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1.
Children (Basel) ; 11(7)2024 Jul 16.
Artículo en Inglés | MEDLINE | ID: mdl-39062311

RESUMEN

BACKGROUND: Gluten- and casein-containing foods could aggravate the symptoms of children and adolescents with autism spectrum disorder (ASD), and subsequently impact their quality of life. However, there is a mixed opinion among researchers concerning the impact of alternative diet on reducing ASD symptoms. OBJECTIVE: This scoping review aimed at examining the impact of the "gluten-free, casein-free" (GFCF) diet on health outcomes and the quality of life among autistic children and adolescents. METHODS: A scoping review of the literature was performed following the Joanna Briggs Institute (JBI) guidelines. Four databases, including EbscoHost, Medline, CINAHL, and ProQuest, were used to obtain subject-specific studies relevant to the research question and published between July 2013 and March 2024. A comprehensive search using keywords such as "autism spectrum disorder", "gluten-free diet", and "casein-free diet" was conducted to obtain articles related to the research focus area. Only full-text, peer-reviewed, written in English articles were selected. Data extraction and data analysis were performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses-extension to Scoping Review (PRISMA-ScR) protocol. RESULTS: From the initial 586 studies, a total of 27 articles were included in the final analysis of the review. The thematic analysis included "GFCF diet and improvement of the core autistic symptoms", "the gut-brain link", "dietary interventions and autism", "possible side effects due to the GCFC diet", and "inconclusive studies and mixed opinions". A majority of the studies showed a positive effect of the GFCF diet on a variety of autistic symptoms, including positive changes in cognitive skills, behaviour, and gastrointestinal symptoms, while some showed conflicting evidence. CONCLUSIONS: The currently available evidence on the impact of the "GFCF" diet on the quality of life of autistic children and adolescents may warrant potentially effective interventions for alleviating symptoms of autism spectrum disorders. However, this scoping review highlights the need for more research to provide more reliable evidence on the health outcomes and quality of life of ASD sufferers to guide practice.

2.
Artículo en Inglés | MEDLINE | ID: mdl-38806093

RESUMEN

BACKGROUND: Modern neuroimaging methods have revealed that autistic symptoms are associated with abnormalities in brain morphology, connectivity, and activity patterns. However, the changes in brain microstructure underlying the neurobiological and behavioral deficits of autism remain largely unknown. METHODS: we characterized the associated abnormalities in intracortical myelination pattern by constructing cortical T1-weighted/T2-weighted ratio maps. Voxel-wise comparisons of cortical myelination were conducted between 150 children with autism spectrum disorder (ASD) and 139 typically developing (TD) children. Group differences in cortical T1-weighted/T2-weighted ratio and gray matter volume were then examined for associations with autistic symptoms. A convolutional neural network (CNN) model was also constructed to examine the utility of these regional abnormalities in cortical myelination for ASD diagnosis. RESULTS: Compared to TD children, the ASD group exhibited widespread reductions in cortical myelination within regions related to default mode, salience, and executive control networks such as the inferior frontal gyrus, bilateral insula, left fusiform gyrus, bilateral hippocampus, right calcarine sulcus, bilateral precentral, and left posterior cingulate gyrus. Moreover, greater myelination deficits in most of these regions were associated with more severe autistic symptoms. In addition, children with ASD exhibited reduced myelination in regions with greater gray matter volume, including left insula, left cerebellum_4_5, left posterior cingulate gyrus, and right calcarine sulcus. Notably, the CNN model based on brain regions with abnormal myelination demonstrated high diagnostic efficacy for ASD. CONCLUSIONS: Our findings suggest that microstructural abnormalities in myelination contribute to autistic symptoms and so are potentially promising therapeutic targets as well as biomarkers for ASD diagnosis.


