Genetic Testing in Neurodevelopmental Disorders

The following blog highlights the article, “Genetic Testing for Those with Neurodevelopmental Disorders”.  The reason I say ‘highlights’ is because the article contains a great deal of information that I won’t be addressing in this blog.  I would ask that you please read the article as it is extremely informative. 

The Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5), refers to Neurodevelopmental disorders (NDD) as group of conditions that present during a child’s early developmental period and are characterized by developmental deficits that may create challenges in the child’s personal, social, academic, or occupational functioning.  With a combined prevalence of approximately 17% of children ages 3-17 years old in the United States, NDD are the most prevalent chronic medical conditions encountered in pediatric primary care. 

NDD include intellectual disabilities (ID), global developmental delays (GDD), communication disorders (language disorder, speech sound disorder, childhood onset fluency disorders, and social/pragmatic communication disorder), autism spectrum disorders (ASD), attention deficit/hyperactivity disorder (ADHD), specific learning disorders (involving reading, written expression, and/or mathematics), and motor disorders (developmental coordination disorder, stereotypic movement disorder, and tic disorders).

Other conditions, outside of the DSM-5, are also considered as neurodevelopmemtal disorders.  These conditions include cerebral palsy (CP) and epilepsy, and neuropsychiatric disorders where there is strong clinical and biological evidence of developmental origins, such as schizophrenia.

As I mentioned, NDD are the most prevalent conditions encountered in the pediatric setting.  In fact, these disorders are considered to be common, and a significant proportion can be identified by genetic testing. In the last two decades, rapid advances in the development of genetic testing have revolutionized our ability to make specific genetic diagnoses in patients presenting with identification of neurodevelopmental disorders. New genes are being implicated in neurodevelopment at a rapid pace.

So, what do family members want to know?  The answer is that in addition to wanting to know their child’s clinical diagnosis and prognosis, they want to know the cause of their child’s developmental disability. With the development of genetic testing in identifying genetic causes for NDD, physicians can provide information on causes to families, along with a more accurate prognosis for their patients.  This identification can also be used to find, treat and possibly prevent medical comorbidities. 

At this time, genetic testing is considered the standard of care for children and adolescents with Intellectual Disabilities, Global Developmental Delays, and/or Autism Spectrum Disorders, and the future of testing will almost certainly be broadened to include other neurodevelopmental disorders. (Standard of care refers to the attention and care a patient should reasonably be provided.)

It is important that physicians and other medical personnel who provide healthcare to children and adolescents with neurodevelopmental disorders, gain an understanding of these common tests and their role in providing the best medical care for patients.  It is also important for these clinicians to support and facilitate genetic etiologic evaluations (genetic testing showing cause) for these patients by ordering genetic testing or partnering with genetic providers. Article cited:

To follow up, we think the main point from this article is that conditions which were once believed not to be genetic and/or caused by biological factors are now considered to be diseases with well defined genetic factors. We need to promote science so we can someday understand the genetic and epigenetic causes of serious mental health conditions well beyond schizophrenia and better understand how NDD could be related to mental health conditions. Please support our petition for a Moonshot for Mental Health so that we may have the much needed funding to continue this type of life changing research!


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