Department of Psychiatry

Penn Behavioral Health

Clinical Programs and Clinical Trials

Monogenic Disorders Program

As an expansion of the existing Adult Developmental Disorders Program at Penn Behavioral Health, we are establishing a Monogenic Disorders Program with a focus on monogenic disorders associated with intellectual disability and autism spectrum disorders.  

We see this group of adults as being underserved medically and psychiatrically and we are committed to improving clinical mental health care in this population. 

Our aim is to deliver state of the art psychiatric care for common mental health problems associated with these disorders such as anxiety, depression, attention deficit hyperactivity disorder, impaired sleep, behavioral outbursts and obsessive compulsive or perseverative behaviors.

In our experience, these problems remain a critical unmet service need in this population. Our expertise guides our clinical care and we are engaged in clinical research focused on the most pressing clinical needs of our patients.

Therefore, we are establishing specialty clinics for the treatment of:

  • Fragile X syndrome
  • Neurofibromatosis type 1
  • Tuberous sclerosis type 1 and type 2
  • Rett syndrome
  • Phelan McDermid syndrome
  • CHARGE syndrome
  • Prader-Willi syndrome
  • Rubinstein-Taybi syndrome.

We are able see patients either as primary psychiatrists or on a consultation basis in which we would work with primary treating physicians regarding our recommendations for ongoing care. This option may be more feasible for patients who must travel long distances to our clinic.

For more information regarding the Monogenic Disorders Program and Adult Development Program please contact Dr. Sean McBride (215-746-7239).


At the Perelman School of Medicine of the University of Pennsylvania we work closely with basic and translational scientists on animal models of Fragile X syndrome, neurofibromatosis type 1, tuberous sclerosis type 1, tuberous sclerosis type 2, Rett syndrome, Phelan McDermid syndrome, CHARGE syndrome and Rubinstein-Taybi syndrome.

Earlier work by Dr. Sean McBride and the lab of Dr. Thomas Jongens first demonstrated that cognitive impairments in animal models of intellectual disability could be rescued by pharmacologic treatment in adults, a potentially paradigm shifting discovery in the fields of intellectual disability and autism spectrum disorders (McBride et al., 2005, Neuron).

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