The Revelatory Journey of Fine-tuning the Diagnosis of an Adult Male on the Autistic Spectrum - Asperger Syndrome/High-functioning Autism with Corollary Diagnoses / Viaje revelador al configurar el diagnóstico de un varón adulto en sintonía con el espectro autista - síndrome de Asperger/autismo de alto funcionamiento con diagnósticos corolarios

ABSTRACT This article provides an account of the revelatory experience of diagnosing a high-functioning, autistic, adult male by a non-specialist medical practitioner and its implications for knowledge, attitudes and practice in dealing with the autistic spectrum.

RESUMEN Este artículo ofrece un reporte de la experiencia reveladora del diagnóstico de un varón adulto autista de alto funcionamiento por un médico no especializado y sus implicaciones para el conocimiento, las actitudes y la práctica al tratar con el espectro autista.

Caso clínico: Trastorno del Espectro Autista (TEA) / Autistic Spectrum Disorder (ASD)

Paciente, 18 años, hijo único, pololeando. Antecedentes Psiquiátricos Familiares (+). Repitió 3 veces el 1ero básico. Aislamiento social e intereses restringidos desde la infancia. Derivado de Alter joven. Historia de larga data (>1 año) de mayor descuido de higiene personal, aislamiento social e irritabilidad. Hipótesis diagnóstica: TEA. Seguimiento con controles médicos, con terapeuta ocupacional y psicoterapia. Examen mental al inicio: Con escaso contacto visual. Pseudocontactado, hipomímico. Afecto con rango de expresividad emocional disminuido. Humor depresivo. Lenguaje lacónico, aprosódico. Al examen (6 meses después) destaca buen arreglo personal, contactado, establece contacto visual, tranquilo, adecuado, cooperador, eutímico, mímica facial acorde al relato, lenguaje bien articulado, con manierismos y estereotipias, prosodia alterada, pensamiento estructurado, con rigidez cognitiva y concreto.

Patient, 18 years old, only child, in love relationship. Family Psychiatric Background (+). He repeated 3 times the 1st basic course. Social isolation and restricted interests from childhood. Derived from Young Alter. Long history (> 1 year) of greater neglect of personal hygiene, social isolation and irritability. Diagnostic hypothesis: ASD. Follow-up with medical controls, occupational therapist and psychotherapy. Mental exam at the start: With little eye contact. Pseudocontact, hypomimic. Affect with decreased emotional expressiveness. Depressive mood. Laconic language, aprosodic.

Transtorno do espectro autista: onde estamos e para onde vamos / Autism spectrum disorders: where we are and where we are going / Trastorno de espectro autista: dónde estamos y hacia dónde vamos

A ampliação do conhecimento científico sobre o autismo pode ser identificado pelo aumento na produção de pesquisas sobre este transtorno nas últimas décadas, implicando atualizações recentes em sua classificação, compreensão e intervenção. O objetivo deste artigo é apresentar uma revisão da literatura sobre o autismo, apontando como os avanços investigativos recentes têm lançado luz sobre a compreensão do transtorno. Relata historicamente como os critérios para o diagnóstico nos manuais médicos de classificação foram aprimorados, complementados e suplantados com base em evidências até o atual DSM-5. É realizada uma revisão das contribuições teóricas e empíricas que impulsionaram essas mudanças para sintetizar o que tem sido considerado como aspectos centrais desse transtorno como espectro dimensional. Problematiza o aumento do número de diagnósticos a partir dos dados epidemiológicos atuais, destacando o que as pesquisas multidisciplinares têm identificado como fatores etiológicos e prognósticos para a vida adulta. Por fim, revisa brevemente o panorama dos principais programas e modelos de intervenção baseados em evidências para pessoas com autismo nas áreas da saúde e educação, para então apontar os atuais desafios neste contexto.

