What is the prevalence of developmental delay and intellectual disability in Sturge-Weber syndrome (SWS)?

Updated: Dec 26, 2018
  • Author: Masanori Takeoka, MD; Chief Editor: George I Jallo, MD  more...
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Answer

Related to the degree of neurologic involvement, developmental delay and intellectual disability occur in 50-60% of patients with SWS; they are more likely to exist in patients with bilateral involvement. [9] Bebin and Gomez reported normal mental functioning in only 8% of patients with bilateral SWS. [37]

In a detailed study of 10 patients with SWS, Maria et al found developmental delay and learning problems in all 10 and attention deficit hyperactivity disorder in 3. [46] Using a combination of computed tomography (CT) scanning, MRI, and functional imaging with single-photon emission CT (SPECT) scanning, abnormalities were found bilaterally the majority of patients, including extensive abnormalities in glucose metabolism and cerebral perfusion. These results may account for the high incidence of developmental delay, intellectual disability, and learning problems seen in SWS.

Seizures are also associated with a higher incidence of mental retardation, and regression may be related to the frequency and severity of seizures as well.

Alkonyi et al reported on 14 patients with bilateral SWS who had an asymmetrical pattern on positron-emission tomography (PET) scanning and found that bilateral frontal and temporal hypometabolism was associated with poor developmental outcome. Good seizure control and only mild to moderate developmental impairment was seen in about 50% of the patients with bilateral SWS. [47]


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