Cochlear implant and autism spectrum disorder: a case report / Implante coclear e transtorno do espectro autista: relato de caso

ABSTRACT Autism Spectrum Disorder is not an adverse condition for cochlear implantation, but the goals and expectations about the effects on hearing and language outcomes are different from the group of children without other impairments. The objective of this study was to analyze the development of auditory and oral language skills of a child with autism who underwent early cochlear implantation surgery and was included in an auditory (re)habilitation program using the aural-oral method. There was no benefit from the device for the development of oral language, and the child was referred to another communicative method. After 2 years and 9 months using the cochlear implants, there was little benefit from the use of the device for the development of auditory skills, with the child evolving to recognize only his own name. The patient quit using the device after three years of its activation.

RESUMO O transtorno do espectro autista não é uma contraindicação para o implante coclear, mas as metas e expectativas sobre os efeitos nos resultados da audição e da linguagem são diferentes em relação ao grupo de crianças sem outros comprometimentos. O objetivo deste estudo foi analisar o desenvolvimento das habilidades auditivas e de linguagem falada de uma criança com transtorno do espectro autista submetida precocemente à cirurgia de implante coclear e inserida em um programa de (re)habilitação auditiva no método aurioral. Observou-se que não houve benefício do dispositivo para o desenvolvimento da linguagem falada, tendo a criança sido encaminhada para outro método comunicativo. Em 2 anos e 9 meses de uso do implante coclear, observou-se pouco benefício do uso do dispositivo para o desenvolvimento das habilidades auditivas, havendo a evolução para o reconhecimento somente do próprio nome. A criança deixou de fazer uso dos dispositivos após três anos da ativação.

Motor skills of children with autism spectrum disorder / Habilidades motoras de crianças com transtorno do espectro autista

Abstract The objective of this study is to describe variables of life habits associated with motor skills of children with autism spectrum disorder aged 8-10 years living in the city of Pelotas / RS. A questionnaire about lifestyle was applied and the Test of Gross Motor Development-2 (TGMD-2) was applied to assess motor skills. Independent T-test, ANOVA and Wilcoxon test were used to compare means. The study consisted of 49 individuals (42 males). The results indicate that the higher the level of ASD, the better the motor skills. Children making use of medications have greater deficits in motor skills. Higher scores on motor skills are associated with greater participation in physical education classes. Motor skills are strongly associated with independence in activities of the daily living, food, personal hygiene, dressing and bathing. The importance of the creation of PA programs aiming at improving the motor skills of this population was highlighted.

Resumo O objetivo deste estudo é descrever as variáveis de hábitos de vida associadas as habilidades motoras de crianças com transtorno do espectro autista de oito a 10 anos residentes na cidade de Pelotas/RS. Foi respondido um questionário sobre o estilo de vida e aplicado o Test of Gross Motor Development-2 (TGMD-2) para avaliação das habilidades motoras. Foi utilizado o teste T independente, ANOVA e teste de Wilcoxon para comparação de médias. Fizeram parte do estudo 49 indivíduos (42 do sexo masculino). Os resultados indicam que quando maior o grau de TEA, melhor são as habilidades motoras. As crianças que tomam medicamento apresentam maiores déficits nas habilidade motoras. Maiores escores nas habilidades motoras, estão associados a maior participação nas aulas de educação física. As habilidades motoras estão fortemente associadas a independência nas atividades de vida diária, alimentar-se, higiene pessoal, arrumar-se e banhar-se. Pode-se perceber a importância da criação de programas de AF visando a melhora nas habilidades motoras dessa população.

