scholarly journals Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q

2014 ◽  
Vol 17 (2) ◽  
pp. 143-148 ◽  
Author(s):  
Natacha Akshoomoff ◽  
Sarah N. Mattson ◽  
Paul D. Grossfeld
Keyword(s):  
Autism Spectrum Disorder ◽  
Candidate Gene ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Jacobsen Syndrome

scholarly journals Candidate gene study of HOXB1 in autism spectrum disorder

2010 ◽  
Vol 1 (1) ◽  
pp. 9 ◽  
Author(s):  
Lucia A Muscarella ◽  
Vito Guarnieri ◽  
Roberto Sacco ◽  
Paolo Curatolo ◽  
Barbara Manzi ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Candidate Gene ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Candidate Gene Study ◽  
Gene Study

scholarly journals Haploinsufficiency of autism spectrum disorder candidate gene NUAK1 impairs cortical development and behavior in mice

2018 ◽  
Vol 9 (1) ◽  
Author(s):  
Virginie Courchet ◽  
Amanda J. Roberts ◽  
Géraldine Meyer-Dilhet ◽  
Peggy Del Carmine ◽  
Tommy L. Lewis ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Candidate Gene ◽  
Cortical Development ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
And Behavior

Novel alterations of CC2D1A as a candidate gene in a Turkish sample of patients with autism spectrum disorder

2020 ◽  
pp. 1-8
Author(s):  
Elif Funda Sener ◽  
Muge Gulcihan Onal ◽  
Fatma Dal ◽  
Ufuk Nalbantoglu ◽  
Yusuf Ozkul ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Candidate Gene ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking

2016 ◽  
Vol 7 (1) ◽  
Author(s):  
Tsutomu Nakamura ◽  
Fumiko Arima-Yoshida ◽  
Fumika Sakaue ◽  
Yukiko Nasu-Nishimura ◽  
Yasuko Takeda ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Gabaa Receptor ◽  
Autism Spectrum ◽  
Receptor Trafficking ◽  
Spectrum Disorder ◽  
Jacobsen Syndrome ◽  
Deficient Mice

scholarly journals An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males

2011 ◽  
Vol 2 (1) ◽  
pp. 18 ◽  
Author(s):  
Ren-Hua Chung ◽  
Deqiong Ma ◽  
Kai Wang ◽  
Dale J Hedges ◽  
James M Jaworski ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Association Study ◽  
Candidate Gene ◽  
X Chromosome ◽  
Autism Spectrum ◽  
Spectrum Disorder

Pharmacogenomic Studies in Intellectual Disabilities and Autism Spectrum Disorder: A Systematic Review: Études Pharmacogénomiques en Déficiences Intellectuelles et Trouble du Spectre de L’autisme: Une Revue Systématique

2020 ◽  
pp. 070674372097195
Author(s):  
Kazunari Yoshida ◽  
Emiko Koyama ◽  
Clement C. Zai ◽  
Joseph H. Beitchman ◽  
James L. Kennedy ◽  
...  
Keyword(s):  
Systematic Review ◽  
Autism Spectrum Disorder ◽  
Adverse Effects ◽  
Candidate Gene ◽  
Treatment Outcomes ◽  
Treatment Response ◽  
Age Groups ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
The Impact

Background: Individuals with intellectual disability (ID) and autism spectrum disorder (ASD) often receive psychotropic medications such as antipsychotics and antidepressants to treat aberrant behaviors and mood symptoms, frequently resulting in polypharmacy and drug-related adverse effects. Pharmacogenomic (PGx) studies with ASD and/or ID (ASD/ID) have been scarce despite the promise of optimizing treatment outcomes. We reviewed the literature on PGx studies with antipsychotics and antidepressants (e.g., treatment response and adverse effects) in ASD/ID. Methods: We performed a systematic review using MEDLINE, Embase, and PsycINFO, including peer-reviewed original articles in English referring to PGx in the treatment of ASD/ID in any age groups (e.g., treatment response and adverse effects). Results: A total of 28 PGx studies using mostly candidate gene approaches were identified across age groups. Notably, only 3 studies included adults with ASD/ID while the other 25 studies focused specifically on children/adolescents with ASD/ID. Twelve studies primarily investigated treatment response, of which 5 and 6 studies included patients treated with antipsychotics and antidepressants, respectively. Most interesting results for response were reported for 2 sets of candidate gene studies, namely: (1) The DRD3 Ser9Gly (rs6280) polymorphism was examined in patients treated with risperidone in 3 studies, 2 of which reported an association with risperidone treatment response and (2) the SLC6A4 5-HTTLPR polymorphism and treatment response to antidepressants which was investigated in 4 studies, 3 of which reported significant associations. In regard to side effects, 9 of 15 studies focused on hyperprolactinemia in patients treated with risperidone. Among them, 7 and 5 studies examined the impact of CYP2D6 and DRD2 Taq1A polymorphisms, respectively, yielding mostly negative study findings. Conclusions: There is limited data available on PGx in individuals with ASD/ID and in particular in adults. Given the potential for PGx testing in improving treatment outcomes, additional PGx studies for psychotropic treatment in ASD/ID across age groups are warranted.

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