The diffusion of scientific knowledge about autism can be explained trough the increasing number of researches on this disorder in the last decades, implying in recent updates in its classification, understanding and intervention. The purpose of this paper is to present a literature review on autism highlighting how the recent investigative advances that have shed light on the understanding ofthe disorder. It reports historically how the first diagnostic criteria were being improved, supplemented and supplanted in the medical classification manuals, based on research until DSM-5. A review of empirical researches that drove these changes is performed to synthesize what has been considered as core aspects of this disorder as a dimensional spectrum. Discusses the increasing number of diagnoses, emphasizing the points that the multidisciplinary research has identified as possible causes, and the knowledge about the development expectations for adulthood. Finally, it reviews the landscape of the main programs and intervention models for people with autism in health and education fields, to point out to the current challenges and those to be addressedin the future

El propósito de este artículo es presentar una revisión de la literatura sobre el autismo señalando los avances recientes de investigación resultantes que han arrojado luz sobre la comprensión del trastorno. Informa históricamente como los criterios para este diagnóstico en la clasificación de los manuales de medicina se están siendo avanzados, complementados y suplantados con base en la investigación por la corriente del DSM-5. Se realiza una revisión de las investigaciones empíricas que impulsó a estos cambios para sintetizar lo que se ha considerado como aspectos centrales de este trastorno como un espectro dimensional. Se analiza el creciente número de diagnósticos, enfatizando o que las investigaciones multidisciplinares han identificado como posibles causas, y lo que se sabe acerca de las expectativas de desarrollo para la edad adulta. Por último, revisa el panorama de los principales programas y modelos de intervención para las personas con autismo en las áreas de salud y educación, para apuntar a los retos actuales en este contexto y aquellos que se abordarán en el futuro.

Características neuroanatómicas del síndrome de Asperger / Neuroanatomical characteristics of Asperger's síndrome

El síndrome de Asperger (SA) es un trastorno del neurodesarrollo que se caracteriza por presentar deterioros cualitativos de las interacciones sociales recíprocas y de los modos de comunicación, como también por la restricción del repertorio de intereses y de actividades que se aprecian estereotipadas y repetitivas. En la actualidad, el Manual Diagnóstico y Estadístico de Trastornos Mentales (DSM-V) decide eliminar esta subcategoría e incorporarla en una categoría general conocida como trastorno del espectro autista (TEA), lo que ha producido muchos debates y desacuerdos principalmente por distingirlo o no, con el autismo del alto funcionamiento (AAF). Un enfoque para resolver esta cuestión corresponde a los esfuerzos que se realizan por comprender la neuroanatomía estructural y funcional del TEA y del SA en particular, sin embargo, estas aproximaciones han dado lugar a resultados variables, debido a las diferencias en la edad, género, subcategorías y coefieciente intelectual de los sujetos de estudio, así como por criterios de inclusión y metodología de estudio. En base a lo anterior, el objetivo de esta revisión fue exponer el conocimiento actual de las características neuroanatómicas del SA considerando para esto aquellas investigaciones del TEA que individualizan este trastorno como entidad diagnóstica y lo diferencian del AAF.

The asperger syndrome (AS) is a neurodevelopmental disorder that is characterized by qualitative deterioration of reciprocal social interactions and communication methods, as well as by the restriction of the repertoire of interests and activities that are perceived as stereotyped and repetitive. Actually, the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) decides to eliminate this subcategory and to incorporate it into a general category known as autism spectrum disorder (ASD), which has produced many debates and disagreements mainly to distinguish it or not with High Functioning Autism (HFA). One approach to address this question is the effort to understand the structural and functional neuroanatomy of ASD and AS in particular; however, this approach has led to variable outcomes, often due to differences in age, gender, subcategories and IQ of study subjects, as well as by inclusion criteria and study methodology. Based on the above-mentioned, the aim of this review was to present the current knowledge of the neuroanatomical characteristics of AS considering for this the investigations of the ASD that individualize this disorder as a diagnostic entity and differentiate it from HFA.

[Screening interview for early detection of high-functioning autism spectrum disorders]. / Screening von Kindern und Jugendlichen mit hochfunktionaler Autismus-Spektrum-Störung anhand ausgewählter Items des ADI-R.

