Management Guidelines
Several publications have recommended various medical surveillance guidelines for individuals with Coffin-Siris syndrome (CSS) . However, as clinical variability between individuals is high, clinicians are encouraged to use their own clinical judgment when evaluating and managing these individuals.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with CSS, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended.
Table 5:
Coffin-Siris Syndrome: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Constitutional
| Measurement of growth parameters | To assess for growth restriction or poor growth in younger persons obesity in adults
Neurologic
| Neurologic eval to incl assessment for signs symptoms of seizures/tics | • To incl brain MRI if clinically indicated
Consider EEG if seizures are a concern.
Development
| Developmental assessment | • To incl motor, adaptive, cognitive, speech-language eval
Eval for early intervention/ special education
Neurobehavioral/
Psychiatric
| Neuropsychiatric eval | For persons age 12 mos: screening for concerns incl ADHD, aggression, /or findings suggestive of ASD
Respiratory
| Assessment for signs symptoms of sleep disturbance | Consider referral to sleep medicine clinic /or sleep study.
Musculoskeletal
| Orthopedics/ physical medicine rehab/ PT OT eval | To incl assessment of:
Source: GeneReviews — "Coffin-Siris Syndrome"
