Global developmental delay and epileptic encephalopathy caused by SPTAN1 gene mutations in 3 cases and literature review / 中华神经科杂志

Objective:To summarize the clinical manifestations, gene variations,and treatment of cases with SPTAN1 gene variations characterized by global developmental delay or epileptic encephalopathy. Methods:Three patients with SPTAN1 gene mutations which caused developmental epileptic encephalopathy type 5 admitted to the Department of Pediatrics, Xiangya Hospital, Central South University from August 2019 to September 2021 were collected. The studies till December 2021 were searched with keywords of " SPTAN1" and "developmental and epileptic encephalopathy 5" in both English and Chinese databases of China National Knowledge Infrastructure, Wanfang, Online Mendelian Inheritance in Man, and PubMed. The clinical manifestations, genetic variations, treatments and prognosis of patients with SPTAN1 gene variations were summarized. Results:All 3 patients presented with global developmental delay, infant onset. Patient 1 showed early-onset epileptic encephalopathies and microcephaly. Patient 2 had an atrial septal defect. Cranial magnetic resonance imaging (MRI) of patient 3 showed cerebellar hypoplasia.Antiepileptic seizure therapy was partially effective, but failed to control the spasm. Development was slightly improved after rehabilitation training and other treatments, but still lagged behind the children of the same age. The SPTAN1 gene mutations of the 3 cases were heterozygous mutations, c.6923_6928dup, c.6619_6621delGAG and c.6749T>C, respectively. c.6749T>C was not reported in the previous literature. Thirteen case reports, including 69 patients, were collected. Sixty-seven patients had heterozygous mutations, inherited in an autosomal dominant fashion, including 35 missense mutations, 12 deletion mutations, 11 repetition mutations, 9 nonsense mutations, and the rest 2 patients had compound heterozygous missense mutations. A total of 38 different variation sites were reported. The phenotypes of 69 patients from the previous studies mainly included intellectual impairment (32/69), seizures (30/69), developmental delay (28/69), progressive microcephaly (27/69), hypotonia (23/69), poor visual attention (15/69), spastic quadriplegia (9/69), and gastrointestinal abnormalities (7/69). The primary type of seizures was epileptic spasm. Cranial MRI abnormalities mainly included cerebellar and brainstem atrophy, corpus callosum dysplasia, myelin dysplasia, and brain atrophy. Previous reports showed that a variety of anti-seizure drugs were effective for epileptic seizures. The prognosis varied greatly. Severe cases could be fatal, and mild cases only manifested as mild mental retardation or movement disorders. Conclusions:SPTAN1 gene mutation leads to developmental epileptic encephalopathy type 5, the phenotypes of which include intellectual impairment, global developmental delay, infantile spasms, and head deformity.Antiepileptic drugs and functional training can improve the symptoms, but the prognosis is still poor. This study expands the SPTAN1 gene variant spectrum, enriches the mutant spectrum of SPTAN1 gene associated with developmental epileptic encephalopathy type 5.

Early diagnosis of autism and other developmental disorders, Brazil, 2013-2019 / Diagnóstico precoce do autismo e outros transtornos do desenvolvimento, Brasil, 2013-2019

ABSTRACT OBJECTIVE To investigate the factors associated with the early diagnosis of autism and other types of pervasive developmental disorder (PDD) in children treated at the Psychosocial Care Center for Children and Adolescents of the Unified Health System, from 2013 to 2019,in Brazil. METHODS An exploratory cross-sectional study, based on data from the Record of Outpatient Health Actions (RAAS) of the first appointment of children aged 1 to 12 years. The gross (RRg) and adjusted (RRa) relative risks and respective 95% confidence intervals (95%CI) were estimated using the Poisson regression model with robust variance estimation. RESULTS Of the 22,483 children included in the study, the majority were male (81.9%), lived in the same municipality where they were diagnosed (96.8%) and in the Southeast region (57.7%). Early diagnosis was higher for childhood autism (RRg = 1.48; 95%CI 1.27-1.71) , PDD without subtype designation (RRg = 1.55; 95%CI 1.34-1.80), other PDD (RRg = 1.48; 95%CI 1.21-1.81) and PDD not otherwise specified (RRg = 1.44; 95%CI 1.22-1.69) than for atypical autism. Children residing in the same municipality where the diagnosis was made had a higher rate of early diagnosis (RRg = 1.31; 95%CI 1.10-1.55) than the others; as well as those referred by primary care (RRg = 1.51; 95%CI 1.37-1.68) and by spontaneous demand (RRg = 1.45; 95%CI 1.31-1.61) than those from other types of referral. Early diagnosis was higher from 2014 and lower in the North region than in the other regions. In the multiple analysis, the magnitude of RRa was similar to that of RRg. CONCLUSIONS Early identification of autism and other PDD has improved in Brazil, but it still represents about 30% of the diagnoses made. The variables included in the model were significant, but still explain little of the early diagnosis of children with autism and other PDD.

RESUMO OBJETIVO Investigar os fatores associados ao diagnóstico precoce do autismo e de outros tipos de transtorno global do desenvolvimento (TGD) de crianças atendidas no Centro de Atenção Psicossocial Infantojuvenil do Sistema Único de Saúde, no período de 2013 a 2019, no Brasil. MÉTODOS Estudo transversal exploratório, com base nos dados do Registro das Ações Ambulatoriais de Saúde (RAAS) do primeiro atendimento de crianças de 1 a 12 anos. Foram estimados o risco relativo bruto (RRb) e ajustado (RRa), e respectivo intervalo de confiança de 95% (IC95%), utilizando o modelo de regressão de Poisson com estimativa de variância robusta. RESULTADOS Das 22.483 crianças incluídas no estudo, a maioria era do sexo masculino (81,9%), residia no mesmo município em que foi diagnosticada (96,8%) e na região Sudeste (57,7%). O diagnóstico precoce foi maior para autismo infantil (RRb= 1,48; IC95% 1,27-1,71), TGD sem designação de subtipo (RRb= 1,55; IC95% 1,34-1,80), outros TGD (RRb= 1,48; IC95% 1,21-1,81) e TGD não especificado (RRb= 1,44; IC95% 1,22-1,69) do que para autismo atípico. As crianças que residiam no mesmo município onde foi realizado o diagnóstico tiveram maior índice de diagnóstico precoce (RRb= 1,31; IC95% 1,10-1,55) do que as demais; bem como aquelas encaminhadas pela atenção básica (RRb= 1,51; IC95% 1,37-1,68) e por demanda espontânea (RRb= 1,45; IC95% 1,31-1,61) do que as oriundas de outros tipos de encaminhamento. O diagnóstico precoce foi maior a partir de 2014 e menor na região Norte quando comparada às demais. Na análise múltipla, a magnitude do RRafoi similar ao do RRb. CONCLUSÕES A identificação precoce de autismo e outros TGD tem melhorado no país, mas ainda representa cerca de 30% dos diagnósticos realizados. As variáveis incluídas no modelo foram significativas, mas ainda explicam pouco do diagnóstico precoce de crianças com autismo e outros TGD.