A Importância da Avaliação de Programas de Capacitação para Identifi cação dos Sinais Precoces do Transtorno do Espectro Autista - TEA / La Importância de la Evaluación de Programas de Formación para Identificación de los Signos Tempranos del Transtorno del Espectro Autista - TEA / The Importance of Evaluating Training Programs Aimed at the Identifi cation of Early Markers of Autism Spectrum Disorder (ASD)

Resumo Nos últimos anos, o conhecimento acerca das manifestações precoces do Transtorno do Espectro Autista (TEA) tem aumentado significativamente. Isso tem oportunizado à criança um benefício quanto à possibilidade de intervenções o mais cedo possível, as quais contribuem reduzindo o risco da manifestação mais grave dos sintomas e melhorando o prognóstico. No entanto, o diagnóstico tardio ainda é uma realidade mundial. Por esse motivo, desenvolver estratégas para o reconhecimento de sinais precoces tem sido considerado uma das prioridades na pesquisa em TEA, principalmente no contexto de saúde pública. Dessa forma, a presente pesquisa tem como objetivo construir uma linha de argumentação sobre a importância de se elaborar programas de capacitação em identificação precoce do TEA em saúde pública, ancorados nos seguintes fatores: (a) Identificação das diferenças de natureza qualitativa no curso do desenvolvimento sociocomunicativo e comportamental de crianças com suspeita de TEA; (b) consideração dos princípios da vigilância do desenvolvimento infantil articulados aos conceitos teóricos desenvolvimentistas e neurodesenvolvimentais e (c) avaliação do programa, com base na aplicação dos princípios de efetividade, no contexto das ciências humanas.

Resumen En los últimos años, el conocimiento acerca de las manifestaciones precoces del Trastorno del Espectro Autista (TEA) han aumentado significativamente. Esto ha posibilitado a los niños un beneficio cuanto la posibilidad de intervenciones lo más temprano posible, las cuales ayudan a reducir el riesgo de la manifestación más severa de los síntomas y mejoran el pronóstico. Por este motivo, desenvolver estrategias para el reconocimiento de las señales precoces ha sido considerada una de las prioridades en la pesquisa en TEA, principalmente en el contexto de la salud pública. Por lo tanto, esta investigación tiene como objetivo construir una línea de argumentación sobre la importancia de establecerse programas de capacitación en el reconocimiento precoz de los TEA en la salud pública, fondeados en los siguientes factores: (a) las diferencias de naturaleza cualitativa en curso del desarrollo socio-comunicativo de niños con sospechas de TEA; (b) consideración de los principios de vigilancia del desarrollo infantil y de la psicología del desarrollo humano,articulados con otros campos del conocimiento en la propuesta del programa,con una especial atención em los conceptos desarrollistas y neurodesarrollados (c) la evaluación del programa, basado de la aplicación de los principios de efectividad, en el contexto de las ciencias humanas.

Abstract In recent years, knowledge about the early manifestations of Autism Spectrum Disorder ASD has increased significantly. This has given children the potential benefit of receiving the earliest possible interventions, which contribute to reducing the risk of more serious manifestations of symptoms and to improving the prognosis. Nonetheless, late diagnosis is still a worldwide reality. For this reason, developing strategies for identifying early markers has been considered one of the priorities of ASD research, principally within the public health context. Accordingly, the present study's objective is to discuss the importance of developing training programs focused on early identification of ASD in public health, programs that are founded upon the following processes: (a) identification of qualitative differences in the social communication and behavioral development of children with suspected ASD; (b) consideration of developmental surveillance principles in conjunction with developmental and neurodevelopmental theoretical concepts; and (c) assessment of such programs' effectiveness within the context of the human sciences.

High functioning autism disorder: marital relationships and sexual offending / Transtorno do espectro do autismo de alto funcionamento: relacionamento conjugal e abuso sexual

ABSTRACT Objective To describe the implications of social inability as a factor that can contribute to sexual abuse in the marriage relationship of people with high-functioning autism spectrum disorder (ASD). Case description A 30-year-old male sought medical attention complaining of being "very nervous" and have difficulties in family relationships. He was diagnosed with high-functioning ASD based on the DSM-5. Married for over 4 years with a woman diagnosed with histrionic personality disorder (HPD), he asked for her to accompany him in the sessions and help him describe difficulties they had during sexual intercourse. His wife reported feeling raped in all of her sexual relations with the patient, especially when he could not understand that she did not want sex. Comments The case study leads us to believe that the social and communicative disability is a complicating factor that can contributes to the occurrence of sexual abuse in marital relationships with individuals with ASD. Social skills training, psychotherapy, and traditional medical therapies should be considered to minimize the risk of occurrence of cases of sexual abuse by individuals with high-functioning ASD against the spouses themselves.