Asunto(s)
Trastorno del Espectro Autista , Imagen por Resonancia Magnética , Vaina de Mielina , Humanos , Trastorno del Espectro Autista/diagnóstico por imagen , Trastorno del Espectro Autista/patología , Masculino , Niño , Femenino , Vaina de Mielina/patología , Imagen por Resonancia Magnética/métodos , Sustancia Gris/diagnóstico por imagen , Sustancia Gris/patología , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Corteza Cerebral/diagnóstico por imagen , Corteza Cerebral/patología , Neuroimagen/métodos , Adolescente
3.
Psychiatry Res Neuroimaging ; 341: 111822, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38678667

RESUMEN

Intelligent predictive models for autistic symptoms based on neuroimaging datasets were beneficial for the precise intervention of patients with ASD. The goals of this study were twofold: investigating predictive models for autistic symptoms and discovering the brain connectivity patterns for ASD-related behaviors. To achieve these goals, we obtained a cohort of patients with ASD from the ABIDE project. The autistic symptoms were measured using the Autism Diagnostic Observation Schedule (ADOS). The anatomical MRI datasets were preprocessed using the Freesurfer package, resulting in regional morphological features. For each individual, the interregional morphological network was constructed using a novel feature distance-based method. The predictive models for autistic symptoms were built using the support vector regression (SVR) algorithm with feature selection method. The predicted autistic symptoms (i.e., ADOS social score, ADOS behavior) were significantly correlated to the original measures. The most predictive features for ADOS social scores were located in the bilateral fusiform. The most predictive features for ADOS behavior scores were located in the temporal pole and the lingual gyrus. In summary, the autistic symptoms could be predicted using the interregional morphological connectivity and machine learning. The interregional morphological connectivity could be a potential biomarker for autistic symptoms.


Asunto(s)
Trastorno del Espectro Autista , Imagen por Resonancia Magnética , Humanos , Trastorno del Espectro Autista/diagnóstico por imagen , Trastorno del Espectro Autista/fisiopatología , Trastorno del Espectro Autista/patología , Masculino , Imagen por Resonancia Magnética/métodos , Femenino , Niño , Adolescente , Adulto Joven , Máquina de Vectores de Soporte , Adulto , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Encéfalo/fisiopatología
4.
Int J Mol Sci ; 24(13)2023 Jun 27.
Artículo en Inglés | MEDLINE | ID: mdl-37445914

RESUMEN

Animals are required to handle daily massive amounts of information in an ever-changing environment, and the resulting memories and experiences determine their survival and development, which is critical for adaptive evolution. However, intrinsic forgetting, which actively deletes irrelevant information, is equally important for memory acquisition and consolidation. Recently, it has been shown that Rac1 activity plays a key role in intrinsic forgetting, maintaining the balance of the brain's memory management system in a controlled manner. In addition, dysfunctions of Rac1-dependent intrinsic forgetting may contribute to memory deficits in neurological and neurodegenerative diseases. Here, these new findings will provide insights into the neurobiology of memory and forgetting, pathological mechanisms and potential therapies for brain disorders that alter intrinsic forgetting mechanisms.


Asunto(s)
Encefalopatías , Memoria , Animales , Trastornos de la Memoria , Encéfalo
5.
J Autism Dev Disord ; 53(3): 901-917, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34813033

RESUMEN

Despite showing effects in well-controlled studies, the extent to which early intensive behavioral intervention (EBI) produces positive changes in community-based settings remains uncertain. Thus, our study examined changes in autistic symptoms and adaptive functioning in 233 children with autism receiving EBI in a community setting. The results revealed nonlinear changes in adaptive functioning characterized by significant improvements during the intervention and a small linear decrease in autistic symptoms from baseline to follow-up. The intensity of intervention, initial age, IQ and autistic symptoms were associated either with progress during the intervention or maintenance during the follow-up. The next step to extend this line of research involves collecting detailed data about intervention strategies and implementation fidelity to produce concrete recommendations for practitioners.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Humanos , Niño , Terapia Conductista/métodos , Intervención Educativa Precoz/métodos , Incertidumbre
6.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-988723

