父母离异子女精神卫生问题调查

目的 :了解父母离异后单亲家庭子女的精神卫生状况 ,探讨其预防措施。方法 :选择天津市和平区中小学中的 12个班级 486名学生进行调查。生活在单亲家庭中的青少年 49人 ,将其组成研究组 ,采用 1∶1配对的方法组成对照组。研究组和对照组使用自制的一般情况调查表、修订的艾森克个性问卷(EPQ)、自尊量表 (SES)、Achenbach氏儿童行为量表和自制的学习成绩评定表进行评定。结果 :研究组和对照组存在各种精神卫生问题分别占 98%及 14 3 % (P <0 0 1)。两组比较单亲组性格内向 (分别为 2 8 6% ,12 2 % )、外向 ( 3 8 8% ,18 4% ) ;自尊心强 ( 2 6 5 % ,14 3 % )、自尊心差 ( 2 6 5 % ,4 1% ) ;早熟( 4 0 8% ,6 1% )、冷漠 ( 4 2 9% ,2 1% )、交往不良 ( 3 4 7% ,4 1% )、敌意 ( 12 2 %、 2 1% )和违纪行为( 2 8 6% ,2 1% ) ,均显著高于双亲家庭子女组。结论 :单亲家庭子女存在较多的精神卫生问题 ,应有针对性的进行干预。     

Regulation of cognitive activity and early communication development in young autistic, mentally retarded, and young normal children

Based on the Piagetian framework, this study examined regulation of cognitive activity and developmental communication profiles and their interrelationship in groups of autistic, mentally retarded, and normal children of comparable overall, verbal, and oculo-manual developmental ages (from 6 to 24 months). Regulation of activity was assessed with both an object permanence test and an original behavior grid, and development of communication skills with the Guidetti-Tourrette scales (French adaptation of the Seibert-Hogan scales). The results showed evidence of certain types of dysregulation of cognitive activity and a general delay in communication ability in autistic children compared to the other two groups. Moreover, although the intensity of some of these disorders decreased in relation to the developmental levels of social interaction and joint attention in normal children, they were related to both high and low levels of development of social interaction only in autistic children. These findings raise the hypothesis of a relationship between a disorder of disengaging from an activity and developmental levels of social interaction noted at two transitory periods of early development (12 and 24 months) only in children with autism. Developmental and neuropsychological interpretations of this particular pattern are proposed.     

Wiedemann‐Steiner syndrome in two patients from Portugal

Wiedemann‐Steiner syndrome (WSS) is a rare genetic disorder characterized by growth retardation, facial dysmorphism, hypertrichosis cubiti and neurodevelopment delay. It is caused by pathogenic variants in the KMT2A gene. This report describes two unrelated Portuguese patients, age 11 and 17 years, with a phenotype concordant with WSS and clinical and molecular diagnosis of WSS by the identification of two novel frameshift variants in the KMT2A gene. This work also highlights the presence of certain clinical features in patients with growth retardation and development delay and should draw attention to the diagnosis of WSS, when hirsutism, particularly hypertrichosis cubiti is present.     

Neuropsychological functions,sleep, and mental health in adults with Klinefelter syndrome

A few studies have examined neuropsychological functions, sleep, and mental health combined in Klinefelter syndrome (KS; 47,XXY). We investigated neuropsychological functions with standard tests, sleep with actigraphy, and self‐reported mental health in 30 men with KS (Mean age = 36.7 years) compared to 21 controls (Mean age = 36.8 years). Men with KS scored significantly lower on mental speed, attention span, working memory, inhibition, and set‐shifting tests, as well as overall IQ (mean effect size difference Cohen's d = 0.79). Men with KS had significantly longer night wakes, with no differences in other sleep variables (mean d = 0.34). Men with KS reported poorer mental health than controls (mean d = 1.16). Regression analyses showed neuropsychological functions explained variance in some sleep domains for men with KS but not for controls. Neuropsychological functions explained variance in some mental health domains for controls. For men with KS, however, verbal IQ was the only significant predictor of mental health. Altogether, men with KS display problems in neuropsychological functions and mental health but do not appear different from controls on most sleep parameters. Our findings indicate that relations between neuropsychological functions, sleep, and mental health differ between men with KS and controls.     

Interstitial deletion of band q12 of chromosome 5

A six-months-old girl is presented with psychomotor retardation and multiple congenital malformations. The karyotype done on peripheral blood lymphocytes and skin fibroblasts was found to be 46,XX del(5)(411q13). The parents are consanguineous. Their karyotypes were normal.
The genes for Arylsulphatase B and Hexosaminidase B are not located in band 5q12.     

汉区少数民族学生文化疏离感研究

目的:提出文化疏离感的操作性定义和初步的理论构想,为我国少数民族的文化认同和文化适应,以及少数民族青少年的教育培养提供比较重要的参考资料,为疏离感理论的丰富起到一定积极作用.方法:自编<汉区少数民族学生文化疏离感量表>,进行信效度考察以后对678名汉区少数民族学生进行调查.结果:1.文化疏离感及其四个子维度在地区主效应上均表现出显著差异,在年龄主效应上差异不显著;文化分离感和不和谐感在性别主效应上差异显著.2.文化疏离感及其两个子维度(文化孤立感和文化分离感)在年龄和地区,以及在年龄、地区和性别的交互作用上均表现出显著差异.3.影响文化疏离感及其文化孤立感、文化分离感、被控感三个维度的主要变量是学生小学前后居住地区的改变,而影响不和谐感的主要变量是性别.结论:小学前后居住地的改变会影响少数民族学生文化疏离感.     

Congenital contractures,ectodermal dysplasia,cleft lip/palate,and developmental impairment: A distinct syndrome

Brother were affected with severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. High resolution prometaphase chromosomes were normal. Molecular studies of DNA markers, closely flanking the X-linked hypohidrotic ectodermal dysplasia locus, did not show evidence of a submicroscopic deletion from the Xq12-q13 region. The parents and a normal sister exhibited none of these findings. This constellation of anomalies appears to represent a unique AR or XLR syndrome. © 1993 Wiley-Liss, Inc.     

Trisomy 6qter

A previously reported patient with trisomy for the distal part of 6q was shown by R-banding to be trisomic for 6q26qter, due to a t(6;22)(q26;p12) mat. Altogether nine patients with 6qter trisomy have been reported. The main features of the 6qter trisomy syndrome are: severe mental and growth retardation; acrocephaly and brachycephaly; a carp-shaped mouth; micrognathia; a very short neck with unusual anterior webbing; joint contractures; the absence of severe inner organ malformations; and survival into adulthood.