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AIM: To investigate parenting and mother-child interactions in unaffected siblings of autistic children. METHOD: This cross-sectional study enrolled 274 probands with a DSM-5 diagnosis of autism spectrum disorder (ASD) (87.4% male; mean [SD] age = 11 years 4 months [3 years 2 months]), their unaffected siblings (n = 274, 46.72% male; mean [SD] age = 11 years 3 months [3 years 4 months]), and 296 age-balanced and sex-balanced typically developing children (82.77% male; mean [SD] age = 11 years 3 months [2 years 8 months]). Maternal parenting styles and mother-child interactions were assessed using maternal reporting. RESULTS: Regardless of the child's age, maternal educational level, or presence of attention-deficit/hyperactivity disorder, autistic children received more overprotective and controlling parental behaviour than unaffected children. Correlates for parenting, mother-child interactions, and behavioural problems in the home setting in children with ASD and typically developing children were autistic traits, maternal anxiety and depressive symptoms, and maternal autistic characteristics; those in unaffected siblings were age, autistic traits, maternal educational level, and maternal autistic characteristics. INTERPRETATION: The diagnosis of ASD in a child can significantly influence maternal parenting behaviours, mother-child interactions, and the child's behavioural problems in the home setting. Furthermore, maternal anxiety or depressive symptoms, along with autistic characteristics in both mother and child, might shape parenting practices and exacerbate behavioural difficulties in autistic children.
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Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with heterogeneous and complex genetic underpinnings. Our previous microarray gene expression profiling identified significantly different neuregulin-2 gene (NRG2) expression between ASD patients and controls. Thus, we aimed to clarify whether NRG2 is a candidate gene associated with ASD. The study consisted of two stages. First, we used real-time quantitative PCR in 20 ASDs and 20 controls to confirm the microarray gene expression profiling results. The average NRG2 gene expression level in patients with ASD (3.23 ± 2.80) was significantly lower than that in the controls (9.27 ± 4.78, p < 0.001). Next, we conducted resequencing of all the exons of NRG2 in a sample of 349 individuals with ASD, aiming to identify variants of the NRG2 associated with ASD. We identified three variants, including two single nucleotide variants (SNVs), IVS3 + 13A > G (rs889022) and IVS10 + 32T > A (rs182642591), and one small deletion at exon 11 of NRG2 (delGCCCGG, rs933769137). Using data from the Taiwan Biobank as the controls, we found no significant differences in allele frequencies of rs889022 and rs182642591 between two groups. However, there is a significant difference in the genotype and allele frequency distribution of rs933769137 between ASDs and controls (p < 0.0001). The small deletion is located in the EGF-like domain at the C-terminal of the NRG2 precursor protein. Our findings suggest that NRG2 might be a susceptibility gene for ASD.
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Trastorno del Espectro Autista , Predisposición Genética a la Enfermedad , Neurregulinas , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Trastorno del Espectro Autista/genética , Estudios de Casos y Controles , Exones/genética , Perfilación de la Expresión Génica , Frecuencia de los Genes , Estudios de Asociación Genética , Factores de Crecimiento Nervioso , Neurregulinas/genética , Neurregulinas/metabolismo , Polimorfismo de Nucleótido SimpleRESUMEN
BACKGROUND: Although the neural mechanisms of the theory of mind (ToM) in children with autism spectrum disorder (ASD) through fMRI using the social animation task have been investigated, little is known in adults with ASD. Therefore, the present study aimed to explore the neural substrates of ToM in adults with ASD. Moreover, we aimed to elucidate the relationship between brain activation and behavior of social interaction in adults with ASD. METHODS: Twenty-four healthy controls and 24 adults with the clinical diagnosis of ASD were recruited. Participants were asked to complete the social animation task in functional magnetic resonance imaging. The imaging analyses of within (whole brain analysis) and between (5 regions of interest) group comparisons were conducted to explore the process of ToM. The correlation analyses were further conducted to explore the relationship between neural activations associated with ToM and social interaction abilities assessed by ADI-R. RESULTS: The ASD group showed greater activation in the left precuneus and right superior temporal gyrus (STG) than the control group. For correlation analyses, greater right STG activation was positively correlated with autistic symptoms assessed by the ADI-R in the ASD group. CONCLUSION: ASD adults might spend a lot of effort on identification processing, thereby influencing social communication skills. Also, the neural deficits of ToM in ASD adults might be associated with their social interaction difficulties.