RESUMEN

ObjectiveTo explore the association between daily executive function and core symptoms, the symptoms of attention deficit hyperactivity disorder (ADHD) in children with autism spectrum disorder (ASD), and the moderating effect of theory of mind and other cognitive abilities on this association. MethodsChildren aged 6-12 years with ASD were recruited, and 86 children were identified according to the inclusion and exclusion criteria. Wechsler Intelligence Test for Children, Fourth Edition (WISC-Ⅳ), Strange Story Test (SST) and Behavior Rating Inventory of Executive Function (BRIEF) were used to evaluate children's cognitive ability. Swanson Nolan and Pelham-Version Ⅳ Scale (SNAP-Ⅳ), Social Responsiveness Scale (SRS), and Repetitive Behavior Scale-Revise (RBS-R) were used to assess the severity of ADHD symptoms, social impairment, and repetitive stereotyped behavior. Multiple linear regression was used to explore the association between daily executive function and ADHD symptoms, social impairment, repetitive stereotyped behaviors. ResultsAfter controlling for the score of strange stories, verbal comprehension index (VCI) and other factors, the full scale score and each index of BRIEF were positively correlated with full scale score of SNAP (b = 0.619-0.741, b’ = 0.637-0.755), SRS (b = 0.928-1.200, b’ = 0.417-0.513) and RBS-R (b = 0.326-0.525, b’ = 0.339-0.520) in children with ASD (P< 0.05), and the SNAP total score was more strongly correlated with the full scale BRIEF score and each index score (b’ = 0.637-0.755,P< 0.01). In addition to daily executive function, strange stories score (b = -2.218- -1.839) and age (b = 3.181-4.037) were also the important factors affecting the social function of children with ASD (P< 0.01). There were no moderating effects of strange stories score and age on the association between BRIEF score and full scale score of SNAP, SRS, and RBS-R(P> 0.05). ConclusionThe deficits of daily executive function in school-aged ASD children are significantly associated with core symptoms and ADHD symptoms, and the association is independent of other cognitive domains, such as theory of mind and verbal comprehension intelligence quotient.

7.
Front Psychiatry ; 13: 957876, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36032222

RESUMEN

Down Syndrome (DS) is the most common chromosome abnormality and the most frequent cause of developmental delay/intellectual disabilities in children. Although the investigation of the quality of life (QoL) is crucial in children with DS, relatively poor attention has been paid to this topic. The current study aimed to evaluate parent-reported QoL in a group of children with DS and identify children's individual and clinical features associated with different levels of QoL. We included in the study 73 children with DS (5-12 years) and investigated the parent-reported levels of QoL by means of the Pediatric Quality of Life Inventory. Cognitive level and the presence of behavioral difficulties were also evaluated. The overall parent-reported QoL of children with DS was high; emotional functioning was the domain with the highest level of QoL. Moreover, parents perceived low levels of QoL in children who exhibited low IQ, worse analogical reasoning, worse adaptive skills, more frequent challenging behaviors, more ritualistic/sameness behavior and more autistic symptoms. No differences emerged for family variables, namely parental education and employment, between the two groups with high and low QoL, as perceived by parents. The understanding of cognitive and behavioral factors - such as analogical reasoning, socio-communication abilities and challenging behaviors - related with different degrees of QoL in children with DS is crucial for the development of effective strategies to promote the improvement of the QoL.

8.
Aust N Z J Psychiatry ; 56(7): 818-827, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-34376088

RESUMEN

OBJECTIVES: Functional disruption is a main feature of schizophrenia and still represents a major treatment challenge. A more in-depth identification of functional predictors is crucial for the creation of individualized rehabilitation treatments, which can translate into better functional outcomes. In this study, we aimed at pinpointing specific domains that affect different functional profiles, using a data-driven approach. METHODS: We included a comprehensive evaluation of functional predictors, namely demographic, cognitive, sociocognitive and clinical variables, with a focus on constituent subdomains of autistic symptoms that have been associated with functioning in the recent literature. RESULTS: In 123 schizophrenia patients, a two-step cluster analysis identified two groups of patients with different functional profiles (low vs high functioning). A backward stepwise logistic regression analysis showed that the odds of being a member of the high functioning group are significantly higher for individuals with (1) more years of education, (2) better Theory of Mind abilities, (3) higher levels of stereotypies/narrowed interests, (4) lower difficulties in social interaction, (5) lower communication difficulties and with (6) being male. CONCLUSION: Findings raise the intriguing possibility that stereotypic behaviors may have a beneficial effect on functioning in schizophrenia. While the underlying mechanism is currently unknown, we hypothesize that patients may benefit from contexts in which more predictive relationships between environmental entities can systematically be established. This study underscores the potential utility of routinely assessing autistic symptomatology in schizophrenia, which can be instrumental in identifying novel therapeutic targets that can be utilized to improve daily functioning.


