Comparing the results of DAADD and ABC of children included in Autism Spectrum Disorders / Comparação entre os resultados dos protocolos DAADD e ABC de crianças incluídas nos Distúrbios do Espectro do Autismo

PURPOSE: To verify if there are characteristic behaviors of the different diagnosis included in the autism spectrum according to the Differential Assessment of Autism and Other Developmental Disorders (DAADD) and to the Autism Behavior Checklist (ABC). METHOD: Participants were 45 individuals and their respective speech-language therapists. All therapists are graduate students working with the children for at least 1 year. This time was considered sufficient to the therapists to have the information required by the DAADD questionnaire. It is comprised by 3 protocols specifically designed to children with 2 to 4 years, 4 to 6 years and 6 to 8 years, the same criteria used to separate the research groups, G1, G2 and G3, respectively. Data referring to the ABC were retrieved from the subject's files at the Laboratório de Investigação Fonoaudiológica nos Distúrbios do Espectro do Autismo (Research Laboratory on Language Disorders in the Autism Spectrum) of the School of Medicine, Universidade de São Paulo, where it is routinely applied during the annual assessment. RESULTS: Answers to the different areas of DAADD are similar to the different areas of ABC. These data show data the diagnosis by DAADD is easier in older children. Although there is no significant difference, the large occurrence of Rett's syndrome diagnosis according to the DAADD was associated to higher risk for autism according to the ABC in G1. With increasing age this tendency decreases and either in G2 and G3 Autism is the most frequent diagnosis. CONCLUSION: Although the results of both questionnaires tend to agree more with increasing age, the DAADD is more sensitive in the different ages while the ABC if more specific only to older children. .

OBJETIVO: Verificar a existência de comportamentos característicos de diferentes quadros incluídos nos Distúrbios do Espectro do Autismo identificados segundo o Differential Assessment of Autism and Other Developmental Disorders (DAADD) e a Autism Behavior Checklist (ABC). MÉTODO: Participaram desta pesquisa 45 indivíduos autistas e suas respectivas terapeutas. Todas as terapeutas são fonoaudiólogas pós-graduandas e atendiam os sujeitos há pelo menos um ano, tempo considerado suficiente para fornecer as informações solicitadas pelo DAADD. Ele é composto por três protocolos especificamente dirigidos a crianças entre dois e quatro anos de idade, quatro e seis anos, e seis e oito anos, o mesmo critério usado para dividir os grupos da pesquisa em G1, G2 e G3, respectivamente. Os dados referentes à ABC foram retirados dos protocolos dos sujeitos, registrados no acervo do Laboratório de Investigação Fonoaudiológica nos Distúrbios do Espectro do Autismo da Faculdade de Medicina da Universidade de São Paulo, uma vez que ele é regularmente aplicado a todos os pacientes durante o processo de avaliação anual. RESULTADOS: As respostas do DAADD, por área, se aproximam das respostas do ABC, também por área. Os dados evidenciam que, conforme a idade aumenta, é mais fácil identificar o diagnóstico pelo DAADD. Apesar de não haver diferença estatisticamente significativa, a grande ocorrência do diagnóstico de SR obtida no DAADD associou-se à alta probabilidade no ABC para o G1. Conforme aumenta a idade, essa prevalência diminui, sendo o autismo mais prevalente no item alta probabilidade tanto para o G2 quanto para o G3. CONCLUSÃO: Apesar de os protocolos serem mais concordantes conforme aumentam as idades, por faixa etária, o DAADD se mostra mais ...

Autism spectrum disorder reclassified: a second look at the 1980s Utah/UCLA Autism Epidemiologic Study.

The purpose of the present study was to re-examine diagnostic data from a state-wide autism prevalence study (n = 489) conducted in the 1980s to investigate the impact of broader diagnostic criteria on autism spectrum disorder (ASD) case status. Sixty-four (59 %) of the 108 originally "Diagnosed Not Autistic" met the current ASD case definition. The average IQ estimate in the newly identified group (IQ = 35.58; SD = 23.01) was significantly lower than in the original group (IQ = 56.19 SD = 21.21; t = 5.75; p < .0001). Today's diagnostic criteria applied to participants ascertained in the 1980s identified more cases of autism with intellectual disability. The current analysis puts this historic work into context and highlights differences in ascertainment between epidemiological studies performed decades ago and those of today.

Use of machine learning to shorten observation-based screening and diagnosis of autism.

