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Whole exome sequencing facilitates early neurodevelopmental diagnosis in an outpatient clinic
Casaundra Gutowski1, Molly Lombard1, Evangeline Kurtz-Nelson2
1Riley Hospital for Children at Indiana University Health, Indianapolis, Indiana, USA.
Insights
Whole exome sequencing (WES) aided early diagnosis of Rett syndrome in a child with atypical symptoms. This genetic testing facilitated access to crucial resources and support.
Area of Science:
- Medical Genetics
- Neurodevelopmental Disorders
- Paediatric Medicine
Background:
- Whole exome sequencing (WES) is a recommended first-tier genetic test for paediatric patients with congenital anomalies, developmental delay, or intellectual disability.
- Increasing use of WES has led to higher rates of genetic testing and diagnosis in this population.
- Rett syndrome is a genetic neurodevelopmental disorder typically characterized by regression, but atypical presentations can occur.
Purpose of the Study:
- To present a case of early childhood Rett syndrome diagnosed via WES.
- To highlight the utility of WES in diagnosing atypical neurodevelopmental conditions.
- To emphasize the role of multidisciplinary programs in genetic diagnosis and patient care.
Main Methods:
- Whole exome sequencing (WES) was performed as part of a comprehensive genetic work-up.
- A multidisciplinary neurodevelopmental genetics program facilitated the diagnostic process.
- Non-genetics providers were trained in genetic testing consent to ensure patient access.
Main Results:
- Rett syndrome was diagnosed in early childhood through WES.
- The patient presented atypically with no regression, underscoring the diagnostic challenge.
- The diagnosis enabled access to specialized resources, interventions, and family support.
Conclusions:
- WES is a valuable tool for diagnosing Rett syndrome, even in atypical cases.
- Multidisciplinary care and trained non-genetics providers enhance genetic testing accessibility and diagnostic yield.
- Early diagnosis of Rett syndrome is critical for timely intervention and support.
Abstract:
The American College of Medical Genetics and Genomics (ACMG) and other professional organisations recommend whole exome sequencing (WES) as a first-tier genetic test for paediatric patients with congenital anomalies, developmental delay and/or intellectual disability, which has contributed to rapidly increasing rates of genetic testing and diagnosis in this population. We present a case of Rett syndrome diagnosed in early childhood following an atypical presentation of the condition with no regression using WES. This diagnosis was facilitated by a multidisciplinary outpatient neurodevelopmental genetics programme. Non-genetics providers trained in consent for genetic testing allowed for ample access to a comprehensive genetics work-up. The subsequent diagnosis of Rett syndrome qualified this patient for additional resources, novel interventions and family support.
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