Asunto(s)
Esquizofrenia , Teoría de la Mente , Femenino , Humanos , Masculino , Esquizofrenia/terapia , Psicología del Esquizofrénico
9.
BMC Psychiatry ; 21(1): 464, 2021 09 23.
Artículo en Inglés | MEDLINE | ID: mdl-34556056

RESUMEN

BACKGROUND: Several studies have indicated that self-stigma is associated with depressive symptoms and could be a barrier to recovery in patients with schizophrenia-spectrum disorders. More recently, an association between autistic symptoms and self-stigma was found in schizophrenia-spectrum patients. This study aimed to investigate the association between self-stigma, autistic and depressive symptoms, and recovery in patients with schizophrenia. METHODS: In total, 105 participants were evaluated using the Autism Spectrum Quotient, the Internalized Stigma of Mental Illness Scale, the Quick Inventory of Depressive Symptomatology, and the Recovery Assessment Scale to investigate autistic symptoms, self-stigma, depressive symptoms, and recovery, respectively. The relationship between self-stigma, autistic symptoms, depressive symptoms, and recovery was assessed using structural equation modeling analysis. RESULTS: Impaired attention switching, one symptom of autism, was found to positively affect stereotype endorsement, which negatively influenced recovery through depressive symptoms. Moreover, problems with communication skills negatively affected recovery through depressive symptoms. Concerning self-stigma, stereotype endorsement and perceived discrimination had a negative effect on recovery through depressive symptoms, whereas stigma resistance had a direct negative effect on recovery. CONCLUSIONS: This study may provide meaningful insight into the psychological structure of recovery and could inform effective interventions for patients with schizophrenia-spectrum disorders. This was a cross-sectionally designed study; therefore, further longitudinal studies are needed to identify the causal relationships between self-stigma, autistic and depressive symptoms, and recovery.


Asunto(s)
Trastorno Autístico , Esquizofrenia , Estudios Transversales , Depresión/complicaciones , Humanos , Esquizofrenia/complicaciones , Psicología del Esquizofrénico , Autoimagen , Estigma Social
10.
Front Psychiatry ; 12: 675902, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34421670

RESUMEN

Objective: To investigate the current status of screen time in children with ASD, its correlation with autistic symptoms and developmental quotient (DQ), and the factors affecting screen time. Method: One hundred ninety-three Chinese children with ASD were recruited. We collected the demographic and screen time data using a questionnaire. The ASD core symptoms and developmental quotient (DQ) were measured by the Autism Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS), Autism Diagnostic Observation Schedule-Second Edition (ADOS-2), Griffiths Development Scales-Chinese Language Edition (GDS-C), and Chinese Children's Parent-Child Relationship Questionnaire (CPCIS). Then, we analyzed the correlations between the screen time of children with ASD and the ABC, CARS, ADOS, GDS-C DQs, and CPCIS scores. Linear regression was used to analyze the risk factors that affect screen time. Results: The children's average daily screen time was 2.64 ± 2.24 h. Forty eight percent children were exposed to two or more types of electronic devices. Their favorite activity of screen time was watching cartoons. Only 34% children spent screen time accompanied by parents and with communication. 50.26% children had no screen time before sleeping. The screen time of children with ASD had a negative correlation with the GDS-C CQ (r = -0.234, P = 0.001) and the CPCIS score (r = -0.180, P = 0.012) and a positive correlation with the CARS score (r = 0.192, P = 0.009). A low father's education level (P = 0.010), less restriction of the child's screen time by the guardian (P = 0.001), greater caregiver screen time (P < 0.001), the use of the screen as a tool for child rearing (P = 0.001), and the child's ownership of independent electronic equipment (P = 0.027) are risk factors for long screen time in children with ASD. Conclusion: The screen time of children with ASD in China is higher than the recommended standard, and the current situation is serious. The screen time of ASD children is related to their autism symptoms, DQ and parent-child interaction. Low paternal education levels, less restriction of children's screen time by guardians, greater guardian screen time, the use of screens in child rearing, and children's ownership of independent electronic equipment can lead to an increase in children's screen time. These findings may have implications for family intervention strategies.

