As the most common chromosomal disorder compatible to life, Down syndrome (DS) is caused by an extra copy of chromosome 21. Almost all DS patients have cognitive dysfunction. Therefore, it is important to study the underlying pathogenetic mechanism to elucidate its molecular basis. This article has provided a review for the molecular mechanisms of NRIP1 and DYRK1A genes, which have been closely associated with the cognitive dysfunctions of DS patients. It has also summarized the research progress on the mechanism of DS and development of new therapeutic strategies based on such studies, with an aim to provide insights into the prevention and treatment for the cognitive dysfunctions in DS patients.
Down Syndrome/psychology* ; Humans ; Protein-Tyrosine Kinases/genetics* ; Dyrk Kinases ; Protein Serine-Threonine Kinases/genetics* ; Cognition Disorders/etiology*

PURPOSE: The purpose of this study, which was guided by the Resiliency Model of Family Stress, Adjustment, and Adaptation, was twofold: (a) to explore family and parental adaptation and factors influencing family adaptation in Korean families of children with Down syndrome (DS) through a quantitative methodology and (b) to understand the life with a Korean child with DS through a qualitative method. METHODS: A mixed-methods design was adopted. A total of 147 parents of children with DS completed a package of questionnaires, and 19 parents participated in the in-depth interviews. Quantitative and qualitative data were analyzed using stepwise multiple regression and content analysis respectively. RESULTS: According to the quantitative data, the overall family adaptation scores indicated average family functioning. Financial status was an important variable in understanding both family and parental adaptation. Family adaptation was best explained by family problem solving and coping communication, condition management ability, and family hardiness. Family strains and family hardiness were the family factors with the most influence on parental adaption. Qualitative data analysis showed that family life with a child with DS encompassed both positive and negative aspects and was expressed with 5 themes, 10 categories, and 16 sub-categories. CONCLUSION: Results of this study expand our limited knowledge and understanding concerning families of children with DS in Korea and can be used to develop effective interventions to improve the adaptation of family as a unit as well as parental adaptation.
*Adaptation, Psychological ; Adolescent ; Adult ; Child ; Child, Preschool ; Down Syndrome/*diagnosis ; Family/psychology ; Female ; Humans ; Infant ; Infant, Newborn ; Interviews as Topic ; Male ; Middle Aged ; Parents/psychology ; Regression Analysis ; Social Support ; Stress, Psychological ; Surveys and Questionnaires ; Young Adult

Autistic Disorder ; complications ; psychology ; Child ; Child Development ; Communication ; Down Syndrome ; complications ; physiopathology ; psychology ; Follow-Up Studies ; Humans ; Interpersonal Relations ; Male ; Play and Playthings ; Singapore ; Social Behavior ; Stress, Psychological ; psychology

Acupuncture Therapy ; Attention ; Child, Preschool ; Down Syndrome ; physiopathology ; psychology ; therapy ; Humans ; Language ; Male ; Walking

MicroRNAs (miRNAs) are small noncoding RNA molecules that negatively regulate gene expression via degradation or translational repression of their target messenger RNAs (mRNAs). Recent studies have clearly demonstrated that miRNAs play critical roles in several biologic processes, including cell cycle, differentiation, cell development, cell growth, and apoptosis and that miRNAs are highly expressed in regulatory T (Treg) cells and a wide range of miRNAs are involved in the regulation of immunity and in the prevention of autoimmunity. It has been increasingly reported that miRNAs are associated with various human diseases like autoimmune disease, skin disease, neurological disease and psychiatric disease. Recently, the identification of mi- RNAs in skin has added a new dimension in the regulatory network and attracted significant interest in this novel layer of gene regulation. Although miRNA research in the field of dermatology is still relatively new, miRNAs have been the subject of much dermatological interest in skin morphogenesis and in regulating angiogenesis. In addition, miRNAs are moving rapidly onto center stage as key regulators of neuronal development and function in addition to important contributions to neurodegenerative disorder. Moreover, there is now compelling evidence that dysregulation of miRNA networks is implicated in the development and onset of human neruodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, Huntington's disease, Tourette's syndrome, Down syndrome, depression and schizophrenia. In this review, I briefly summarize the current studies about the roles of miRNAs in various autoimmune diseases, skin diseases, psychoneurological disorders and mental stress.
Alzheimer Disease ; Apoptosis ; Autoimmune Diseases ; Autoimmunity ; Cell Cycle ; Cell Differentiation ; Depression ; Dermatology ; Down Syndrome ; Gene Expression ; Humans ; Huntington Disease ; MicroRNAs ; Morphogenesis ; Neurodegenerative Diseases ; Neurons ; Parkinson Disease ; Repression, Psychology ; RNA ; RNA, Messenger ; RNA, Small Untranslated ; Schizophrenia ; Skin ; Skin Diseases ; Tourette Syndrome

