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Introducción: Existen pocos estudios sobre la evolución del retraso global del desarrollo (RGD), por lo que se cuestiona su valor pronóstico. Objetivo: Describir la evolución cognitiva en la edad escolar de niños con diagnóstico inicial de RGD. Pacientes y Métodos: Estudio observacional, transversal, con análisis prospectivo y retrospectivo. Fueron incluidos niños de seis a once años de edad, con diagnóstico previo de RGD. La variable punto final fue la presencia o no del déficit cognitivo (menor a dos desvíos estándares en las pruebas cognitivas), se realizó análisis con el paquete estadístico R. Resultados: Se estudiaron 150 pacientes con diagnóstico inicial de RGD, 86 con compromiso leve y 64 moderado-severo. El déficit cognitivo persistió en 75 pacientes (50%), 34.8% en el grupo leve y 70.3% en el moderado-severo Del resto, un 13% tuvo rendimiento promedio, un 20%, limítrofe y el 17% perfil discrepante. El análisis univariado identificó cuatro factores de riesgo asociados a persistencia del compromiso cognitivo: el grado de compromiso inicial moderado/severo (OR 4,59, 2,24-9,78), el tiempo de tratamiento menor a tres años (OR 2,30 1,02-5,34), las necesidades básicas insatisfechas (OR 1,62 0,76-3,47) y la presencia de síndrome genético (OR 2,99 1,09-8,99). El modelo de regresión logística con mayor poder explicativo incluyó estas cuatro variables (p 0.9998). Conclusiones: La trayectoria cognitiva mostró un 50 % de persistencia del déficit cognitivo. El grado de compromiso inicial, la duración del tratamiento, las necesidades básicas insatisfechas y la presencia de un síndrome genético asociado mostraron asociación con la persistencia del mismo (AU)

Introduction: Studies on the outcome of global developmental delay (GDD) are scarce, and therefore, their prognostic value is questionable. Objective: To describe the cognitive outcome at school age of children initially diagnosed with GDD. Patients and Methods: Cross-sectional, observational study with a prospective and retrospective analysis. Children between six and 11 years of age with a previous diagnosis of GDD were included. The endpoint variable was the presence or not of a cognitive deficit (two standard deviations below the mean on cognitive tests). Analyses were performed using the R Statistical Software. Results: 150 patients with an initial diagnosis of GDD were studied, 86 with mild and 64 with moderate-to-severe involvement. The cognitive deficit persisted in 75 patients (50%); 34.8% of whom were in the mild and 70.3% in the moderate-to-severe group. Of the remaining patients, performance was average in 13%, borderline in 20%, and the profile was discrepant in 17%. Univariate analysis identified four risk factors associated with persistence of the cognitive deficit: initial moderate-to-severe degree of the deficit (OR 4.59, 2.24-9.78), treatment duration less than three years (OR 2.30, 1.02-5.34), unsatisfied basic needs (OR 1.62, 0.76- 3.47), and presence of a genetic syndrome (OR 2.99, 1.09-8.99). The logistic regression model with the strongest explanatory power included these four variables (p 0.9998). Conclusions: In 50% the cognitive course showed a persistent cognitive deficit. The degree of initial compromise, treatment duration, unsatisfied basic needs, and presence of a genetic syndrome were associated with persistence of the deficit. (AU)

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A growing amount of research indicates that abnormalities in the gastrointestinal (GI) system during development might be a common factor in multiple neurological disorders and might be responsible for some of the shared comorbidities seen among these diseases. For example, many patients with Autism Spectrum Disorder (ASD) have symptoms associated with GI disorders. Maternal zinc status may be an important factor given the multifaceted effect of zinc on gut development and morphology in the offspring. Zinc status influences and is influenced by multiple factors and an interdependence of prenatal and early life stress, immune system abnormalities, impaired GI functions, and zinc deficiency can be hypothesized. In line with this, systemic inflammatory events and prenatal stress have been reported to increase the risk for ASD. Thus, here, we will review the current literature on the role of zinc in gut formation, a possible link between gut and brain development in ASD and other neurological disorders with shared comorbidities, and tie in possible effects on the immune system. Based on these data, we present a novel model outlining how alterations in the maternal zinc status might pathologically impact the offspring leading to impairments in brain functions later in life.

