SWS is a rare disorder that can result in hemiparesis; the goal of this case series was to summarize physiatric findings in these patients. As would be expected, individuals for whom physiatric evaluation was requested had worse hemiparesis than individuals for whom physiatric care was not sought. Most individuals in this cohort evaluated by a physiatrist were younger than 3 yrs, which may reflect a bias of families of young children, for whom future function is uncertain, to seek physiatric care more frequently than families of older children and adults who typically have already attained speech and ambulation.
Of individuals receiving physiatric evaluation, approximately one third had need for orthoses, and fewer required other forms of spasticity management. In the authors' experience, these individuals required less bracing and spasticity management than would be anticipated for a cohort of similarly aged individuals with hemiparesis from other etiologies (e.g., middle cerebral artery stroke and traumatic brain injury). One reason for this difference could be that the cortical nature of brain involvement in SWS reduces the risk for spasticity in comparison with subcortical injuries. Most of these individuals with SWS had therapy needs. Six children who were evaluated more than once made functional gains in association with therapy services. Only one child in this cohort received formalized CIMT, described in the second vignette; she did not sustain all gains obtained with the first course of CIMT, but further benefit was achieved from an additional course of CIMT. The generaliz-ability of this child's experience with CIMT is unclear, especially because the content of pediatric CIMT programs is quite variable, including differences in duration and method for constraint of the dominant arm and duration and intensity of therapy.14
No data were available regarding response to therapy in adulthood.
The fluctuating functional course of some individuals with SWS, highlighted in the first case vignette, sets them apart from individuals with other etiologies of hemiparesis. Individuals with SWS are prone to significant functional setbacks, often associated with seizure activity, as noted previously by a number of authors.1,3,6,15,16
One hypothesis for this phenomenon is that impaired cerebral autoregulation in individuals with SWS during seizure activity results in inadequate delivery of oxygen and glucose to meet the metabolic demand, thereby increasing the risk of ischemic injury.1
The physiatrist must understand the importance of seizure control in optimizing overall function in this population. In addition, the physiatrist should recognize that relatively quick return to prior functional baseline may be possible with therapeutic intervention.
Cognitive concerns were identified for more than half of the individuals with SWS evaluated by a physiatrist. Our estimate of cognitive concerns must be interpreted with caution in the youngest (and largest) group of children, given our use of informal parent report of expressive language delays as a proxy for cognitive development. Although parent report of toddler's language skills using a formalized measure has been shown to correlate with child's cognitive function,17
it is unknown whether informal parent reporting is as reliable as use of a standardized measure. Our experience to date suggests that isolated expressive aphasia (without cognitive deficits) does not occur commonly in this population. In fact, given that expressive language is mediated by the frontal lobe, deficits in this domain are likely to be a marker for larger extent of cerebral abnormalities, and therefore broader cerebral dysfunction, in SWS in the same manner that hemiparesis in individuals with SWS is associated with greater generalized adaptive dysfunction.9
Furthermore, our estimate of cognitive concerns in two thirds of young children with SWS is consistent with previous reports of intellectual disability in 50%–60% of individuals with SWS,18
given that previous work did not account for cognitive deficits observed in individuals with SWS but without intellectual disability, such as specific learning disabilities6
and attention deficit hyperactivity disorder.7
The presence of cognitive concerns in 50% or more of individuals with SWS highlights the need for early and continued attention to cognitive function in these patients. Several risk factors for cognitive and adaptive deficits in SWS can be identified in clinical history or physiatric evaluation or both, including onset of seizures before 9 mos of age, poor seizure control, and the presence of hemiparesis.1,9
Neuropsychological testing is often useful before initiation of formal education and as needed over time based on disease-related functional decline and to optimize educational and vocational opportunities. Furthermore, the presence of adults in this cohort who were unable to live and work independently underscores the importance of early consideration of needs related to transition to adulthood, as is recommended for all children with disabilities.19,20
A number of behavioral concerns were identified in this cohort, which is consistent with a previous report of increased mood and compliance issues in children with SWS compared with their unaffected siblings.21
This highlights the importance of screening for symptoms of behavioral disorders among individuals with SWS and referring for additional care, if indicated.
Although this cohort provides a unique opportunity to examine the physiatric needs of individuals with SWS, several important biases must be recognized. Many individuals evaluated at the Center travel from out of state, reflecting a bias toward families with resources to identify and visit a specialty center. Based on severity of hemiparesis, individuals who sought physiatric care had worse function than those individuals with SWS who did not seek physiatric evaluation; thus, the findings reported here cannot be extrapolated to all individuals with SWS. Finally, the number of school age and adult individuals in this cohort is small, and in these groups in particular, the reported findings may not be representative of the needs and function of all individuals with SWS.