OBJECTIVE: Various different questionnaires are available for the screening of autism spectrum disorders (ASD). These screening instruments show high sensitivity and are able to identify a large number of individuals with ASD, but they lack the specificity to differentiate individuals with ASD from those children and adolescents with other complex neurobehavioural disorders (such as attention-deficit/hyperactivity disorder, emotional disorders, and others), especially for those without intellectual disabilities. METHOD: The present study evaluates the data of 309 individuals (153 with high-functioning ASD, 156 with other psychiatric disorders, IQ > 70) to find out whether selected items of the ADI-R can be used for an economic and sensitive screening of high-functioning ASD. RESULTS: The results show that 8 items of the ADI-R can be used to discriminate high-functioning ASD and other psychiatric disorders. A cutoff of 5 led to a sensitivity of 0.93 and a cutoff of 6 to a specificity of 0.74. CONCLUSION: The combination of early onset, serious abnormalities in social contact with stereotyped or compulsive-ritualized behaviour or interests can be detected with few interview questions for screening of ASD. Nevertheless, a more detailed and specific assessment in an expert setting should follow the screening process.

ADHD and nicotine use in schizophrenia or Asperger syndrome: a controlled study.

OBJECTIVE: To examine ADHD prevalence, rating scales, and relationship to nicotine use in adults with schizophrenia or Asperger syndrome. METHOD: Ninety-five individuals, 41 with schizophrenia and 54 with Asperger syndrome, were included. Self-rating of adult ADHD symptoms with the Wender-Reimherr Adult Attention Deficit Diagnostic Rating Scale (WRAADDS), parent rating of proband's ADHD childhood and adult life symptoms using the Swanson, Nolan, and Pelham Questionnaire (SNAP), and report of clinical ADHD diagnosis were included as ADHD measures. Nicotine use data were compared with data from a population sample. RESULTS: In all, 10% of the schizophrenia group and 30% of the Asperger syndrome group had a clinical ADHD diagnosis. Nicotine dependency in the whole sample was closely linked to ADHD. CONCLUSION: The prevalence of comorbid ADHD was high in schizophrenia and Asperger syndrome. The WRAADDS self-rating scale for ADHD can be one useful tool for assessing comorbid ADHD in these patient groups.

ASSERT--the Autism Symptom SElf-ReporT for adolescents and adults: bifactor analysis and validation in a large adolescent population.

With a view to developing a brief screening instrument for autism symptoms in a general population of adolescents, seven items from the Asperger syndrome (and high-functioning autism) diagnostic interview were adapted for use as self-report in an online questionnaire for youths aged 16-19 years (N=10,220). The selected items target lack of social understanding (4 items) and rigid and repetitive behavior and interests (RRBI; 3 items). Factor analyses were performed, and the seven items were also validated against self-reported ASD diagnosis. Best statistical model fit was found for a bifactor model with one general factor and two domain specific factors tied to social difficulties and RRBI. Both the general and the domain specific factors were associated with self-reported ASD diagnoses. The scale (referred to as the Autism Symptom SElf-ReporT for Adolescents and Adults--ASSERT) had good screening properties with a receiver operating curve-area under the curve (ROC-AUC) of 0.87 and a diagnostic odds ratio (DOR) of 15.8. Applying a modified scoring of the scale further improved the screening properties leading to a ROC-AUC of 0.89 and a DOR of 24.9. The ASSERT holds promise as a brief self-report screen for autism symptoms in adolescents, and further studies should explore its usefulness for adults.

Adaptación y análisis psicométrico de la Escala Gilliam para evaluar trastorno de Asperger / Adaptation and psychometric analysis of the Gilliam Asperger’ Disorder Scale

La Escala Gilliam para evaluar Transtorno Asperger (Gilliam Asperger’s Disorder Scale, GADS) es una evaluación de calificación conductual, cuyo propósito es ayudar a que los profesionales diagnostiquen el Síndrome de Asperger (SA). Esta escala se utiliza para evaluar sujetos entre los 3 y 22 años y puede ser completada por cualquier persona que tenga contacto regular con un sujeto con SA. Los únicos estudios psicométricos queso conocen con resultados favorables son los de la muestra normativa. Es por esto que esta investigación intenta responder si la GADS conserva las propiedades psicométricas de la muestra normativa al aplicarla en la población chilena con SA. Se contó con una muestra no probabilística intencional compuesta por 36 sujetasen la fase piloto y 111 sujetos en la fase final. Las subescalas obtuvieron un alpha de Cronbach entre 0,73 y0,87, mientras que la escala global obtuvo 0,92. Se realizó un análisis factorial exploratorio, del cual se obtuvo una solución factorial de 8 factores en la fase final. Los resultados permiten concluir que la GADS cuenta con propiedades psicométricas adecuadas, lo que significa que es un instrumento confiable y válido para ser utilizado en la población chilena.

