Laboratory Evaluation of Children with Autistic Spectrum Disorders:A Guide for Primary Care Pediatricians

Voigt, Robert G.; Dickerson, Carmen L.; Reynolds, Ann; Childers, David O.; Rodriguez, Diana L.; Brown, Frank R.

doi:10.1177/000992280003901108

Cited by 16 publications

(14 citation statements)

References 7 publications

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“…In studies that include younger preadolescent children with autism, the reported rate of epilepsy is, in general, less than 10% [30–32]. In studies that include a high number of adolescences and adults with autism rates of seizures are as high as 39% [20,33].…”

Section: Autism–epilepsy Phenotypementioning

confidence: 99%

Convulsing toward the pathophysiology of autism

Tuchman¹,

Moshé²,

Rapin³

2009

Brain and Development

130

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The autisms and epilepsies are heterogeneous disorders that have diverse etiologies and pathologies. The severity of impairment and of symptoms associated with autism or with particular epilepsy syndromes reflects focal or global, structurally abnormal or dysfunctional neuronal networks. The complex relationship between autism and epilepsy, as reflected in the autism-epilepsy phenotype, provides a bridge to further knowledge of shared neuronal networks that can account for both the autisms and the epilepsies. Although epilepsy is not a causal factor for autism, increased understanding of common genetic and molecular biological mechanisms of the autism-epilepsy phenotype has provided insight into the pathophysiology of the autisms. The autism-epilepsy phenotype provides a novel model to the study of interventions that may have a positive modulating effects on social cognitive outcome.

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Section: Autism–epilepsy Phenotypementioning

confidence: 99%

Convulsing toward the pathophysiology of autism

Tuchman¹,

Moshé²,

Rapin³

2009

Brain and Development

130

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“…Previous studies have identified similar gender discrepancies in patients with autism and PDD. 1,3,4 The patients ranged in age from 36 months to 38 years with a mean age of 8.8 years. Additional demographic information is provided in Table 1.…”

Section: Resultsmentioning

confidence: 99%

“…4 The criteria for inclusion was based on meeting DSM-IIIR or DSM-IV criteria for a diagnosis of autism or PDD not otherwise specified. Other PDDs were excluded.…”

Section: Discussionmentioning

confidence: 99%

“…Other large series performed to date have consistently shown detection rates of 1% to 2%. 3,4 One patient had an unbalanced 10;22 translocation that was not detected on routine karyotype analysis. Because patients with minimal dysmorphic features are unlikely to have large chromosomal deletions or duplications, this patient emphasizes the need to obtain high-resolution studies in patients presenting primarily for PDD or autistic features.…”

Section: Discussionmentioning

confidence: 99%

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The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders

Abdul‐Rahman

Hudgins

2006

Genetics in Medicine

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Purpose: A genetics evaluation of children with pervasive developmental disorders (PDDs) identifies a diagnosis in 6% to 15% of cases. However, previous studies have not measured the incidence of genetic disorders among children with autistic-like features who do not necessarily meet the Diagnostic and Statistical Manual for Mental Disorders, Fourth Edition criteria for PDD. Methods: We identified 101 patients at our institution referred for PDD, autism, Asperger syndrome, or autistic features. Seventy-eight were males and 23 were females, giving a male-to-female ratio of 3.4:1. No diagnosis was identified on examination alone, although Rett syndrome was suspected in six females. Seventeen patients did not undergo any type of testing because of noncompliance.Results: Of the remaining 84 patients analyzed, seven (8.3%) were found to have abnormalities on testing. Three chromosomal anomalies were found: one with 5p duplication, one with low-level mosaicism for trisomy 21, and one with an unbalanced 10;22 translocation. Three females were diagnosed with Rett syndrome after MECP2 analysis identified a disease-causing mutation. The remaining patient was found to have an elevated urine orotic acid, with a normal ammonia level, of unknown significance. Conclusion: On the basis of our series, the yield of a genetics evaluation in patients with features of PDD who do not necessarily meet the Diagnostic and Statistical Manual for Mental Disorders, Fourth Edition criteria is 8.3%. Approximately half of these were the result of a chromosomal abnormality. Three cases of Rett syndrome were identified for which autistic behaviors are a well-described feature.These findings suggest that a high-resolution karyotype provides the greatest diagnostic yield for patients with autistic-like features. MECP2 analysis should be considered for females who present with autistic behaviors. Genet The pervasive developmental disorders (PDDs) constitute a group of disorders characterized by impairments in the developmental domains of social interaction and communication in the presence of repetitive or stereotypical behaviors. PDD can be further categorized into autistic disorder, childhood disintegrative disorder, Asperger syndrome, Rett syndrome, or PDD not otherwise specified. The classification of these disorders depends on the degree of impairment and involvement of all or some of the domains mentioned previously. The Diagnostic and Statistical Manual for Mental Disorders, Fourth Edition (DSM-IV) criteria outlines the definitions of each disorder and lists diagnostic criteria required for the diagnosis of PDD. Planning for the DSM-V is already under way with the intention of using clinical neuroscience research to guide the development of a pathophysiologically based classification.Autistic disorder (or autism) is the most studied entity, and evidence for genetic causes continues to be gathered. For example, it is well known that the recurrence risk for siblings of affected individuals is significantly higher than for the general populati...

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“…With a few exceptions, brain imaging is not recommended in the diagnostic workups of individuals with ASD. [21][22][23] The exceptions include children with ASD who have comorbid conditions such as epilepsy or tuberous sclerosis, which place them at a higher risk for structural brain lesions.…”

mentioning

confidence: 99%

Neuroimaging in Autistic Spectrum Disorder (ASD)

Sokol

Edwards-Brown

2004

j neuroimaging

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Autistic spectrum disorder (ASD) is a lifelong developmental disorder characterized by impairment in socialization and communication. Neuroimaging research has shown abnormalities in the frontal lobes, limbic systems, and cerebella of individuals with ASD. Recently, abnormal developmental trajectories of brain growth have been reported, with increases in brain volume (in both gray and white matter) seen in younger rather than older individuals with this disorder. Despite 30 years of research, a reliable marker for ASD has not been identified. Therefore, routine neuroimaging for individuals with ASD is not recommended.

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Laboratory Evaluation of Children with Autistic Spectrum Disorders:A Guide for Primary Care Pediatricians

Cited by 16 publications

References 7 publications

Convulsing toward the pathophysiology of autism

Convulsing toward the pathophysiology of autism

The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders

Neuroimaging in Autistic Spectrum Disorder (ASD)

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