Abstract
The aim of our study was to subcategorize Autistic Spectrum Disorders (ASD) using a multidisciplinary approach. Sixty four autistic patients (mean age 9.4±5.6 years) were entered into a cluster analysis. The clustering analysis was based on MRI data. The clusters obtained did not differ significantly in the overall severity of autistic symptomatology as measured by the total score on the Childhood Autism Rating Scale (CARS). The clusters could be characterized as showing significant differences: Cluster 1: showed the largest sizes of the genu and splenium of the corpus callosum (CC), the lowest pregnancy order and the lowest frequency of facial dysmorphic features. Cluster 2: showed the largest sizes of the amygdala and hippocampus (HPC), the least abnormal visual response on the CARS, the lowest frequency of epilepsy and the least frequent abnormal psychomotor development during the first year of life. Cluster 3: showed the largest sizes of the caput of the nucleus caudatus (NC), the smallest sizes of the HPC and facial dysmorphic features were always present. Cluster 4: showed the smallest sizes of the genu and splenium of the CC, as well as the amygdala, and caput of the NC, the most abnormal visual response on the CARS, the highest frequency of epilepsy, the highest pregnancy order, abnormal psychomotor development during the first year of life was always present and facial dysmorphic features were always present. This multidisciplinary approach seems to be a promising method for subtyping autism. 相似文献
The authors conducted an 8-year prospective non-randomised study to determine whether dexrazoxane (ICRF-187) would reduce late anthracycline-induced cardiotoxicity in patients treated in childhood for haematological malignancy. The authors examined prospectively 75 patients (40 male/35 female) aged 2–17 years (median 6.5 years) at the time of diagnosis. The cardioprotection was given to 53 patients (26 male/17 female) and the standard protocol was used in 22 patients (14 male/8 female). The prospective echocardiographic evaluation was done before and after the chemotherapy and every year during the follow-up period. Dynamic stress echocardiography (DSE) was assessed in the final year. The clinical cardiotoxicity was not diagnosed. Higher cumulative doses of anthracycline were given in the dexrazoxane group (234±58 mg/m2, median 240 mg/m2 versus 203±86 mg/m2, median 210 mg/m2, P <0.04) and a significantly higher percentage of patients received cumulative doses >240 mg/m2 of anthracycline ( P <0.05). During the follow-up period, the fractional shortening (FS) declined in the no-dexrazoxane group only in the 8th year and was significantly lower compared to the dexrazoxane group ( P <0.05). The pathological decrease in FS was present in 24% of patients; 41% in the no-dexrazoxane and 17% in the dexrazoxane groups, respectively ( P <0.05). DSE demonstrated lower rest EF and cardiac index (CI) in the no-dexrazoxane group ( P <0.05); however, neither the response of EF and CI to the stress echocardiography nor the exercise tolerance significantly differed between sub-groups. A higher number of patients in the dexrazoxane group had very good exercise tolerance (ET) >3 Watts/kg ( P <0.05) and a lower number responded with a decreased ET <2 Watts/kg ( P <0.05) compared to the no-dexrazoxane group. Conclusion:Dexrazoxane seems to reduce the risk of late subclinical cardiotoxicity. Dexrazoxane-treated patients revealed better exercise tolerance; however the haemodynamic response to the stress was no different in both sub-groups. 相似文献
Inherited antithrombin (AT) deficiency is a rare autosomal dominant disorder, caused by mutations in the AT gene (SERPINC1). Considering that the genotype phenotype relationship in AT deficiency patients remains unclear, especially in pediatric patients, the aim of our study was to evaluate genotype phenotype correlation in a Serbian pediatric population. A retrospective cohort study included 19 children younger than 18 years, from 15 Serbian families, with newly diagnosed AT deficiency. In 21% of the recruited families, mutations affecting exon 4, 5, and 6 of the SERPINC1 gene that causes type I AT deficiency were detected. In the remaining families, the mutation in exon 2 causing type II HBS (AT Budapest 3) was found. Thrombosis events were observed in 1 (33%) of those with type I, 11 (85%) of those with AT Budapest 3 in the homozygous respectively, and 1(33%) in the heterozygous form. Recurrent thrombosis was observed only in AT Budapest 3 in the homozygous form, in 27% during initial treatment of the first thrombotic event. Abdominal venous thrombosis and arterial ischemic stroke, observed in almost half of the children from the group with AT Budapest 3 in the homozygous form, were unprovoked in all cases.
Conclusion: Type II HBS (AT Budapest 3) in the homozygous form is a strong risk factor for arterial and venous thrombosis in pediatric patients.
What is Known:
• Inherited AT deficiency is a rare autosomal dominant disorder, caused by mutations in the SERPINC1gene.
• The genotype phenotype correlation in AT deficiency patients remains unclear, especially in pediatric patients.
What is New:
• The genetic results for our paediatric population predominantly showed the presence of a single specific mutation in exon 2, that causes type II HBS deficiency (AT Budapest 3).
• In this group thrombosis mostly occurred as unprovoked, in almost half of them as abdominal thrombosis or stroke with high incidence of recurrent thrombosis, in 27% during initial treatment.
The purpose of the study was to develop a scale measuring intentions of children without disabilities to play with a hypothetical
peer with a physical disability in general physical education using the Theory of Planned Behavior (Ajzen Organizational Behavior
and Human Decision Processes 50:179–211, 1991) and to provide evidence of reliability, content validity, and initial factor structure. A background questionnaire and a
pilot version of the Children’s Intentions to Play with Peers with Disabilities in Middle-School Physical Education (CIPPD-MPE)
were administered to a convenience sample of 250 middle school students. Content validity of CIPPD-MPE was established by
seven content experts. Findings revealed four factors (behavioral beliefs, control beliefs, behavioral intention, and normative
beliefs), which explained 58% of the variance. Internal consistency ranged between .65 and .92. All factors were significantly
correlated with intention, indicating the potential of CIPPD-MPE to predict intention of children without disabilities to
play with a hypothetical peer with a physical disability in GPE. 相似文献
OVERVIEW: Despite an epidemic of intimate-partner violence against women, and general agreement that women should be screened for it, few assessment and intervention protocols have been evaluated in controlled studies. To test a telephone intervention intended to increase the "safety-promoting behavior" of abused women, 75 women received six telephone calls over a period of eight weeks in which safety-promoting behaviors were discussed. A control group of 75 women received usual care. Women in both groups received follow-up calls to assess safety-promoting behaviors at three, six, 12, and 18 months after intake. Analysis showed that the women in the intervention group practiced significantly (P < 0.01) more safety-promoting behaviors than women in the control group at each assessment. On average, women in the intervention group practiced almost two more safety-promoting behaviors than they had at time of intake and nearly two more than women in the control group; the additional behaviors were practiced for 18 months. This nursing intervention requires only 54 minutes to complete (six nine-minute telephone calls) and can be integrated into any health care setting. Because less than one hour of professional nursing time is involved, the cost of the intervention is minimal. Future research should determine whether the adoption of safety-promoting behaviors by abused women averts trauma and its subsequent health care costs. 相似文献