Antecedentes perinatales y familiares en trastornos del espectro autista / Perinatal and family history in autism spectrum disorders

OBJETIVO: evaluar los factores de riesgo perinatales y las características parentales en los Trastornos del Espectro Autista (TEA). MÉTODO: Se compararon las condiciones obstétricas y las características parentales entre los TEA y dos grupos control sin TEA (unos del servicio de urgencias y el otro de las consultas de psiquiatría del niño y adolescente y del Hospital de Día). RESULTADOS: Hubo 20 pacientes en cada grupo (17 varones y 3 mujeres), con edades de 6-18 años. En el grupo de Trastornos Generalizados del Desarrollo (TGD) hubo 4 Trastorno Autista, 11 Trastorno de Asperger y 5 Trastorno del Espectro Autista no especificado (TGDNE). Técnicas de reproducción asistida en 20% del grupo TGD y 5% en el grupo control B. Todos los del grupo control A fueron gestaciones espontánea (p = 0.039). Hubo diferencias estadísticamente significativas en las enfermedades maternas entre grupo de casos y control A (p = 0.041). Parto fue por cesárea en el 65% del grupo TGD, 35% en el grupo control A y 25% en el grupo control B (p = 0.039). Hubo diferencias estadísticamente significativas en la historia psiquiátrica maternal y familiar entre los 3 grupos (p = 0.008 y p = 0.001). TGD fueron diagnosticados en el 30% de los familiares del grupo de TGD y en ninguno de los grupos controles (p = 0.01). CONCLUSIONES: Este estudio ha encontrado factores de riesgo obstétricos y características parentales relacionadas con TDG de acuerdo con la literatura. Futuro estudios deberían tratar de identificar factores obstétricos y entender su relación con procesos genéticamente influenciados en el desarrollo temprano

OBJECTIVE: To evaluate perinatal risk factors and parental characteristics in Autistic Spectrum Disorder (ASD). METHOD: Obstetric conditions and parental characteristics were compared between ASD and two control groups without ASD (one from emergency room and the other from psychiatry outpatient service and day-care hospital). RESULT: There were 20 patients in each group (17 boys and 3 girls), ages 6-18. The pervasive developmental disorder (PDD) case group had 4 Autistic, 11 Asperger's and 5 pervasive developmental disorder not otherwise specified (PDD-NOS). Assisted pregnancies in 20% of PDD case group and 5% of control group B. All control group A were spontaneous pregnancies (p = 0.039). Statistically significant differences in maternal disease between PDD case and control group A (p = 0.041). Delivered by cesarean section in 65% of PDD case group, against 35% control A group and 25% of control B group (p = 0.039). Statistically significant differences in family and maternal psychiatry history between three groups (p = 0.008 and p = 0.001). ASD has been diagnosed in 30% of relatives in PDD case group and none in control groups (p = 0.01). CONCLUSION: This study found some obstetric and parental risk factors related with ASD, according to the literature. Future research should attempt to identify obstetric factors and understand their relationship with different genetically influenced processes in early development

Parental obesity and risk of autism spectrum disorder.

OBJECTIVES: The objective of the study was to investigate the associations among maternal prepregnancy BMI, paternal BMI, and the risk of autism spectrum disorders (ASDs) in children. METHODS: The study sample of 92 909 children was derived from the population-based, prospective Norwegian Mother and Child Cohort Study. The age range was 4.0 through 13.1 (mean 7.4) years. Relative risks of ASDs were estimated by odds ratios (ORs) and 95% confidence intervals (CIs) from logistic regression models. RESULTS: At the end of follow-up on December 31, 2012, 419 children in the study sample had been diagnosed with ASDs: 162 with autistic disorder, 103 with Asperger disorder, and 154 with pervasive developmental disorder not otherwise specified. Maternal obesity (BMI ≥30) was only weakly associated with ASD risk, whereas paternal obesity was associated with an increased risk of autistic disorder and Asperger disorder. The risk of autistic disorder was 0.27% (25 of 9267) in children of obese fathers and 0.14% (59 of 41 603) in children of fathers with normal weight (BMI <25), generating an adjusted OR of 1.73 (95% CI: 1.07-2.82). For Asperger disorder, analyses were limited to children aged ≥7 years (n = 50 116). The risk was 0.38% (18 of 4761) in children of obese fathers and 0.18% (42 of 22 736) in children of normal-weight fathers, and the adjusted OR was 2.01 (95% CI: 1.13-3.57). No associations were found for pervasive developmental disorder not otherwise specified. CONCLUSIONS: Paternal obesity is an independent risk factor for ASDs in children. The associations should be investigated further in genetic and epigenetic studies.

