脆性X综合征(fragile X syndrome,FXS)是FMR1基因CGG异常重复扩增导致的疾病。本文报告1对经基因检测诊断为FXS的兄弟,2例患者分别为15岁和14岁,均存在语言障碍、智力障碍、注意力缺陷障碍、孤独症谱系障碍和FXS特征性面容等临床表现,...脆性X综合征(fragile X syndrome,FXS)是FMR1基因CGG异常重复扩增导致的疾病。本文报告1对经基因检测诊断为FXS的兄弟,2例患者分别为15岁和14岁,均存在语言障碍、智力障碍、注意力缺陷障碍、孤独症谱系障碍和FXS特征性面容等临床表现,其中先证者伴有罕见的晚发性癫痫发作,经左乙拉西坦治疗效果良好,而其弟弟经反复随访未见脑电图异常。该对病例提示FXS临床表型具有多样性和异质性。展开更多
Aim: To explore possible patterns of comorbidity in children with severe developmental language disorders (DLD). Methods: A retrospective investigation of the clinical records of 28 children relating to oral motor and...Aim: To explore possible patterns of comorbidity in children with severe developmental language disorders (DLD). Methods: A retrospective investigation of the clinical records of 28 children relating to oral motor and language problems, psychological profiles, medical history and EEG findings. Results: 36% of all the children had pure expressive language problems, 64% had combined expressive-receptive language problems and 57% had additional oralmotor problems. Girls predominated in expressive-receptive problems,while boys predominated in oral motor problems. Children with expressive-receptive disorders were over-represented at the lower end of normal full-scale IQ (p = 0.015). Lower verbal than non-verbal IQ levels were almost as common as equal levels, but a lower non-verbal IQ than verbal IQ was also found. Pre/perinatal problems were found in 21% , and heredity for developmental language problems or dyslexia in 39% . There was a higher proportion of attention and motor problems, EEG abnormalities, and epileptic syndromes than in the general population (p < 0.001). Conclusion: In severe DLD, both pure expressive and mixed expressive-receptive problems are found, and oral motor problems are common. Gender differences regarding symptoms are present. Receptive language ability is associated with the full-scale IQ level. A high proportion of EEG abnormalities and epilepsy is found. There is a complex pattern of comorbidity between speech-language symptoms, psychological characteristics, heredity and EEG findings.展开更多
Background: Chronic lung disease and severe intraventricular hemorrhage or periventricular leukomalacia in premature infants are associated with abnormal neurodevelopmental outcomes. In a previous randomized, controll...Background: Chronic lung disease and severe intraventricular hemorrhage or periventricular leukomalacia in premature infants are associated with abnormal neurodevelopmental outcomes. In a previous randomized, controlled, single-center trial of premature infants with the respiratory distress syndrome, inhaled nitric oxide decreased the risk of death or chronic lung disease as well as severe intraventricular hemorrhage and periventricular leukomalacia. We hypothesized that infants treated with inhaled nitric oxide would also have improved neurodevelopmental outcomes. Methods: We conducted a prospective, longitudinal follow-up study of premature infants who had received inhaled nitric oxide or placebo to investigate neurodevelopmental outcomes at two years of corrected age. Neurologic examination, neurodevelopmental assessment, and anthropometric measurements were made by examiners who were unaware of the children’s original treatment assignment. Results: A total of 138 children (82 percent of survivors) were evaluated. In the group given inhaled nitric oxide, 17 of 70 children (24 percent) had abnormal neurodevelopmental outcomes, defined as either disability (cerebral palsy, bilateral blindness, or bilateral hearing loss) or delay (no disability, but one score of less than 70 on the Bayley Scales of Infant Development II), as compared with 31 of 68 children (46 percent) in the placebo group (relative risk, 0.53; 95 percent confidence interval, 0.33 to 0.87; P=0.01). This effect persisted after adjustment for birth weight and sex, as well as for the presence or absence of chronic lung disease and severe intraventricular hemorrhage or periventricular leukomalacia. The improvement in neurodevelopmental outcome in the group given inhaled nitric oxide was primarily due to a 47 percent decrease in the risk of cognitive impairment (defined by a score of less than 70 on the Bayley Mental Developmental Index) (P=0.03). Conclusions: Premature infants treated with inhaled nitric oxide have improved neurodevelopmental outcomes at two years of age.展开更多
