If someone has a condition related to a change (called a "variant") in the PPFIA3 gene, here are some important steps to help manage their health. Since each person’s symptoms can be different, doctors will suggest treatments and support that fit their specific needs.
Recommendations after Diagnosis
Genetic Counseling and familial testing: Meeting with a genetic counselor can help families understand the condition and how it might affect other family members. They can explain genetic testing and answer questions. Family members may also want to consider genetic testing to see if they carry the same gene change. This can help with future family planning and interpreting the prognosis related to someone specific genetic change.
Brain MRI: A brain MRI (a type of imaging scan) can help doctors check for any structural changes in the brain that could be related to the condition.
EEG: a doctor might recommend an EEG to evaluate if a person with this condition has seizures. This test checks the brain’s electrical activity and can help guide treatment.
Autism Evaluation: If there are signs of autism (trouble with social interactions or repetitive behaviors), an evaluation by a developmental pediatrician or neuropsychologist is helpful to understand their needs and get support early.
Early Childhood Intervention (ECI): ECI programs can help children with developmental delays. Therapists will work on skills like speaking, moving, and learning.
Physical Therapy: Because of low muscle tone (hypotonia), physical therapy can strengthen muscles, improve movement, and help with daily activities.
Dental Exam: A dental evaluation is important because some children with this condition may have teeth that develop differently. Dentists can help monitor their teeth and provide care.
Swallow studies: some children with this condition experience excessive drooling and/or find it difficult to eat solid foods. If a child has trouble swallowing, a doctor may suggest swallow studies to check how well they swallow food and liquids. This helps avoid choking or breathing problems during meals.
By following these recommendations, families can ensure that the person with PPFIA3-related neurodevelopmental disorder gets the right care to help them grow and live well. Each treatment plan will be personalized based on their symptoms.
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