Autism spectrum disorders in IVF children: a national case-control study in Finland.

STUDY QUESTION: Does IVF increase the risk of autism spectrum disorders (ASDs)? SUMMARY ANSWER: No association between IVF and ASDs or any of its subtypes was found in this sample. WHAT IS KNOWN ALREADY: Certain prenatal factors may increase the risk of ASDs. Studies on the association between IVF and ASDs have shown inconsistent results. IVF is known to increase the risk of perinatal problems but many of them are related to multiple pregnancies. STUDY DESIGN, SIZE, DURATION: This case-control study included 4164 autistic cases and 16 582 matched controls born in Finland in 1991-2005. The cases were diagnosed with ASDs by the year 2007. The maximum age at diagnosis was 16 years. PARTICIPANTS/MATERIALS, SETTING, METHODS: Four controls were matched to each case. For singletons the matching criteria were date of birth, place of birth, sex and residency in Finland. For twins the birth order within a twin pair was included as well. In the whole sample, there were 63 cases (1.51%) and 229 controls (1.38%) born after IVF. MAIN RESULTS AND THE ROLE OF CHANCE: No significant association was found between IVF and ASDs (adjusted odds ratio (OR): 0.9, 95% confidence interval (CI): 0.7-1.3) or its subtypes childhood autism (OR: 0.8, 95% CI: 0.4-1.5), Asperger's syndrome (OR: 0.9, 95% CI: 0.5-1.6) or other pervasive developmental disorder (OR: 1.0, 95% CI: 0.6-1.6). When only singletons were included, there was an association between IVF and Asperger's syndrome in an unadjusted analysis (OR: 2.0, 95% CI: 1.1-3.5) but this was not significant when adjusted for mother's socioeconomic status or parity. When the analyses were conducted separately for boys and girls, there was a significant association between IVF and Asperger's syndrome for boys in an unadjusted analysis (OR: 2.1, 95% CI: 1.2-3.7) but this was not significant in the final adjusted model. LIMITATIONS, REASONS FOR CAUTION: Information both on IVF and on ASDs was based on registers and it is possible that there is some misclassification. No information on different subtypes of IVF or other assisted reproduction techniques was available. Statistical power may have been insufficient. WIDER IMPLICATIONS OF THE FINDINGS: This study showed no increased risk of ASDs in children born after IVF but studies with larger sample sizes and information on different subtypes of IVF are needed to confirm the finding. STUDY FUNDING/COMPETING INTEREST(S): The study was supported by Autism Speaks, NIMH 1K02-MH65422 and NIEHS 1R01ES019004. There are no competing interests.

Brief report: Asperger's syndrome and sibling birth order.

Prior investigations suggest that birth order position may be associated with the risk for developing a pervasive developmental disorder. This retrospective chart review examined the birth order status of 29 psychiatrically-referred patients with Asperger's Syndrome (AS). Eighty-six percent of the subjects were first born. The finding was statistically significant when compared to an expected random distribution of AS subjects χ(2) (1, N = 29) = 9.18, p < 0.01. The reasons for such an association are unclear though birth stoppage, obstetric complications, and immunological mechanisms may play a role.

Is an adult with Asperger syndrome sitting in your waiting room?

The prevalence of Asperger syndrome, a mild form of autism, appears to be rapidly increasing. This developmental disorder affects children and adults and can present challenges to providing medical care. In this update on Asperger syndrome, we offer guidance on how to interact with adult patients with the disorder. We also address proposed diagnostic changes scheduled to take effect in 2013.

The association between the social and communication elements of autism, and repetitive/restrictive behaviours and activities: a review of the literature.

Research continues to try and pinpoint the etiological role of particular genes and brain structure in autistic spectrum disorder (ASD), but despite a host of biological, genetic and neuropsychological research, the symptom profile of pervasive developmental disorders (PDDs) are not yet linked to etiological theory. Debate continues around whether or not there is one single dimension that incorporates the three criteria domains of social difficulties, communication deficits and repetitive or restrictive interests and behaviours as a unitary 'ASD' concept, or whether PDD as they are currently described represent the co-occurrence of separate sub-domains of developmental difficulties. Although the three criteria need to be met for a diagnosis of PDD to be made, the association between them remains unclear. This review highlights that the majority of the literature that looks at the triad of impairments suggests the symptom structure does not match that proposed by diagnostic manuals, and that the triad may no longer fit as the best way to conceptualize ASD.

Risk factors for autism and Asperger syndrome. Perinatal factors and migration.