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Trastorno del Espectro Autista , Teoría de la Mente , Niño , Humanos , Adulto , Trastorno del Espectro Autista/diagnóstico por imagen , Imagen por Resonancia Magnética , Encéfalo/diagnóstico por imagenRESUMEN
BACKGROUND/PURPOSE: The diagnosis of autism spectrum disorder (ASD), involving multiple components of clinical assessments, is challenging. The Autism Diagnostic Observation Schedule-Generic (ADOS-G), one of the standardized and validated instruments for ASD diagnostic evaluation, has been widely used in many countries. With the preparation of the Mandarin version of the ADOS-G (Mandarin-ADOS-G), this study aims to examine its psychometric properties, including reliability and validity. METHODS: The sample included 554 individuals clinically diagnosed with ASD (477 males, 86.1%) and 50 typically developing (TD) individuals (29 males, 58.0%) who were assessed with different modules of the Mandarin-ADOS-G between 4.1 and 34.0 years old with a mean age of 13.0 years (Module 1, n = 40; Module 2, n = 46; Module 3, n = 275; Module 4, n = 243). We evaluated the inter-rater reliability, test-retest reliability, internal consistency, and concurrent validity with the Chinese Autism Diagnostic Interview-Revised (ADI-R) and Social Responsiveness Scale (SRS) caregiver-report and self-report forms. The discriminative validity of Mandarin-ADOS-G was also examined. RESULTS: The Mandarin-ADOS-G demonstrated good inter-rater reliability (agreement of ADOS classification 0.91), good test-retest reliability (intraclass correlations 0.55-0.73), and low to high good internal consistency (Cronbach's alpha 0.27-0.86). The concurrent validity showed significant correlations with ADI-R (Pearson correlations 0.22-0.37) and the SRS caregiver-report form (Pearson correlations 0.15-0.23). Moreover, all Mandarin-ADOS-G domains successfully differentiated autistic individuals from TD individuals (all p-values <0.001). CONCLUSION: The Mandarin-ADOS-G is a reliable and valid instrument for assisting the diagnosis of ASD in the Mandarin-speaking population.
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Trastorno del Espectro Autista , Trastorno Autístico , Masculino , Humanos , Adolescente , Preescolar , Niño , Adulto Joven , Adulto , Trastorno Autístico/diagnóstico , Psicometría , Trastorno del Espectro Autista/diagnóstico , Reproducibilidad de los Resultados , AutoinformeRESUMEN
BACKGROUND/PURPOSE: Youths with autism spectrum disorder (ASD) are at a high risk of involvement in school bully. The study investigated whether comorbid psychopathologies mediated the link between ASD and bullying involvement. METHODS: We assessed 353 youths (mean age, 11.8 ± 3.1 years), including 121 youths with ASD and 232 typically developing (TD) controls, using semi-structured diagnostic interviews on ASD and other psychiatric conditions. Follow-up assessments took place 2-5 years (37.6 ± 15 months) later. Meanwhile, their parents reported on the Social Adjustment Inventory for Children and Adolescents about bullying involvement statuses. We identified significant mediators by simple mediation models, followed by multiple mediation models to scrutinize the mediation effects of selected mediators. RESULTS: The results showed a sevenfold increased risk of bullying involvement among youths with ASD compared with TD controls at follow-up. In general, psychopathologies mediated the link between ASD and bullying involvement, even independent of age and sex. Specifically, we found mediating effects of social problems on victimization-only and aggressive behaviors on victimization-perpetration. CONCLUSION: Our findings strongly suggest the link between ASD and later bullying involvement is mediated by pre-existing comorbid psychiatric conditions, besides the direct effect of ASD on bullying victimization. Hence, early identification and intervention of these psychopathologies are highly suggested.