Rehabilitation Treatment of Medulloblastoma in a Patient with Pervasive Developmental Disorder（Autism Spectrum Disorder） / The Japanese Journal of Rehabilitation Medicine

We provided inpatient rehabilitation treatment and return-to-school guidance to a junior high school student with medulloblastoma and pervasive developmental disorder (autism spectrum disorder). Here we describe the rehabilitation treatment for patients with physical and developmental disabilities. A 13-year-old boy who was diagnosed with pervasive developmental disorder at 4 years of age was able to perform activities of daily living independently and attend junior high school. However, he was admitted to our hospital with new-onset ataxia. Magnetic resonance imaging revealed a cerebellar tumor. After total tumor excision was performed, pathological analysis revealed medulloblastoma, which was treated initially with radiation therapy and then chemotherapy for 1 year. Rehabilitation was initiated 2 days post-surgery. We evaluated his communication abilities. He showed stereotypical behavior owing to the autism spectrum disorder；therefore, we performed low-intensity repetitive exercises. The functional independence measure score at discharge was 67/126 (motor 44/91, cognitive 23/35). We taught his teachers how to properly assist him, and he successfully returned to school post-discharge. Although this was a case in which the child had multiple disabilities, ataxia caused by the medulloblastoma aggravated his developmental disability. Thus, understanding the characteristics of communication and its strengths was vital in determining a treatment plan that enabled his return to school.

Rehabilitation Treatment of Medulloblastoma in a Patient with Pervasive Developmental Disorder（Autism Spectrum Disorder） / The Japanese Journal of Rehabilitation Medicine

We provided inpatient rehabilitation treatment and return-to-school guidance to a junior high school student with medulloblastoma and pervasive developmental disorder (autism spectrum disorder). Here we describe the rehabilitation treatment for patients with physical and developmental disabilities. A 13-year-old boy who was diagnosed with pervasive developmental disorder at 4 years of age was able to perform activities of daily living independently and attend junior high school. However, he was admitted to our hospital with new-onset ataxia. Magnetic resonance imaging revealed a cerebellar tumor. After total tumor excision was performed, pathological analysis revealed medulloblastoma, which was treated initially with radiation therapy and then chemotherapy for 1 year. Rehabilitation was initiated 2 days post-surgery. We evaluated his communication abilities. He showed stereotypical behavior owing to the autism spectrum disorder；therefore, we performed low-intensity repetitive exercises. The functional independence measure score at discharge was 67/126 (motor 44/91, cognitive 23/35). We taught his teachers how to properly assist him, and he successfully returned to school post-discharge. Although this was a case in which the child had multiple disabilities, ataxia caused by the medulloblastoma aggravated his developmental disability. Thus, understanding the characteristics of communication and its strengths was vital in determining a treatment plan that enabled his return to school.

Fatores associados ao desenvolvimento infantil em crianças brasileiras: linha de base da avaliação do impacto do Programa Criança Feliz / Factors associated infant development in Brazilian children: baseline of the impact assessment of the Happy Child Program / Factores asociados al desarrollo infantil en niños brasileños: base de referencia para la evaluación del impacto del Programa Niño Feliz

Resumo: O objetivo deste artigo foi avaliar os fatores socioeconômicos, familiares e individuais associados ao desenvolvimento infantil no primeiro ano de vida, entre famílias em vulnerabilidade social. Trata-se de uma análise transversal, com dados da linha de base de um ensaio randomizado. O estudo incluiu 3.242 crianças < 12 meses de idade, residentes em 30 municípios de cinco regiões do Brasil. A escolha de estados e municípios foi intencional, tendo como base a implementação do Programa Criança Feliz. A amostra foi selecionada a partir de crianças elegíveis para o Programa Criança Feliz, cujo objetivo é promover a estimulação e o desenvolvimento infantil. O Ages and Stages Questionnaire (ASQ) foi utilizado para avaliação do desenvolvimento infantil. Um modelo de análise multinível em três níveis (estado, município e indivíduos), usando teste de Wald para heterogeneidade e tendência linear, estimou a média do ASQ-3 e intervalo de 95% de confiança (IC95%). Análises foram ajustadas para potenciais confundidores. Foram analisadas informações de 3.061 (94,4%) crianças com dados disponíveis para ASQ-3. Escores de desenvolvimento infantil (total e em todos os domínios) foram cerca de 12% menores em crianças nascidas pré-termo e com restrição do crescimento intrauterino (pequenas para idade gestacional). Observou-se menores escores em filhos de mães com baixa escolaridade, com sintomas de depressão, com duas ou mais crianças menores de sete anos residindo no domicílio e que não relataram autopercepção de apoio/ajuda durante a gestação. Conclui-se que características potencialmente modificáveis (escolaridade, depressão materna e prematuridade/restrição do crescimento intrauterino) apresentaram maior impacto na redução do escore de desenvolvimento em todos os domínios avaliados.

Abstract: The study aimed to assess socioeconomic, family, and individual factors associated with infant development (i.e., in the first year of life) among families with social vulnerability. This was a cross-sectional analysis of baseline data from a randomized trial. The study included 3,242 children < 12 months of age living in 30 municipalities from five regions of Brazil. The choice of states and municipalities was intentional, based on the implementation of the Brazilian Happy Child Program. The sample was selected among eligible children for the Brazilian Happy Child Program, and the objective was the promotion of infant development. The Ages and Stages Questionnaire (ASQ) was used to assess infant development. A three-level analytical model (state, municipality, and individuals), using the Wald test for heterogeneity and linear trend, estimated the mean ASQ-3 and 95% confidence interval (95%CI). The analyses were adjusted for potential confounders. Information was analyzed for 3,061 (94.4%) children with available data for ASQ-3. Infant development scores (total and in all the domains) were some 12% lower in preterm children and those with intrauterine growth restriction (small for gestational age). Lower scores were seen in children of mothers with low schooling, depressive symptoms, two or more children under seven years of age living in the household, and who did not report self-perceived support or help during the pregnancy. In conclusion, potentially modifiable characteristics (schooling, maternal depression, and prematurity/intrauterine growth restriction) showed greater impact on reducing the infant development score in all the target domains.

