Treatment should be directed to the symptoms of the patient. The following is recommended:
• close developmental surveillance by a paediatrician with appropriate referral for daily intervention and on-going support at and after school
• educational programs directed to specific disabilities identified
• hearing aids and speech therapy and other interventions to augment communication
• routine treatment of behavioral problems.
Genetic counseling
Pathogenic variants in SPOP are inherited in an autosomal dominant manner, but to date all cases result from a de novo mutation. Thus, the affected individuals represent sporadic cases, i.e. a single occurrence in a family.
The recurrence risk for future pregnancies is considered low (probably <1%). Prenatal testing is technically feasible, although the likelihood of recurrence in families who have had an affected child is considered low based upon the current knowledge.
No individuals with NSDVS1 have been known to reproduce.
SPOP GoF