Diagnosis & Treatment
Diagnosis
Often, diagnosing TRND begins with finding clinical signs/symptoms of neurodevelopmental disorder(s). Neurodevelopmental disorders are conditions that affect how the neurological system and brain function. Children with neurodevelopmental disorders may have delayed development and/or difficulty with speech, motor skills, behavior, learning, or other neurological functions. Neurodevelopmental disorders include but are not limited to autism, attention-deficit/hyperactivity disorder (ADHD), intellectual disability, and vision/hearing impairments.
TRND is ultimately diagnosed by genetic testing, when patients with neurodevelopmental disorder are found to carry a likely pathogenic mutation in the TCF7L2 gene.
Treatment
There is currently no cure for TCF7L2-related neurodevelopmental disorder. However, there are therapeutic strategies that some patients find helpful in controlling the signs and symptoms of various neurodevelopmental disorders. Please speak with your doctor to find which therapies and interventions might be effective for your child.