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Trastorno del Espectro Autista , Acoso Escolar , Víctimas de Crimen , Adolescente , Niño , Estudios de Seguimiento , Humanos , PsicopatologíaRESUMEN
BACKGROUND: Executive dysfunction is one of the main cognitive theories of autism spectrum disorder (ASD). Despite evidence of deficits in executive functions in individuals with ASD, little is known about executive dysfunctions as candidate cognitive endophenotypes for ASD. In this study, we investigated executive functions in youths with ASD, their unaffected siblings and typically developing controls (TDC). METHODS: We recruited 240 youths with a clinical diagnosis of ASD (aged 6-18 years), 147 unaffected siblings of ASD youths, and 240 TDC youths. TDC youths were recruited based on the age and sex distribution of the ASD youths. Participants were assessed using the verbal Digit Span test and four executive function tasks from the Cambridge Neuropsychological Test Automated Battery, including Intra-dimensional/Extra-dimensional Shift (I/ED), Spatial Span (SSP), Spatial Working Memory (SWM), and Stocking of Cambridge (SoC). RESULTS: ASD youths, relative to TDC, performed significantly worse in executive function tasks assessing verbal working memory (forward and backward digit span), set-shifting (I/ED), visuospatial working memory (SSP, SWM), and planning/problem solving (SoC). Furthermore, unaffected siblings, relative to TDC, performed worse in forward and backward digit recalls and made more errors in SWM. These results were independent of the effects of age, sex, IQ, and symptoms of attention-deficit/hyperactivity disorder. CONCLUSIONS: Our findings support impaired executive functions in youths with ASD. However, unaffected siblings were mostly unimpaired except in the areas of verbal and spatial working memory, which may be potential cognitive endophenotypes for ASD.
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Trastorno del Espectro Autista/psicología , Función Ejecutiva , Hermanos/psicología , Adolescente , Niño , Femenino , Humanos , Masculino , Memoria a Corto Plazo , Pruebas Neuropsicológicas , TaiwánRESUMEN
Autism spectrum disorder (ASD) is a childhood neuropsychiatric disorder with a complex genetic architecture. The diagnostic potential of a targeted panel of ASD genes has only been evaluated in small cohorts to date and is especially understudied in the Chinese population. Here, we designed a capture panel with 358 genes (111 syndromic and 247 nonsyndromic) for ASD and sequenced a Chinese cohort of 539 cases evaluated with the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) as well as 512 controls. ASD cases were found to carry significantly more ultra-rare functional variants than controls. A subset of 78 syndromic and 54 nonsyndromic genes was the most significantly associated and should be given high priority in the future screening of ASD patients. Pathogenic and likely pathogenic variants were detected in 9.5% of cases. Variants in SHANK3 and SHANK2 were the most frequent, especially in females, and occurred in 1.2% of cases. Duplications of 15q11-13 were detected in 0.8% of cases. Variants in CNTNAP2 and MEF2C were correlated with epilepsy/tics in cases. Our findings reveal the diagnostic potential of ASD genetic panel testing and new insights regarding the variant spectrum. Genotype-phenotype correlations may facilitate the diagnosis and management of ASD.
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Pueblo Asiatico/genética , Trastorno del Espectro Autista/diagnóstico , Redes Reguladoras de Genes , Mutación , Análisis de Secuencia de ADN/métodos , Adulto , Trastorno del Espectro Autista/genética , Estudios de Cohortes , Diagnóstico Precoz , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Factores de Transcripción MEF2/genética , Masculino , Proteínas de la Membrana/genética , Persona de Mediana Edad , Proteínas del Tejido Nervioso/genética , Adulto JovenRESUMEN
Increased intrasubject variability in reaction times (RT-ISV) is frequently found in individuals with autism spectrum disorder (ASD). However, how dimensional attention deficit/hyperactivity disorder (ADHD) symptoms impact RT-ISV in individuals with ASD remains elusive. We assessed 97 high-functioning youths with co-occurring ASD and ADHD (ASD+ADHD), 124 high-functioning youths with ASD only, 98 youths with ADHD only, and 249 typically developing youths, 8-18 years of age, using the Conners Continuous Performance Test (CCPT). We compared the conventional CCPT parameters (omission errors, commission errors, mean RT and RT standard error (RTSE) as well as the ex-Gaussian parameters of RT (mu, sigma, and tau) across the four groups. We also conducted regression analyses to assess the relationships between RT indices and symptoms of ADHD and ASD in the ASD group (i.e., the ASD+ADHD and ASD-only groups). The ASD+ADHD and ADHD-only groups had higher RT-ISV than the other two groups. RT-ISV, specifically RTSE and tau, was significantly associated with ADHD symptoms rather than autistic traits in the ASD group. Regression models also revealed that sex partly accounted for RT-ISV variance in the ASD group. A post hoc analysis showed girls with ASD had higher tau and RTSE values than their male counterparts. Our results suggest that RT-ISV is primarily associated with co-occurring ADHD symptoms/diagnosis in children and adolescents with ASD. These results do not support the hypothesis of response variability as a transdiagnostic phenotype for ASD and ADHD and warrant further validation at a neural level.