The Autism Diagnostic Observation Schedule-Generic (ADOS) is one of the most widely used instruments for behavioral evaluation of autism spectrum disorders. It is composed of four modules, each tailored for a specific group of individuals based on their language and developmental level. On average, a module takes between 30 and 60 min to deliver. We used a series of machine-learning algorithms to study the complete set of scores from Module 1 of the ADOS available at the Autism Genetic Resource Exchange (AGRE) for 612 individuals with a classification of autism and 15 non-spectrum individuals from both AGRE and the Boston Autism Consortium (AC). Our analysis indicated that 8 of the 29 items contained in Module 1 of the ADOS were sufficient to classify autism with 100% accuracy. We further validated the accuracy of this eight-item classifier against complete sets of scores from two independent sources, a collection of 110 individuals with autism from AC and a collection of 336 individuals with autism from the Simons Foundation. In both cases, our classifier performed with nearly 100% sensitivity, correctly classifying all but two of the individuals from these two resources with a diagnosis of autism, and with 94% specificity on a collection of observed and simulated non-spectrum controls. The classifier contained several elements found in the ADOS algorithm, demonstrating high test validity, and also resulted in a quantitative score that measures classification confidence and extremeness of the phenotype. With incidence rates rising, the ability to classify autism effectively and quickly requires careful design of assessment and diagnostic tools. Given the brevity, accuracy and quantitative nature of the classifier, results from this study may prove valuable in the development of mobile tools for preliminary evaluation and clinical prioritization-in particular those focused on assessment of short home videos of children--that speed the pace of initial evaluation and broaden the reach to a significantly larger percentage of the population at risk.

How useful are screening instruments for toddlers to predict outcome at age 4? General development, language skills, and symptom severity in children with a false positive screen for autism spectrum disorder.

Screening instruments for autism spectrum disorder (ASD) often generate many false positives. It is argued that these children may have other developmental difficulties and are also in need of thorough assessment and early intervention. The current study looked at the predictive validity of positive screens on the Checklist for Early Signs of Developmental Disorders (CESDD) and the Early Screening of Autistic Traits questionnaire (ESAT) at age 2 towards language, cognitive function, and symptom severity at age 4. Children who screened positive on the ESAT scored lower for both language and cognitive functioning at age 4 compared with children who screened negative on the ESAT. Also, the more signs of ASD that were recognized on the CESDD or ESAT, the lower the scores for language and cognitive functioning at age 4. False positive screens could be differentiated from true positive screens on the CESDD only in symptom severity score on the Autism Diagnostic Observation Schedule (ADOS). It seems that early screeners for ASD also detect children with other developmental disorders and that diagnostic instruments such as the ADOS are warranted to differentiate between children with ASD and other developmental problems.

[Anti-NMDA-receptor encephalitis: a new axis-III disorder in the differential diagnosis of childhood disintegrative disorder, early onset schizophrenia and late onset autism]. / Anti-NMDA-receptorencefalitis: een nieuwe as III-stoornis in de differentiaaldiagnose van desintegratiestoornis van de kinderleeftijd, vroeg optredende schizofrenie en laat optredend autisme.

Childhood disintegrative disorder (CDD), early onset schizophrenia (EOS), and late onset autism (LOA) often follow a similar course: initially, development is normal, then there is a sudden neuropsychiatric deterioration of social interaction and communication skills, which is combined with a decline in intelligence and reduction in daily activities. A 9-year-old boy was admitted to the paediatric ward with acute onset of secondary epileptic seizures. It was not long until the boy's symptoms resembled that of patients with cdd, eos and loa. Intensive tests led to the diagnosis of anti-NMDA-receptor encephalitis. Anti-NMDA-receptor encephalitis should be regarded as a possible organic cause underlying the syndromal presentation of CDD, EOS and LOA.

Predictive value of subclinical autistic traits at age 14-15 months for behavioural and cognitive problems at age 3-5 years.

