Syndromes and epistemology II: Is autism a polygenic disorder?

Fisch, Gene S.

doi:10.1002/ajmg.a.32438

Cited by 6 publications

(2 citation statements)

References 113 publications

(113 reference statements)

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“…ADHD). A related strategy is becoming more widely embraced in molecular biology (e.g., endophenotypes, subphenotypes) (e.g., Fisch 2008;Kendler 2006;Liu et al 2008;Shao et al 2003). Moreover, this study does not resolve the conundrum of whether it is better to characterize behavioral syndromes (e.g., ODD, CD) in children with ASD with symptom characterizations that reflect their social cognition deficits or to use symptom characterizations that apply equally to a wide range of comorbid neurobehavioral syndromes.…”

Section: Limitations and Future Directionsmentioning

confidence: 95%

Oppositional Defiant and Conduct Disorder Behaviors in Boys With Autism Spectrum Disorder With and Without Attention-Deficit Hyperactivity Disorder Versus Several Comparison Samples

Guttmann-Steinmetz

Gadow

DeVincent

2009

J Autism Dev Disord

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We compared disruptive behaviors in boys with either autism spectrum disorder (ASD) plus ADHD (n = 74), chronic multiple tic disorder plus ADHD (n = 47), ADHD Only (n = 59), or ASD Only (n = 107). Children were evaluated with parent and teacher versions of the Child Symptom Inventory-4 including parent- (n = 168) and teacher-rated (n = 173) community controls. Parents rated children in the three ADHD groups comparably for each symptom of oppositional defiant disorder (ODD) and conduct disorder. Teacher ratings indicated that the ASD + ADHD group evidenced a unique pattern of ODD symptom severity, differentiating them from the other ADHD groups, and from the ASD Only group. The clinical features of ASD appear to influence co-morbid, DSM-IV-defined ODD, with implications for nosology.

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Section: Limitations and Future Directionsmentioning

confidence: 95%

Oppositional Defiant and Conduct Disorder Behaviors in Boys With Autism Spectrum Disorder With and Without Attention-Deficit Hyperactivity Disorder Versus Several Comparison Samples

Guttmann-Steinmetz

Gadow

DeVincent

2009

J Autism Dev Disord

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“…However, the neural dysfunction based on evidence from speech and language assessments is weak and often contradictory. A particular sticking point for this reviewer was to have his point of view misrepresented, suggesting that autism was probably polygenic in origin [Fisch, 2008]. In fact, I proposed that autism was probably multi‐monogenic in origin.…”

mentioning

confidence: 99%

Book review: Autism Spectrum Disorders. Amara David G, Dawson Geraldine, Geschwind Daniel H (Eds.). Oxford University Press: Oxford, UK, 2011

Fisch

2013

American J of Med Genetics Pt A

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Aminoacylase 1 deficiency associated with autistic behavior

Tylki‐Szymańska

Gradowska

Sommer

et al. 2010

J of Inher Metab Disea

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Aminoacylase 1 (ACY1) deficiency is a recently described inborn error of metabolism. Most of the patients reported so far have presented with rather heterogeneous neurologic symptoms. At this moment, it is not clear whether ACY1 deficiency represents a true metabolic disease with a causal relationship between the enzyme defect and the clinical phenotype or merely a biochemical abnormality. Here we present a patient identified in the course of selective screening for inborn errors of metabolism (IEM). The patient was diagnosed with autistic syndrome and admitted to the Children's Memorial Health Institute (CMHI) for metabolic evaluation. Organic acid analysis using gas chromatography-mass spectrometry (GC-MS) revealed increased urinary excretion of several N-acetylated amino acids, including the derivatives of methionine, glutamic acid, alanine, glycine, leucine, isoleucine, and valine. In Epstein-Barr virus (EBV)-transformed lymphoblasts, ACY1 activity was deficient. The mutation analysis showed a homozygous c.1057C>T transition, predicting a p.Arg353Cys substitution. Both parents were heterozygous for the mutation and had normal results in the organic acid analysis using GC-MS. This article reports the findings of an ACY1-deficient patient presenting with autistic features.

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Syndromes and epistemology II: Is autism a polygenic disorder?

Cited by 6 publications

References 113 publications

Oppositional Defiant and Conduct Disorder Behaviors in Boys With Autism Spectrum Disorder With and Without Attention-Deficit Hyperactivity Disorder Versus Several Comparison Samples

Oppositional Defiant and Conduct Disorder Behaviors in Boys With Autism Spectrum Disorder With and Without Attention-Deficit Hyperactivity Disorder Versus Several Comparison Samples

Book review: Autism Spectrum Disorders. Amara David G, Dawson Geraldine, Geschwind Daniel H (Eds.). Oxford University Press: Oxford, UK, 2011

Aminoacylase 1 deficiency associated with autistic behavior

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