Management Guidelines
No clinical practice guidelines for Smith-Kingsmore syndrome (SKS) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with SKS, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended.
Table 4.
Smith-Kingsmore Syndrome: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Constitutional
| Measurement of growth parameters incl head circumference | • To assess for macrocephaly generalized overgrowth
To assess for obesity in those who have hyperphagia
Neurologic
| Neurologic eval | • Brain MRI should be considered to identify any brain malformations.
Baseline EEG given high frequency of seizures
Development
| Developmental assessment | • To incl motor, adaptive, cognitive, feeding, speech-language eval
Eval for early intervention/ special education
Neurobehavioral/
Psychiatric
| Neuropsychiatric eval | • Formal autism eval in those w/findings suggestive of ASD
For persons age 12 mos: screening for ADHD, anxiety, aggression, self-injury
Musculoskeletal
| • Clinical assessment for scoliosis /or pes planus
Consider radiographs in those who have clinical scoliosis.
Orthopedics/ physical medicine rehab/ PT OT eval
| To incl assessment of:
Source: GeneReviews — "Smith-Kingsmore Syndrome"