Resumen: El objetivo fue evaluar los factores socioeconómicos, familiares e individuales, asociados al desarrollo infantil en el primer año de vida, entre familias con vulnerabilidad social. Se trata de un análisis transversal, con datos de la base de referencia de un ensayo aleatorio. El estudio incluyó a 3.242 niños < 12 meses de edad, residentes en 30 municipios de cinco regiones de Brasil. La elección de estados y municipios fue intencional, considerando como base la implementación del Programa Niño Feliz. La muestra se seleccionó a partir de niños elegibles para el Programa Niño Feliz, cuyo objetivo es promover la estimulación y el desarrollo infantil. Se utilizó el Ages and Stages Questionnaire (ASQ) para la evaluación del desarrollo infantil. Un modelo de análisis multinivel en tres niveles (estado, municipio e individuos), usando el test de Wald para la heterogeneidad y tendencia lineal, estimó la media del ASQ-3 y el intervalo de 95% de confianza (IC95%). Los análisis se ajustaron para potenciales factores de confusión. Se analizó información de 3.061 (94,4%) niños con datos disponibles para ASQ-3. Las puntuaciones de desarrollo infantil (total y en todos los dominios) fueron cerca de un 12% menores en niños nacidos pretérmino y con restricción del crecimiento intrauterino (pequeños para la edad gestacional). Se observaron menores puntuaciones en hijos de madres con baja escolaridad, con síntomas de depresión, con dos o más niños menores de siete años residiendo en el domicilio y que no informaron autopercepción de apoyo/ayuda durante la gestación. Se concluye que las características potencialmente modificables (escolaridad, depresión materna y prematuridad/restricción del crecimiento intrauterino) presentaron un mayor impacto en la reducción de la puntuación de desarrollo en todos los dominios evaluados.

Quality of life, perceived stress and caregiver burden in mothers of children with childhood psychiatric disorders in Kerala, India

Background: Common childhood psychiatric problems like attention deficit hyperkinetic disorder (ADHD), Pervasive developmental disorder (PDD) and learning disability (LD) often co-exists with each other and form a constellation of behavioural manifestations that require extra attention from the caregivers. Having a differentially-abled child is challenging and most parents have to learn to restructure their lives around that of the child. There is a difference in the attitudes of both the parents as far as parenting a disabled child is concerned. Mothers often shoulder the primary caregiving role however the psychological costs borne by women go unrecognized. The study aims to assess the care giver burden (BOC) and perceived stress (PS) and quality of life (QOL) in mothers of children with ADHD, PDD and LD.Methods: It was a cross-sectional study with 336 child mother pairs. The mothers were asked to rate their burden and stress symptoms on the perceived stress scale and Burden of care scale. The mothers were also asked to rate their quality of life on the quality of life scale.Results: The mean PS score was highest in the PDD group. The mean BOC was lowest in the LD group. The QOL score was highest in the LD group.  There is statistically significant difference in the PS, BOC and QOL scores among the three groups.Conclusions: There is a hidden lacuna of psychological stress in mothers of children with common psychiatric problems. The study also establishes that these mothers have poorer quality of life. It is necessary to address these psychological issues of the mother at every visit and equip them with coping strategies so that they can look after both themselves and their special needs child.

A Validation Study of the Korean Child Behavior Checklist 1.5-5 in the Diagnosis of Autism Spectrum Disorder and Non-Autism Spectrum Disorder

OBJECTIVES: The purpose of this study was to analyze the discriminant validity and the clinical cut off scores of the Child Behavior Checklist 1.5-5 (CBCL 1.5-5) in the diagnosis of autism spectrum disorder (ASD) and non-ASD. METHODS: In total, 104 ASD and 441 non-ASD infants were included in the study. T-test, discriminant analysis, receiver operating characteristic (ROC) curve analysis, and odds ratio analysis were performed on the data. RESULTS: The discriminant validity was confirmed by mean differences and discriminant analysis on the subscales of Emotionally reactive, Somatic complaints, Withdrawn, Sleep problems, Attention problems, Aggressive behavior, Internalizing problems, Externalizing problems, and Total problems, along with the Diagnostic and Statistical Manual of Mental Disorders (DSM)-oriented scales between the two groups. ROC analysis showed that the following subscales significantly separated ASD from normal infants: Emotionally reactive, Somatic complaints, Withdrawn, Sleep problems, Attention problems, Aggressive behavior, Internalizing problems, Externalizing problems, Total problems, and DSM pervasive developmental problems. Moreover, the clinical cut off score criteria adopted in the Korean-CBCL 1.5-5 were shown to be valid for the subscales Withdrawn, Internalizing problems, Externalizing problems, Total problems, and DSM pervasive developmental problems. CONCLUSION: The subscales of Withdrawn, Internalizing problems, Externalizing problems, Total problems, and DSM pervasive developmental problems significantly discriminated infants with ASD.

Dysfunctions in the socio emotional development of infants and its related factors: an integrative review / Disfunciones en el desarrollo socioemocional de lactantes y sus factores relacionados: una revisión integrativa / Disfunções no desenvolvimento socioemocional de lactentes e seus fatores relacionados: uma revisão integrativa

ABSTRACT Objective: to synthesize factors related to dysfunctions in the socioemotional development of infants. Method: integrative review carried out between April and August 2016 with defined criteria for inclusion and exclusion of studies, search strategies, extraction and synthesis of data. The exposure factors underwent categorical thematic analysis and systematization according to the levels of the context (Microsystem, Mesosystem, Exosystem and Macrosystem) of the Bioecological Model of Human Development. Results: in the context of the Microsystem and Mesosystem, the factors found were: limitations in care; adversities in family relationships and in the social support and illness situation of the caregivers that influence the proximal processes. In the Exosystem and the Macrosystem, they were: social vulnerabilities of caregivers and fragilities of public policies that determine the material and social conditions of the family. Conclusion: the synthesis of evidence on exposure factors favors the construction of measurement scales of the contextual elements related to the social emotional development of young children. Beyond the milestones, present or not, in the evaluation of a child, these technologies can be predictive, with great potential of anticipation of the factors of exposure and prevention of developmental dysfunctions.