RESUMO Objetivo Descrever implicações da inabilidade social como fator que pode contribuir para o abuso sexual no relacionamento conjugal de pessoas com transtornos do espectro do autismo de alto funcionamento (TEA de alto funcionamento). Descrição do caso Um homem de trinta anos procurou ajuda médica queixando-se de ser "muito nervoso" e ter dificuldades no relacionamento familiar. Foi diagnosticado com TEA de alto funcionamento com base no DSM-5. Casado há mais de quatro anos com uma mulher diagnosticada com transtorno de personalidade histriônica (TPH), pediu que ela o acompanhasse nas sessões para ajudá-lo a descrever suas dificuldades sexuais. A esposa relatou que se sentia estuprada em todas as relações sexuais com o paciente, especialmente quando ele não conseguia entender que ela não queria fazer sexo. Comentários Este caso nos leva a acreditar que a inabilidade social e de comunicação é um complicador que pode contribuir para a ocorrência de abuso sexual em relacionamentos conjugais de indivíduos com TEA de alto funcionamento. Treinamento de habilidades sociais, psicoterapia e terapias médicas tradicionais devem ser considerados para minimizar o risco de ocorrência de casos de abuso sexual praticados por indivíduos com TEA de alto funcionamento contra os próprios cônjuges.

Relationship between development of social skill and executive function and theory of mind in children and adolescents with autism / 中国心理卫生杂志

Objective:To explore the relationship between development of social skills and executive function and theory of mind in children and adolescents with autism.Methods:Forty-six children and adolescents with autism aged 6 to 17 years were recruited.The diagnosis was made according to the Diagnostic and Statistical Manual of Mental Disorder,Fourth Edition(DSM-Ⅳ),and severe mental disorders were excluded by the screening of the Schedule for Affective Disorders and Schizophrenia for School-Age children (K-SADS).The Rey Complex Figure Test (RCFT),Trail-Making Test,Verbal Fluency Test,Stroop Color-word Task,the First-Order Belief Test and the Second-Order Belief Test were used to assess executive function and theory of mind,and Social Response Scale (SRS) was used to assess social skills.The correlation between results of Executive Function and SRS was analyzed.The SRS scores between groups passing and without passing of First-Order Belief Test and Second-Order Belief were compared.Results:In the aspect of Executive Function,RCFT scores were positively correlated with autistic behavior factor score of SRS (r =0.31-0.41,Ps ＜ 0.05),meanwhile,immediate recall structure scores of RCFT were positively correlated with social motivation factor scores of SRS (r =0.30,P ＜ 0.05),delayed recall structure scores of RCFT were positively correlated with SRS total scores(r =0.34,P ＜ 0.05).In Stroop Colorword Task,errors of the first task were positively correlated with social cognitive factor scores of SRS (r =0.32,P ＜ 0.05).There were no correlation between other Executive Function results and SRS scores (r =-0.21-0.24,Ps ≥0.05).In the aspect of Theory of Mind,there was no significant difference in SRS scores between groups passing or without passing (t =-0.68-1.73,Ps ≥ 0.05).Conclusion:The development of social skill in children and adolescents with autism may have relationship withexecutive function,but have no relationship with the theory of mind.