The Gilliam Asperger’s Disorder Scale (GADS) is a norm-referenced assessment designed to help professionals in Asperger Syndrome (AS) diagnosis. This scale is used to evaluate subjects between 3 and 22 years old and it can be completed by anyone who has regular contact with a subject with AS. The only known psychometric studies with positive results are those of the normative sample. Thus this research attempts to explain whether GADS retains the psychometric properties of the normative sample when applied to the Chilean population with AS. To this purpose it was selected a probabilistic intentional sample compose of 36 subjects in the pilot phase and 111 subjects in the final phase. The subscales obtained a Cronbach’s alpha between 0,73 and 0,87, while the global scored 0,92. It was carried out an exploratory factor analysis, thought which it was obtained a factor solution of 8 in the final phase. The results obtained allow to conclude that GADS has adequate psychometric properties, which means GADS is a valid and reliable instrument to be applied to Chilean population.

A clinico-radiological phenotype of voltage-gated potassium channel complex antibody-mediated disorder presenting with seizures and basal ganglia changes.

In childhood, central nervous system (CNS) presentations associated with antibodies to voltage-gated potassium channel (VGKC) complex include limbic encephalitis, status epilepticus, epileptic encephalopathy, and autistic regression. We report the cases of two individuals (a 6-year-old male and an 11-year-old female) who presented with an acute-onset explosive seizure disorder with positive VGKC complex antibodies and bilateral basal ganglia changes on magnetic resonance imaging (MRI). Both patients made a complete clinical recovery, without immunotherapy, with resolution of the MRI changes and normalization of the antibody levels. Extended antibody testing, including testing for leucine-rich glioma-inactivated 1 (LGI1), contactin-associated protein 2, and contactin-2 was negative. This could suggest that the clinico-radiological phenotype in our patients may in fact be associated with a novel autoreactive target(s) within the VGKC complex, as may be the case in other children with VGKC complex-mediated CNS disorders.

Plasma antioxidant capacity is reduced in Asperger syndrome.

Recent evidence suggests that children with autism have impaired detoxification capacity and may suffer from chronic oxidative stress. To our knowledge, there has been no study focusing on oxidative metabolism specifically in Asperger syndrome (a milder form of autism) or comparing this metabolism with other psychiatric disorders. In this study, total antioxidant status (TAOS), non-enzymatic (glutathione and homocysteine) and enzymatic (catalase, superoxide dismutase, and glutathione peroxidase) antioxidants, and lipid peroxidation were measured in plasma or erythrocyte lysates in a group of adolescent patients with Asperger syndrome, a group of adolescents with a first episode of psychosis, and a group of healthy controls at baseline and at 8-12 weeks. TAOS was also analyzed at 1 year. TAOS was reduced in Asperger individuals compared with healthy controls and psychosis patients, after covarying by age and antipsychotic treatment. This reduced antioxidant capacity did not depend on any of the individual antioxidant variables measured. Psychosis patients had increased homocysteine levels in plasma and decreased copper and ceruloplasmin at baseline. In conclusion, Asperger patients seem to have chronic low detoxifying capacity. No impaired detoxifying capacity was found in the first-episode psychosis group in the first year of illness.

Autism spectrum disorders in childhood: a clinical update.

Autism spectrum disorders refer to a range of conditions such as autism disorder and Asperger syndrome that may affect about 1% of children in the UK. This paper aims to consider diagnosis and to provide an overview of potentially useful therapies and support.

Autism spectrum disorders according to DSM-IV-TR and comparison with DSM-5 draft criteria: an epidemiological study.