RESUMEN Objetivo: sintetizar los factores relacionados con las disfunciones en el desarrollo socioemocional de los lactantes. Método: revisión integrativa realizada entre abril y agosto de 2016 con criterios definidos de inclusión y exclusión de los estudios, estrategias de búsqueda, extracción y síntesis de los datos. Los factores de exposición sufrieron análisis temáticos categorial y sistematización según los niveles del contexto (Microsistema, Mesosistema, Exossistema y Macrosistema) del modelo bioecológico de desarrollo humano. Resultados: en el contexto del Microsistema y Mesosistema, los factores encontrados fueron: limitaciones en el cuidado; adversidades en las relaciones familiares y en el apoyo social y situación de enfermedad de los cuidadores que influyen en los procesos proximales. En el Exossistema y en el Macrosistema, fueron: vulnerabilidades sociales de los cuidadores y fragilidades de las políticas públicas, que determinan las condiciones materiales y sociales de la familia. Conclusión: la síntesis de evidencias sobre los factores de exposición favorece la construcción de escalas de medida de los elementos contextuales relacionados al desarrollo socioemocional de niños pequeños. Mucho más allá de los marcos, presentes o no en la evaluación de un niño, esas tecnologías pueden ser predictivas, con gran potencial de anticipación de los factores de exposición y de prevención de las disfunciones en el desarrollo.

RESUMO Objetivo: sintetizar os fatores relacionados às disfunções no desenvolvimento socioemocional dos lactentes. Método: revisão integrativa realizada entre abril e agosto de 2016 com critérios definidos de inclusão e exclusão dos estudos, estratégias de busca, extração e síntese dos dados. Os fatores de exposição sofreram análise temática categorial e sistematização segundo os níveis do contexto (Microssistema, Mesossistema, Exossistema e Macrossistema) do Modelo Bioecológico de Desenvolvimento Humano. Resultados: no contexto do Microssistema e Mesossistema, os fatores encontrados foram: limitações no cuidado; adversidades nas relações familiares e no apoio social e situação de adoecimento dos cuidadores que influem nos processos proximais. No Exossistema e no Macrossistema, foram: vulnerabilidades sociais dos cuidadores e fragilidades das políticas públicas, que determinam as condições materiais e sociais da família. Conclusão: a síntese de evidências sobre os fatores de exposição favorece a construção de escalas de medida dos elementos contextuais relacionados ao desenvolvimento socioemocional de crianças pequenas. Muito além dos marcos, presentes ou não, na avaliação de uma criança, essas tecnologias podem ser preditivas, com grande potencial de antecipação dos fatores de exposição e de prevenção das disfunções no desenvolvimento.

Diagnostic Accuracy of International Epidemiology Network (INCLEN) Diagnostic Tool for Autism Spectrum Disorder (INDT-ASD) in Comparison with Diagnostic and Statistical Manual of Mental Dis- orders-5 (DSM-5)

Objective: To compare the diagnostic accuracy of INCLEN Diagnostic Tool for AutismSpectrum Disorder (INDT-ASD) against Diagnostic and Statistical Manual of MentalDisorders – 5 (DSM-5) for the diagnosis of Autism Spectrum Disorder (ASD). Methods: 118children aged 2-9 years with symptoms suggestive of ASD were assessed by INDT-ASDand DSM-Vby trained personnel. ASD diagnosis by INDT-ASD was compared against theexpert’s DSM-5 diagnosis. Results: INDT-ASD had a sensitivity and specificity of 100% and75%, respectively against DSM-5 for the diagnosis of ASD; specificity for Autistic Disorderwas 87%. Conclusion: The INDT-ASD has a good sensitivity and specificity against DSM-5,and can continue to be used for the diagnosis of ASD even after the adoption of DSM-5criteria

Trastorno del espectro autista: caracterización clínica en pacientes de dos centros de referencia en bogotá, colombia / Autism spectrum disorder: clinical characterization of patients at two reference centers in bogotá, colombia / Transtorno do espectro autista: caracterização clínica em pacientes de dois centros de referência em bogotá, colômbia

Resumen Introducción. Los pacientes con trastornos del espectro autista (TEA) presentan gran heterogeneidad en sus características comportamentales, cognitivas, médicas y psiquiátricas. En nuestro medio, no existe una descripción de tales variables. Si bien otros estudios han descrito un perfil clínico característico, es necesario conocer nuestra población blanco. Objetivo. Caracterizar clínicamente los pacientes con diagnóstico de TEA de dos centros de referencia, en Bogotá. Pacientes y métodos. Estudio retrospectivo observacional y descriptivo de serie de casos documentados en historias clínicas de enero de 2010 a enero de 2014. Se revisaron las historias clínicas de todos los pacientes con TEA confirmada por diagnóstico, incluyendo datos sociodemográficos, antecedentes personales y familiares, así como factores de riesgo descritos en la literatura en relación con la aparición de TEA; ayudas diagnósticas, comorbilidades y tratamiento. Resultados. Ochenta y un casos cumplieron los criterios de inclusión. En la serie, se encontró predominio en el género masculino (94,1 %), complicaciones perinatales (43 %) y prematurez (7,6 %). Las principales comorbilidades fueron trastornos conductuales (63 %), epilepsia (23,5 %) y trastorno por déficit de atención e hiperactividad (23 %). Fue significativa la asociación entre epilepsia y discapacidad intelectual: 84 % (p<0,001). La asociación con síndromes genéticos o errores innatos del metabolismo fue mínima en nuestra serie. Los estudios complementarios fueron normales en la mayoría de los casos. Conclusiones. En nuestra serie predominó el autismo no sindrómico; la presentación clínica, el abordaje diagnóstico y terapéutico concuerdan con lo reportado en la literatura mundial. Los elementos clínicos constituyen la principal herramienta diagnóstica, el manejo conductual es el pilar de tratamiento. Estudios analíticos enfocados hacia las variables más significativas, permitirán la creación de estrategias terapéuticas dirigidas a nuestra población.

