How genetic testing can help put
the pieces together: One family’s story
When the elder of two children exhibited behaviors associated with developmental delay, his parents were concerned that his younger brother might have inherited a similar condition. The family’s pediatrician referred them to a genetic specialist, who ordered chromosomal microarray analysis, or CMA, testing.
Results showed that mother and sons all had deletions in a chromosome related to autism spectrum disorder. The family learned that individuals with this disorder may or may not display various symptoms from language and learning problems to a tendency toward seizures.
Counseling on autism proved invaluable: the older child began receiving therapies that have improved his capabilities, and when the younger child stopped breathing one day, his mother recognized his seizure and performed rescue breathing until medical personnel arrived. Having educated herself on seizures, she was able to react quickly and rationally during the emergency.
Other family members have since been tested for autism spectrum disorder; they have gained insight into their medical conditions and have been able to take steps to prevent further problems.