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Trastorno por Déficit de Atención con Hiperactividad/psicología , Trastorno del Espectro Autista/psicología , Tiempo de Reacción/genética , Adolescente , Niño , Femenino , Humanos , MasculinoRESUMEN
BACKGROUND/PURPOSE: Central nervous system (CNS) patterning genes are recognized as candidate genes for autism spectrum disorders (ASDs) based on neuroimaging and neuropathological evidence. Several genes that regulate CNS development are shown to be associated with ASD. Our previous family-based association study also revealed that a specific haplotype of WNT2 (wingless-type MMTV integration site family member 2) gene was overtransmitted to probands with ASD. Whether the CNS patterning genes moderate the clinical phenotype of ASD is unclear. This study investigated the genetic associations of WNT2, engrailed 2 (EN2), and forkhead box P2 (FOXP2) with the clinical symptom severity. METHODS: The sample included 391 patients (males, 88.3%; mean age±standard deviation, 9.5±4.4 years) diagnosed with ASDs. Tag single nucleotide polymorphisms (SNPs) of EN2, WNT2, and FOXP2 were genotyped. The single-locus and multilocus markers were tested for association. RESULTS: We found that multilocus markers of WNT2 were associated with stereotyped behaviors whereas the markers of FOXP2 tended to be associated with social deficits. Moreover, an SNP of WNT2 showed a trend to be associated with less inattentive symptoms. CONCLUSION: Our findings that WNT2 and FOXP2 may moderate the clinical phenotypes of ASD provide evidence to support the possible universal effect of WNT2 and FOXP2 on neurodevelopmental symptom dimensions. Such findings warrant further validation in other independent samples. TRIAL REGISTRATION: Clinical trial registration identifier: NCT00494754.
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Trastorno del Espectro Autista/genética , Trastorno del Espectro Autista/fisiopatología , Factores de Transcripción Forkhead/genética , Proteína wnt2/genética , Adolescente , Niño , Preescolar , Femenino , Haplotipos , Humanos , Masculino , Fenotipo , Polimorfismo de Nucleótido Simple , Índice de Severidad de la Enfermedad , TaiwánRESUMEN
BACKGROUND: Few studies have compared the risks of mental health problems among the adolescents with different levels and different types of bullying involvement experiences. METHOD: Bullying involvement in 6,406 adolescents was determined through use of the Chinese version of the School Bullying Experience Questionnaire. Data were collected regarding the mental health problems, including depression, suicidality, insomnia, general anxiety, social phobia, alcohol abuse, inattention, and hyperactivity/impulsivity. The association between experiences of bullying involvement and mental health problems was examined. The risk of mental health problems was compared among those with different levels/types of bullying involvement. RESULTS: The results found that being a victim of any type of bullying and being a perpetrator of passive bullying were significantly associated with all kinds of mental health problems, and being a perpetrator of active bullying was significantly associated with all kinds of mental health problems except for general anxiety. Victims or perpetrators of both passive and active bullying had a greater risk of some dimensions of mental health problems than those involved in only passive or active bullying. Differences in the risk of mental health problems were also found among adolescents involved in different types of bullying. CONCLUSIONS: This difference in comorbid mental health problems should be taken into consideration when assessing adolescents involved in different levels/types of bullying.