Correlation between serum 25-hydroxyvitamin D level and core symptoms of autism spectrum disorder in children / 中华儿科杂志

Objective@#To explore the relationship between serum 25-hydroxyvitamin D levels and core symptoms of autism spectrum disorder (ASD) in children.@*Method@#In this cross-sectional study, ASD children 4 to 6 years of age who were diagnosed in Department of Developmental and Behavioral Pediatrics, First Hospital of Jilin university from January to May 2017 were assigned to ASD group, and children for routine growth and development assessment in Jilin province were assigned to control group. The two groups were well matched for age and sex, and none of them had received vitamin D supplementation. Serum 25-hydroxyvitamin D levels were measured by HPLC-MS/MS method. The patients of the ASD group were assessed with autism behavior checklist (ABC), childhood autism rating scale (CARS), social response scale (SRS), and autism treatment evaluation checklist (ATEC). The levels of vitamin D were divided into normal(>0.03 ng/L), insufficient (0.01-0.03 ng/L) and deficient (<0.01 ng/L). Levels of serum vitamin D between the two groups were compared by two independent sample t-test, and the difference in the percentages of normal, insufficient and deficient levels of vitamin D was tested by chi-square test, and correlations between vitamin D levels and the total scores or subscales of ABC, CARS, SRS and ATEC were analyzed by Pearson correlation analysis.@*Result@#The 87 subjects in the ASD group included 75 males and 12 females, with a mean (±SD) age of (4.7±0.7) years. The 301 subjects in the control group included 249 males and 52 females, with a mean (±SD) age of (4.8±0.8) years. Serum vitamin D level in ASD children was significantly lower than that of the control group ( (0.021±0.008) vs. (0.036±0.016) ng/L, t=-8.17, P<0.01), and the between-group percentage difference of normal, insufficient and deficient levels of vitamin D was statistically significant (12 (14%) vs. 186 (62%) , 67 (77%) vs. 113 (37%) , 8 (9%) vs. 2 (1%) , χ2=72.1, P<0.01). There were negative correlations between serum vitamin D level in ASD children and total ABC score or ABC subscale scores (body behavior, self-care, language and social interaction)(r=-0.531,-0.397,-0.283,-0.248,-0.262, P=0.000, 0.000, 0.007, 0.020, 0.014). There were negative correlations between serum vitamin D level in ASD children and total CARS score and CARS subscale scores (imitation, nonverbal communication and general impression) (r=-0.352, -0.216, -0.248, -0.216, P=0.001, 0.046, 0.021, 0.046). There were negative correlations between serum vitamin D level in ASD children and SRS behavior subscale or ATEC social interaction subscale (r=-0.536, P=0.005, r=-0.400, P=0.014).@*Conclusion@#Serum 25-hydroxyvitamin D level in children with ASD is obviously lower than that in the healthy control group, and there are negative correlations between vitamin D levels and core symptoms of ASD. Trial registration Chinese Clinical Trial Registry, ChiCTR-CCC-13004498.

Association between behavioral problems and gastrointestinal disorders among children with autism spectrum disorder / 中华儿科杂志