It is unclear whether subclinical autistic traits at very young age are transient or stable, and have clinical relevance. This study investigated the relationship between early subclinical autistic traits and the occurrence of later developmental and behavioural problems as well as problems in cognitive and language functioning. Parents of infants aged 14-15 months from the general population completed the Early Screening of Autistic Traits Questionnaire (ESAT). Three groups of children with high, moderate, and low ESAT-scores (total n = 103) were selected. Follow-up assessments included the CBCL 1(1/2)-5 at age 3 years, and the SCQ, the ADI-R, the ADOS-G, an on-verbal intelligence test, and language tests for comprehension and production at age 4-5 years. None of the children met criteria for autism spectrum disorder at follow-up. Children with high ESAT-scores at 14-15 months showed significantly more internalizing and externalizing problems at age 3 years and scored significantly lower on language tests at age 4-5 years than children with moderate or low ESAT-scores. Further, significantly more children with high ESAT-scores (14/26, 53.8%) than with moderate and low ESAT-scores (5/36, 13.9% and 1/41, 2.4%, respectively) were in the high-risk/clinical range on one or more outcome domains (autistic symptoms, behavioural problems, cognitive and language abilities). Subclinical autistic traits at 14-15 months predict later behavioural problems and delays in cognitive and language functioning rather than later ASD-diagnoses. The theoretical implications of the findings lie in the pivotal role of early social and communication skills for the development of self-regulation of emotions and impulses. The practical implications bear on the early recognition of children at risk for behavioural problems and for language and cognitive problems.

Estabilidad en el diagnóstico, la cognición y el lenguaje en un grupo de niños con trastornos generalizados del desarrollo / Stability of the diagnosis and of cognitive and language development evaluation in a group of children with pervasive developmental disorders

Objetivo: observar la estabilidad del diagnóstico de trastorno generalizado del desarrollo (TGD) de la cognición y del lenguaje en una muestra de niños menores de 5 años. Material y Método: 32 niños (30 varones, 2 niñas) con diagnóstico de TGD (realizado con CARS, criterios de DSM IV y criterio clínico). Evaluación del desarrollo con CAT. Dos años después reevaluación con ADI-R, ADOS, criterios del DSM IV y criterio clínico. Cognición: Test Raven. Resultados: En la primera evaluación el diagnóstico se realizó a los 42 meses ± 11 (25-63). TA 23 (71%), TGDNE 9 (28%). Desarrollo: 4 niños normales; 14 retraso, y 14 no evaluables. Lenguaje: 13 (40%) verbales, y 19 (60%) no. En la reevaluación la edad fue de 76 ± 15 meses (50 a 114). Los diagnósticos fueron: TA 20 (62,5%), TGDNE 8 (25%), retardo mental 1 (3%), no cumplen criterios para TGD 3 (9,3%) 1 ADHD, 2 signos residuales en conducta. Evaluación cognitiva: normal 10 (31%); retraso 19 (59%); 3 (9.4%) no accedieron. Lenguaje: 65% (21/32) verbales. Del grupo total, 25 (78%) niños mantuvieron el diagnóstico, 28 (87%) permanecieron dentro de la categoría TGD. En cambio sólo el 37% mantuvo el diagnóstico cognitivo. Conclusiones: la estabilidad del diagnóstico de TA fue alta en un período entre 2 y 5 años. La estabilidad de la cognición fue baja (AU)

Objective: To assess the stability of the diagnosis of pervasive developmental disorders (PDD) of cognitive and language development in a series of children under 5 years of age. Material and Methods: 32 children (30 male, 2 female) with a diagnosis of PDD (made based on CARS, DSM IV criteria, and clinical evaluation). Developmental evaluation was by CAT. The children were reevaluated two years later using the ADI-R, ADOS, DSM IV criteria, and clinical criteria. Cognitive development was measured by Raven's Test. Results: On first evaluation, the diagnosis was made at 42 months ± 11 (25-63). Autistic disorder (AD) 23 (71%), PDDNOS 9 (28%). Cognitive development: normal 4, delayed 14, and 14 could not be evaluated. Language development: 13 (40%) verbal and 19 (60%) not verbal. Reevaluation took place at 76 ± 15 months (50 a 114). Diagnoses were: AD 20 (62.5%), PDD-NOS 8 (25%), mental retardation 1 (3%), did not meet PDD criteria 3 (9.3%) ADHD 1, residual signs in behavior 2. Cognitive development: normal 10 (31%); delayed 19 (59%); 3 were not evaluated (9.4%). Language development: 65% (21/32) verbal. Overall, the diagnosis was maintained in 25 (78%) children; 28 (87%) children stayed within the PDD category. However, the cognitive diagnosis was maintained in only 37%. Conclusions: firmness of the diagnosis of AD was high in the period between 2 and 5 years of age. Diagnosis of cognitive development was not stable (AU)

Autism spectrum conditions in individuals with Möbius sequence, CHARGE syndrome and oculo-auriculo-vertebral spectrum: diagnostic aspects.

