�¶�֢����ͷΧ��������

目的探讨孤独症患儿头围发育情况。方法研究对象为中国医科大学附属盛京医院2009年9月至2011年6月确诊的孤独症患儿(孤独症组)156例,其中≤3岁74例,>3岁82例。同时选择健康儿童141名作为正常对照组,其中≤3岁58名,>3岁83名。分别测量两组头围并进行组间比较。结果孤独症组≤3岁患儿头围平均值与大头所占比例均大于正常对照组,两组差异有统计学意义(P<0.05)。孤独症组>3岁患儿头围平均值与大头所占比例与健康儿童基本相似,两组差异无统计学意义(P>0.05)。在除外大头患儿后,两组头围平均值比较差异无统计学意义(P>0.05)。结论孤独症患儿生后早期头围偏大,并且常伴大头,头围异常也是患儿重要的临床特征之一。了解孤独症头围发育可为孤独症的发病机制提供参考依据。     

Behavioural and cognitive phenotypes in idiopathic autism versus autism associated with fragile X syndrome

Background:  In order to better understand the underlying biological mechanism/s involved in autism, it is important to investigate the cognitive and behavioural phenotypes associated with idiopathic autism (autism without a known cause) and comorbid autism (autism associated with known genetic/biological disorders such as fragile X syndrome). Parental effects associated with each type of autism also serve to cast light on the biological underpinnings of autism.
Method:  Forty-nine participants with idiopathic autism (AD; Mean age: 11.16; SD: 6.08) and their parents (45 mothers; 34 fathers), and 48 participants with fragile X syndrome and co-morbid autism (FXS/AD; Mean age: 17.30; SD: 10.22) and their parents (32 mothers; 30 fathers) were administered the ADOS-G and the age-appropriate Wechsler test to ascertain autism and cognitive profiles respectively.
Results:  The AD and FXS/AD groups showed a similar profile on the ADOS domains, with slightly higher scores on the Communication domain in the FXS/AD group, after adjusting for full-scale IQ. Marked differences between the groups in their cognitive abilities were apparent, with the FXS/AD group showing significantly lower scores on all subtests except Comprehension. While no parental effects were found for the FXS/AD group, a paternal effect was apparent on the combined ADOS score for the AD group. Moreover, midparental effects were found in this group for full-scale IQ (FSIQ) and verbal IQ (VIQ). Analyses also revealed parental effects for the subtests of Similarities, Vocabulary, and Information with predominantly maternal effect, and Digit Span with predominantly paternal effect. Both parents contributed to the midparental effect for Processing Speed.
Conclusions:  The results, together with our previous findings, suggest that the postulated combination of susceptibility genes for autism may primarily involve cognitive rather than behavioural processes.     

The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders.

This study was designed to explore the behavioral phenotype of autism in a group of young children with fragile X syndrome (FXS). Twenty-four children with FXS, ages 21 to 48 months, were compared with two well-matched groups: 27 children with autism (AD) and 23 children with other developmental delays (DD), on two standardized autism instruments, as well as on measures of development and adaptive behavior. Two FXS subgroups emerged. One subgroup (n = 16) did not meet study criteria for autism. Their profiles on the autism instruments and the developmental instruments were virtually identical to the other DD group. The other FXS subgroup (n = 8, or 33% of the total FXS group) met study criteria for autism. Their profiles on the autism instruments were virtually identical to the group with autism. The finding of two FXS subgroups raises a hypothesis of additional genetic influences in the FXS autism group, warranting further genetic studies.     

Two boys with fragile x syndrome and hepatic tumors

Hepatic tumors are rare childhood neoplasms with uncertain etiology. We report the cooccurrence of hepatic tumors in 2 boys with fragile X syndrome, one with hepatoblastoma and another with desmoplastic nested spindle cell tumor of liver. The pathogenesis of fragile X syndrome involves silencing of the fragile X mental retardation 1 gene and consequent loss of FMR1 protein. We speculate regarding molecular pathways that might explain the cooccurrence of the 2 conditions. Further examination of a possible functional link between hepatic neoplasia and loss of FMRP is warranted.     

New height, weight and head circumference charts for British children with Williams syndrome

Aim

To produce a growth reference for British children with Williams syndrome.