OBJECTIVE: The latest definitions of autism spectrum disorders (ASDs) were specified in DSM-IV-TR in 2000. DSM-5 criteria are planned for 2013. Here, we estimated the prevalence of ASDs and autism according to DSM-IV-TR, clarified confusion concerning diagnostic criteria, and evaluated DSM-5 draft criteria for ASD posted by the American Psychiatry Association (APA) in February 2010. METHOD: This was an epidemiological study of 5,484 eight-year-old children in Finland, 4,422 (81%) of them rated via the Autism Spectrum Screening Questionnaire by parents and/or teachers, and 110 examined by using a structured interview, semi-structured observation, IQ measurement, school-day observation, and patient records. Diagnoses were assigned according to DSM-IV-TR criteria and DSM-5 draft criteria in children with a full-scale IQ (FSIQ) ≥50. Patient records were evaluated in children with an FSIQ <50 to discover diagnoses of ASDs. RESULTS: The prevalence of ASDs was 8.4 in 1,000 and that of autism 4.1 in 1,000 according to DSM-IV-TR. Of the subjects with ASDs and autism, 65% and 61% were high-functioning (FSIQ ≥70), respectively. The prevalence of pervasive developmental disorder not otherwise specified was not estimated because of inconsistency in DSM-IV-TR criteria. DSM-5 draft criteria were shown to be less sensitive in regard to identification of subjects with ASDs, particularly those with Asperger's syndrome and some high-functioning subjects with autism. CONCLUSIONS: DSM-IV-TR helps with the definition of ASDs only up to a point. We suggest modifications to five details of DSM-5 draft criteria posted by the APA in February 2010. Completing revision of DSM criteria for ASDs is a challenging task.

[A case of Asperger's disorder with catatonia originally suspected of being catatonic schizophrenia].

We report the case of an adolescent male who presented with mutism, immobility, catalepsy, and mannerisms. The patient was admitted to our hospital with suspected catatonic schizophrenia; however, he was subsequently diagnosed with catatonia due to Asperger's disorder. The patient was a 16-year-old male. More than six months before presentation, his grandfather displayed bizarre and violent behavior. Subsequently, he began to experience catatonia, which eventually led to hospitalization. Treatment with diazepam improved his condition and, as no causal disorders other than Asperger's disorder were identified, he was diagnosed with catatonia. The patient had experienced persistent abuse by his mother during childhood; therefore, it is important to consider reactive attachment disorder (DSM-IV-TR) as a differential diagnosis. Among child and adolescent psychiatrists, catatonia is considered to occur at a high frequency among patients with autistic spectrum disorders. In contrast, general psychiatrists tend to consider catatonia as related to schizophrenia, which may be the reason why the diagnosis of our patient was difficult. We assume that the pathogenesis of catatonia in this case was death mimicry due to the subjective perception of a life-threatening situation. For the treatment of catatonia with autistic spectrum disorders, the efficacy of benzodiazepines and electroconvulsive therapy has been established. When a patient with an autistic spectrum disorder presents with motor functional disturbances, it is important to consider these disturbances as catatonia. Furthermore, it is also important to begin the treatment mentioned above even in the presence of definite psychogenic or situational factors.

Use of Gilliam Asperger's disorder scale in differentiating high and low functioning autism and ADHD.

Little is known about the validity of Gilliam Asperger's Disorder Scale (GADS), although it is widely used. This study of 199 children with high functioning autism or Asperger's disorder, 195 with low functioning autism, and 83 with attention deficit hyperactivity disorder (ADHD) showed high classification accuracy (autism vs. ADHD) for clinicians' GADS Quotients (92%), and somewhat lower accuracy (77%) for parents' Quotients. Both children with high and low functioning autism had clinicians' Quotients (M=99 and 101, respectively) similar to the Asperger's Disorder mean of 100 for the GADS normative sample. Children with high functioning autism scored significantly higher on the cognitive patterns subscale than children with low functioning autism, and the latter had higher scores on the remaining subscales: social interaction, restricted patterns of behavior, and pragmatic skills. Using the clinicians' Quotient and Cognitive Patterns score, 70% of children were correctly identified as having high or low functioning autism or ADHD.

