Essential versus complex autism: Definition of fundamental prognostic subtypes

  title={Essential versus complex autism: Definition of fundamental prognostic subtypes},
  author={Judith H. Miles and T.N. Takahashi and Sheila Mary Bagby and P K Sahota and Dale F Vaslow and C.H. Wang and Richard E. Hillman and Janet E. Farmer},
  journal={American Journal of Medical Genetics Part A},
Heterogeneity within the autism diagnosis obscures the genetic basis of the disorder and impedes our ability to develop effective treatments. [] Key Method" From 1995 to 2001, 260 individuals who met DSM-IV criteria for autistic disorder were examined. Five percent (13/260) were microcephalic and 16% (41/260) had significant physical anomalies. Individually, each trait predicted a poorer outcome. Together they define the "complex autism" subgroup, comprising 20% (46/233) of the total autism population…

Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach

The syndromic versus nonsyndromic designation should ultimately be replaced by classification of ASD according to its genetic etiology, which will inform about the associated spectrum and penetrance of neurobehavioral and somatic manifestations.

Minor physical anomalies in autism: a meta-analysis

The current results provide the strongest evidence to date about the close association between MPAs and autism and suggest that the success of future autism genetics research will be exploited by the use of MPAs.

An etiologic classification of autism spectrum disorders.

Differences in gender and clinical and diagnostic features were found when etiology was used to create subtypes of ASD, and this classification could have heuristic importance in the search for an autism gene(s).

Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD)

Autism spectrum disorder (ASD) consists of a genetically heterogenous group of neurobehavioral disorders characterized by impairment in three behavioral domains including communication, social

Identification of Essential, Equivocal and Complex Autism by the Autism Dysmorphology Measure: An Observational Study

The Autism Dysmorphology Measure is designed for non-expert clinicians. It uses an algorithm to assess 12 body regions and categorizes Autism on the number of dysmorphic regions identified; Essential

Autism spectrum disorders—A genetics review

  • J. Miles
  • Biology, Psychology
    Genetics in Medicine
  • 2011
The current emphasis on deciphering autism spectrum disorders has accelerated the field of neuroscience and demonstrated the necessity of multidisciplinary research that must include clinical geneticists both in the clinics and in the design and implementation of basic, clinical, and translational research.

State of the Field: Differentiating Intellectual Disability From Autism Spectrum Disorder

Findings are found that a diagnosis of ID in the context of an ASD diagnosis may be one of the strongest indicators that an associated condition or specific etiological factor is present (i.e., secondary autism).

Developmental functioning and medical Co‐morbidity profile of children with complex and essential autism

Determining this distinction in autism may have implications in prognosis, identifying medical co‐morbidities, directing diagnostic evaluations and treatment interventions, and thus underlines the importance of looking for microcephaly and dysmorphology, when evaluating a child with autism.

Phenomic determinants of genomic variation in autism spectrum disorders

The findings indicate increased prevalence of pCNVs in subjects with microcephaly and the relationship between parental ages at delivery and CNV load and pathogenicity was also explored.


The fact that the authors can now name possible genes for this disorder reflects how quickly understanding is progressing, and the problem of determining which are the real genes remains.

Value of a clinical morphology examination in autism.

It is postulate that the phenotypically normal subgroup of individuals with "idiopathic autism" is genetically different from the phenotypesically abnormal individuals and that differences in the sex ratio in different autism populations is one indicator of a population's genetic heterogeneity.

Autism and genetics. A decade of research.

Results of family studies support aPutative biochemical marker, low levels of plasma dopamine-beta-hydroxylase, and a putative cognitive marker, ie, normal visuospatial but low verbal functioning, in autism, which is offered as one explanation of the observed sex difference in the prevalence of autism.

Behavioral phenotypic variation in autism multiplex families: evidence for a continuous severity gradient.

In a sample of 171 autism multiplex families, there was no evidence of discrete behaviorally defined subgroups of affected individuals or families characterized by distinct patterns of behavioral symptoms, and cluster analyses showed that the clusters could be characterized along a single, heritable, continuous severity dimension.

Symptom domains in autism and related conditions: evidence for familiality.

The features identified as familial replicate the combined set suggested in earlier, smaller studies and extend to related conditions of milder severity than autism and appear to be independent.

High phenotypic correlations among siblings with autism and pervasive developmental disorders.

Examination of familial factors influencing clinical variation in sibships that contained at least 2 children affected with autism or another form of pervasive developmental disorder indicates that variation in severity of PDD is influenced by familial, and probably genetic, mechanisms.

Handbook of Autism and Pervasive Developmental Disorders

Partial table of contents: DIAGNOSIS AND CLASSIFICATION Rett's Syndrome: A Pervasive Developmental Disorder (R. Van Acker) DEVELOPMENT AND BEHAVIOR Social Development in Autism (F. Volkmar et al.)

A broader phenotype of autism: the clinical spectrum in twins.

The diagnostic boundaries of the behavioural phenotype for autism were examined in 28 MZ pairs and 20 DZ same-sex twin pairs, where one or both twins had autism. In the non-autistic cotwin (i.e. in

Head circumference is an independent clinical finding associated with autism.

Each clinical subgroup of autism propositi, defined on the basis of phenotypic status, type of onset, seizure history, or IQ, had a higher than normal mean OFC indicating that macrocephaly is an independent clinical trait in autism.

The Autism Diagnostic Observation Schedule—Generic: A Standard Measure of Social and Communication Deficits Associated with the Spectrum of Autism

Algorithm sensitivities and specificities for autism and PD DNOS relative to nonspectrum disorders were excellent, with moderate differentiation of autism from PDDNOS.