Case histories of a mother and her two children are reported. The mother was a recovered alcoholic. She and her two children, both of whom had symptoms that are typical of autistic spectrum disorder, had  dysautonomia. All had intermittently abnormal erythrocyte transketolase studies indicating abnormal thiamine pyrophosphate homeostasis. Both children had unusual concentrations of urinary arsenic. All had symptomatic improvement with diet restriction and supplementary vitamin therapy but quickly relapsed  after ingestion of sugar, milk, or wheat. The stress of a heavy metal burden, superimposed on existing genetic or epigenetic risk factors, may be important in the etiology of autism spectrum disorder when in combination. Dysautonomia has been associated with several diseases, including autism, without a common etiology. It is hypothesized that oxidative stress results in loss of cellular energy and causes retardation of hard wiring of the brain in infancy, affecting limbic system control of the autonomic nervous system.

Derrick Lonsdale

Raymond J. Shamberger

Mark E. Obrenovich

Dysautonomia in Autism Spectrum Disorder: Case Reports of a Family with Review of the Literature

Autism spectrum disorders (ASDs) have become increasingly common in recent years. The discovery of single-nucleotide polymorphisms and accompanying copy number variations within the genome has increased our understanding of the architecture of the disease. These genetic and genomic alterations coupled with epigenetic phenomena have pointed to a neuroimmunopathological mechanism for ASD. Model animal studies, developmental biology, and affective neuroscience laid a foundation for dissecting the neural pathways impacted by these disease-generating mechanisms. The goal of current autism research is directed toward a systems biological approach to find the most basic genetic and environmental causes to this severe developmental disease. It is hoped that future genomic and neuroimmunological research will be directed toward finding the road toward prevention, treatment, and cure of ASD.

Daniel J. Guerra

The Molecular Genetics of Autism Spectrum Disorders: Genomic Mechanisms, Neuroimmunopathology, and Clinical Implications

A possible role for sterols in the development of autism spectrum disorder (ASD) has not been proven, but studies in disorders of sterol biosynthesis, chiefly Smith-Lemli-Opitz syndrome (SLOS), enable hypotheses on a causal relationship to be discussed. Advances in genetic technology coupled with discoveries in membrane physiology have led to renewed interest for lipids in the nervous system. This paper hypothesizes on the role of sterol dysfunction in ASD through the framework of SLOS. Impaired sonic hedgehog patterning, alterations in membrane lipid rafts leading to abnormal synaptic plasticity, and impaired neurosteroid synthesis are discussed. Potential therapeutic agents include the development of neuroactive steroid-based agents and enzyme-specific drugs. Future investigations should reveal the specific mechanisms underlying sterol dysfunction in neurodevelopmental disorders by utilizing advanced imaging and molecular techniques.

Ryan W. Y. Lee

Elaine Tierney

Hypothesis: The Role of Sterols in Autism Spectrum Disorder

Objective. The purpose of the study was to compare the cognitive skills of young children diagnosed with autism spectrum disorder (ASD) to same-aged peers referred for possible developmental delays or behavioral concerns using the Bayley Scales of Infant Development-Third Edition. Method. A retrospective chart review was conducted of 147 children ages 16 to 38 months who were referred to a diagnostic clinic for developmental evaluation. Children with ASD were compared to those without ASD with respect to cognition and language outcomes, both overall and by age. 
Results. While language skills in children with ASD were more significantly delayed than language skills in children without ASD, there was less discrepancy in the cognitive skills of children with and without ASD. 
Conclusion. Formal cognitive assessment of children with ASD can provide guidance for developmental expectations and educational programming. Cognitive skills of children with ASD may be underappreciated.

Carolyn Long

Matthew J. Gurka

James Blackman

Cognitive Skills of Young Children with and without Autism Spectrum Disorder Using the BSID-III

The Social Cognitive Evaluation Battery (SCEB) is a new instrument for the psychological evaluation of children with autism. The battery consists of 16 scales that measure different cognitive and socioemotional functions. This study reports the results of a reliability analysis and some elements of validation. Analyses are based on the observed performance of 100 children with autism and a convenience sample of 35 normal children. Validation is based on the examination of the structure of the relations between the 16 scale scores of the SCEB, their relations with other measurements, the correspondence between the theoretical developmental ages, and the observed chronological ages and the SCEB&#39;s sensitivity to specific disorders. The results show that this new instrument is useful and relevant for the psychological assessment of children with autism.

Eric Thi&#233;baut

Jean-Louis Adrien

Romuald Blanc

Catherine Barthelemy

The Social Cognitive Evaluation Battery  for Children with Autism: A New Tool for the Assessment of Cognitive and Social Development in Children with Autism Spectrum Disorders

The present study investigated the effectiveness of combining Social Stories and Video Self-Modelling (VSM) to teach social skills to a three-year-old child with autism. A multiple-baseline across behaviors design revealed that video self-modelled Social Stories were effective at improving all three target behaviors: greeting, inviting to play, and contingent responding. In addition, these behaviors successfully generalized across settings, toys, and communication partners. Concomitant behavior changes, namely, increased levels of communicative behavior and levels of social engagement were also observed. These results support the effectiveness of video self-modelled Social Stories and illustrate the potential of combined intervention techniques for remedying the social deficits faced by this population.

Stacey Litras

Dennis W. Moore

Angelika Anderson

Using Video Self-Modelled Social Stories to Teach Social Skills to a Young Child with Autism

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Autism Research and Treatment publishes original research articles and&nbsp;review articles&nbsp;related to all aspects of autism.

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Autism Research and Treatment publishes original research articles and review articles related to all aspects of autism.

Autism Research and Treatment