Adaptación, aplicación y evaluación de un programa en reconocimiento, manejo y expresión de emociones en niños con Síndrome de Asperger y sus padres / Adaptation, implementation and evaluation of a program in recognition, management and expression of emotions in children with Asperger Syndrome and their parents

El Síndrome de Asperger (SA) es un trastorno generalizado del desarrollo en el cual se encuentran afectadas diversas áreas de funcionamiento en el niño. En el área del desarrollo socio-emocional se encuentran algunas de sus principales dificultades, donde se describe un déficit en la regulación emocional, es decir en los niños con este síndrome, se aprecian dificultades tanto en el reconocimiento, como la expresión y manejo de las emociones. Lo que implica consecuencias negativas tanto en su desarrollo personal como en la interacción con pares y adultos. Es por esto que el presente artículo describe la adaptación al contexto nacional, del programa Exploring Feelings de Tony Attwood, centrado en la exploración emocional, la implementación experimental y la evaluación de resultados de éste. A través de este estudio se espera aportar a la escasa evidencia disponible acerca de tratamientos psicológicos con niños con SA, junto con aportar con técnicas terapéuticas, basadas en la evidencia y especialmente diseñadas para niños con SA, que queden disponibles para profesionales de la salud mental. El programa realizado para efectos de esta investigación consiste en 10 sesiones individuales de terapia cognitivo-conductual realizadas a 10 niños entre 8 y 12 años con SA, y 6 sesiones grupales de carácter psicoeducativo con los padres Los resultados indicaron diferencias estadísticamente significativas entre el grupo experimental y control, en donde en el primer grupo se obtuvieron cambios tanto en el aumento de la frecuencias de conductas observadas por los padres que implicaban una mejor regulación emocional, como en la cantidad y calidad de las respuestas otorgadas por los niños que implicaban un mejor manejo de la ansiedad y la rabia.

Asperger Syndrome (AS) is a pervasive developmental disorder in which there are affected several functional areas. Some of the main difficulties are located in the socio-emotional developmental area, and there are some descriptions about a deficit in emotion regulation, in children with this syndrome can be seen difficulties both in the recognition, the expression and control of emotions. This problem brings negative consequences in the personal development of the child, and also in the interaction with peers and adults. That is the reason this article describes the adaptation of Exploring Feelings by Tony Attwood to the national context, focusing on emotional exploration, experimental implementation and evaluation of outcome. This study is expected to contribute to the limited available evidence about psychological treatments with children with AS, and also to provide therapeutic evidence-based techniques, specially designed for children with AS, which are available for mental health professionals. The program made for the purpose of this research consists of 10 individual sessions of cognitive-behavioral therapy conducted for 10 children between 8 and 12 with AS, and 6 psychoeducational group sessions with parents. The results indicated statistically significant differences between the experimental and control group, where the first group had changes in the increased frequency of behaviors observed by parents involving a better emotional regulation, and the quantity and quality of answers given by children involving better management of anxiety and anger.

[French version of screening questionnaire for high-functioning autism or Asperger syndrome in adolescent: Autism Spectrum Quotient, Empathy Quotient and Systemizing Quotient. Protocol and questionnaire translation]. / Version française des questionnaires de dépistage de l'autisme de haut niveau ou du syndrome d'Asperger chez l'adolescent : Quotient du spectre de l'autisme, Quotient d'empathie, et Quotient de systématisation. Protocole et traduction des questionnaires.

AIM: No tools are currently available in France, for the detection of autism without mental retardation (high functioning autism and Asperger syndrome here referred as TED SDI). Use of screening tests by first-line clinicians would allow better detection of children who are likely to display such difficulties and to improve patients' care. In England, 3 questionnaires have been evaluated: Autism Spectrum Quotient (AQ), Empathy Quotient (EQ), and Systemizing Quotient (SQ). This is the translation and evaluation of 3 questionnaires in France for TED SDI and control adolescents. METHODS: The translation of the questionnaires into French required two simultaneous translations, two back-translations and two consensus meetings. This is a cross-sectional study comparing scores obtained with the three AQ, EQ and SQ questionnaires. These questionnaires were completed by the parents of four groups of adolescents 11-18 years: 100 TED SDI adolescents (50 with IQ ≥ 85 and 50 with 70≤IQ<85), 50 adolescents with another psychiatric disorder (TP) and 200 control adolescents (T). RESULTS: 580 questionnaires have been sent to 40 recruiting centres. By the 28th of February, 2010, 277 completed questionnaires were received completed (TED SDI: 70 (70%); TP: 25 (50%) et T: 182 (91%)). In the control group, 92 girls (mean 14.4±1.7 years) and 66 boys (14.5±1.7 years) were recruited. In the TED SDI group, 4 girls (14.3±2.4 years) and 42 boys (14.5±1.7 years) were recruited. One girl (81) and 6 boys (72.2±7.7) have an IQ between 70 and 85, and 3 girls (95.3±4.2) and 36 boys (102.9±12) have an IQ higher than 85. In the TP group, 9 girls (15.9±1.7 years) and 4 boys (15.8±1.9 years) were recruited. CONCLUSION: The aim of this study is to make the AQ, EQ and SQ questionnaires available in French for French speaking clinicians. This study will allow a rigorous evaluation of the usefulness of the AQ questionnaire in the screening of TED SDI in adolescents.

