Management

TARP syndrome is a complex, multisystem condition with an evolving phenotype as we learn more about the spectrum of clinical findings. Patients diagnosed via sequencing typically have major clinical findings at birth and/or a supportive family history. Individualized management of neonatal complications may include supplemental oxygen and feeding tube placement. For those with cleft palate and/ or severe micrognathia, evaluation for palate repair or mandibular distraction may be indicated. It is important to evaluate infants for cardiac pathology via ECHO and EKG, with periodic re-evaluation as conditions such as HOCM or arrhythmias may present later in childhood or adulthood. Renal sonogram is also recommended at least once in infancy. Brain MRI may be useful to assess for CNS malformations. Patients should be referred to audiology and ophthalmology for careful hearing and vision assessments. Individuals with continuing growth concerns may benefit from increased caloric intake via G-tube. While uncommon, a few individuals have required cardioversion following small bowel obstruction, so families should be warned about the possibility of volvulus and there should be a low threshold to assess for intestinal malrotation with a contrast upper gastrointestinal study. As soon as a diagnosis is made and the child’s health permits, referrals to physical, occupational, and (when age appropriate) speech therapy should be made. Finally, due to a high recurrence risk for TARP syndrome, all families should receive genetic counselling upon diagnosis and consideration may be given to testing female relatives at risk for being asymptomatic carriers of pathogenic RBM10 variants.