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Conducta del Adolescente/psicología , Acoso Escolar/psicología , Víctimas de Crimen/psicología , Trastornos Mentales/psicología , Adolescente , Agresión/psicología , Ansiedad/psicología , Depresión/psicología , Femenino , Humanos , Masculino , Salud Mental , Trastornos del Inicio y del Mantenimiento del Sueño/psicología , Estudiantes/psicología , Suicidio/psicología , TaiwánRESUMEN
BACKGROUND/PURPOSE: Diagnosis disclosure is an important clinical issue in developmental disabilities, which may influence parents' ability to cope with their child's conditions. This paper presents the content and patterns of diagnosis-informed counseling for mothers of children with autism and investigates the determinants for maternal satisfaction with this counseling, in order to improve clinical practice. METHODS: Mothers of 151 children, aged 3-12 years, with DSM-IV autistic disorder, confirmed by the Chinese version of the Autism Diagnostic Interview-Revised, were assessed. We collected information about the mothers' experience with diagnosis-informed counseling, their personality characteristics, and the extent to which they were satisfied with the counseling. RESULTS: Satisfaction with diagnosis-informed counseling was related more to the context of the counseling, including the attitude of the counselors and the timing and duration of counseling, than to its content. Parents' social desirability, educational level, and employment status were negatively associated with their satisfaction with counseling. However, immediate emotion, neuroticism, and extroversion did not have a significant effect on the satisfaction with counseling. Approximately 60% of the mothers preferred to be informed of having an autistic child after the diagnosis had been confirmed. CONCLUSION: Our findings suggest that more efforts are needed to improve the quality of diagnosis-informed counseling in autism, particularly in the context of breaking the news to mothers of children with autism. Future study could further examine the moderating effect of diagnostic subtype of autism spectrum disorders, treatment response, or social support on maternal satisfaction with diagnosis-informed counseling (ClinicalTrials.gov number, NCT00494754).
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Trastorno Autístico/diagnóstico , Revelación , Madres/psicología , Satisfacción Personal , Adulto , Niño , Preescolar , Consejo , Discapacidades del Desarrollo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Análisis de Regresión , TaiwánRESUMEN
BACKGROUND: Little is known about how clinical features prospectively influence peer relationships in autistic populations. AIMS: This study investigated the clinical symptoms mediating the link between autism spectrum disorder (ASD) diagnosis and peer relationships at follow-up, i.e. the second time evaluation of this study. METHODS: The sample consisted of 366 autistic youths and 134 non-autistic comparisons. The autistic traits and emotional/behavioral problems were measured at baseline by Social Responsiveness Scale (SRS) and Child Behavior Checklist (CBCL). The interactions and problems with peers were assessed by the Social Adjustment Inventory for Children and Adolescents (SAICA) at follow-up. RESULTS: Each subscore of SRS and CBCL showed significant mediation effects. Multiple mediation analyses showed atypical social communication, social awareness problems, and delinquent behaviors mediated the link from ASD to less active peer interactions after controlling for sex, age, and IQ. Moreover, atypical social communication, social-emotional problems, and attention difficulties predicted problems with peers. After considering these mediation effects, the diagnosis of ASD still demonstrated a significantly direct effect on peer relationships at follow-up. CONCLUSIONS AND IMPLICATIONS: Our findings support that social-related autistic features, attention problems, and delinquent behaviors mediated a link between ASD and peer relationships. These mediators are potential measures for improving interactions and decreasing difficulties with peers in the autistic population.
