Treatment should be directed to the symptoms of the patient. The following is recommended:
• close developmental surveillance by a pediatrician with appropriate referral for daily intervention and on-going support at and after school
• educational programs directed to specific disabilities identified
• cardiac, endocrine, epilepsy, visus evaluation and appropriate treatment
• routine treatment of behavioral and sleeping problems.
Genetic counseling
Pathogenic variants in SPOP are inherited in an autosomal dominant manner, but to date all cases result from a de novo variant. 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 NSDVS2 have been known to reproduce.
SPOP LoF