ABSTRACT
Sturge-Weber syndrome (SWS) is characterized by seizures, port-wine birthmarks, vascular malformations, and rarely studied psychobehavioral features. This study describes a small group of outpatients (N = 16, age, 3-34 years) with Sturge-Weber syndrome seeking medical services (due to seizures, ophthalmological, and dermatological problems among others). The patients were screened for psychiatric diagnoses. The most frequent diagnoses were mood disorder (31%), disruptive behavior disorder (25%), and adjustment disorder (25%). A substance-related disorder was the most frequent in adults (67%). A significant association was found between disruptive behavior disorder not otherwise specified and more left frontal and left parietal involvement. A trend toward significant association of having a seizure in the past 3 months with disruptive behavior disorder not otherwise specified was observed. Problems with mood, attention, sleep, learning, and substance use were common. Disruptive behavior disorders and their association with medical conditions should be further investigated.
Subject(s)
Sturge-Weber Syndrome/psychology , Adjustment Disorders/complications , Adolescent , Adult , Attention Deficit and Disruptive Behavior Disorders/complications , Brain/pathology , Chi-Square Distribution , Child , Child, Preschool , Female , Humans , Magnetic Resonance Imaging , Male , Mood Disorders/complications , Psychiatric Status Rating Scales , Socioeconomic Factors , Statistics, Nonparametric , Sturge-Weber Syndrome/complications , Sturge-Weber Syndrome/diagnosis , Sturge-Weber Syndrome/pathology , Young AdultABSTRACT
Sturge-Weber Syndrome (SWS) is a rare neurocutaneous disorder involving facial capillary malformation (port-wine birthmark) and vascular malformation of the brain that is frequently associated with epilepsy, stroke-like episodes, cognitive deficits, motor impairment, and/or visual field cut. The four cases presented here (ages 8-9, two females) illustrate the broad range of physiologic involvement and associated neuropsychological functioning in SWS, and argue against the idea of a "typical" SWS neuropsychological presentation. Rather, we highlight a preliminary collection of disease status/severity factors thought to impact neuropsychological presentation in SWS, including degree of cortical involvement (unilateral versus bilateral; posterior only versus posterior/anterior), age at time of seizure onset, extent of seizure control, history of stroke-like episodes, and magnitude of neurologic decline/deficit. We discuss the need for broad-based assessment in this medical population, as various impairment combinations (e.g., perceptual, language, executive) create unique presentations as well as the need for individualized intervention.
Subject(s)
Cerebral Cortex/abnormalities , Sturge-Weber Syndrome/physiopathology , Sturge-Weber Syndrome/psychology , Child , Epilepsy , Female , Headache Disorders, Primary , Humans , Magnetic Resonance Imaging , Male , Neurologic Examination , Neuropsychological Tests , Port-Wine Stain , Risk Factors , Sturge-Weber Syndrome/diagnosisABSTRACT
This study sought to identify neurologic correlates of adaptive functioning in individuals with Sturge-Weber syndrome. A total of 18 children, adolescents, and young adults with Sturge-Weber syndrome with brain involvement were recruited from our Sturge-Weber center. All underwent neurologic examination (including review of clinical brain magnetic resonance imaging) and neuropsychological assessment. Neuropsychological assessment included measures of intellectual ability and standardized parent report of adaptive functioning. Overall, Full Scale IQ and ratings of global adaptive functioning were both lower than the population-based norms (P < .05). Negative correlations were identified between adaptive functioning ratings, clinician ratings of cortical abnormality, and ratings of neurologic status. Hemiparesis (minimal versus prominent) was the only individual component of the rating scales that differentiated between individuals with nonimpaired and impaired adaptive functioning scores. Information obtained during neurological examination of children and adolescents with Sturge-Weber syndrome particularly hemiparetic status is useful for identifying children who may need additional intervention.