MicroRNAs (miRNAs) are small noncoding RNA molecules that negatively regulate gene expression via degradation or translational repression of their target messenger RNAs (mRNAs). Recent studies have clearly demonstrated that miRNAs play critical roles in several biologic processes, including cell cycle, differentiation, cell development, cell growth, and apoptosis and that miRNAs are highly expressed in regulatory T (Treg) cells and a wide range of miRNAs are involved in the regulation of immunity and in the prevention of autoimmunity. It has been increasingly reported that miRNAs are associated with various human diseases like autoimmune disease, skin disease, neurological disease and psychiatric disease. Recently, the identification of mi- RNAs in skin has added a new dimension in the regulatory network and attracted significant interest in this novel layer of gene regulation. Although miRNA research in the field of dermatology is still relatively new, miRNAs have been the subject of much dermatological interest in skin morphogenesis and in regulating angiogenesis. In addition, miRNAs are moving rapidly onto center stage as key regulators of neuronal development and function in addition to important contributions to neurodegenerative disorder. Moreover, there is now compelling evidence that dysregulation of miRNA networks is implicated in the development and onset of human neruodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, Huntington's disease, Tourette's syndrome, Down syndrome, depression and schizophrenia. In this review, I briefly summarize the current studies about the roles of miRNAs in various autoimmune diseases, skin diseases, psychoneurological disorders and mental stress.
Alzheimer Disease ; Apoptosis ; Autoimmune Diseases ; Autoimmunity ; Cell Cycle ; Cell Differentiation ; Depression ; Dermatology ; Down Syndrome ; Gene Expression ; Humans ; Huntington Disease ; MicroRNAs ; Morphogenesis ; Neurodegenerative Diseases ; Neurons ; Parkinson Disease ; Repression, Psychology ; RNA ; RNA, Messenger ; RNA, Small Untranslated ; Schizophrenia ; Skin ; Skin Diseases ; Tourette Syndrome

PURPOSE: To evaluate social adjustment and related factors among Chinese children with Down syndrome (DS). PATIENTS AND METHODS: A structured interview and Peabody Picture Vocabulary Test (PPVT) were conducted with a group of 36 DS children with a mean age of 106.28 months, a group of 30 normally-developing children matched for mental age (MA) and a group of 40 normally-developing children matched for chronological age (CA). Mean scores of social adjustment were compared between the three groups, and partial correlations and stepwise multiple regression models were used to further explore related factors. RESULTS: There was no difference between the DS group and the MA group in terms of communication skills. However, the DS group scored much better than the MA group in self-dependence, locomotion, work skills, socialization and self-management. Children in the CA group achieved significantly higher scores in all aspects of social adjustment than the DS children. Partial correlations indicate a relationship between social adjustment and the PPVT raw score and also between social adjustment and age (significant r ranging between 0.24 and 0.92). A stepwise linear regression analysis showed that family structure was the main predictor of social adjustment. Newborn history was also a predictor of work skills, communication, socialization and self-management. Parental education was found to account for 8% of self-dependence. Maternal education explained 6% of the variation in locomotion. CONCLUSION: Although limited by the small sample size, these results indicate that Chinese DS children have better social adjustment skills when compared to their mental-age-matched normally-developing peers, but that the Chinese DS children showed aspects of adaptive development that differed from Western DS children. Analyses of factors related to social adjustment suggest that effective early intervention may improve social adaptability.
Adolescent ; Asian Continental Ancestry Group/*psychology ; Child ; Child, Preschool ; China ; Communication ; Down Syndrome/ethnology/*psychology ; Female ; Humans ; Male ; *Social Adjustment ; Socioeconomic Factors

