternal copy of UBE3A [7.8%(8/103 cases)]. (3) Apparent happy demeanor or smile and general developmental delay were observed in all AS children.Dyskinesia accounted for 98.1% (101/103 cases), followed by oral movement or suck disorders [97.1%(100/103 cases)] and abnormal posture [67.0%(69/103 cases)]. The proportion of acquired small head circumfe-rence or microcephaly, flat occiput or occipital groove and wide-spaced teeth were 61.2%(63/103 cases), 85.4%(88/103 cases) and 44.7%(46/103 cases), respectively.(4) Behavioral problems like fascination with water, sleep problems and feeding difficulties were found in 86.4%(89/103 cases), 89.3%(92/103 cases) and 85.5%(88/103 cases) of the children, respectively.Sleep disorders [94.4%(84/89 cases) vs.57.1%(8/14 cases)] and feeding difficulties [93.3%(83/89 cases) vs.35.7%(5/14 cases)] were more frequently seen in children with maternal absence group, compared those with no absence, and the differences were statistically significant (all P<0.05). (5) Epilepsy was present in 77.7% (80/103 cases) of children with onset age varying from 8 to 72 months and 80.8% (59/73 cases) were developing seizures prior to 3 years old.Children with maternal absence showed more multiple seizure types than those with no absence[41.7%(32/68 cases) vs.0(0 case)], and the difference was statistically significant(P<0.05). Children with well-controlled epilepsy had more atonic seizure, compared with those with poorly controlled seizure [48.3%(14/29 cases) vs.18.5%(4/27 cases)], and the difference was statistically significant(P<0.05).@*Conclusions@#Sleep disorders, feeding difficulties in infancy and multiple seizure types are more commonly seen in AS children with maternal absence.Atonic seizure is easier to be controlled over other types of seizures.

Clinical and genetic characteristics of dopamine-responsive dystonia in 3 children / 临床儿科杂志

Objective To explore the clinical and genetic characteristics, treatment. and prognosis of dopamine responsive dystonia (DRD) in children. Method The clinical data of DRD in 3 children admitted to neurology clinic from January 2014 to August 2017 were retrospectively analyzed. Results Two male children, 20-month-old and 2-year-old respectively, and one 4-year-old female child suffered from hypotonia after birth or one year after birth. Genetic testing found that case 1 had heterozygous mutations in tyrosine hydroxylase (TH) gene, C. G943A (p. G315S) from his mother (PMID 20056467) and C. G739A (p. G247S) from his father (PMID 18554280, 24753243) . Case 2 had a heterozygous mutation, c.454-2A＞G, in GCH-1 gene, which was identified to be from his father (PMID 10732814) . Case 3 had two mutations in TH1 gene, c.580+2T>C from her mother (novel mutation) and c.698G>A (p.R233H) from her father (PMID 9703425) . The mother of case 1 was pregnant again. Prenatal examination revealed that the fetus only carried c.G943A (p.G315S) from the mother. Three patients were treated with a small dose of madopar after diagnosis, and gradually increased to obtain the best effect. After 6-month follow-up, cases 1 and 2 recovered to normal, and case 3 showed significant improvement in dystonia, but left foot deformity. Conclusion DRD can start in infants and young children with atypical early symptoms. Genetic testing can make a definite diagnosis. The family that has proband should undergo prenatal examination.

Clinical analysis of 103 children with Angelman syndrome / 中华实用儿科临床杂志

Objective To investigate the correlation between clinical phenotype,electroencephalogram(EEG) characteristics and genotype in children with Angelman syndrome(AS). Methods A total of 103 children with AS at Department of Neurology,Children′s Hospital of Fudan University from June 2017 to June 2018,were included in this study. The information of clinical characteristics,EEG manifestations,genotypes as well as the epileptic outcome were collected retrospectively. The correlations between clinical phenotype,genotype,and epileptic outcome were evaluated. Results (1)Of the 103 cases,48 were male(46. 6﹪)and 55 were female(53. 4﹪).(2)Genotypes on AS criti﹣cal region were maternal chromosome 15q11. 2－q13[86. 4﹪(89/103 cases)],paternal uniparental disomy[3. 9﹪(4/103 cases)],imprinting defects[1. 9﹪(2/103 cases)],and mutations in the maternal copy of UBE3A[7. 8﹪(8/103 cases)].(3)Apparent happy demeanor or smile and general developmental delay were observed in all AS children. Dyskinesia accounted for 98. 1﹪(101/103 cases),followed by oral movement or suck disorders[97. 1﹪(100/103 cases)]and abnormal posture[67. 0﹪(69/103 cases)]. The proportion of acquired small head circumfe﹣rence or microcephaly,flat occiput or occipital groove and wide－spaced teeth were 61. 2﹪(63/103 cases),85. 4﹪(88/103 cases)and 44. 7﹪(46/103 cases),respectively.(4)Behavioral problems like fascination with water,sleep problems and feeding difficulties were found in 86. 4﹪(89/103 cases),89. 3﹪(92/103 cases)and 85. 5﹪(88/103 cases)of the children,respectively. Sleep disorders[94. 4﹪(84/89 cases)νs. 57. 1﹪(8/14 cases)]and feeding difficulties[93. 3﹪(83/89 cases)νs. 35. 7﹪(5/14 cases)]were more frequently seen in children with maternal ab﹣sence group,compared those with no absence,and the differences were statistically significant(all P＜0. 05).(5)Epi﹣lepsy was present in 77. 7﹪(80/103 cases)of children with onset age varying from 8 to 72 months and 80. 8﹪(59/73 cases)were developing seizures prior to 3 years old. Children with maternal absence showed more multiple seizure types than those with no absence[41. 7﹪(32/68 cases)νs. 0(0 case)],and the difference was statistically significant (P＜0. 05). Children with well－controlled epilepsy had more atonic seizure,compared with those with poorly con﹣ trolled seizure[48. 3﹪(14/29 cases)νs. 18. 5﹪(4/27 cases)],and the difference was statistically significant( P＜0. 05). Conclusions Sleep disorders,feeding difficulties in infancy and multiple seizure types are more commonly seen in AS children with maternal absence. Atonic seizure is easier to be controlled over other types of seizures.

