Developmental Disorders

One of the principle aims of our clinic is to clarify diagnosis for patients with developmental disorders, of all ages.

Over recent years the underlying genetic basis of a large number of developmental disorders has been identified.

What is a Developmental Disorder?

Malformations (abnormalities) of;

  1. internal organs, such as the heart

  2. intellectual disability, or 

  3. other related symptoms 

are disorders that are broadly classified as “developmental disorders.” 

Developmental Disorder & the Genetic Link

Such conditions as outlined above can result from abnormality of chromosomes, can reflect mutation within a single gene or can be the consequence of environmental exposure to damage during foetal life. Over 1000 genetic developmental disorders are now known and the list grows all the time. 

Why is a Developmental Disorder Diagnosis Important?

When a diagnosis is clarified it allows for informed management and treatment plans for patients. 

What We Do

Where it is appropriate our team provides;

  • genetic testing for families and patients with a genetic developmental disorder and 

  • diagnosis

  • advice/counselling on the test result.

Our Expertise 

As already mentioned the underlying genetic basis of a large number of developmental disorders has been identified in recent years and we have contributed actively to this process, as Dr Reardon’s publication record attests.

Dr Reardon regularly attends international conferences, lectures widely on developmental disorders and publishes extensively on genetic and environmental contributions to developmental disorders. Most recently, a paper on Fetal Valproate Spectrum Disorder testifies to the current approaches to identifying and excluding competing causes in patients exposed to Sodium Valproate during Fetal life. 

http://imj.ie/establishing-or-excluding-a-diagnosis-of-fetal-valproate-spectrum-disorder-is-a-multi-layered-process/