For Physicians

The Neurodevelopmental Disorders Research Program

We are actively recruiting patients into studies of Neurodevelopmental Disorders, including Autism Spectrum Disorders (ASD) and Epilepsy (EPI). We are always interested in expanding our network of physicians that are willing to contribute to our recruitment efforts. Physicians interested in collaborating can contact Dr. Pinto at ndd.project@mssm.edu or dalila.pinto@mssm.edu.

How to Refer participants to our genetic studies
Participating Mount Sinai physicians can refer new patients for genetic testing through our REDCap Referral Form by clicking the button below.

Alternatively if you do not have access to REDCap, then please complete the Physician Referral form (fillable pdf) and email us directly at ndd.project@mssm.edu, or send it to our office (PO box #1230, One Gustave L Levy Place, New York, NY 10029).

Overview of currently ongoing studies

Genetic study of Autism and Epilepsy

Autism spectrum disorder (ASD) is often accompanied by epilepsy. ASD and epilepsy can co-occur in the same family or the same person suggesting that they may be caused by similar or related genetic changes. Mapping these changes will inform about the biological basis of these disorders. This study is recruiting subjects and families with ASD and epilepsy (ASD-epilepsy) of unknown cause for a systematic genetic screen that will examine the inheritance patterns and genetic contributions. Participation involves the completion of a medical history questionnaire and a blood draw for children with ASD-epilepsy and their parents. Siblings may also be eligible to participate. [GCO# 15-1766, IRB approved through 11/20/19]. For participation, email us at ndd.project@mssm.edu. Check out our flyer for this study.

Co-morbidity of Autism with Epilepsy and/or Intellectual Disabilities

Neurodevelopmental disorders (NDDs) are a group of disorders that impair the normal development of a child’s brain – such as ASD, intellectual disability (ID), developmental delays, and epilepsy, and can have a genetic basis. NDDs can co-occur in the same family or the same person, suggesting that they may be caused by similar or related genetic changes. Mapping both shared and distinct changes will inform about the biological basis of each disorder. We are recruiting subjects and families with NDDs of unknown cause for a systematic genetic screen that will examine the inheritance patterns and genetic contributions to related neurodevelopmental disorders. Affected and unaffected family members of those with a NDD may also be eligible to participate. [GCO# 12-1490, IRB approved through 11/20/19]. Check out our flyer for this study

Genetic study of early infantile epileptic encephalopathies

Early infantile epileptic encephalopathies (EIEEs) are a group of rare disorders in which cognitive, sensory, and motor development is impaired by recurrent clinical seizures or prominent interictal epileptiform discharges during the neonatal or early infantile periods. Though they are characterized as different clinical diagnoses, they have related developmental brain dysfunction. We are recruiting subjects and families with EIEEs for a systematic genetic screen that will examine inheritance patterns and genetic contributions using high-throughput targeted approaches to screen for changes in coding and non-coding genes. Affected and unaffected family members of those with EIEEs may also be eligible to participate. [GCO# 12-1490, IRB approved through 11/20/19]. Check out our flyer for this study.

Rett syndrome and Rett-like phenotypes project

Rett syndrome is a rare genetic disorder of the central nervous system that causes developmental delay. Children initially have a normal development, but between 6-24 months of age their development stagnates or regresses. Autistic-like behaviours are often present in the early stages, and seizures are present in a large proportion of subjects with Rett-like phenotypes. Mutations in three genes, MECP2, CDKL5 and FOXG1 can cause the disorder, but a large proportion of children with Rett-like phenotypes do not carry mutations in these genes. We are recruiting subjects with Rett-like syndrome features for a systematic genetic screening using high-throughput sequencing approaches and evolutionary concepts to identify novel genes and factors involved in these diseases. Children with Rett syndrome or Rett-like phenotypes without mutations in MECP2 and CDKL5, as well as their parents, are eligible to participate. [GCO# 12-1490, IRB approved through 11/20/19]. Check out our flyer for this study.