Connecticut Children’s Neurogenetics Clinic diagnoses and treats infants and children with a broad range of genetic disorders that affect brain development and function.
Our neurogenetics clinic utilizes sophisticated genetic testing and detailed brain imaging to diagnose a broad spectrum of neurogenetic disorders in children with a range of symptom, including developmental delay, brain malformations, metabolic abnormalities, seizures and motor impairment.
Our multidisciplinary medical professionals are experts in diagnosing and caring for children with rare genetic conditions and related brain disorders in collaboration with the genetics program.
We also offer a unique Autism Neurogenetics research program. In this highly specialized setting, children diagnosed with autism spectrum disorder are evaluated with the goal of identifying existing genetic conditions that may cause autism. Additional goals of the evaluation include the diagnosis and management of neurological issues such as epilepsy or brain malformations, which may occur in children with autism.
The clinic is directed by Louisa Kalsner, MD, who is trained in both child neurology and genetics.
Neurogenetics Clinic for Neurocutaneous Disorders
Connecticut Children’s Neurogenetics Clinic diagnoses and treats infants and children with neurocutaneous disorders, including Neurofibromatosis Types 1 and 2, Tuberous Sclerosis, Sturge Weber Syndrome and Ataxia-Telangiectasia.
Our multidisciplinary team of neurologists and geneticists care for children born with genetic disorders that affect brain development and function.
The clinic uses specialized genetic testing and detailed brain imaging to diagnose a broad spectrum of neurogenetic disorders. Our available multidisciplinary medical professionals are experts in caring for rare genetic conditions and related brain disorders.
Referrals are made by primary caretakers, subspecialty caretakers, patient care foundations, and self-referrals, among others.
The clinic is directed by Francis DiMario, MD.