Using the Swedish Medical Birth Registry (MBR), obstetrical and demographic information was retrieved for 250 children with autism or Asperger syndrome who were born in Malmoe, Sweden, and enrolled at the local Child and Youth Habilitation Center. The reference group consisted of all children born in Malmoe during 1980-2005. Obstetric sub-optimality (prematurity, low Apgar scores, growth restriction, or macrosomia) was positively associated with autism but not with Asperger syndrome. Maternal birth outside the Nordic countries was positively associated with autism (adjusted OR: 2.2; 95%CI: 1.6-3.1) and negatively associated with Asperger syndrome (OR: 0.6; 95%CI: 0.3-0.97). The highest risk estimate for autism was found among children to women who were born in sub-Saharan Africa (OR: 7.3), or in East Asia (OR: 3.4).

Exploring the relation between prenatal and neonatal complications and later autistic-like features in a representative community sample of twins.

Prenatal and neonatal events were reported by parents of 13,690 eighteen-month-old twins enrolled in the Twins Early Development Study, a representative community sample born in England and Wales. At ages 7-8, parents and teachers completed questionnaires on social and nonsocial autistic-like features and parents completed the Childhood Asperger Syndrome Test. Correlations between prenatal and neonatal events and autistic-like features were weak, both in the whole sample (r = .00-.07) and at the 5% quantitative extreme (phenotypic group correlations = .01-.11), after controlling for socioeconomic status and cognitive ability. Neonatal problems showed modest heritability (13%-14%) and significant shared and nonshared environmental influences (55%-59% and 28%-31%, respectively). Differences in identical twins' neonatal problems correlated weakly with their difference scores on autistic-like features (r = .01-.06).

Caring for children with autism spectrum disorder. Part I: prevalence, etiology, and core features.

Autism spectrum disorder (ASD) affects 1 in 150 children and has been gaining national attention over the past decade. Given the prevalence of this disorder, there is a high probability that pediatric nurses will care for a child with ASD, regardless of the setting in which they work. Children with ASD traverse the primary care outpatient setting, schools, subspecialty clinics, and inpatient units. A basic understanding of the current issues regarding prevalence and etiology, coupled with knowledge of the core features of ASD, will help pediatric nurses in all settings and at various practice levels better care for these children.

Asperger syndrome.

Asperger syndrome (AS) is a chronic neurodevelopmental disorder of social interaction, communication, and a restricted range of behaviors or interests. Although not generally associated with intellectual disability, the severe social disability and, in many cases, associated mental health and other medical problems, result in disability throughout life. The diagnosis is often delayed, sometimes into adulthood, which is unfortunate because there are now a range of interventions available, and the current evidence supports intervention starting as early in childhood as possible. The aim of this review is to present a description of AS, an up to date synopsis of the literature pertaining to its etiology, co-morbidity and intervention options, and a discussion of current nosological controversies.

Uma breve revisão histórica sobre a construção dos conceitos do Autismo Infantil e da síndrome de Asperger: [revisão] / A brief historic review of the conceptions of Autism and Asperger syndrome: [review]

O objetivo deste estudo foi revisar historicamente os conceitos do Autismo Infantil e da síndrome de Asperger. Por meio de revisão de literatura os autores buscaram mostrar as modificações, ao longo do tempo, das concepções teóricas e das descrições clínicas destes quadros.

The aim of this study was to review historically the concepts of Autism and Asperger syndrome. Through literature review, the authors evidence the changes on theoretical concepts and clinical descriptions of Autism and Asperger syndrome with time.

Recent advances in autism spectrum disorders.

OBJECTIVE: This review article provides an overview of the most recent developments in the literature regarding autism spectrum disorders including epidemiology, etiology, assessment, and management/treatment. METHOD: A review of the recent literature was conducted using Medline and the search term "Autism Spectrum Disorders." RESULTS: Autism Spectrum Disorders are more common than previously believed (1 in 166), and etiology appears to be multifaceted including both heritable and non-heritable factors. State of the art treatment includes comprehensive medical monitoring as well as behavioral intervention. CONCLUSIONS: Current and anticipated federal funding, policy changes, and large scale research projects provide promise for increasing knowledge about Autism Spectrum Disorders.

A twin study investigating the genetic and environmental aetiologies of parent, teacher and child ratings of autistic-like traits and their overlap.

In the present study we investigated phenotypic agreement between informants (parent, teacher and child self-report) on ratings of autistic-like traits and compared the genetic and environmental aetiologies of the informants' ratings and of their covariance. Parents and teachers of >2,500 pairs from a community twin sample completed an abbreviated Childhood Asperger Syndrome Test (CAST). The twins also completed an adapted self-report version of the CAST. Structural equation model-fitting was carried out. Correlations between raters were significant but moderate (0.16-0.33). The magnitude of heritability estimates of autistic-like traits varied across raters, being highest for parent-rated autistic-like traits (82-87%) and more modest for child self-reported autistic-like traits (36-47%). Genetic overlap was significant but moderate across all raters. These findings are discussed in relation to population screening for autism and future genetic research.