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Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These CNVs exhibit variable clinical expressivity and those at 15q11-q13 and 16p11.2 also show incomplete penetrance. In the present work, through multiplex ligation-dependent probe amplification (MLPA) analysis of 531 ethnically admixed ASD-affected Brazilian individuals, we found that the combined prevalence of the 15q11-q13, 16p11.2 and 22q13 CNVs is 2.1% (11/531). Parental origin could be determined in 8 of the affected individuals, and revealed that 4 of the CNVs represent de novo events. Based on CNV prediction analysis from genome-wide SNP arrays, the size of those CNVs ranged from 206 kb to 2.27 Mb and those at 15q11-q13 were limited to the 15q13.3 region. In addition, this analysis also revealed 6 additional CNVs in 5 out of 11 affected individuals. Finally, we observed that the combined prevalence of CNVs at 15q13.3 and 22q13 in ASD-affected individuals with epilepsy (6.4%) was higher than that in ASD-affected individuals without epilepsy (1.3%; p<0.014). Therefore, our data show that the prevalence of CNVs at 15q13.3, 16p11.2 and 22q13 in Brazilian ASD-affected individuals is comparable to that estimated for ASD-affected individuals of pure or predominant European ancestry. Also, it suggests that the likelihood of a greater number of positive MLPA results might be found for the 15q13.3 and 22q13 regions by prioritizing ASD-affected individuals with epilepsy.

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Purpose: To assess any changes in the Functional Communicative Profile (FCP) and in the Social Cognitive Performance (SCP) of children with Autism Spectrum Disorders, based on two short periods of intervention. Methods: The study was conducted with 21 children with Autism Spectrum Disorder diagnoses, randomly allocated into two groups, who received the same short-term intervention types (6 weeks with the mother and 6 weeks with the support of an educational software program). The intervention process was conducted by speech-language pathologists who were part of a graduate program in this area. Results: Samples of 15-minute interaction sessions between the child and speech-language pathologist were used to assess the changes in the FCP and the SCP. The statistic analysis pointed out differences only in Group 1 for the variables “percentage of communicative space used” and “use of the mediating object”. Conclusion: With the intervention sessions structured over 12 weeks, it was possible to observe a few changes in the children's FCP and in the SCP. Therefore, we point out the need for new research studies of longer duration. .

OBJETIVO: Avaliar mudanças no Perfil Funcional da Comunicação (PFC) e no Desempenho Sócio-Cognitivo (DSC) de crianças com Distúrbios do Espectro do Autismo (DEA) a partir de dois períodos curtos de intervenção. MÉTODOS: O estudo foi realizado com 21 crianças com diagnóstico incluído nos DEA, que foram divididas aleatoriamente em dois grupos (G1 e G2) que receberam os mesmos modelos de intervenção em curto prazo (presença da mãe e apoio do software educacional) durante seis semanas cada um. O trabalho de intervenção foi conduzido por fonoaudiólogas que cursavam o programa de pós-graduação na área. RESULTADOS: Partindo de filmagens de 15 minutos de interação entre terapeuta e paciente, foram mensuradas as mudanças no PFC e no DSC; a análise estatística indicou diferenças significativas apenas no G1, nas variáveis "porcentagem do espaço comunicativo utilizado" e "uso do objeto mediador". CONCLUSÃO: Com a estrutura de intervenção em 12 semanas, foi possível observar poucas mudanças no PFC e no DSC, de forma que o estudo sugere novas pesquisas com a duração mais longa. .

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Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by a combination of reciprocal social deficits, communication impairment, and rigid ritualistic interest and stereotypies. The etiology is generally multifactorial, including genetic, immunological and/or environmental factors. A group of ASD has been linked to mitochondrial dysfunction with subsequent deficiency in energy production. Patients with ASD and mitochondrial disease often show signs and symptoms uncommon to idiopathic ASD such as cardiac, pancreatic or liver dysfunction, cardiac, growth retardation, fatigability, but in some cases semiology is different. We show two clinical cases of ASD associated to a deficiency of the mitochondrial respiratory chain (complex I+III and IV) with different clinical presentations. In one case, signs and symptoms of mitochondrial disorder were mild and the second diagnosis was attained many years after that of ASD. These findings support the recent growing body of evidence that ASD can be associated with mitochondrial disorder. Children with ASD and abnormal neurologic or systemic findings should be evaluated for mitochondrial disorder.

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OBJECTIVE: To prospectively assess the prevalence of autism spectrum disorder (ASD) symptoms in children presenting with functional defecation disorders. STUDY DESIGN: Children (age 4-12 years) with functional constipation or functional non-retentive fecal incontinence according to the Rome III criteria referred to a specialized outpatient clinic were included. Parents completed 2 validated ASD screening questionnaires about their child; the Social Responsiveness Scale (SRS) and the Social Communication Questionnaire-Lifetime (SCQ-L). A total SRS score of ≥ 51 is a strong indicator for the presence of ASD. On the SCQ-L, a score of ≥ 15 is suggestive for ASD. RESULTS: In total, 242 patients (130 males, median age 7.9 years) were included. Of these, 91% were diagnosed with functional constipation and 9% with functional non-retentive fecal incontinence. Thirteen children (5.4%) had previously been diagnosed with ASD. Twenty-six children (11%) had both SRS and SCQ-L scores at or above cutoff points, strongly suggestive for the presence of ASD. Solely high SRS were present in 42 children (17%), whereas two children (1%) only had high SCQ-L scores. Altogether, 29% had ASD symptoms, indicated by SRS and/or SCQ-L scores at or above the cutoff values. These children were older than children without ASD symptoms and presented with a longer duration of symptoms. CONCLUSIONS: A substantial number of children (29%) presenting with a functional defecation disorder at a tertiary hospital has concomitant ASD symptoms. Clinicians should be aware of ASD symptoms in children with functional defecation disorders.

