John M Schreiber1, Diane C Lanham1, William H Trescher1, Susan E Sparks1, Christopher A Wassif1, Brian S Caffo1, Forbes D Porter1, Elaine Tierney1, Andrea L Gropman1, Joshua B Ewen2. 1. From the EEG Section, NINDS (J.M.S.), Medical Genetics Branch, National Human Genome Research Institute (S.E.S., A.L.G.), and Program on Developmental Endocrinology and Genetics, NICHD (C.A.W.), NIH, Bethesda; Departments of Child and Adolescent Psychiatry (D.C.L., E.T.) and Neurology and Developmental Medicine (W.H.T., J.B.E.), Kennedy Krieger Institute, Baltimore; Departments of Neurology (W.H.T., J.B.E.) and Psychiatry and Behavioral Sciences (E.T.), Johns Hopkins University School of Medicine, Baltimore, MD; Department of Pediatric Neurology (W.H.T., F.D.P.), Penn State Hershey Children's Hospital, Hershey, PA; Department of Biostatistics (B.S.C.), Johns Hopkins University School of Public Health, Baltimore, MD; Department of Neurology (A.L.G.), Children's National Medical Center; and George Washington University of the Health Sciences (A.L.G.), Washington, DC. 2. From the EEG Section, NINDS (J.M.S.), Medical Genetics Branch, National Human Genome Research Institute (S.E.S., A.L.G.), and Program on Developmental Endocrinology and Genetics, NICHD (C.A.W.), NIH, Bethesda; Departments of Child and Adolescent Psychiatry (D.C.L., E.T.) and Neurology and Developmental Medicine (W.H.T., J.B.E.), Kennedy Krieger Institute, Baltimore; Departments of Neurology (W.H.T., J.B.E.) and Psychiatry and Behavioral Sciences (E.T.), Johns Hopkins University School of Medicine, Baltimore, MD; Department of Pediatric Neurology (W.H.T., F.D.P.), Penn State Hershey Children's Hospital, Hershey, PA; Department of Biostatistics (B.S.C.), Johns Hopkins University School of Public Health, Baltimore, MD; Department of Neurology (A.L.G.), Children's National Medical Center; and George Washington University of the Health Sciences (A.L.G.), Washington, DC. Ewen@kennedykrieger.org.
Abstract
OBJECTIVE: We sought to examine the prevalence of EEG abnormalities in Smith-Lemli-Opitz syndrome (SLOS) as well as the relationship between interictal epileptiform discharges (IEDs) and within-subject variations in attentional symptom severity. METHODS: In the context of a clinical trial for SLOS, we performed cross-sectional and repeated-measure observational studies of the relationship between EEG findings and cognitive/behavioral factors on 23 children (aged 4-17 years). EEGs were reviewed for clinical abnormalities, including IEDs, by readers blinded to participants' behavioral symptoms. Between-group differences in baseline characteristics of participants with and without IEDs were analyzed. Within-subject analyses examined the association between the presence of IEDs and changes in attention-deficit/hyperactivity disorder (ADHD) symptoms. RESULTS: Of 85 EEGs, 43 (51%) were abnormal, predominantly because of IEDs. Only one subject had documented clinical seizures. IEDs clustered in 13 subjects (57%), whereas 9 subjects (39%) had EEGs consistently free of IEDs. While there were no significant group differences in sex, age, intellectual disability, language level, or baseline ADHD symptoms, autistic symptoms tended to be more prevalent in the "IED" group (according to Autism Diagnostic Observation Schedule-2 criteria). Within individuals, the presence of IEDs on a particular EEG predicted, on average, a 27% increase in ADHD symptom severity. CONCLUSIONS: Epileptiform discharges are common in SLOS, despite a relatively low prevalence of epilepsy. Fluctuations in the presence of epileptiform discharges within individual children with a developmental disability syndrome may be associated with fluctuations in ADHD symptomatology, even in the absence of clinical seizures.
RCT Entities:
OBJECTIVE: We sought to examine the prevalence of EEG abnormalities in Smith-Lemli-Opitz syndrome (SLOS) as well as the relationship between interictal epileptiform discharges (IEDs) and within-subject variations in attentional symptom severity. METHODS: In the context of a clinical trial for SLOS, we performed cross-sectional and repeated-measure observational studies of the relationship between EEG findings and cognitive/behavioral factors on 23 children (aged 4-17 years). EEGs were reviewed for clinical abnormalities, including IEDs, by readers blinded to participants' behavioral symptoms. Between-group differences in baseline characteristics of participants with and without IEDs were analyzed. Within-subject analyses examined the association between the presence of IEDs and changes in attention-deficit/hyperactivity disorder (ADHD) symptoms. RESULTS: Of 85 EEGs, 43 (51%) were abnormal, predominantly because of IEDs. Only one subject had documented clinical seizures. IEDs clustered in 13 subjects (57%), whereas 9 subjects (39%) had EEGs consistently free of IEDs. While there were no significant group differences in sex, age, intellectual disability, language level, or baseline ADHD symptoms, autistic symptoms tended to be more prevalent in the "IED" group (according to Autism Diagnostic Observation Schedule-2 criteria). Within individuals, the presence of IEDs on a particular EEG predicted, on average, a 27% increase in ADHD symptom severity. CONCLUSIONS:Epileptiform discharges are common in SLOS, despite a relatively low prevalence of epilepsy. Fluctuations in the presence of epileptiform discharges within individual children with a developmental disability syndrome may be associated with fluctuations in ADHD symptomatology, even in the absence of clinical seizures.
Authors: Joshua B Ewen; Eileen P Vining; Cynthia A Smith; William H Trescher; Eric H Kossoff; Barry Gordon; Dana Boatman-Reich Journal: Epilepsy Res Date: 2011-09-14 Impact factor: 3.045
Authors: Ruthellen H Anderson; Kem A Sochacki; Harika Vuppula; Brandon L Scott; Elizabeth M Bailey; Maycie M Schultz; Jason G Kerkvliet; Justin W Taraska; Adam D Hoppe; Kevin R Francis Journal: Cell Rep Date: 2021-11-16 Impact factor: 9.423