OBJECTIVE: The aim of the work described here was to systematically analyze the developmental trajectory of patients with tuberous sclerosis complex (TSC). METHODS: A retrospective longitudinal chart review was performed, selecting patients who received multiple neuropsychological assessments. Intellectual/Developmental Quotients, Adaptive Behavior Composite scores, and clinical data were collected. On available EEGs, interictal epileptiform discharges were counted. RESULTS: Sixty-six (18%) patients with TSC received multiple cognitive and adaptive development assessments. The mean intelligence of this study group remained relatively stable, albeit variable. Significant decline in adaptive functioning was observed, associated with lower age at seizure onset. Patients who underwent neurosurgery prior to baseline testing showed cognitive improvement. Developmental declines were significantly associated with increased numbers of antiepileptic drugs, with a trend toward association with mutation type and interictal epileptiform discharges. CONCLUSION: This study suggests that the developmental course of patients with TSC may be altered by epilepsy comorbidity and neurosurgery, underlining the need for early and effective interventions in this population.
OBJECTIVE: The aim of the work described here was to systematically analyze the developmental trajectory of patients with tuberous sclerosis complex (TSC). METHODS: A retrospective longitudinal chart review was performed, selecting patients who received multiple neuropsychological assessments. Intellectual/Developmental Quotients, Adaptive Behavior Composite scores, and clinical data were collected. On available EEGs, interictal epileptiform discharges were counted. RESULTS: Sixty-six (18%) patients with TSC received multiple cognitive and adaptive development assessments. The mean intelligence of this study group remained relatively stable, albeit variable. Significant decline in adaptive functioning was observed, associated with lower age at seizure onset. Patients who underwent neurosurgery prior to baseline testing showed cognitive improvement. Developmental declines were significantly associated with increased numbers of antiepileptic drugs, with a trend toward association with mutation type and interictal epileptiform discharges. CONCLUSION: This study suggests that the developmental course of patients with TSC may be altered by epilepsy comorbidity and neurosurgery, underlining the need for early and effective interventions in this population.
Authors: Petrus J de Vries; Lucy Wilde; Magdalena C de Vries; Romina Moavero; Deborah A Pearson; Paolo Curatolo Journal: Am J Med Genet C Semin Med Genet Date: 2018-08-16 Impact factor: 3.908
Authors: Marian E Williams; Deborah A Pearson; Jamie K Capal; Anna W Byars; Donna S Murray; Robin Kissinger; Sarah E O'Kelley; Ellen Hanson; Nicole M Bing; Bridget Kent; Joyce Y Wu; Hope Northrup; E Martina Bebin; Mustafa Sahin; Darcy Krueger Journal: Am Psychol Date: 2019-04
Authors: Agnies M van Eeghen; Margaux E Black; Margaret B Pulsifer; David J Kwiatkowski; Elizabeth A Thiele Journal: Eur J Hum Genet Date: 2011-12-21 Impact factor: 4.246
Authors: Jamie K Capal; Paul S Horn; Donna S Murray; Anna Weber Byars; Nicole M Bing; Bridget Kent; Lindsey A Bucher; Marian E Williams; Sarah O'Kelley; Deborah A Pearson; Mustafa Sahin; Darcy A Krueger Journal: Pediatr Neurol Date: 2017-06-27 Impact factor: 4.210
Authors: I E Overwater; B J H Verhaar; H F Lingsma; G C B Bindels-de Heus; A M W van den Ouweland; M Nellist; L W Ten Hoopen; Y Elgersma; H A Moll; M C Y de Wit Journal: J Neurol Date: 2016-11-22 Impact factor: 4.849
Authors: Anne T Berg; Samya Chakravorty; Sookyong Koh; Zachary M Grinspan; Renée A Shellhaas; Russell P Saneto; Elaine C Wirrell; Jason Coryell; Catherine J Chu; John R Mytinger; William D Gaillard; Ignacio Valencia; Kelly G Knupp; Tobias Loddenkemper; Joseph E Sullivan; Annapurna Poduri; John J Millichap; Cynthia Keator; Courtney Wusthoff; Nicole Ryan; William B Dobyns; Madhuri Hegde Journal: PLoS One Date: 2018-03-08 Impact factor: 3.240
Authors: Alexandra Schoenberger; Jamie K Capal; Annie Ondracek; Paul S Horn; Donna Murray; Anna Weber Byars; Deborah A Pearson; Marian E Williams; Martina Bebin; Hope Northrup; Joyce Y Wu; Mustafa Sahin; Darcy A Krueger Journal: Epilepsy Behav Date: 2019-12-18 Impact factor: 3.337