Autism Diagnosis via Chromosomal Microdeletion Detection
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Solution Overview
Problem
Current methods lack an effective early diagnosis and predictive tool for autism spectrum disorder (ASD), with existing genetic studies providing limited insight into the idiopathic etiology of the condition, and there is a need for a reliable method to identify genomic imbalances associated with ASD.
Innovation Solution
The method involves detecting microdeletions and microduplications on specific regions of chromosomes 16p11.2 and 15q13.2q13.3, using techniques such as oligonucleotide-based array comparative genomic hybridization (CGH), fluorescence in situ hybridization (FISH), and multiplex ligation-dependent probe amplification (MLPA), to identify genomic imbalances indicative of ASD.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If current genetic studies and general diagnostic methods are used, then broad coverage of autism cases is achieved, but diagnostic precision and early prediction capability are insufficient
Solution Approach 1:
The patent applies local quality by focusing on specific chromosomal regions (16p11.2 and 15q13.2q13.3) rather than examining the entire genome uniformly. By targeting these particular loci where microdeletions and microduplications are associated with ASD, the method achieves high diagnostic precision for early detection while maintaining applicability across diverse autism cases through the identification of recurrent copy number variations in these critical regions.
2Reliability
If early intervention programs are started as recommended, then treatment effectiveness is improved, but the lack of early diagnosis methods prevents timely identification of affected children
Solution Approach 1:
The patent enables preliminary action by providing a diagnostic method that can identify ASD-associated genomic imbalances before symptoms fully manifest or during early childhood when intervention is most effective. The array CGH and FISH techniques allow for early detection of microdeletions and microduplications in chromosomes 16 and 15, respectively, enabling parents and clinicians to initiate intervention programs promptly rather than waiting for later diagnostic confirmation.
3Loss of information
If comprehensive genetic analysis is performed, then insight into autism etiology is improved, but the complexity and cost of testing increases
Solution Approach 1:
The patent applies segmentation by dividing the genetic analysis into targeted examinations of specific chromosomal segments (16p11.2 and 15q13.2q13.3) rather than performing exhaustive whole-genome sequencing. The array CGH technology segments the genome into probe-covered regions, allowing focused detection of copy number variations at these critical loci. This segmented approach provides valuable etiological insights while reducing technical complexity and cost compared to comprehensive genomic analysis.
Applied Scientific Principles
This section explains which scientific principles are used to turn an abstract innovation direction into a practical engineering solution.
Function Achieved in This Case
This approach allows for accurate diagnosis and prediction of ASD by identifying specific genomic imbalances, providing a genetic basis for early identification and intervention.
Implementation Method 1
The array CGH and FISH analyses described herein confirm the deletions and duplications in the clinical samples
Implementation Method 2
The array CGH and FISH analyses described herein confirm the deletions and duplications in the clinical samples
Implementation Method 3
The multiplex ligation-dependent probe amplification (MLPA) assay (MRC Holland, Amsterdam, The Netherlands) was used to analyze DNA samples from 100 patients with ASD
Data Source
AI summary
The present invention provides methods of diagnosing and/or predicting autism spectrum disorder comprising determining the presence of microdeletions and microduplications on chromosomes 15 and 16.