Global Developmental Delay
Global developmental delay disorders affect about 3% of the general population. They are characterized by a significant intellectual disability which is defined as an IQ <70. Other symptoms include a significant delay in gross and fine motor, speech and language, cognition, personal and social development or activities of daily living. Genetic factors are responsible for up to 40% of the cases of intellectual disability. While males are more frequently affected due to X-linked genes and chromosomal abnormalities are responsible for 25% of cases. Additionally, de novo mutations appear to contribute to a significant number of cases of severe intelligence impairment. Early identification of infants and young children can help to prevent the condition from persisting or worsening over time. We offer comprehensive and syndrome-specific panels testing for global developmental delay disorders. The test can offer a molecular genetic diagnosis of a global developmental delay disorder that is observed or predicted in your child.
IMPORTANCE OF GETTING TESTED
If your child shows symptoms of a global developmental delay disorder, identifying the cause can help to take therapeutic intervention and improve the outcome of the disorder. Additionally, testing can help to take informed family planning decisions. Our genetic counsellors can provide medical advice.
You have a child who has not met
their developmental milestones
You have a child
with autism (spectrum) disorder
You have a child
with dysmorphic features
You have a child that shows symptoms of
a global developmental delay disorder
and need a differential diagnosis
POSSIBLE OUTCOMES OF THE TEST
A molecular genetic diagnostic report outlining the results of the sequencing analysis is provided. Changes in DNA sequences (variants) can be detrimental and lead to the development of a cardiac or aortic disorder, including asymptomatic disorders that develop later in life. We will report pathogenic and likely pathogenic variants as well as variants of unknown significance.
Pathogenic and likely pathogenic variants mean the genetic cause of the observed symptoms has been identified and may help determine the right treatment and management plan.
Variants of unknown significance means there was not enough evidence to classify the variant as either pathogenic or neutral. Annual variant reclassification and testing family members is recommended.
It is important to note that a negative result does not guarantee the absence of a disorder or that the disorder does not have a genetic cause. Genetic testing is an evolving field and may not detect all variants or there may not currently be enough evidence to classify all variants that lead to an inherited disease.