As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); Möbius sequence (Möbius), CHARGE syndrome (CHARGE) and oculo-auriculo-vertebral spectrum (OAV), autism spectrum conditions (ASCs) was diagnosed in 45%, 68% and 42% of the individuals, respectively. Diagnostic difficulties due to additional dysfunctions such as mental retardation (MR), impaired vision, reduced hearing and cranial nerve dysfunction, were experienced in all three BPC groups. The applicability of current autism diagnostic instruments, such as the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS) and the Autistic Behaviour Checklist (ABC), in individuals with ASCs and Möbius/CHARGE/OAV was analysed. Use of an extensive battery of diagnostic instruments, including both observational schedules and parent interviews, and, if possible, independent judgements from two clinicians, is essential in the diagnostics of ASCs in these individuals. Further, in individuals who are deaf and blind the applicability of current autism diagnostic instruments is highly questionable.

Dos errores basales en la función clasificatoria y clínica del DSM-IV respecto del diagnóstico diferencial entre Trastorno Autista y Trastorno de Asperger / Two main mistakes in classificatory and clinical function of DSM-IV, in the case of differential diagnosis between Asperger and Austistic Disorder

Se analizaron los ítems que componen la descripción sintomática del Trastorno Autista y el Trastorno de Asperger en el DSM-IV. Como resultado de esta revisión se halló una gran cantidad de criterios diagnósticos que se superponen entre ambos trastornos, lo que lleva a la imposibilidad de hacer un diagnóstico diferencial claro, cuestionando así la solidez de la función clasificatoria del manual. La función clínica de esta distinción diagnóstica es analizada a través de un caso clínico, en el que se muestra la falta de utilidad de la misma al momento de instrumentar estrategias de abordaje para un caso de Trastorno Autista. Se concluye que debe relativizarse el valor estadístico de los datos obtenidos por medio de esta herramienta clasificatoria, y que, de acuerdo a la forma de abordaje terapéutico que refiere el autor, el diagnóstico de cualquiera de los dos trastornos no modifica la estrategia general de trabajo.

Symptomatic description of what the DSM-IV understands for Asperger's and Autistic Disorder was analyzed. As a result of this revision there was found that a great amount of diagnostic criteria overlap, and lead to the impossibility to make a clear differential diagnosis. The classifying function is, thus, criticized. The clinical function of this diagnostic distinction is analyzed through a clinical case. It is shown its lack of utility when a therapeutic method should be implemented in a case of Autistic Disorder. It is concluded that the statistical value of the results obtained by using this classificatory instrument should be examined due to this lack of distinction. Also, according to the therapeutic approach witch the author makes reference, it is shown that the diagnostic of any both disorders does not modify the general intervention strategy.

Transtornos invasivos do desenvolvimento não-autísticos: síndrome de Rett, transtorno desintegrativo da infância e transtornos invasivos do desenvolvimento sem outra especificação / Non-autistic pervasive developmental disorders: Rett syndrome, disintegrative disorder and pervasive developmental disorder not otherwise specified

A categoria "transtorno invasivos do desenvolvimento" inclui o autismo, a síndrome de Asperger, a síndrome de Rett, o transtorno desintegrativo da infância e uma categoria residual denominada transtornos invasivos do desenvolvimento sem outra especificação. Nesta revisão, a síndrome de Rett e o transtorno desintegrativo da infância, que são categorias bem definidas, serão discutidas, assim como as categorias não tão bem definidas que foram incluídas no grupo transtornos invasivos do desenvolvimento sem outra especificação. Diferentes propostas de categorização têm sido feitas, algumas baseadas em abordagem fenomenológica descritiva, outras baseadas em outras perspectivas teóricas, tais como a neuropsicologia. As propostas atuais são apresentadas e discutidas, seguidas por avaliações críticas sobre as vantagens e desvantagens desses conceitos.

Autism and related disorders: epidemiological findings in a Norwegian study using ICD-10 diagnostic criteria.

Recent studies of the prevalence of autism have suggested higher estimates than previously described. Various diagnostic criteria for autism and related disorders have been applied, with variability in case finding methodology and characteristics of populations as well. In this study, maternal and child health clinics covering 98% of the population were used for screening pervasive developmental disorders. Extensive medical investigation was carried out on the majority of cases. In this Norwegian population of children ages 3-14 years the minimum prevalence estimate for childhood autism was 4-5 per 10,000 using ICD-10 research criteria, and did not confirm the high estimates suggested more recently. Medical disorders identified were associated with mental retardation rather than specifically with autism.