Summary Introduction: Patients with autism spectrum disorders (ASD) present great heterogeneity in their behavioral, cognitive, medical and psychiatric characteristics. In our environment, there is no description of such variables. Even though other studies have described a characteristic clinical profile, it is necessary to know our white population. Objective: Clinically characterize patients diagnosed with ASD at two reference centers in Bogotá. Patients and methods: Retrospective, observational and descriptive study of a series of cases documented in medical records from January 2010 to January 2014. The clinical histories of all patients with a confirmed diagnosis of ASD were reviewed, including sociodemographic data, personal and family history, as well as risk factors described in the literature in relation to the occurrence of ASD; diagnostic aids, comorbidities, and treatment. Results: Eighty-one cases met the inclusion criteria. In the series, predominance was found in the male gender (94.1%), perinatal complications (43%) and prematurity (7.6%). The main comorbidities were behavioral disorders (63%), epilepsy (23.5%) and attention deficit hyperactivity disorder (23%). The association between epilepsy and intellectual disability was significant at 84% (p <0.001). The association with genetic syndromes or inborn errors of metabolism was minimal in our series. Complementary studies were normal in most cases. Conclusions: In our series, non-syndromic autism predominated; the clinical presentation, the diagnostic and therapeutic approach all agree with what is reported in the world literature. The clinical elements constitute the main diagnostic tool, and behavioral management is the pillar of treatment. Analytical studies focused on the most significant variables will allow for the creation of therapeutic strategies aimed at our population.

Resumo Introdução. Os pacientes com transtornos do espectro autista (TEA) apresentam grande heterogeneidade em suas características comportamentais, cognitivas, médicas e psiquiátricas. Em nosso meio, não existe uma descrição de tais variáveis. Se bem que outros estudos têm descrito um perfil clínico característico, é necessário conhecer nossa população alvo. Objetivo. Caracterizar clinicamente os pacientes com diagnóstico de TEA de dois centros de referência em Bogotá. Pacientes e Métodos. Estudo retrospectivo observacional e descritivo de serie de casos documentados em histórias clínicas de janeiro de 2010 a janeiro de 2014. Revisaram-se as histórias clínicas de todos os pacientes com TEA con firmada por diagnóstico, incluindo dados sócio demográficos, antecedentes pessoais e familiares, assim como fatores de risco descritos na literatura em relação com a aparição de TEA; ajudas diagnósticas, co-morbilidades e tratamento. Resultados. Oitenta e um casos cumpriram os critérios de inclusão. Na série, se encontrou predomínio no gênero masculino (94,1 %), complicações perinatais (43 %) e prematuridade (7,6 %). As principais co-morbilidades foram transtornos de conduta (63 %), epilepsia (23,5 %) e transtorno por déficit de atenção e hiperatividade (23 %). Foi significativa a associação entre epilepsia e incapacidade intelectual: 84 % (p<0,001). A associação com síndromes genéticas ou erros inatos do metabolismo foi mínima em nossa série. Os estudos complementares foram normais na maioria dos casos. Conclusões. Em nossa série predominou o autismo não sindrômico; a apresentação clínica, a abordagem diagnóstica e terapêutica concordam com a informação reportada na literatura mundial. Os elementos clínicos constituem a principal ferramenta diagnóstica, o manejo da conduta é o pilar de tratamento. Estudos analíticos enfocados às variáveis mais significativas permitirão a criação de estratégias terapêuticas dirigidas a nossa população.

Autism Spectrum Disorder Diagnosis in Diagnostic and Statistical Manual of Mental Disorders-5 Compared to Diagnostic and Statistical Manual of Mental Disorders-IV

OBJECTIVES: The objective of this study was to investigate the concordance of Diagnostic and Statistical Manual of Mental Disorders (DSM-IV and DSM-5) diagnostic criteria for autism spectrum disorder (ASD). METHODS: We retrospectively reviewed the medical records of 170 subjects (age range: 3–23, 140 boys) with developmental delay or social deficit from January 2011 to July 2016 at the Department of Psychiatry of Asan Medical Center. The Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule (ADOS), and intelligence tests were performed for each subject. Diagnosis was reviewed and confirmed for each subject with DSM-IV Pervasive Developmental Disorder (PDD) and DSM-5 ASD criteria, respectively. RESULTS: Fifty-eight of 145 subjects (34.1%) who were previously diagnosed as having PDD in DSM-IV did not meet DSM-5 ASD criteria. Among them, 28 (48.3%) had Asperger's disorder based on DSM-IV. Most algorithm scores on ADOS and all algorithm scores on ADI-R were highest in subjects who met both DSM-IV PDD criteria and DSM-5 ASD criteria (the Convergent group), followed by subjects with a DSM-IV PDD diagnosis who did not have a DSM-5 ASD diagnosis (the Divergent group), and subjects who did not meet either DSM-IV PDD or DSM-5 ASD criteria (the non-PDD group). Intelligence quotient was lower in the Convergent group than in the Divergent group. CONCLUSION: The results of our study suggest that ASD prevalence estimates could be lower under DSM-5 than DSM-IV diagnostic criteria. Further prospective study on the impact of new DSM-5 ASD diagnoses in Koreans with ASD is needed.

Validation of vulnerability markers of dysfunctions in the socioemotional development of infants / Validação de marcadores de vulnerabilidade de lactentes para disfunções em seu desenvolvimento socioemocional / Validación de los marcadores de vulnerabilidad de los lactantes para las disfunciones en su desarrollo socioemocional

ABSTRACT Objectives: to validate the vulnerability markers of dysfunctions in the socioemotional development of infants. Methods: study with a sequential exploratory mixed-method design. The vulnerability markers elaborated in the qualitative phase were analyzed by experts in the quantitative phase using the Delphi technique with a minimum consensus of 70%. Seventeen judges answered the questionnaire in the first round of analysis and 11 answered in the second round. Results: in the first round, two markers did not reach minimum consensus: the presence of instability in family relationships (66%) and delinquency and/or drug abuse by parents/caregivers (65%). In the second round, all markers were validated, with more than 90% agreement in most of the attributes, and reached the minimum consensus of 73%. Conclusion: the eight vulnerability markers reached the minimum consensus for validation, and a relevant instrument for infant care can be developed after assessing the reliability and clinically validating these markers.

RESUMO Objetivos: validar marcadores de vulnerabilidade à disfunções no desenvolvimento socioemocional de lactentes. Métodos: pesquisa de método exploratório sequencial misto. Os marcadores de vulnerabilidade elaborados na fase qualitativa foram analisados por especialistas na fase quantitativa utilizando a técnica Delphi com consenso mínimo de 70%. Dezessete juízes responderam o questionário na primeira rodada de análise e 11 responderam na segunda rodada. Resultados: na primeira rodada, dois marcadores não alcançaram o consenso mínimo: presença de instabilidade nas relações familiares (66%) e situação de delinquência e/ou abuso dos pais/cuidadores (65%). Na segunda rodada, todos os marcadores foram validados, com mais de 90% de concordância na maioria dos atributos, e alcançaram o consenso mínimo de 73%. Conclusão: os oito marcadores de vulnerabilidade alcançaram consenso mínimo para a sua validação e foram habilitados à verificação de confiabilidade e validação clínica para compor um instrumento relevante ao cuidado do lactente.