PURPOSE: Although influenza virus is one of the most important causes of acute respiratory tract infections(ARTIs) in children, virus isolation is not popular and there are only a few clinical studies on influenza in Korea. We evaluated the epidemiologic and clinical features of ARTIs by influenza virus in children. METHODS: From February 1995 to August 2001, nasopharyngeal aspirations were obtained and cultured for the isolation of influenza virus in children admitted with ARTIs. The medical records of patients with influenza virus infection were reviewed retrospectively. RESULTS: Respiratory viruses were isolated in 997(22.0%) out of 4,533 patients examined, and influenza virus was isolated in 164 cases(3.6%). Influenza virus was isolated year after year mainly from December to April of next year. The ratio of male and female was 1.9 : 1 with a median age of 15 months. The most common clinical diagnosis of influenza virus infection was pneumonia, and fever and cough developed in most patients. There was no difference between influenza A and B infection in clinical diagnoses and symptoms. All patients recovered without receiving antiviral treatment except for one patient diagnosed with pneumonia who had underlying disease of Down syndrome with ventricular septal defect. CONCLUSIONS: ARTIs caused by influenza virus developed every winter and spring during the period of study. Because fatal complication can develop in the high risk group, prevention, early diagnosis and proper management of influenza should be emphasized.
Aspirations (Psychology) ; Child* ; Cough ; Diagnosis ; Down Syndrome ; Early Diagnosis ; Female ; Fever ; Heart Septal Defects, Ventricular ; Humans ; Influenza, Human* ; Korea ; Male ; Medical Records ; Orthomyxoviridae* ; Pneumonia ; Respiratory System* ; Respiratory Tract Infections* ; Retrospective Studies

To study whether it is helped or not to medical diagnosis for children with normal and abnormal chromosomes from mental retardations, author performed and analyzed patterns of fingerprints, palmar prints creases on 99 mentally retarded children with normal chromosome and 16 mentally retarded children with Down syndrome and compared with healthy control group. In patterns of fingerprint, high frequency of ulnar loop showed significantly on fifth finger in mentally retarded children, while dominant whorl showed on first and fourth fingers in control group. High frequency of finger ridge count was appeared in Down syndrome, mentally retarded with normal chromosome (MRNC) and control group in order. Total ridge count TRC) was significantly decreased in Down syndrome, MRNC compared with control group. Total triradius count was significantly decreased in Down syndrome, however, no discrimination between control group and MRNC was found. a -b ridge count was not different among the groups. atd angle was wider in Down syndrome than in control group and MRNC. Interdigital pattern was high on ulnar loop of I3 in Down syndrome, in contrast, on ulnar loop of I4 in control group. In conclusion, detailed analysis of dermatoglyphics is able to contribute to study medical diagnosis on children with mentally retarded through above data.
Child ; Dermatoglyphics* ; Diagnosis ; Discrimination (Psychology) ; Down Syndrome ; Fingers ; Humans ; Intellectual Disability* ; Mentally Disabled Persons

Correct discrimination of the first and the second twin is important. Case: (1) The first fetus, whose amnionic cavity was closest to the cervix at 19 weeks, even though its body was higher than the second fetus, was found to be closer to the cervix by 23 gestational weeks than its twin. (2) The result of the chromosomal study of dichorionic twins at 17 gestational weeks was male with 9 inversion of the presumed first, and female with trisomy 21 of the presumed second. AT 19 gestational weeks, the sex and order of the two were found to be reversed at sonography for selective termination. In diamnionic twins, the fetus in the amnionic sac closest to the cervix is nominated as the first.
Amnion ; Cervix Uteri ; Diagnosis* ; Discrimination (Psychology) ; Down Syndrome ; Female ; Fetus* ; Humans ; Male ; Pregnancy, Twin* ; Twins*