Basic reading skills in Swedish children with late developing language and with or without autism spectrum disorder or ADHD.

Reading skills at age 7-8 years were examined in a community-representative sample of 21 screened and clinically examined children with language delay (LD) followed prospectively from 2.5 years of age. The present study aimed to (1) determine whether these children with a history of LD had deficits in basic reading skills, i.e. decoding and comprehension, compared to the age norms of standardized tests, (2) analyze if there was a relationship between reading outcome and neuropsychiatric diagnosis by comparing three subgroups of children, LD pure, LD+ASD (autism spectrum disorder) and LD+ADHD, and, (3) determine what language measures at age 6 years were associated with the 7-8-year reading outcome. Both decoding and comprehension of single word reading were significantly below the norm for the whole LD group, where children with LD+ASD scored lowest, and children with LD highest. However, the differences between the three groups did not reach significance. Two reader groups were identified according to the results of word decoding and comprehension, respectively, resulting in the same 7 children. ANOVA revealed that the only differences on the 6-year language tests between the two groups were found on color naming and word memory. This study has shown that children with LD and subsequently identified neurodevelopmental problems such as ASD and ADHD experience continued deficits, demonstrated also in reading skills and that the picture of the reading problems seemed to resemble those of typically developing children.

Problems and limitations in studies on screening for language delay.

This study discusses six common methodological limitations in screening for language delay (LD) as illustrated in 11 recent studies. The limitations are (1) whether the studies define a target population, (2) whether the recruitment procedure is unbiased, (3) attrition, (4) verification bias, (5) small sample size and (6) inconsistencies in choice of "gold standard". It is suggested that failures to specify a target population, high attrition (both at screening and in succeeding validation), small sample sizes and verification bias in validations are often caused by a misguided focus on screen positives (SPs). Other limitations are results of conflicting methodological goals. We identified three such conflicts. One consists of a dilemma between unbiased recruitment and attrition, another between the comprehensiveness of the applied gold standard and sample size in validation and the third between the specificity of the gold standard and the risk of not identifying co-morbid conditions.

The prevalence of autism spectrum disorders: impact of diagnostic instrument and non-response bias.

BACKGROUND: A large part of the variability in rates of autism spectrum disorders (ASD) across studies is non-aetiologic, and can be explained by differences in diagnostic criteria, case-finding method, and other issues of study design. AIM: To investigate the effects on ASD prevalence of two methodological issues; non-response bias and case ascertainment. We compared the findings of using a semi-structured parent interview versus in-depth clinical assessment, including an ASD specific interview. We further explored whether including information on non-responders affected the ASD prevalence estimate. METHOD: A total population of 7- to 9-year olds (N = 9,430) was screened for ASD with the autism spectrum screening questionnaire (ASSQ) in the Bergen Child Study (BCS). Children scoring above the 98th percentile on parent and/or teacher ASSQ were invited to participate in the second and subsequently in the third phase of the BCS where they were assessed for ASD using the Development and Well-Being Assessment (DAWBA), and the Diagnostic Interview for Social and Communication disorders (DISCO), respectively. RESULTS: Clinical assessment using DISCO confirmed all DAWBA ASD cases, but also diagnosed additional cases. DISCO-generated minimum prevalence for ASD was 0.21%, whereas estimated prevalence was 0.72%, increasing to 0.87% when adjusting for non-responders. The DAWBA estimate for the same population was 0.44%. CONCLUSION: Large variances in prevalence rates across studies can be explained by methodological differences. Both information about assessment method and non-response are crucial when interpreting prevalence rates of ASD.