RESUMEN Objetivos: validar los marcadores de vulnerabilidad de los lactantes para las disfunciones en el desarrollo socioemocional. Método: investigación de método exploratorio secuencial mixto. Los marcadores de vulnerabilidad, elaborados en la fase cualitativa, fueron sometidos a los especialistas en la fase cuantitativa del estudio, por medio de la Técnica Delphi, con el consenso mínimo del 70%. En la primera ronda de análisis, 17 jueces respondieron a la investigación y en la segunda ronda, 11 respondieron a la misma investigación. Resultados: en la primera ronda, dos marcadores no alcanzaron el consenso mínimo: Presencia de inestabilidad en las relaciones familiares (66%) y Situación de delincuencia y/o abuso de los padres/cuidadores (65%). En la segunda ronda, todos los marcadores fueron validados, con más del 90% de concordancia en la mayoría de los atributos, habiendo alcanzado el valor mínimo del 73%. Conclusión: los ocho marcadores de vulnerabilidad alcanzaron consenso mínimo para su validación, estando habilitados a la verificación de confiabilidad y validación clínica, para componer un instrumento relevante al cuidado del lactante.

Construção e validação de marcadores de vulnerabilidade de lactentes para disfunções em seu desenvolvimento socioemocional / Building and validation of vulnerability markers of infants to dysfunctions in their socioemotional development

Introdução. O desenvolvimento socioemocional da criança pequena é condicionado por fatores de exposição relacionados ao contexto, cuja presença define a vulnerabilidade da criança para as disfunções socioemocionais. A síntese dos fatores de exposição em marcadores qualitativos de vulnerabilidade favorece a construção de tecnologias de captação de situações de vulnerabilidade e proposição de intervenções que promovam o desenvolvimento socioemocional. Objetivos: Construir marcadores de vulnerabilidade de lactentes para disfunções em seu desenvolvimento socioemocional e realizar sua validação de conteúdo. Método: Pesquisa metodológica de abordagem qualitativa e quantitativa, que teve como referencial teórico o Modelo Bioecológico de Desenvolvimento Humano, e operacionalizada por meio de duas etapas de pesquisa: extração e síntese dos dados, e validação de conteúdo. A identificação dos fatores de exposição ocorreu mediante revisão integrativa, realizada entre abril e agosto de 2016, com critérios definidos de inclusão e exclusão dos estudos, e estratégias sistemáticas de busca. Os dados identificados foram extraídos e submetidos à técnica de análise temática categorial. Os fatores de exposição foram agrupados inicialmente ,conforme a sua semelhança semântica, e foi analisada a relação dessas categorias com os níveis de contexto (Microssistema, Mesossistema, Macrossistema e Exossistema) definidos pelo Modelo Bioecológico. Após, foi analisada a relação das categorias com os elementos de vulnerabilidade da criança para situações adversas em seu desenvolvimento. Da categorização dos fatores de exposição, ocorreu a construção dos marcadores de vulnerabilidade, seus componentes e seus manuais operacionais. Esses conteúdos foram submetidos a duas rodadas de validação de conteúdo com juízes peritos na área de saúde da criança e desenvolvimento infantil. Essa pesquisa foi aprovada pelo Comitê de Ética da Escola de Enfermagem da Universidade de São Paulo por meio do Certificado de Apresentação para Apreciação Ética nº 57933816.8.0000.5392. Resultados: A amostra final de artigos incluídos para a extração dos dados foi de 112.No contexto do Microssistema e Mesossistema, os fatores de exposição foram categorizados como: difilculdades nas relações sustentadoras contínuas; adversidades nas relações familiares e no apoio social, e situação de adoecimento dos cuidadores que influem nos processos proximais. No Exossistema e no Macrossistema os fatores de exposiçãoforam categorizados como: vulnerabilidades sociais dos cuidadores e fragilidades das políticas públicas, que condicionam as condições materiais e sociais da família. A partir dessas categorias, foram construídos oito marcadores de vulnerabilidade, seus 39 componentes e os respectivos manuais operacionais. Participaram da primeira rodada 17 juízes, que tiveram concordância máxima de 100% e mínima de 64% na validação dos marcadores, seus componentes e manuais operacionais. O material foi revisado com as sugestões dos juízes. Na segunda rodada, participaram 11 juízes com concordância máxima de 100% e mínima de 73 %, validando os oito marcadores propostos com seus 36 componentes. Considerações finais: A síntese dos fatores de exposição, apoiada em uma teoria de desenvolvimento abrangente, permitiu a construção de marcadores de vulnerabilidade que tiveram alta aprovação. O consenso obtido pelos juízes permite que essa tecnologia seja testada na prática clínica, para verificar sua capacidade preditiva, com potencial de antecipação dos fatores de exposição subsidiando a prevenção das disfunções socioemocionais.