文摘脆性X综合征(fragile X syndrome,FXS)是FMR1基因CGG异常重复扩增导致的疾病。本文报告1对经基因检测诊断为FXS的兄弟,2例患者分别为15岁和14岁,均存在语言障碍、智力障碍、注意力缺陷障碍、孤独症谱系障碍和FXS特征性面容等临床表现,其中先证者伴有罕见的晚发性癫痫发作,经左乙拉西坦治疗效果良好,而其弟弟经反复随访未见脑电图异常。该对病例提示FXS临床表型具有多样性和异质性。
文摘Aim: To explore possible patterns of comorbidity in children with severe developmental language disorders (DLD). Methods: A retrospective investigation of the clinical records of 28 children relating to oral motor and language problems, psychological profiles, medical history and EEG findings. Results: 36% of all the children had pure expressive language problems, 64% had combined expressive-receptive language problems and 57% had additional oralmotor problems. Girls predominated in expressive-receptive problems,while boys predominated in oral motor problems. Children with expressive-receptive disorders were over-represented at the lower end of normal full-scale IQ (p = 0.015). Lower verbal than non-verbal IQ levels were almost as common as equal levels, but a lower non-verbal IQ than verbal IQ was also found. Pre/perinatal problems were found in 21% , and heredity for developmental language problems or dyslexia in 39% . There was a higher proportion of attention and motor problems, EEG abnormalities, and epileptic syndromes than in the general population (p < 0.001). Conclusion: In severe DLD, both pure expressive and mixed expressive-receptive problems are found, and oral motor problems are common. Gender differences regarding symptoms are present. Receptive language ability is associated with the full-scale IQ level. A high proportion of EEG abnormalities and epilepsy is found. There is a complex pattern of comorbidity between speech-language symptoms, psychological characteristics, heredity and EEG findings.
文摘Background: Chronic lung disease and severe intraventricular hemorrhage or periventricular leukomalacia in premature infants are associated with abnormal neurodevelopmental outcomes. In a previous randomized, controlled, single-center trial of premature infants with the respiratory distress syndrome, inhaled nitric oxide decreased the risk of death or chronic lung disease as well as severe intraventricular hemorrhage and periventricular leukomalacia. We hypothesized that infants treated with inhaled nitric oxide would also have improved neurodevelopmental outcomes. Methods: We conducted a prospective, longitudinal follow-up study of premature infants who had received inhaled nitric oxide or placebo to investigate neurodevelopmental outcomes at two years of corrected age. Neurologic examination, neurodevelopmental assessment, and anthropometric measurements were made by examiners who were unaware of the children’s original treatment assignment. Results: A total of 138 children (82 percent of survivors) were evaluated. In the group given inhaled nitric oxide, 17 of 70 children (24 percent) had abnormal neurodevelopmental outcomes, defined as either disability (cerebral palsy, bilateral blindness, or bilateral hearing loss) or delay (no disability, but one score of less than 70 on the Bayley Scales of Infant Development II), as compared with 31 of 68 children (46 percent) in the placebo group (relative risk, 0.53; 95 percent confidence interval, 0.33 to 0.87; P=0.01). This effect persisted after adjustment for birth weight and sex, as well as for the presence or absence of chronic lung disease and severe intraventricular hemorrhage or periventricular leukomalacia. The improvement in neurodevelopmental outcome in the group given inhaled nitric oxide was primarily due to a 47 percent decrease in the risk of cognitive impairment (defined by a score of less than 70 on the Bayley Mental Developmental Index) (P=0.03). Conclusions: Premature infants treated with inhaled nitric oxide have improved neurodevelopmental outcomes at two years of age.