Methods

The children and adults recruited into the study were all affiliated to the Williams Syndrome Foundation, a parent support group founded in 1979. They have all been shown to have a deletion of chromosome 7q11.23. One growth nurse (WRS) prospectively measured the weight, height and head circumference of individuals from 19 regions in Great Britain including Scotland, England and Wales. 169 children and adults were measured on up to four occasions between 2001 and 2004 (275 measurements). In addition, retrospective data were obtained from the hospital notes of 67 of these individuals (586 measurements). Centile curves were constructed using Cole''s LMS method.

Results

The centile charts differ from charts previously derived in the USA and Germany and provide more appropriate standards for the British population.

Conclusions

We propose that these charts be adopted for routine clinical practice as abnormalities in growth are an important feature of this syndrome.Short stature is a recognised feature of Williams syndrome. This syndrome was first described in 1961 as a triad of supravalvular aortic stenosis, learning difficulties and unusual facial features.¹ It was quickly recognised as being linked with infantile hypercalcaemia and in 1993, Ewart et al demonstrated the presence of a micro deletion on chromosome 7 (del 7q11.23) in all children with this syndrome.^2,3 To date, 28 genes have been detected within this region, including the elastin gene. The genes responsible for the developmental abnormalities and hypercalcaemia remain to be determined. A number of large cohort studies have described the presence of low birth weight, failure to thrive in infancy, short stature and precocious puberty.^4,5,6 In addition to congenital heart disease and infantile hypercalcaemia, children with Williams syndrome have been described as having hypothyroidism,⁷ growth hormone insufficiency^8,9 and coeliac disease.¹⁰ These diverse conditions make accurate assessment of growth an essential requirement of health surveillance.Morris et al produced growth charts for children with Williams syndrome in 1988 from retrospective, cross‐sectional data collected from American children attending either their clinic in Salt Lake City, Utah or a Williams Syndrome National Association meeting in 1986.¹¹ The mean adult heights of males and females were 167 and 157 cm, respectively. Pankau et al published retrospective data from a cohort of German children with Williams syndrome and in this population mean adult heights for males and females were 168 and 154 cm, respectively.¹² Both these studies were published before the gene deletion had been identified. Partsch et al subsequently documented a prospective study of a cohort of the same German children in 1999 but again the diagnosis was only confirmed genetically in 44% of cases.⁶ Mean adult heights for this cohort of males and females were 165 and 152 cm, respectively. The most recent British data were published by Martin et al in 1984 and in that cohort mean adult heights for males and females were 159 and 147 cm, respectively. Therefore, we identified the need for a contemporary British growth reference for children with genetically diagnosed Williams syndrome.⁴     

Age at which chest circumference overtakes head circumference in children

Maximum likelihood method with probit transformation was applied to estimate median age at which chest circumference (CC) overtook head circumference (HC) in 1206 children from rural areas of Ballabhgarh in Haryana and in 1505 children from a slum population in Delhi. The results showed that, in case of rural area, this phenomenon occurred at an average age of 31.36 months and in children from urban slums, at an average age of 28 months. In both the areas, this phenomenon occurred at an average age of 20 to 21 months in normally nourished children. In children with grade I malnutrition, this was delayed by about 10 months as compared to those with normal nutrition and in children with grade II or worse malnutrition, this was further delayed by another 9 to 13 months on an average as compared to those with grade I malnutrition. These differences were found to be statistically significant (p<0.001). These results indicate that the longer the delay in CC overtaking HC, the chance is higher for the children to be severely malnourished. Considering the relative ease of measuring head and chest circumferences, this parameter (age of CC crossing HC) could be useful in assessing the long term trend in the improvement of childhood nutrition in developing countries.     

New height, weight and head circumference charts for British children with Williams syndrome.