[Autism spectrum disorders. Current knowledge and importance for ENT specialists]. / Autistische Kommunikationsstörungen. Aktueller Wissensstand und Bedeutung für HNO-Arzte.

Autism is a behavioural syndrome, present from early life and defined by deficient social interaction, language and communication, and play. Variations in symptomatology and in prognosis among characteristic persons display a variety of other signs such as attention deficits, mental retardation and seizures that are not specific to autism and that denote dysfunction in other brain systems. Its aetiology is unknown in the vast majority of cases. There is a small minority of persons in whom autism has a known aetiology, such as fragile X chromosome abnormality, congenital rubella, tuberous sclerosis and a variety of structural abnormalities and metabolic diseases of the brain. A causal treatment is so far not possible, and there remains a regrettable lack of evaluated treatment standards. Prognosis depends on many factors, most notably the limiting factor provided by the severity of the underlying brain dysfunction and its consequences for communication, cognition and other behaviour. ENT specialists are confronted with children, adolescents and even adults in whom autistic disease has already been diagnosed in the course of investigations/treatment. If the suspicion of hearing impairment as the cause of problems in daily life is not confirmed in a patient not hitherto known to have autism ENT specialists should also consider autism in the differential diagnosis. In this report the diagnostic and therapeutic strategies currently applied for autism and its importance for ENT specialists are presented.

Maternal and paternal age and risk of autism spectrum disorders.

OBJECTIVE: To explore the association between maternal and paternal age and risk of autism spectrum disorders (ASDs) in offspring. DESIGN: Historical birth cohort study. SETTING: Kaiser Permanente (KP) in Northern California. PARTICIPANTS: All singleton children born at KP from January 1, 1995, to December 31, 1999, were included in the study. We identified 593 children who had ASD diagnoses (International Classification of Diseases, Ninth Revision, Clinical Modification, code 299.0 or 299.8) recorded 2 or more times in KP outpatient databases before May 2005. These children were compared with all 132,251 remaining singleton KP births. Main Exposures Maternal and paternal age at birth of offspring. MAIN OUTCOME MEASURES: Relative risks (RRs) estimated from proportional hazards regression models. Risk of ASDs evaluated in relation to maternal and paternal age, adjusted for each other and for the sex, birth date, and birth order of the child, maternal and paternal educational level, and maternal and paternal race/ethnicity. RESULTS: Risk of ASDs increased significantly with each 10-year increase in maternal age (adjusted RR, 1.31; 95% confidence interval [CI], 1.07-1.62) and paternal age (RR, 1.28; 95% CI, 1.09-1.51). Adjusted RRs for both maternal and paternal age were elevated for children with autistic disorder (maternal age: RR, 1.18; 95% CI, 0.87-1.60; paternal age: RR, 1.34; 95% CI, 1.06-1.69) and children with Asperger disorder or pervasive developmental disorder not otherwise specified (maternal age: RR, 1.45; 95% CI, 1.09-1.93; paternal age: RR, 1.24; 95% CI, 0.99-1.55). Associations with parental age were somewhat stronger for girls than for boys, although sex differences were not statistically significant. CONCLUSION: Advanced maternal and paternal ages are independently associated with ASD risk.

[Neurological background of Asperger's disorder and other pervasive developmental disorders].

The core features of pervasive developmental disorder (PDD) are impairment in social interaction and restricted ranges of interest and activities with obsessive/compulsive traits. Clinical characteristics of PDD range across a variety of psychophysiological areas, from vigilance and autonomic arousal through attention to higher cognitive functions such as memory and language. The author reviewed hypotheses on the neurological background of PDD, which includes brainstem, cerebellum, prefrontal cortex, mirror neuron system, and amygdala and related circuit. Among them, the amygdala hypothesis appears to be most successful in explaining the core feature of PDD, i.e. social impairment. It is expected that advance in cognitive neuroscience on social behavior will clarify the link between neurological and clinical findings of Asperger's disorder.

[Environmental factors in Asperger syndrome].

This paper reviews what is currently known about the environmental factors in Asperger syndrome that is a neurodevelopmental disorder of genetic origins. Its characteristics tend to occur in families of those with the syndrome. The rate of complications during pregnancy or the neonatal period in the patients with Asperger syndrome was about the same as that in the control group. It is true that their involvement in their outer world could not influence the core social deficits very much. But it might facilitate the appearance of the second symptoms such as dissociation, anxiety, depression, persecutory delusion as well as antisocial behavior including serious criminal acts.