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Self-injurious behavior and tuberous sclerosis complex: Frequency and possible associations in a population of 257 patients
Institution:1. Department of Neurology, Massachusetts General Hospital, Boston, MA, USA;2. Massachusetts General Hospital Institute for Technology Assessment, Boston, MA, USA;3. Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA;1. Respiratory and Allergy Units, Arrixaca Children''s University Hospital, University of Murcia, Spain;2. IMIB Bioresearch Institute, Spain;1. Neurology Unit, Department of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia;2. Department of Community Health, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia;3. Department of Psychiatry, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia;1. Department of Urology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, 190011, India;2. Department of Urology and Renal Transplant, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, 190011, India;3. Urology Sher-i-Kashmir Institute of Medical Sciences, Srinagar, India;1. Oxford Healthcare Centre, Oxford Road, Saxonwold, Johannesburg, South Africa;2. Wits Donald Gordon Medical Centre, Parktown, Johannesburg, South Africa;3. Department of Psychiatry, University of the Witwatersrand, Johannesburg, South Africa;1. Department of Neurology, Boston Children''s Hospital, Harvard Medical School, Boston, Massachusetts;2. Division of Newborn Medicine, Department of Medicine, Boston Children''s Hospital, Harvard Medical School, Boston, Massachusetts;3. Clinical Research Center, Boston Children''s Hospital, Boston, Massachusetts;4. Department of Radiology, Boston Children''s Hospital, Harvard Medical School, Boston, Massachusetts;5. Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts;6. Fetal-Neonatal Neuroimaging and Developmental Science Center, Boston Children''s Hospital, Harvard Medical School, Boston, Massachusetts
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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