11.
J Psychiatr Res ; 137: 48-54, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33652326

RESUMEN

BACKGROUND: Impairments in daily functioning characterize both autism spectrum disorder and schizophrenia. Research has shown that a subsample of schizophrenia patients presents autistic symptoms, leading to the hypothesis that their co-occurrence would be associated with a 'double dose' of deficit. A growing body of research examined this hypothesis by looking at the joint effect of autistic and positive psychotic symptoms, and yielded contrasting results, ranging from benefits to adverse effects. We hypothesized that the interactive effect of autistic and positive symptoms on functioning in schizophrenia might depend on the patients' symptom severity. METHOD: In 170 schizophrenia patients, a two-step cluster analysis identified two groups of patients with different levels of autistic and positive symptom severity. Using general linear models, we examined the interactions of groups, autistic and positive symptoms on functioning. RESULTS: Autistic and positive symptoms were interactively associated with better functioning, but only in the symptomatically less severe patients. In contrast, autistic and positive symptoms were independently associated with worse functioning in the symptomatically more severe patients. These associations were observed above and beyond the effects of I.Q. and illness duration. CONCLUSIONS: The findings highlight the complex role played by co-occurring autistic symptoms in schizophrenia, whose beneficial effects on functioning appear to depend on patients' psychopathological severity. Our findings may help to reconcile the seemingly contrasting results from previous studies, and to understand the heterogeneity of behavior and functional outcomes in schizophrenia. This study underscores the potential utility of routinely assessing autism in schizophrenia, in order to better formulate individualized rehabilitative programs.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Trastornos Psicóticos , Esquizofrenia , Trastorno Autístico/complicaciones , Trastorno Autístico/epidemiología , Humanos , Psicopatología , Trastornos Psicóticos/complicaciones , Esquizofrenia/complicaciones , Esquizofrenia/epidemiología
12.
J Neurosci Rural Pract ; 12(1): 200-203, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33531784

RESUMEN

Background Autism is a neurodevelopmental disorder and can be early detected with the aid of screening tools. Chandigarh autism screening instrument (CASI) is a newly developed tool to screen autistic symptoms among children aged between 1.5 to 10 years in the north Indian Hindi speaking population. Objective In this study, we evaluated the caregiver report of autistic symptoms in preschool children (3-6 years) attending selected schools of Rohtak. Materials and Methods The index study was conducted among 225 caregivers of school-going children aged between 3 to 6 years. Social and communication disorders checklist (SCDC-Hindi) and CASI was used to measure autistic symptoms. The modified Kuppuswamy scale was used for assessing the socioeconomic status of the caregivers. Results The autistic symptoms varied from 2.2 to 18.7%, depending upon the CASI (cutoff score of 10) and SCDC (cutoff score of 9) measurements. The items in the shorter four-item version (CASI Bref) of CASI were found to be the predictors of autistic symptoms in this population. Children's gender, age, and socioeconomic status were not found to have any association with autistic symptoms in this setting. Conclusion The study provides preliminary evidence in relation to the CASI-linked screening for autistic symptoms among preschool children. The shorter version of CASI (CASI Bref) can be an efficient quick screener for autistic traits, but the full version of CASI needs to be validated as per age-appropriate autism screening tools.

13.
J Autism Dev Disord ; 51(2): 527-537, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32519191

RESUMEN

This study examined whether child autistic symptoms would heighten parental affective symptoms through evoking enacted stigma from the community (i.e., public and courtesy stigma) and felt stigma within the parents (i.e., vicarious and self-stigma). Cross-sectional questionnaire data were collected from 441 parents of children with autism spectrum disorder. Path analyses showed that social communication and interaction deficits and restricted and repetitive behaviors in child autism were positively associated with public and courtesy stigma. While public stigma was positively associated with parental vicarious stigma, courtesy stigma was positively associated with parental self-stigma. Both vicarious and self-stigma were positively associated with depressive and anxiety symptoms among parents. Findings revealed how child autism could compromise parental well-being through exacerbating the family's stigmatizing experiences.