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Trastorno del Espectro Autista , Grupo Paritario , Humanos , Masculino , Femenino , Niño , Trastorno del Espectro Autista/psicología , Adolescente , Estudios de Seguimiento , Conducta Social , Relaciones Interpersonales , Estudios de Casos y Controles , Emociones , Problema de Conducta/psicología , Interacción Social , Comunicación , Delincuencia Juvenil/psicología , Ajuste Social , Síntomas Conductuales/psicologíaRESUMEN
The angiotensin-converting enzyme (ACE) gene is one of the most studied candidate genes related to diabetic retinopathy (DR). ACE 2350 G/A polymorphism (rs4343) is known among the polymorphisms of this gene to have the most significant effect on plasma ACE concentrations. The aim of the present study was to investigate the relationship between 2350 G/A polymorphism of ACE gene and the susceptibility of DR in Chinese Han population. A case-control study for 145 type 2 diabetes mellitus (DM) patients, including 63 type 2 DM without DR (NDR) and 82 type 2 DM with DR (DR), and 90 subjects of age, gender matched normal controls (NC group) was performed. ACE 2350 G/A genotypes were identified by polymerase chain reaction and restriction digestion in all study participants. The distribution of the ACE 2350 G/A genotypes (GG, GA, and AA) was 35.56, 45.55, and 18.89 % in the NC group, 28.57, 46.03, and 25.40 % in the NDR group, and 15.85, 46.34, and 37.81 % in the DR group, respectively. There were no significant differences in either genotype frequency distribution (P = 0.5266) or allele frequency distribution (P = 0.2425) between the NC group and NDR group. However, the distribution of genotype frequency (P = 0.0026) and allele frequency (P = 0.0003) in the DR group showed a significant difference when compared to that of NC group (P = 0.0075). Moreover, there was statistical difference in allele frequency distribution (P = 0.0328) between the DR group and the NDR group. No statistical differences were observed between ACE 2350 G/A polymorphism and the diabetes duration or types of DR. Results obtained in this study indicate that ACE 2350 G/A polymorphism is associated with DR in Han Chinese patients with type 2 DM.
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Pueblo Asiatico/genética , Retinopatía Diabética/genética , Predisposición Genética a la Enfermedad , Peptidil-Dipeptidasa A/genética , Polimorfismo de Nucleótido Simple , Anciano , Alelos , Estudios de Casos y Controles , China/etnología , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Persona de Mediana EdadRESUMEN
OBJECTIVE: Western literature documents impaired father-child interactions in addition to strong evidence of impaired mother-child interactions in children with attention-deficit/hyperactivity disorder (ADHD). However, the parenting process of fathers and their engagement in the Asian family with children with ADHD remain unexplored. The authors compared fathering and father-child relationships between children with ADHD and those without ADHD and identified the correlates of these paternal measures. METHODS: Fathering and father-child relationships were compared between 296 children with attention-deficit/hyperactivity disorder (ADHD) and 229 children without ADHD in Taiwan. All child participants and their parents received psychiatric interviews for the diagnosis of ADHD and other psychiatric disorders of the children, and their fathers were assessed for ADHD, anxiety and depressive symptoms. Both the fathers and children reported on the father's parenting style, father-child interactions, behavioral problems at home, and perceived family support. RESULTS: The results showed that children with ADHD received less affection/care and more overprotection and authoritarian control from their fathers. They had less active interactions with their fathers, more severe behavioral problems at home; and perceived less family support than children without ADHD. Correlates for impaired father-child interactions included childhood ADHD symptoms, any comorbidity, age at assessment, and the father's neurotic personality and depressive symptoms. In addition, the children reported more negatively on fathering and father-child interactions than the fathers. CONCLUSIONS: Our findings suggest the negative impacts of ADHD on the father's parenting style and father-child interactions. Clinical interventions aimed at improving father-child interactions warrant more attention.
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Trastorno por Déficit de Atención con Hiperactividad/psicología , Relaciones Padre-Hijo , Padre/psicología , Responsabilidad Parental/psicología , Adolescente , Adulto , Ansiedad/psicología , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Niño , Trastorno Depresivo/psicología , Autoevaluación Diagnóstica , Femenino , Humanos , Masculino , Medio SocialRESUMEN
This study aimed to examine the relationship between three indicators of family adversity (domestic violence, family substance use, and broken parental marriage) and the severity of social anxiety among adolescents in Taiwan, as well as the mediating effects of perceived family function and self-esteem on that relationship, using structural equation modeling (SEM). A total of 5607 adolescents completed the social anxiety subscale of the Multidimensional Anxiety Scale for Children; the Family APGAR Index; the Rosenberg Self-Esteem Scale; and a questionnaire for domestic violence, family substance use, and broken parental marriage. The relation between family adversity and social anxiety, as well as the mediating effects of family function and self-esteem, was examined using SEM. SEM analysis revealed that all three indicators of family adversity reduced the level of family function, that decreased family function compromised the level of self-esteem, and that a low level of self-esteem further increased the severity of social anxiety. The results indicated that, along with intervening to change family adversity, evaluating and improving adolescents' self-esteem and family function are also important clinical issues when helping adolescents reduce their social anxiety.