Objective@#To investigate the relationship between gastrointestinal disorders (GID) and core symptoms or behavioral problems among the children with autism spectrum disorder (ASD) .@*Method@#Totally 328 children with ASD and 202 normal controls were enrolled in this cross-sectional study from August 2013 to October 2016. The information about the gastrointestinal disorders, behavioral and emotional problems was collected by using questionnaires. Childhood Autism Rating Scale (CARS), Autism Behavior Checklist (ABC) were used to assess the core symptoms of the children with ASD. Neurodevelopmental status was evaluated with Gesell Developmental Scale (GDS). These variables were analyzed by using student's t-test and chi-square test.@*Result@#The prevalence of GID was significantly higher in the children with ASD than in the normally developing children (49.4% (162/328) vs.25.7% (52/202), χ2=29.039, P=0.000), especially the symptoms of constipation (33.2% (109/328) vs. 13.9% (28/202)), diarrhea (9.5%(31/328) vs. 1.5% (3/202)), nausea and vomiting (9.5% (31/328) vs. 3.5% (7/202)), and foul defecation (16.5% (54/328) vs. 5.0% (10/202)) (all P<0.05). Among the ASD children, the prevalence of GID was similar between male and female (46.7% (133/285) vs. 46.5%(20/43), χ2=0.006, P=0.938), as well as among all age groups (χ2=1.907, P=0.862). There was no significant difference in scores of GDS in the ASD children with or without GID (all P>0.05). Compared with ASD children without GID (n=166), the ASD children with GID (n=162) got higher scores in the "Body and Object Use" of ABC scale ( (16.4±9.3) vs. (12.3±6.7) scores, t=2.258, P=0.028), and had more emotional problems (63.6% (103/162) vs. 49.4% (82/166), χ2=6.707, P=0.010). Moreover, the score of behavior problems questionnaire was higher in the ASD children with GID ( (35.3±16.8) vs. (16.1±13.6) scores, t=5.748, P=0.000).@*Conclusion@#Children with ASD have higher risk of GID than the normal developing children. While the stereotyped behaviors, problem behaviors and emotional problems are severer in the ASD children with GID. Hence, it is important to provide comprehensive treatment and management for these groups of children.

Perfil escolar e as habilidades cognitivas e de linguagem de crianças e adolescentes do espectro do autismo / School profile and language and cognitive abilities of children and adolescents with autism spectrum disorders

RESUMO Objetivo verificar a correlação entre tempo de permanência semanal na escola, e o desempenho de crianças com Transtorno do Espectro do Autismo em teste de inteligência não verbal e em habilidades comunicativas e de comportamento. Métodos Participaram deste estudo 44 crianças e adolescentes, com idade entre 6 e 12 anos. Todos os participantes estão matriculados em escolas regulares. Resultados Dos 44 participantes, 20 não responderam ao teste de inteligência não verbal; assim, eles foram divididos em dois grupos: - Grupo A: 24 participantes avaliados quanto a desempenho em inteligência não verbal e habilidades comunicativas e de comportamento e Grupo B, com 20 participantes avaliados quanto às habilidades comunicativas e de comportamento. Os resultados mostraram, no Grupo A, correlação positiva significativa entre a frequência escolar e a inteligência não verbal, e correlação negativa significativa entre frequência escolar e as inabilidades em linguagem expressiva e pragmática/social. No que diz respeito ao Grupo B, houve tendência a correlações negativas em todas as relações, mas significância apenas com relação às inabilidades pragmática/social. Conclusão De forma geral os resultados de ambos os grupos indicam que crianças com melhores resultados em inteligência não verbal e melhores habilidades de comunicação e comportamento tendem a permanecer mais tempo na escola por semana.

ABSTRACT Purpose Verify the association between the time spent at school per week and the performance of children and adolescents with autism spectrum disorders in non-verbal intelligence test and communicative and behavioral abilities. Methods Participants were 44 children and adolescents aged 6 to 12 years. All participants were enrolled in regular schools. Results Of the 44 participants, 20 did not respond to the non-verbal intelligence test. Therefore, the participants were divided into two groups: Group 1 was composed of 24 participants who were assessed in non-verbal intelligence, behavior and communication abilities; Group B comprised 20 participants who were assessed in communication and behavior abilities. Results for Group A showed significant positive correlation between the time spent at school per week and non-verbal intelligence, and significant negative correlation regarding impairments in expressive language and social/pragmatic abilities. Results for Group B presented a tendency to negative correlations in all associations, with significant correlation only with respect to social pragmatics. Conclusion The overall results for both groups indicate that children with higher non-verbal intelligence scores and better communication and behavior abilities tend to spend more time at school per week.