Asunto(s)
Ansiedad/psicología , Trastorno del Espectro Autista/psicología , Depresión/psicología , Padres/psicología , Estigma Social , Adulto , Ansiedad/epidemiología , Trastorno del Espectro Autista/epidemiología , Niño , Preescolar , China/epidemiología , Estudios Transversales , Depresión/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios
14.
Neuropsychiatr Dis Treat ; 16: 2553-2561, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33154642

RESUMEN

PURPOSE: Self-stigma negatively influences self-esteem, quality of life, self-efficacy, treatment adherence, and recovery in psychiatric patients. By revealing personality traits that influence self-stigma, we can gain useful knowledge for the management of self-stigma. A previous meta-analysis indicated that patients with schizophrenia have higher scores on the Autism-Spectrum Quotient (AQ) than healthy controls. However, the relationship between autistic symptoms and self-stigma in patients with schizophrenia spectrum disorders remains unclear. Therefore, the present study aimed to reveal the association between autistic symptoms and self-stigma in patients with schizophrenia spectrum disorders. PATIENTS AND METHODS: We recruited 127 patients with schizophrenia spectrum disorders (schizophrenia, schizoaffective disorder, and delusional disorder). We assessed participants' self-stigma and autistic symptoms using the Internalized Stigma for Mental Illness (ISMI) scale and the Autism-Spectrum Quotient (AQ), respectively. The differences in the scores of ISMI and AQ according to patient characteristics were investigated. Multiple regression analysis controlling for age and gender was performed to determine the relationship between the total scores on the AQ and IMSI scale. RESULTS: Female patients showed a higher level of self-stigma than males. Unmarried patients showed a significantly higher score on the AQ than married patients. Multiple regression analysis adjusted for age and gender indicated that the total score on AQ might be a predictor of the overall rating on ISMI in patients with schizophrenia spectrum disorders. CONCLUSION: This study is the first to reveal the association between autistic symptoms and self-stigma in patients with schizophrenia spectrum disorders. Our results highlight the importance of considering autistic symptoms in the assessment and management of self-stigma in patients with schizophrenia spectrum disorders.

15.
Ital J Pediatr ; 42(1): 70, 2016 Jul 22.
Artículo en Inglés | MEDLINE | ID: mdl-27448796

RESUMEN

BACKGROUND: The clinical and pathogenetic heterogeneity of Autism Spectrum Disorders (ASD) limits our ability to predict its short- and long-term evolution. Aim of this naturalistic study was to observe the clinical evolution of very young children with ASD for 12 months after first diagnosis, in order to identify those children who might develop a more positive trajectory and understand how a wide range of biological, clinical and familial factors can influence prognosis. METHODS: Ninety-two children were characterized in terms of family history, prenatal and perinatal variables, and clinical conditions. The sample was divided into four subgroups based on the association of 22 biological, clinical and family history variables. Developmental Quotient (DQ), determined using the Psychoeducational Profile Revised (PEP-R), and symptoms severity, measured by means of the Autism Diagnostic Observation Schedule (ADOS), were evaluated at baseline (T0) and after one year (T1), while receiving treatment as usual. Changes in DQ and ADOS between baseline and follow-up and differences in the short-term evolution of the four subgroups were analyzed. RESULTS: At T1, 55.4 % of the children demonstrated some gains either of autistic symptomatology or of developmental skills. Mean ADOS score was 13.63 ± 3.67 at T0 and 10.85 ± 4.10 at T1 and mean DQ was 0.64 ± 0.14 at T0 and 0.66 ± 0.15 at T1. At follow-up, 33.7 % of the children showed an improvement in DQ and 37 % presented a less severe symptomatology, measured by means of ADOS. Overall, 15.2 % of the sample displayed major improvements both on developmental quotient and ADOS severity score; these children presented less EEG abnormalities and familial psychiatric disorders. The four subgroups, based on biological, clinical and familial variables, showed differing trends in terms of evolution. CONCLUSIONS: Categorizing very young children with ASD in terms of biological, clinical and familial variables can be instrumental in predicting short-term evolution. This exploratory study highlights the importance of a precise characterization and thorough analysis of interactions among biological and clinical variables, in order to predict the developmental evolution in children with ASD.