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Conducta del Adolescente/psicología , Ansiedad/psicología , Conflicto Familiar/psicología , Autoimagen , Conducta Social , Adolescente , Ansiedad/epidemiología , Niño , Estudios Transversales , Femenino , Humanos , Masculino , Taiwán/epidemiología , Adulto JovenRESUMEN
Autism spectrum disorders (ASD) are childhood-onset neurodevelopmental disorders characterized by verbal communication impairments, social reciprocity deficits, and the presence of restricted interests and stereotyped behaviors. Genetic factors contribute to the incidence of ASD evidently. However, the genetic spectrum of ASD is highly heterogeneous. Chromosomal abnormalities contribute significantly to the genetic deficits of syndromic and non-syndromic ASD. In this study, we conducted karyotyping analysis in a sample of 500 patients (447 males, 53 females) with ASD from Taiwan, the largest cohort in Asia, to the best of our knowledge. We found three patients having sex chromosome aneuploidy, including two cases of 47, XXY and one case of 47, XYY. In addition, we detected a novel reciprocal chromosomal translocation between long arms of chromosomes 4 and 14, designated t(4;14)(q31.3;q24.1), in a patient with Asperger's disorder. This translocation was inherited from his unaffected father, suggesting it might not be pathogenic or it needs further hits to become pathogenic. In line with other studies, our study revealed that subjects with sex chromosomal aneuploidy are liable to neurodevelopmental disorders, including ASD, and conventional karyotyping analysis is still a useful tool in detecting chromosomal translocation in patients with ASD, given that array-based comparative genomic hybridization technology can provide better resolution in detecting copy number variations of genomic DNA.
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Trastornos Generalizados del Desarrollo Infantil/genética , Aberraciones Cromosómicas , Adolescente , Niño , Preescolar , Femenino , Humanos , Cariotipificación , Masculino , Linaje , TaiwánRESUMEN
This study followed up ADHD/autistic symptoms and attentional performance in children/adolescents with ASD and typically developing ones (TD) over 5-7 years. The participants were stratified by age at baseline into child (< 12 years) and adolescent (12-19 years) groups. ADHD symptoms, especially hyperactivity, and attentional functions significantly improved during follow-up, more in children than in adolescents, in both ASD and TD. Significantly more omission errors and perseverations were noted in ASD than TD through the follow-up. Children with ASD had more improvement in reaction time while adolescents with ASD had less improvement in commission errors and detectability than TD. No correlation of attentional functions and ADHD symptoms in ASD implied different neural mechanisms of ADHD symptoms between ASD and ADHD.
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Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Trastorno Autístico , Trastornos Generalizados del Desarrollo Infantil , Humanos , Niño , Adolescente , Trastorno del Espectro Autista/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno Autístico/diagnóstico , Atención , Trastornos Generalizados del Desarrollo Infantil/diagnósticoRESUMEN
PURPOSE: A depletion of hyaluronic acid (HA) in patients' eyes may be associated with primary open-angle glaucoma (POAG), but the exact mechanism remains unclear. We investigated the effect of HA on the expression of matrix metalloproteinases (MMP-2 and MMP-9) in cultured trabecular meshwork cells. METHODS: Trabecular meshwork cells were cultured from trabecular tissues obtained from the POAG patients aged 23 to 45. The mRNA expression of MMP-2 and MMP-9 was determined by reverse transcription-polymerase chain reaction, and the protein expression of MMP-2 and MMP-9 by gelatin zymography analysis and qualified by the gel electrophoresis image analysis in different HA concentrations. RESULTS: The expression of MMP-2 and MMP-9 by the two methods significantly increased with HA concentration in a dose-response manner. Mean values of the MMP-2 expression by the gelatin zymography analysis were 176, 264, 353, and 448 mg/ml, and mean values of the MMP-9 expression were 547, 659, 895, and 1,147 mg/ml, for HA concentration level of 0, 1, 3, and 6 mg/ml, respectively. CONCLUSIONS: In POAG trabecular meshwork cells, the level of HA concentration increases the activities of MMP-2 and MMP-9. The lack of HA in aqueous humor can result in a reduction in activities of MMPs and therefore may be involved in the pathogenesis of POAG.