Comparação entre o perfil escolar e as habilidades cognitivas e de linguagem de crianças e adolescentes do espectro do autismo / Comparison between the school profile and language and cognitive abilities of children and adolescents of the autism spectrum

O objetivo deste estudo foi verificar a correlação entre tempo de permanência semanal na escola, e o desempenho de crianças com Transtorno do Espectro do Autismo em teste de inteligência não verbal e em habilidades comunicativas e de comportamento. Participaram desse estudo 44 crianças e adolescentes, com idade entre 6 e 12 anos. O protocolo aplicado envolveu: um questionário para o levantamento do perfil escolar, um protocolo para levantamento da severidade das inabilidades comunicativas e de comportamento, e um teste de inteligência não verbal. Todos os participantes estão matriculados em escolas regulares. Dos 44 participantes, 20 não responderam ao teste de inteligência não verbal; assim, eles foram divididos em dois grupos: - Grupo A: 24 participantes avaliados quanto a desempenho em inteligência não verbal e habilidades comunicativas e de comportamento e Grupo B, com 20 participantes avaliados quanto às habilidades comunicativas e de comportamento. Os resultados mostraram, no Grupo A, correlação positiva significativa entre a frequência escolar e a inteligência não verbal, e correlação negativa significativa entre frequência escolar e as inabilidades em linguagem expressiva e pragmática/social. No que diz respeito ao Grupo B houve tendência a correlações negativas em todas as relações, mas significância apenas com relação às inabilidades pragmática/social. De forma geral os resultados de ambos os grupos indicam que crianças com melhores resultados em inteligência não verbal e melhores habilidades de comunicação e comportamento tendem a permanecer mais tempo na escola por semana. Apenas 41% dos participantes permaneciam na escola 100% do tempo previsto em cada semana. A discussão envolve a importância da efetiva inclusão para o desenvolvimento da criança e os instrumentos legais que garantem os direitos de todas as crianças a processos de escolarização adequados.

The purpose of this study was to verify the association of the time spent at school per week and the performance of children and adolescents of the autism spectrum in non-verbal intelligence test and communicative and behavior abilities. Participants were 44 children and adolescents with ages between 6 and 12 years. The protocol applied was: a questionnaire to the determination of the school profile, a protocol to the assessment of the severity of the impairments in communication and behavior and a test of non-verbal intelligence. All participants were enrolled in regular schools. Of the 44 participants, 20 didn't respond to the non-verbal intelligence test, therefore they were divided in two groups: Group 1: 24 participants, assessed in non-verbal intelligence, behavior and communication abilities and Group B, assessed in communication and behavior abilities. Results have shown, in Group A significant positive correlation between the time spent at school per week and non-verbal intelligence and significant negative correlation regarding impairments in expressive language and social/pragmatic abilities. In what refers to Group B there was a tendency to negative correlations in all associations but it was significant just regarding social pragmatics. The overall results to both groups indicate that children with higher non-verbal intelligence scores and better communication and behavior abilities tend to spend more time at school per week. Only 41% of the participants spent 100% of the predicted time at school every week. Discussion brings the focus to the notions regarding the importance of schooling to the child's development and the legal instruments that guarantee the rights of all children to receive adequate schooling processes.

Genetic research progress of syndromes with the comorbidity of epilepsy and autism / 国际儿科学杂志

No specific causative gene has been found for epilepsy or autism,while the co-occurrence rate of these two disorders is approximately 30％,suggesting potentially shared common mechanisms.A number of well-known genetic disorders share epilepsy and autism as prominent phenotypic features,including Rett syndrome,tuberous sclerosis,fragile X,and so on.A lot of gene mutations related with the development of nervous system,such as ARX,MECP2,usually associate with the prevalence of these syndromes.Gene mutations often disrupt synaptic plasticity,leading to protein adjusting spiral out of control,resulting in imbanlance of excitement and inhibition in brain,which develop a series of diseases.Mechanisms of early-life seizures and autism turn out to be in several levels,for gene mutations may lead to changes in both molecules and cells,resulting in intelligence and behavior abnormalities.Genetic research progress of syndromes with the comorbidity of epilepsy and autism are reviewed in this paper,in order to provide insight into their underlying pathophysiology and elucidate new therapeutic approaches of both conditions.