AIM: To produce a growth reference for British children with Williams syndrome. METHODS: The children and adults recruited into the study were all affiliated to the Williams Syndrome Foundation, a parent support group founded in 1979. They have all been shown to have a deletion of chromosome 7q11.23. One growth nurse (WRS) prospectively measured the weight, height and head circumference of individuals from 19 regions in Great Britain including Scotland, England and Wales. 169 children and adults were measured on up to four occasions between 2001 and 2004 (275 measurements). In addition, retrospective data were obtained from the hospital notes of 67 of these individuals (586 measurements). Centile curves were constructed using Cole's LMS method. RESULTS: The centile charts differ from charts previously derived in the USA and Germany and provide more appropriate standards for the British population. CONCLUSIONS: We propose that these charts be adopted for routine clinical practice as abnormalities in growth are an important feature of this syndrome.     

Health supervision for children with fragile X syndrome

Fragile X syndrome (an FMR1-related disorder) is the most commonly inherited form of mental retardation. Early physical recognition is difficult, so boys with developmental delay should be strongly considered for molecular testing. The characteristic adult phenotype usually does not develop until the second decade of life. Girls can also be affected with developmental delay. Because multiple family members can be affected with mental retardation and other conditions (premature ovarian failure and tremor/ataxia), family history information is of critical importance for the diagnosis and management of affected patients and their families. This report summarizes issues for fragile X syndrome regarding clinical diagnosis, laboratory diagnosis, genetic counseling, related health problems, behavior management, and age-related health supervision guidelines. The diagnosis of fragile X syndrome not only involves the affected children but also potentially has significant health consequences for multiple generations in each family.     

Palpebral fissure length in black and Hispanic children: correlation with head circumference

Palpebral fissure length and head circumference were measured in 170 black and 170 Hispanic normal children aged 1 month to 16 years. Eye measurement values were compared with those for white children. It was found that black children have longer palpebral fissures than whites and in certain age groups, than Hispanics. A statistically significant correlation between palpebral fissure length and head circumference was established in black children.     

Social behavior and cortisol reactivity in children with fragile X syndrome

OBJECTIVE: To examine the association between limbic-hypothalamic-pituitary-adrenal (L-HPA) axis reactivity and social behavior in children with fragile X syndrome (FXS). METHOD: Salivary cortisol changes and concurrent anxiety-related behaviors consistent with the behavioral phenotype of FXS were measured in 90 children with the fragile X full mutation and their 90 unaffected siblings during a social challenge task in the home. RESULTS: Boys and girls with FXS demonstrated more gaze aversion, task avoidance, behavioral signs of distress, and poorer vocal quality than the unaffected siblings. Multiple regression analyses showed that after accounting for effects of IQ, gender, age, quality of the home environment, and basal cortisol level, cortisol reactivity to the task was significantly associated with social gaze in children with FXS. The most gaze-aversive children with FXS had cortisol reductions, whereas those with more eye contact demonstrated the most cortisol reactivity. Unaffected siblings demonstrated an opposite pattern in which less eye contact was associated with increased cortisol reactivity. CONCLUSIONS: Results of the study suggest a unique relation between abnormal gaze behavior and L-HPA mediated stress reactivity in FXS.     

Growth of head circumference of Malaysian infants and pre-school children

126 Malaysian children, 65 boys and 61 girls from higher income families were followed-up regularly from birth to six years of age in the University Hospital, Kuala Lumpur. The study confirms the observations of previous studies that growth velocity of head circumference is most rapid during the first few months of infancy and then decreases so that by the fifth year of life the increment is minimal. It also confirms the fact that boys have bigger head circumferences than girls. The paper also presents the head circumference distance and velocity percentile charts which can be used to monitor the head circumference of Malaysian children.     

Factors associated with parenting stress in mothers of children with fragile X syndrome

Whereas previous research has demonstrated elevated levels of parenting stress in parents of children with general developmental disability, there has been little investigation of stress in parents of children specifically affected by the common neurogenetic disorder fragile X syndrome (FraX). This study elucidates stress profiles in mothers of children with FraX and delineates the contribution of child characteristics, home environment, and maternal psychological functioning to specific dimensions of parental stress. Data on child, home, and family characteristics were collected from 75 families with a child affected by FraX. These characteristics were entered into multiple regression analyses with a domain or subscale of the Parenting Stress Index as the dependent variable in each analysis. The results demonstrated that aspects of child behavior, family cohesion, household income, and maternal psychopathology differentially correlate with specific dimensions of parenting stress. Determining the relative contribution of factors associated with stress will assist in the development of interventions to improve parental well-being in mothers of children with FraX.     