Asunto(s)
Trastorno del Espectro Autista/diagnóstico , Evolución Biológica , Diagnóstico Precoz , Factores de Edad , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/terapia , Preescolar , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Lactante , Estudios Longitudinales , Masculino , Pruebas Neuropsicológicas , Medición de Riesgo , Muestreo , Índice de Severidad de la Enfermedad , Factores Sexuales , Factores de Tiempo
16.
Mol Genet Metab Rep ; 6: 41-47, 2016 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-26918231

RESUMEN

OBJECTIVES: Our goal was to describe the neurobehavioral phenotype in mucopolysaccharidosis Type IIIB (MPS IIIB). Parents report that behavioral abnormalities are a major problem in MPS III posing serious challenges to parenting and quality-of-life for both patient and parent. Our previous research on MPS IIIA identified autistic symptoms, and a Klüver-Bucy-type syndrome as indicated by reduced startle and loss of fear associated with amygdala atrophy. We hypothesized that MPS IIIB would manifest similar attributes when assessed with the same neurobehavioral protocol. METHODS: Ten patients with MPS IIIB were compared with 9 MPS IIIA patients, all older than 6. 8 younger children with Hurler syndrome (1H) were chosen as a comparison group for the Risk Room procedure; MPS IH does not directly affect social/emotional function and these younger children were closer to the developmental level of the MPS IIIB group. To examine disease severity, cognitive ability was assessed. Four evaluations were used: the Risk Room procedure (to measure social-emotional characteristics, especially fear and startle responses), the Autism Diagnostic Observation Schedule (ADOS), the Sanfilippo Behavior Rating Scale (SBRS), and amygdala brain volumes calculated from manually-traced MRI images. RESULTS: The two groups are equivalent in severity and show severe cognitive impairment. On the ADOS, the MPS IIIB patients exhibited the same autistic features as IIIA. The IIIB means differed from MPS IH means on most measures. However, the IIIB group did not approach the Risk Room stranger, like the MPS IH group who kept their distance, but unlike the IIIA group who showed no fear of the stranger. On the SBRS, the MPS IIIB patients were described as more inattentive and more fearful, especially of new people than the MPS IIIA. Onsets of some disease characteristics appeared more closely spaced and slightly earlier in MPS IIIB than IIIA. CONCLUSIONS: On most behavioral measures, MPS IIIB patients did not differ substantially from MPS IIIA patients over age six, demonstrating autistic features and a Klüver Bucy-like syndrome including lack of fear and poor attention. Delay in onset of behavioral symptoms was associated with later diagnosis in two patients. Lack of fear, poor attention, and autistic-like symptomatology are as characteristic of MPS IIIB as they are of MPS IIIA. A possible difference is that the some behavioral abnormalities develop more quickly in MPS IIIB, If this is so, these patients may become at risk for harm and present a challenge for parenting even earlier than do those with MPS IIIA. .In future clinical trials of new treatments, especially with respect to quality of life and patient management, improvement of these behaviors will be an essential goal. Because very young patients were not studied, prospective natural history documentation of the early development of abnormal behaviors in MPS IIIB is needed.

17.
Environ Toxicol Pharmacol ; 38(3): 1016-24, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25461563

RESUMEN

AIM: Autism is a developmental disability characterized by severe deficits in social interaction and communication. The definite cause of autism is still unknown. The aim of this study is to find out the relation between exposure to Lead and/or mercury as heavy metals and autistic symptoms, dealing with the heavy metals with chelating agents can improve the autististic symptoms. METHOD: Blood and hair samples were obtained from 45 children from Upper Egypt with autism between the ages of 2 and 10 years and 45 children served as controls in the same age range, after taken an informed consent and fill a questionnaire to assess the risk factors. The samples were analyzed blindly for lead and mercury by using atomic absorption and ICP-MS. Data from the two groups were compared, then follow up of the autistic children after treatment with chelating agents were done. RESULTS: The results obtained showed significant difference among the two groups, there was high level of mercury and lead among those kids with autism. Significant decline in the blood level of lead and mercury with the use of DMSA as a chelating agent. In addition, there was decline in the autistic symptoms with the decrease in the lead and mercury level in blood. CONCLUSION: Lead and mercury considered as one of the main causes of autism. Environmental exposure as well as defect in heavy metal metabolism is responsible for the high level of heavy metals. Detoxification by chelating agents had great role in improvement of those kids.


