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"Genetic Testing, Counseling Crucial In People With Developmental Delay" - Dr. Silvia De Rubeis and Dr. Paige Siper

  • Spectrum News
  • New York, NY
  • (June 19, 2018)

Brock was admitted to the hospital when he was 3 weeks old due to failure to thrive. In addition to poor weight gain and significant feeding difficulties, his reflexes had declined. Brock’s pediatrician recommended hospitalization to expedite the testing process, as it was clear he required multidisciplinary expertise. A clinical geneticist was on rotation during Brock’s hospital stay and identified a large deletion spanning FOXP1. The gene is implicated in a neurodevelopmental condition called FOXP1 syndrome. In his search for information, Brock’s father found a webinar on FOXP1 syndrome hosted by the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai. We specialize in comprehensive clinical and genetic assessment of individuals with autism and related conditions, including FOXP1 syndrome. Genetic testing can be critical to a child’s health and development. If we do not know a child has a FOXP1 disruption, treatable medical issues may go undetected. Identifying a genetic disruption may give us a chance to begin intervention before delays emerge. Brock, for example, began physical therapy and feeding therapy before 6 months of age. Positive genetic findings can also inform research — for example, for creating cell and animal models of developmental conditions and for developing treatments, as we do at our center.

- Silvia De Rubeis, PhD, Assistant Professor, Psychiatry, Icahn School of Medicine at Mount Sinai, Psychiatrist, The Seaver Autism Center for Research and Treatment at Mount Sinai

- Paige M. Siper, PhD, Assistant Professor, Psychiatry, Chief Psychologist, The Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai

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