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PURPOSE: To investigate the relationship between language regression and the subsequent social-communicative development of preschool children with Autism Spectrum Disorder (ASD). METHODS: Thirty children with ASD participated in the study and were divided into two groups: with (n=6) and without (n=24) language regression. Language regression was assessed by the Autism Diagnostic Interview-Revised and the social-communicative development was measured by the Autism Diagnostic Observation Schedule. RESULTS: Of the 30 children who met the criteria for participation in this study, six (20%) had regression of oral language skills, with a mean age of onset of 25 months. There were no statistical significant differences in the social-communicative development between the groups with and without language regression. CONCLUSION: The findings of this research do not seem to confirm the relationship between the occurrence of language regression and the subsequent impairment on social-communicative development of children with ASD.

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PURPOSE: To assess any changes in the Functional Communicative Profile (FCP) and in the Social Cognitive Performance (SCP) of children with Autism Spectrum Disorders, based on two short periods of intervention. METHODS: The study was conducted with 21 children with Autism Spectrum Disorder diagnoses, randomly allocated into two groups, who received the same short-term intervention types (6 weeks with the mother and 6 weeks with the support of an educational software program). The intervention process was conducted by speech-language pathologists who were part of a graduate program in this area. RESULTS: Samples of 15-minute interaction sessions between the child and speech-language pathologist were used to assess the changes in the FCP and the SCP. The statistic analysis pointed out differences only in Group 1 for the variables "percentage of communicative space used" and "use of the mediating object". CONCLUSION: With the intervention sessions structured over 12 weeks, it was possible to observe a few changes in the children's FCP and in the SCP. Therefore, we point out the need for new research studies of longer duration.

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OBJETIVO: Investigar a relação entre a ocorrência de regressão da linguagem e o desenvolvimento sociocomunicativo posterior de crianças pré-escolares com Transtorno do Espectro do Autismo (TEA). MÉTODOS: Participaram do estudo 30 crianças com TEA, divididas em dois grupos: com (n=6) e sem regressão da linguagem (n=24). A regressão da linguagem foi avaliada com base na Autism Diagnostic Interview-Revised e o desenvolvimento sociocomunicativo a partir do Autism Diagnostic Observation Schedule. RESULTADOS: Das 30 crianças que preencheram os critérios para participação neste estudo, seis (20%) apresentaram regressão das habilidades de linguagem oral, com uma média de idade de 25 meses no início da perda. No que se refere ao desenvolvimento sociocomunicativo, não foram observadas diferenças estatisticamente significativas, entre os grupos com e sem regressão da linguagem. CONCLUSÃO: Os resultados desta pesquisa parecem não confirmar a relação entre a ocorrência de regressão da linguagem e o comprometimento posterior do desenvolvimento sociocomunicativo de crianças com TEA.

PURPOSE: To investigate the relationship between language regression and the subsequent social-communicative development of preschool children with Autism Spectrum Disorder (ASD). METHODS: Thirty children with ASD participated in the study and were divided into two groups: with (n= 6) and without (n= 24) language regression. Language regression was assessed by the Autism Diagnostic Interview-Revised and the social-communicative development was measured by the Autism Diagnostic Observation Schedule. RESULTS: Of the 30 children who met the criteria for participation in this study, six (20%) had regression of oral language skills, with a mean age of onset of 25 months. There were no statistical significant differences in the social-communicative development between the groups with and without language regression. CONCLUSION: The findings of this research do not seem to confirm the relationship between the occurrence of language regression and the subsequent impairment on social-communicative development of children with ASD.

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Anatomical and functional brain studies have converged to the hypothesis that autism spectrum disorders (ASD) are associated with atypical connectivity. Using a modified resting-state paradigm to drive subjects' attention, we provide evidence of a very marked interaction between ASD brain functional connectivity and cognitive state. We show that functional connectivity changes in opposite ways in ASD and typicals as attention shifts from external world towards one's body generated information. Furthermore, ASD subject alter more markedly than typicals their connectivity across cognitive states. Using differences in brain connectivity across conditions, we ranked brain regions according to their classification power. Anterior insula and dorsal-anterior cingulate cortex were the regions that better characterize ASD differences with typical subjects across conditions, and this effect was modulated by ASD severity. These results pave the path for diagnosis of mental pathologies based on functional brain networks obtained from a library of mental states.

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