Asunto(s)
Trastorno Autístico/inducido químicamente , Trastorno Autístico/tratamiento farmacológico , Quelantes/administración & dosificación , Plomo/toxicidad , Mercurio/toxicidad , Succímero/administración & dosificación , Trastorno Autístico/sangre , Estudios de Casos y Controles , Quelantes/farmacología , Niño , Preescolar , Contaminantes Ambientales , Femenino , Humanos , Plomo/sangre , Masculino , Mercurio/sangre , Factores de Riesgo , Succímero/farmacología , Encuestas y Cuestionarios , Resultado del Tratamiento
18.
Clin Genet ; 84(6): 572-6, 2013 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23347273

RESUMEN

This study utilized developmental profiling to examine symptoms in 14 girls with genetically confirmed Rett syndrome and whose families were participating in the Australian Rett syndrome or InterRett database. Regression was mostly characterized by loss of hand and/or communication skills (13/14) except one girl demonstrated slowing of skill development. Social withdrawal and inconsolable crying often developed simultaneously (9/14), with social withdrawal for shorter duration than inconsolable crying. Previously acquired gross motor skills declined in just over half of the sample (8/14), mostly observed as a loss of balance. Early abnormalities such as vomiting and strabismus were also seen. Our findings provide additional insight into the early clinical profile of Rett syndrome.


Asunto(s)
Discapacidades del Desarrollo/diagnóstico , Fenotipo , Regresión Psicológica , Síndrome de Rett/diagnóstico , Síndrome de Rett/genética , Edad de Inicio , Australia , Preescolar , Bases de Datos Factuales , Femenino , Humanos , Lactante , Mutación , Síndrome de Rett/epidemiología
19.
Pan Afr Med J ; 13: 65, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23346279

RESUMEN

INTRODUCTION: There is a critical gap in Autistic Spectrum Disorders (ASD) research with respect to manifestations of the condition in developing countries This study examined the influence of sociodemographic variables on the severity of autistic symptoms and behavioral profile in Arab children. METHODS: The total study sample comprised of 60 Arab children (38 boys and 22 girls) from three Arab countries (22 Jordanians, 19 Saudis and 19 Egyptians). The diagnosis of Autism Spectrum Disorders (ASD) was based on DSM-IV criteria supplemented by direct observation according to the Indian Scale for Assessment of Autism (ISAA) and assessment of Intelligent Quotient (IQ). Finally, parents rated their child on the Achenbach Child Behavior Checklist (CBCL). RESULTS: It was found that the housewives and Saudi parents described more autistic symptoms and externalizing behavior problems. A significant negative correlation was found between IQ and each of ISAA, CBCL Internalizing and Externalizing problems scores. CONCLUSION: The study concluded that the clinical presentation of ASD may be shaped by cultural factors that are likely to help to formulate specific diagnosis and intervention techniques in Arab children with ASD.


Asunto(s)
Árabes/estadística & datos numéricos , Trastornos Generalizados del Desarrollo Infantil/epidemiología , Adolescente , Niño , Trastornos Generalizados del Desarrollo Infantil/etnología , Preescolar , Egipto/epidemiología , Femenino , Accesibilidad a los Servicios de Salud/estadística & datos numéricos , Humanos , Jordania/epidemiología , Masculino , Padres , Arabia Saudita/epidemiología , Factores Socioeconómicos
20.
Artículo en Coreano | WPRIM (Pacífico Occidental) | ID: wpr-150988

RESUMEN

OBJECTIVES: This study was conducted to examine the prevalence and characteristics of savant skills and the relationship between the savant skills and autistic symptoms in Korean ASD children. METHODS: 141 ASD subjects participated in this study and they were divided in to two groups based on the presence or lack of savant skills. The domain scores and total scores of the K-ADI-R, K-ASDS and SRS were used for evaluating the ASD symptoms between the groups. RESULTS: Memory (n=47) was the most prevalent savant skill in the savant ASD group (n=60). The savant ASD group had a statistically higher mean age and IQ score than did the nonsavant ASD group. Despite their high IQ profile, the savant ASD group showed a higher restricted, repetitive and stereotype behavior score on the K-ADI-R and higher language and cognitive scores on the K-ASDS than did the nonsavant ASD group. CONCLUSIONS: These results suggest savant syndrome in ASD might be related to the severity of some subdomain of autistic symptoms even though their IQ scores were higher than nonsavant ASD patients.


Asunto(s)
Niño , Humanos , Trastorno Autístico , Trastorno del Espectro Autista , Memoria , Prevalencia
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