Genetic Screening for Autism Spectrum Disorders
Author Information
Author(s): Cai Guiqing, Edelmann Lisa, Goldsmith Juliet E, Cohen Ninette, Nakamine Alisa, Reichert Jennifer G, Hoffman Ellen J, Zurawiecki Danielle M, Silverman Jeremy M, Hollander Eric, Soorya Latha, Anagnostou Evdokia, Betancur Catalina, Buxbaum Joseph D
Primary Institution: Mount Sinai School of Medicine
Hypothesis
To determine the degree to which chromosome abnormalities associated with cognitive impairment contribute to autism and to evaluate MLPA for genetic counselling.
Conclusion
MLPA proves to be an efficient method to screen for chromosomal abnormalities and identified duplications in specific regions as likely contributing to ASD.
Supporting Evidence
- MLPA identified duplications in the 15q11-q13 and 22q11 regions.
- Two novel microduplications were found in the study.
- The study suggests MLPA can be a cost-effective method for genetic counselling.
Takeaway
This study looked at the genes of kids with autism to find out if there are any missing or extra pieces of DNA that could explain their condition.
Methodology
279 unrelated subjects with ASDs were screened using MLPA, and results were validated with FISH, Q-PCR, and direct DNA sequencing.
Limitations
MLPA may yield false positives due to single base changes in probe binding sequences.
Participant Demographics
The sample included 222 males and 57 females, primarily Caucasian, with a mean age of 7.94 years.
Statistical Information
P-Value
0.003
Statistical Significance
p=0.003
Digital Object Identifier (DOI)
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