Introduction: The socioemotional development of infants is conditioned by the exposure to context-related factors, whose presence defines infants vulnerability to socioemotional dysfunctions. The synthesis of exposure factors as qualitative markers of vulnerability holds up the construction of tools, which capture vulnerability situations and promote the socioemotional development. Objectives: To build vulnerability markers of infants for dysfunctions in their socioemotional development and to perform their content validation. Method: Methodological research with qualitative and quantitative approach, based on the Bioecological Model of Human Development, and implemented through two research steps: data collection and synthesis, and content validation. The identification of exposure factors occurred through an integrative review, carried out between April and August 2016, with defined inclusion and exclusion criteria of studies, and systematic search strategies. The identified data were collected, submitted to the categorical thematic analysis technique. The exposure factors were grouped according their semantic similarity and it was analised the relation of categories with the context levels (Microsystem, Mesosystem, Exosystem and Macrosystem) defined by the Bioecological Model. Subsequently, it was analised the relation of categories with the elements of vulnerability of children to adverse situations in their development. From the categorization of the exposure factors, the construction of the vulnerability markers, their components and their operational manuals occurred. These contents were submitted to two rounds of content validation with expert judges in the field of child health and child development. This research was approved by the Ethics Committee of the Nursing School of the University of São Paulo through the Certificate of Presentation for Ethical Appreciation nº 57933816.8.0000.5392. Results: The final sample of included articles for data collection was 112. In the context of the Microsystem and Mesosystem, the exposure factors were categorized as difficulties in the ongoing nurturing relationships; adversities in family relationships and social support, and the caregivers' illness situation that influence the proximal processes. In the Exosystem and Macrosystem, the exposure factors were categorized as caregivers' social vulnerabilities and weaknesses of public policies determining the material and social conditions of the family. From these categories, eight vulnerability markers, their 39 components and their operational manuals were built. The first round included 17 judges who had a maximum agreement of 100% and a minimum of 64% in the validation of the markers, their components and operational manuals. The material was revised with the judgessuggestions. In the second round, 11 judges participated with a maximum agreement of 100% and a minimum of 73%, validating the eight proposed markers with their 36 components. Final Considerations: The synthesis of exposure factors supported by a comprehensive development theory allowed the construction of vulnerability markers that had high approval. The consensus obtained by the judges allows that this technology be tested in clinical practice, to verify its predictive capacity, with a potential of anticipation of the exposure factors subsidizing the prevention of socioemotional dysfunctions.

Mobile Augmented Reality enhances indoor navigation for wheelchair users

Introduction: Individuals with mobility impairments associated with lower limb disabilities often face enormous challenges to participate in routine activities and to move around various environments. For many, the use of wheelchairs is paramount to provide mobility and social inclusion. Nevertheless, they still face a number of challenges to properly function in our society. Among the many difficulties, one in particular stands out: navigating in complex internal environments (indoors). The main objective of this work is to propose an architecture based on Mobile Augmented Reality to support the development of indoor navigation systems dedicated to wheelchair users, that is also capable of recording CAD drawings of the buildings and dealing with accessibility issues for that population. Methods Overall, five main functional requirements are proposed: the ability to allow for indoor navigation by means of Mobile Augmented Reality techniques; the capacity to register and configure building CAD drawings and the position of fiducial markers, points of interest and obstacles to be avoided by the wheelchair user; the capacity to find the best route for wheelchair indoor navigation, taking stairs and other obstacles into account; allow for the visualization of virtual directional arrows in the smartphone displays; and incorporate touch or voice commands to interact with the application. The architecture is proposed as a combination of four layers: User interface; Control; Service; and Infrastructure. A proof-of-concept application was developed and tests were performed with disable volunteers operating manual and electric wheelchairs. Results The application was implemented in Java for the Android operational system. A local database was used to store the test building CAD drawings and the position of fiducial markers and points of interest. The Android Augmented Reality library was used to implement Augmented Reality and the Blender open source library handled the basis for implementing directional navigation arrows. OpenGL ES provided support for various graphics and mathematical transformations for embedded systems, such as smartphones. Experiments were performed in an academic building with various labs, classrooms and male and female bathrooms. Two disable volunteers using wheelchairs showed no difficulties to interact with the application, either by entering touch or voice commands, and to navigate within the testing environment with the help of the navigational arrows implemented by the augmented reality modules. Conclusion The novel features implemented in the proposed architecture, with special emphasis on the use of Mobile Augmented Reality and the ability to identify the best routes free of potential hazards for wheelchair users, were capable of providing significant benefits for wheelchair indoor navigation when compared to current techniques described in the literature.

Monitoramento remoto pervasivo da saúde utilizando dispositivo móvel / Pervasive remote monitoring of human health via mobile devices

Este trabalho aplica o método Sliding Window (SW) associado a uma Rede Neural Artifical (RNA) para consolidação de dados advindos de um acelerômetro para o monitoramento de movimentos humanos. A partir desses dados foi extraído um vetor de entrada, para o classificador, com quatro características. Foram feitas várias combinações entre os parâmetros da SW, otimizando a média de acertos, atingindo então 92,63%. Conclui-se que a Sliding Window associada a RNA é apropriada para detecção dos seis movimentos aqui estudados. Esta técnica pode ser amplamente utilizada no monitoramento remoto de pacientes de forma menos invasiva, onde uma central remota realiza o processamento offline dos dados recebidos através do dispositivo móvel.

This paper applies the method Sliding Window (SW) in association with Artificial Neural Network (ANN) for consolidation of data that is generated by an accelerometer, which monitors human movements. From the extracted data was created an input vector with four features to the classifier. Several combinations were made regarding the SWparameters, optimizing the mean hit, which reached 92.63%. It is concluded that a sliding window associated with ANNis appropriate to the detection of the six studied movements. This technique can be widely used in remote monitoring of patients in a less invasive way, while a remote central carries out an offline processing of the received data from a mobile device.

Autism Spectrum Disorder: Lost In Space.

Pervasive developmental disorders (PDD) is a developmental neurological disorders. PDD consist of Autism, Asperger syndrome, Pervasive developmental disorder not otherwise specified Rett's disorder and childhood di sintegrative disorder. The incidence of the disease has been increased in past one decade when compared to earlier, which is due to increased awareness of the disease. The diagnosis of the PDD mainly by diagnostic and statistical manual of mental disorder(DSM) published by American psychiatric association. DSM V the pervasive development disorders were considered into single autism like spectrum of disorders. Autism spectrum disorder is not completely curable and hence requires lifelong management Educational and behavioral interventions are more successful when compared to medications alone. Early interventions have more positive results. The present review articles describes regarding the Pervasive developmental disorders, prevalence of autism worldwide, individual countries ,their characteristic features, diagnosis by DSM IV and DSM V, causative factors involved and management.

Diagnostic Accuracy of Indian Scale for Assessment of Autism (ISAA) in Chidren Aged 2-9 Years.

