Self-injurious behavior and tuberous sclerosis complex: Frequency and possible associations in a population of 257 patients

Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Epilepsy & Behavior (Impact Factor: 2.06). 09/2008; 13(4):650-3. DOI: 10.1016/j.yebeh.2008.07.010
Source: PubMed

ABSTRACT Self-injurious behavior (SIB) has been observed in people with tuberous sclerosis complex (TSC), although the frequency of SIB in TSC is largely unknown. SIB is associated with intellectual and developmental disabilities, but there is no single cause of SIB. We retrospectively examined the frequency of SIB in a population of 257 patients with TSC and determined possible associations with SIB. We found a 10% frequency of SIB in our TSC population. When compared with patients without psychiatric symptoms, we identified a significantly higher rate of electroencephalographic interictal spikes in the left frontal lobe and a significantly lower number of tubers in the left occipital, parietal, and posterior temporal lobes. We also found that frequency of TSC2 mutation, history of infantile spasms, history of seizures, mental retardation, and autism are significantly associated with SIB.

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    ABSTRACT: Background Tuberous Sclerosis Complex (TSC) is a multi-system disorder that includes a range of TSC-associated neuropsychiatric disorders (TAND). The lifetime prevalence rates of TAND are very high, yet surveys suggest that the majority of individuals with TSC never receive appropriate assessment or treatment for TAND. To aid systematic enquiry, a TAND Checklist was developed. Here we performed pilot validation of the TAND Checklist. Method Mixed-methods were used across two stages. In stage 1 we gathered feedback on the Checklist from TSC ‘expert professionals’ and ‘expert parents/caregivers’. The aim was to examine face and content validity. Stage 2 involved the administration of the refined TAND Checklist to 20 parents of individuals with TSC concurrently with four widely used, validated rating scales, in order to examine external validity and to obtain qualitative feedback on face-to-face administration of the Checklist. Results Twenty professionals and 62 parents/caregivers from 28 countries participated in the pilot. The TAND Checklist demonstrated good face and content validity with high overall mean and median scores. Qualitative analysis highlighted concerns about the likely use of the Checklist, suggesting that family members and individuals with TSC should drive usage. Stage 2 results showed moderate to very good external validity across TAND domain and key subdomains. Internal consistency of domains and subdomains was acceptable to very good. Ninety three percent of all participants (93%) reported 4 or more lifetime TAND behavioral difficulties. Conclusion The pilot validation suggested that the TAND Checklist could provide a useful screening tool in clinical settings.
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