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Glaucoma de Ángulo Abierto/metabolismo , Ácido Hialurónico/farmacología , Metaloproteinasa 2 de la Matriz/metabolismo , Metaloproteinasa 9 de la Matriz/metabolismo , Malla Trabecular/efectos de los fármacos , Adulto , Humor Acuoso/metabolismo , Relación Dosis-Respuesta a Droga , Femenino , Expresión Génica/efectos de los fármacos , Glaucoma de Ángulo Abierto/genética , Glaucoma de Ángulo Abierto/patología , Humanos , Masculino , Metaloproteinasa 2 de la Matriz/genética , Metaloproteinasa 9 de la Matriz/genética , Persona de Mediana Edad , Cultivo Primario de Células , Malla Trabecular/metabolismo , Malla Trabecular/patologíaRESUMEN
AIM: To determine the differences in the remission rate, recovery rate, functional improvement, and treatment adherence related to treatment with short-acting immediate-release methylphenidate (IR-MPH) and long-acting osmotic-release oral system-methylphenidate (OROS-MPH) in a naturalistic setting among Taiwanese children with attention-deficit-hyperactivity disorder (ADHD). METHODS: A total of 757 children with ADHD, aged 6-18 years, was evaluated using the following in order determine functional improvement and treatment adherence: the Chinese version of the Swanson, Nolan, and Pelham, version IV scale (SNAP-IV-C), Clinical Global Impression-ADHD-Severity (CGI-S) to measure remission and recovery rates, the Chinese version of the Social Adjustment Inventory for Children and Adolescents (CSAICA), and caregiver's satisfaction rate, treatment adherence, and frequency of adverse effects. RESULTS: According to the SNAP-IV-C scores, the remission rate was 30.72%, and the recovery rate was 16.38%. Compared to short-acting IR-MPH, OROS-MPH was associated with greater functional improvement and treatment adherence among children with ADHD. CONCLUSION: OROS-MPH treatment at the adequate dosage can achieve higher remission and recovery rates, produce greater functional improvement, and result in better treatment adherence than IR-MPH treatment.
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Trastorno por Déficit de Atención con Hiperactividad/tratamiento farmacológico , Metilfenidato/uso terapéutico , Administración Oral , Adolescente , Niño , Preparaciones de Acción Retardada/uso terapéutico , Femenino , Humanos , Masculino , Cumplimiento de la Medicación/estadística & datos numéricos , Metilfenidato/administración & dosificación , Metilfenidato/efectos adversos , Metilfenidato/farmacocinética , Ósmosis , Escalas de Valoración Psiquiátrica/estadística & datos numéricos , Inducción de Remisión , TaiwánRESUMEN
AIM: To evaluate the surgical outcome of medial rectus (MR) recession with Y-splitting procedure in treatment of esotropia with convergence excess. METHODS: Medical records were retrospectively reviewed for those patients who underwent surgical treatment for their convergence excess esotropia (CEET) between January 2018 and December 2020. Refractive error was examined by the equipment of the VS100 (Welch Allyn). The surgical approach was bilateral MR recession with Y-splitting. The amount of recession was calculated according to the deviation angle at distance. Ocular movement and ocular alignment at distance and near were evaluated pre- and post-operatively. Binocular sensory status was evaluated by the Bagolini striated glasses at near and distance, and by stereoacuity assessment at near using the Titmus test. RESULTS: Six patients with CEET were included in this study. Four of them were hyperopia and two of them were myopia. A mean of eso-deviation angle at distance had been changed from 27.3±13.02 prism diopters (PD) preoperatively to 1.83±1.60 PD postoperatively (P<0.05), while a mean of eso-deviation angle at near had been changed from 50.00±20.74 PD preoperatively to 6.83±0.98 PD postoperatively (P<0.05). Patients had obtained binocular vision postoperatively. CONCLUSION: The surgical approach of Y-splitting MR and recession is effective in treatment of CEET.