Research progress of association between air pollution and autism spectrum disorder / 中华实用儿科临床杂志

Particulate matter (PM) researches have long been focused on cardiovascular and puhnonary systems,however,several increasing evidences have showed that PM may be deleterious to human brain development as well.Recently,some studies showed that PM had strongly associated with autism spectrum disorder (ASD) especially PM2.5.Now,the epidemiological and clinical studies on the relationship between ASD and exposure to PM were conducted,expect to be helpful for future ASD etiology research,furthermore to formulate appropriate public policy.

Performance of the Autism Spectrum Rating Scale and Social Responsiveness Scale in Identifying Autism Spectrum Disorder Among Cases of Intellectual Disability / 神经科学通报·英文版

The Autism Spectrum Rating Scale (ASRS) and the Social Responsiveness Scale (SRS) have been widely used for screening autism spectrum disorder (ASD) in the general population during epidemiological studies, but studies of individuals with intellectual disability (ID) are quite limited. Therefore, we recruited the parents/caregivers of 204 ASD cases, 71 ID cases aged 6-18 years from special education schools, and 402 typically developing (TD) children in the same age span from a community-based population to complete the ASRS and SRS. The results showed that the ID group scored significantly lower on total and subscale scores than the ASD group on both scales (P < 0.05) but higher than TD children (P < 0.05). Receiver operating characteristic analyses demonstrated a similar fair performance in discriminating ASD from ID with the ASRS (area under the curve (AUC) = 0.709, sensitivity = 77.0%, specificity = 52.1%, positive predictive value (PPV) = 82.2%) and the SRS (AUC = 0.742, sensitivity = 59.8%, specificity = 77.5%, PPV = 88.4%). The results showed that individuals with ID had clear autistic traits and discriminating ASD from ID cases was quite challenging, while assessment tools such as ASRS and SRS, help to some degree.

Analysis of clinical characteristics and factors associated with short term outcomes in early term neonates / 中华儿科杂志

Objective@#To investigate the clinical characteristics of early term and full term neonates, and analyze the risk factors associated with short term outcomes in early term neonates.@*Method@#Neonates with birth weight (BW) ≥2 500 g from year 2013 were analyzed retrospectively based on American Congress of Obstericians & Gynecologists (ACOG) latest definition of term infants. According to inclusion and exclusion criteria, early term (gestational age 37-38 weeks) and full term(gestational age 39-40 weeks) neonates were included, whose morbidity constituent proportion was analyzed by χ2 test or Fisher accuracy test or t test or Wilcoxon test. Risk factors associated with short term outcomes in early term population were analyzed by Logistic regression analysis.@*Result@#There were 3 002 discharged term infants being investigated, among whom 1 303 cases were included(768 males and 535 females), and 37, 38, 39 and 40 weeks′ gestational age newborns were 160, 324, 450 and 369 respectively. Compared with full term neonates(n=819), early term neonates (n=484) had longer length of hospital stay (LOS)(6.0(5.0, 9.0) vs. 6.0(4.0, 8.0), Z=2.830, P=0.005), higher usage rate of intravenous antibiotics(86.4%(418/484) vs. 80.1%(656/819), χ2=8.009, P=0.005), higher assisted ventilation rate(9.5%(46/484) vs. 2.9%(24/819), χ2=25.528, P<0.01), higher pulmonary surfactant administration rate(4.3%(21/484) vs. 1.1%(9/819), χ2=14.006, P<0.01), as well as higher hypoglycemia incidence(3.9%(19/484) vs. 1.2%(10/819), χ2=10.226, P=0.001). There were no statistically significant differences in 1 min Apgar score (9(9, 10)vs. 9(9, 10), Z=0.860, P=0.390), 5 min Apgar score (10(9, 10) vs. 10(9, 10), Z=0.810, P=0.418), white blood cell count (15 (11, 21) ×109 /L vs.15 (11, 22) ×109 /L, Z=0.880, P=0.379), hemoglobin count(180 (159, 205) vs. 182 (160, 204) g/L, Z=0.560, P=0.576), or platelet count(303(234, 372) ×109/L vs. 301(237, 391) ×109/L, Z=0.550, P=0.584). BW between 2 500 g and 2 999 g(OR 1.69, 95% CI: 1.10-2.62, χ2 =5.614, P=0.018), wet lung(OR=2.61, 95% CI: 1.61-4.24, χ2=15.023, P=0.000)and pneumonia(OR 1.88, 95% CI: 1.14-3.08, χ2=6.192, P=0.013) were risk factors in early term neonates′ short term adverse outcomes.@*Conclusion@#Early term newborns are still at their "immature" state, and respiratory disorders are major risk factors associated with short term outcomes. Hence, early delivery during 37-38 weeks should be avoided as possible as we can.

Progressin in evidence-based study of cerebral white matter lesions in preterm neonates / 临床儿科杂志

Brain injury of premature infant is a hot topic in the neonatal clinical study. Early diagnosis and intervention can improve the prognosis of premature infants. Although there are some interventions for brain injury of premature infants, most of them do not have evidence-based study to support the clinical application. Antenatal application of magnesium sulfate for pregnant women and application of erythropoietin for preterm infants may be the most promising interventions. Avoiding prematurity and brain damage is the key interventions for brain damage of premature infants.