经颅多普勒探测深度与儿童头围的相关性研究

目的　研究经颅多普勒 (TCD)探测深度与儿童头围的相关性。方法　采用TCD对 5 88名健康儿童进行检测 ,同时测量头围 ,并观察两者间相关性。结果　各血管TCD探测深度均值与不同年龄组有显著差异 (P<0 .0 1) ,随头围增加而变。结论　各血管TCD探测深度均值与各年龄组儿童头围均值比较具有相关性和规律性 ,可供临床参考     

Tin ear syndrome: rotational acceleration in pediatric head injuries

An array of signs pathognomonic of child abuse is described for three young children. The eponym "tin ear syndrome" describes distinct unilateral ear bruising, radiographic evidence of ipisilateral cerebral edema with obliteration of the basilar cisterns, and hemorrhagic retinopathy. Rotational acceleration produced by blunt trauma to the ear is shown to be a necessary and sufficient cause for the production of this syndrome. An approximate value of 4,670 radians/s2 produced by a force of 309 to 347 N (70 to 80 lb) results in shear stress and tearing of the subdural veins, loss of cortical vasomotor tone, cerebral hyperemia, herniation, and death. Past history and environmental circumstances implicated child abuse in every case.     

Difference in age at regression in children with autism with and without Down syndrome

OBJECTIVE: Autism occurs more frequently in individuals with Down syndrome than it does in the general population. Among children with autism and Down syndrome, regression is reported to occur in up to 50%. The aim of this study was to characterize and compare regression in children with autism with and without Down syndrome. METHODS: In this case-control study, children with Down syndrome and autism characterized by a history of developmental regression (n = 12) were compared to children with autism with regression who did not have Down syndrome, matched for chronologic age and gender. Comparisons were made on age at acquisition of language and age at loss of language and other skills as measured by the Autism Diagnostic Interview-Revised (ADI-R). RESULTS: The mean age at acquisition of meaningful use of single words was 40.6 months (SD = 38.0) in children with Down syndrome and autism compared to 14.9 months (SD = 8.5) in children with autism without Down syndrome (p = .005). The mean age at language loss in children with autism with Down syndrome was 61.8 months (SD = 22.9) compared to 19.7 months (SD = 5.8) for those with autism without Down syndrome (p = .01). The mean age at other skill loss was 46.2 months (SD = 19.1) and 19.5 months (SD = 5.6), respectively (p = .006). CONCLUSIONS: When regression occurs in children with autism and Down syndrome it is, on average, much later than is typically seen in children with autism without Down syndrome.     

Growth references for height,weight, and head circumference for Argentine children with achondroplasia

In order to prepare growth references for height, weight, and head circumference for Argentine children with Achondroplasia, 228 children (114 boys) aged 0–18 years attending the Growth Clinic at Hospital Garrahan were measured between 1992 and 2009. Centiles were calculated by LMS, a method for summarizing growth data which adjusts for skewness. Curves for centiles are obtained using the formula: C_100a (t) = M(t)( 1 + L(t)S(t)Z_a )^1/L(t) {{\hbox{C}}_{{100}}}_\alpha (t){ = }M(t){\left( {{1 + }L(t)S(t){Z_\alpha }} \right)^{{1/}L(t)}} , where Z _α is the normal equivalent deviate for tail area α; C100α is the weight or height centile corresponding to Z _α , t is age in years, and L(t) is (skewness)(t), M(t) is median, S (t) is coefficient variation and C_100α (t) indicates the corresponding values of each curve at age t. Boys and girls centiles for height were similar to USA references in infancy and childhood but lower than that references at adolescence. Final height was 1.7 and 5.1 cm below USA achondroplasia references in girls and boys, respectively. Head circumference centiles were, at all ages, lower than USA references in both genders. Countries need national references for clinical growth assessment of their local population. Likewise, specific local growth references for children with some genetic conditions (such us achondroplasia) are valuable tools for detecting additional conditions affecting growth, for estimating final height and for evaluating the impact of growth-promoting treatments. Conclusion: references presented here can also be used in other countries with similar ethnographics characteristics.