Giovanni Colacicco
SLEEPY PATIENTS WITH MYOTHONIC DYSTROPHY TIPE 1 DO NOT HAVE A DISTINCT NEUROPSYCHOLOGICAL AND NEUROIMAGING PATTERN COMPARED TO NON SLEEPY PATIENTS
Autori
- GIOVANNI COLACICCO (NEMO CLINICAL CENTER, NEUROREHABILITATION UNIT, UNIVERSITY OF MILAN – NEUROLOGIA)
- CAROLA RITA FERRARI AGGRADI (NEMO CLINICAL CENTER, NEUROREHABILITATION UNIT, UNIVERSITY OF MILAN – NEUROLOGIA)
- MANACORDA FILIPPO (UNIVERSITY OF MILAN – )
- RICCARDI SEBASTIANO (UNIVERSITY OF MILAN – )
- CASIRAGHI JACOPO (NEMO CLINICAL CENTER, NEUROREHABILITATION UNIT, UNIVERSITY OF MILAN – PSICOLOGIA)
- BARP ANDREA (NEMO CLINICAL CENTER TRENTO – NEUROLOGIA)
- STANO SALVATORE (NEMO CLINICAL CENTER TRENTO – NEUROLOGIA)
- LIZIO ANDREA (NEMO CLINICAL CENTER, NEUROREHABILITATION UNIT, UNIVERSITY OF MILAN – BIOSTATISTICA)
- VITALI PAOLO (POLICLINICO SAN DONATO, UNIVERSITY OF MILAN – RADIOLOGIA)
- ZANARDO MORENO (POLICLINICO SAN DONATO, UNIVERSITY OF MILAN – TECNICO RADIOLOGIA)
- SARDANELLI FRANCESCO (POLICLINICO SAN DONATO, UNIVERSITY OF MILAN – RADIOLOGIA)
- ZUCCARINO RICCARDO (NEMO CLINICAL CENTER TRENTO – MEDICINA FISICA E RIABILITATIVA)
- SANSONE VALERIA (NEMO CLINICAL CENTER, NEUROREHABILITATION UNIT, UNIVERSITY OF MILAN – NEUROLOGIA)
Presentatore
GIOVANNI COLACICCO
Modalità
Poster Session
Abstract
“INTRODUCTION/AIM Excessive daytime sleepiness(EDS)is highly prevalent in DM1 and is an important burden for patients. It is less clear is whether sleepy patients have a specific pattern of white matter hyperintense lesions and neuropsychological profile.Aim of this study is to investigate whether we can detect brain functional and neuropsychological changes which can identify and characterize patients with EDS within DM1.
METHODS Genetically confirmed ambulant adults were subjected to neuromotor, respiratory and a complete battery of neuropsychological tests. BrainMRI studies allowed use to quantify white matter hyperintensity with Fazekas index (traditional MRI) and with WMH quantification (software QuantibND). Epworth Sleepiness Scale (ESS) was used to identify sleepy (EES>10) from not sleepy patients.
RESULTS 21 ambulant consecutive patients with a genetic diagnosis of DM1 (mean age 42.2+11.4y)with a stable respiratory status were recruited.Of these, 6 fulfilled criteria for EDS.Sleepy subjects were younger than non-sleepy(median age 37.17+ 11.62 vs 44.27+11.13).Fazekas index and WMH quantification analysis was similar in the 2 cohorts (FZ 0.83+1.17 in sleepy patients vs 1.13+ 1.73 in non sleepy; WMH count 26.50+28.07 vs 28.64+28.26 , WMH relative volume 0.05%+0.12 vs 0.06%+0.11, WMH total volume 0.69ml+1.22 vs 0.69mL+0.99)).No significant differences were found on neuropsychological tests.
DISCUSSION Preliminary data show that there seem to be no distinctive neuropsychological and neuroimaging data characterizing sleepy vs non-sleepy subjects.However sleepy patients in our cohort were younger than non sleepy subjects yet having a similar neuroimaging pattern.Ongoing data on additional patients and on CSF analysis will help to better understand the sleep-wake cycle abnormalities in DM1.”