Objective: To determine the diagnostic accuracy of Indian Scale for Assessment of Autism (ISAA) in children aged 2-9 year at high risk of autism, and to ascertain the level of agreement with Childhood Autism Rating Scale (CARS). Design: Diagnostic Accuracy study Setting: Tertiary-level hospital. Participants: Children aged between 2 and 9 year and considered to be at a high risk for autism (delayed development, and age-inappropriate cognition, speech, social interaction, behavior or play) were recruited. Those with diagnosed Hearing impairment, Cerebral palsy, Attention deficit hyperactivity disorder or Pervasive developmental disorders (PDD) were excluded. Methods: Eligible children underwent a comprehensive assessment by an expert. The study group comprising of PDD, Global developmental delay (GDD) or Intellectual disability was administered ISAA by an investigator after one week. Both evaluators were blinded. ISAA results were compared to the Expert’s diagnosis and CARS scores. Results: Out of 102 eligible children, 90 formed the study group (63 males, mean age 4.5y). ISAA had a sensitivity 93.3, specificity of 97.4, positive and negative likelihood ratios 85.7 and 98.7 and positive and negative predictive values of 35.5 and 0.08, respectively. Reliability was good and validity sub-optimal (r low, in 4/6 domains). The optimal threshold point demarcating Autism from ‘No autism’ according to Receiver Operating Characteristic curve was ISAA score of 70. Level of agreement with CARS measured by Kappa coefficient was low (0.14). Conclusions: The role of ISAA in 3-9 year old children at high risk for Autism is limited to identifying and certifying Autism at ISAA score of 70. It requires re-examination in 2-3 year olds.

Neuropsychomotor developmental delay: conceptual map, term definitions, uses and limitations / Atraso do desenvolvimento neuropsicomotor: mapa conceitual, definições, usos e limitações do termo

OBJECTIVE: To retrieve the origin of the term neuropsychomotor developmental delay" (NPMD), its conceptual evolution over time, and to build a conceptual map based on literature review. DATA SOURCE: A literature search was performed in the SciELO Brazil, Web of Science, Science Direct, OneFile (GALE), Pubmed (Medline), Whiley Online, and Springer databases, from January of 1940 to January of 2013, using the following keywords: NPMD delay, NPMD retardation, developmental delay, and global developmental delay. A total of 71 articles were selected, which were used to build the conceptual map of the term. DATA SYNTHESIS: Of the 71 references, 55 were international and 16 national. The terms developmental delay and global developmental delay were the most frequently used in the international literature and, in Brazil, delayed NPMD was the most often used. The term developmental delay emerged in the mid 1940s, gaining momentum in the 1990s. In Brazil, the term delayed NPMD started to be used in the 1980s, and has been frequently cited and published in the literature. Delayed development was a characteristic of 13 morbidities described in 23 references. Regarding the type of use, 19 references were found, with seven forms of use. Among the references, 34 had definitions of the term, and 16 different concepts were identified. CONCLUSIONS: Developmental delay is addressed in the international and national literature under different names, various applications, and heterogeneous concepts. Internationally, ways to improve communication between professionals have been indicated, with standardized definition of the term and use in very specific situations up to the fifth year of life, which was not found in Brazilian publications. .

OBJETIVO: Resgatar a origem do termo atraso do desenvolvimento neuropsicomotor (DNPM), sua evolução conceitual ao longo do tempo e construir mapa conceitual do termo com base em busca bibliográfica. FONTES DE DADOS: Foi realizada busca nas bases de dados eletrônicas do Portal da Capes, que incluem Scielo Brazil, Web of Science, Science Direct, OneFile (GALE), Pubmed (Medline), Whiley Online e Springer, referente a Janeiro/1940-Janeiro/2013. Palavras-chave: atraso e retardo do DNPM, developmental delay e global developmental delay. Foram selecionados 71 artigos e construído o mapa conceitual do termo. SÍNTESE DE DADOS: Das 71 referências, 55 eram internacionais e 16 nacionais. Os termos mais encontrados foram global developmental delay e developmental delay na literatura internacional e retardo e atraso do DNPM no Brasil. Internacionalmente, o termo surgiu em meados da década de 40 ganhando força nos anos 90. No Brasil, o termo começou a ser usado na década de 80 e vem sendo frequentemente citado na literatura. O atraso é citado em 23 trabalhos como característica presente em 13 tipos de condições clínicas. Com relação ao uso, foram encontrados 19 estudos, com sete situações de uso. Dentre os artigos revisados, 34 deles apresentaram definições, sendo identificados 16 conceitos diferentes. CONCLUSÕES: O atraso do desenvolvimento é abordado na literatura internacional e nacional sob diversos nomes, diferentes aplicações e conceitos heterogêneos. Internacionalmente, apontam-se caminhos para melhorar a comunicação entre profissionais, com definição padronizada do termo e uso em situações específicas até o quinto ano de vida, o que não foi encontrado nas publicações nacionais. .

Influence of aberrant behaviors on the mental health of caregivers for patients with pervasive developmen-tal disorders / 中国神经精神疾病杂志

Objective To investigate the influence of hyperactivity, Stereotyped behaviors , self-injury and irritabili?ty on parenting stress and emotions of the caregivers for patients with pervasive developmental disorders (PDDs). Methods Abnormal behaviors during last month were assessed in 138 PDDs patients by using Aberrant Behavior Checklist (ABC) and Conners Index of Hyperactivity (CIH). The parenting stress and the emotional state of the patients’parents were evalu?ated by the Caregiver Strain Questionnaire (CGSQ) and Hospital Anxiety and Depression Scale (HAD), respectively. Re?sults Anxiety, depression and combination of anxiety and depression were present in 6.2%, 17.8%and 29.5%of PDDs caregivers, respectively. The partial correlation analysis showed that CGSQ score of patients’parents positively correlated with CIH score (r=0.201, P=0.023) and stereotyped act (r=0.189, P=0.033) of the patients, and negatively correlated with stereotyped speech (r=-0.219, P=0.013). The anxious mood of parents positively correlated with stereotyped act (r=0.206, P=0.021). Conclusions Anxiety and depression are common in caregivers of PDDs. Except for stereotyped speech, aber?rant behaviors of the PDDs increase parenting stress and worsen anxious mood of caregivers.

Incidence of aberrant behaviors in children with pervasive developmental disorders / 中华行为医学与脑科学杂志

Objective To evaluate the incidence of four aberrant behaviors in patients with pervasive developmental disorders (PDDs).Methods The abnormal behaviors during the last month in 138 PDDs patients were assessed with Aberrant Behavior Checklist and Conners Index of Hyperactivity.Results The incidence of aberrant behaviors was 61.6％ for hyperactivity,81.9％ for stereotyped behaviors,13.77％ for self-injury,and 58.70％ for irritability in PDDs patients.The occurance of irritability in autism patients was higher than that of asperger syndrome (AS) patients (x2 =5.623,P=0.018).Conclusion Stereotyped behaviors,hyperactivity and irritability are common in children with PDDs.Autism patients are more likely to exhibit irritability behaviors than AS patients.