This “rare” autism-linked genetic disorder may be far more common than scientists thought
A major analysis suggests Phelan-McDermid syndrome, a genetic disorder closely linked to autism, may affect about 1 in 7,300 people and more than 45,000 Americans. Researchers warn that thousands of cases may remain hidden because genetic testing is often not performed, even as targeted treatments m
Phelan-McDermid Syndrome Prevalence Analysis
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Prevalence Statistics: Phelan-McDermid syndrome may affect 1 in 7,300 people, totaling over 45,000 Americans.
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Diagnostic Gaps: Researchers identify significant under-diagnosis due to the absence of consistent genetic testing.
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Clinical Context: The genetic disorder is closely linked to autism spectrum conditions.
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Treatment Status: Targeted treatments are emerging, emphasizing the importance of accurate diagnostic identification.
Healthcare and Diagnostic Implications
Increased clinical focus on genetic testing is required to uncover hidden cases of the syndrome.
Individuals previously undiagnosed may benefit from targeted treatments if properly identified.
Phelan-McDermid Syndrome Overview
How common is Phelan-McDermid syndrome estimated to be? ▾
Current analysis suggests a prevalence of approximately 1 in 7,300 individuals.
Why are cases of the syndrome currently hidden? ▾
Genetic testing is frequently not performed, resulting in significant under-diagnosis.
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