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CREAT_criteria: What have we learned regarding CTD patient epilepsy? A prospective study increatine transporter deficiency (SLC6A8) patients to determine the most relevant outcome measures
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Edité par CCSD -
International audience. Creatine Transporter Deficiency (CTD) is a rare genetic disorder related to SLC6A8 pathogenicvariants, leading to moderate-to-severe Intellectual Disability. As new therapeutic avenues areemerging, it is necessary to identify objective, reliable and sensitive outcome measures.To determine these relevant endpoints and describe clinical/cognitive profile in CTD, using bothexisting neuropsychological tests, and new outcome measures specifically developed for CTD,we performed a prospective study on 24 French Male CTD patients. We precisely described CTDdevelopmental trajectory, neurological/morphological examination, actimetry, cognitiveassessment (Leiter, Simple reasoning tasks on tablet with 4 increasing difficulty levels),language (PPVT-5, EVT-3), motor assessment (kinematic task, Purdue-Pegboard), Socialassessment (ADOS, eye-tracking analysis of social visual scenes), as well as parentalquestionnaires (Vineland, ABC, PDD-MRS, CBI). Moreover, neuroimaging analysis was performedincluding spectroscopy with precise quantification of the creatine peak.We present here preliminary results on the first 23 CTD patients included in the study (mean age16.7 years, [6.7 to 26.9]). Mean non verbal IQ was 55.5 [30-75]. 96% of the CTD patients couldperform the first level of simple reasoning tasks (match-to-sample), 83% the second level(categorization), 70% the SimpleMatrices task, and 65% could perform the implicit rules learningtask. Tasks on tablets could be easily performed at home under remote supervision throughvisioconference. All patients were able to perform eye-tracking analysis. The mean averagesteps per day was 12265.This study will contribute to define the outcome measures that could be used in future clinicaltrials in CTD patients despite their cognitive deficit.
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