protocolSection identificationModule nctId: NCT06378216, orgStudyIdInfo id: MEDEA 975, briefTitle: Myotonic Dystrophy Type 1 Congenital and Juvenile Form: From Diagnosis to Rehabilitation [MDCJ-NeuBeRe], acronym: MDCJ-NeuBeRe, statusModule overallStatus: RECRUITING, startDateStruct date: 2022-09-15, primaryCompletionDateStruct date: 2024-03-18, completionDateStruct date: 2024-12-30, studyFirstPostDateStruct date: 2024-04-22, lastUpdatePostDateStruct date: 2024-04-22, sponsorCollaboratorsModule leadSponsor name: IRCCS Eugenio Medea, class: OTHER, descriptionModule briefSummary: The rationale of the study is to collect structured data in the neuropsychological, clinical neuroradiologic and neurorehabilitation fields in children/young people affected by congenital and juvenile myotonic dystrophy. Children affected by the congenital form (CDM1) present important brain alterations present since birth while, on the contrary, patients with the adult form of DM1 often present a degenerative, slowly progressive neurocognitive picture. Promising therapies that aim to correct the molecular mechanism underlying the symptoms of adult forms of DM1 are under development, but their potential role at the level of the nervous system and in particular in forms of CDM1 (which appears to be a distinct disorder of neuronal development) is also to be clarified.To this end, a better definition of neurocognitive profiles and their evolution is essential for the purposes of evaluating the effectiveness of experimental therapies., conditionsModule conditions: Myotonic Dystrophy 1, designModule studyType: OBSERVATIONAL, designInfo observationalModel: CASE_ONLY, timePerspective: OTHER, enrollmentInfo count: 30, type: ESTIMATED, armsInterventionsModule interventions name: neurocognitive evaluations, outcomesModule primaryOutcomes measure: Motor function evaluation by Muscular Impairment Rating Scale, primaryOutcomes measure: cognitive evaluation by Wechsler Intelligence scale, primaryOutcomes measure: cognitive evaluation by Raven Matrices, primaryOutcomes measure: cognitive evaluation by Continous Performance Test 3, primaryOutcomes measure: cognitive evaluation by Trail Making Test A-B, primaryOutcomes measure: cognitive evaluation by Digit Span and CORSI Test, primaryOutcomes measure: cognitive evaluation by Rey Figure test, secondaryOutcomes measure: clinical evaluation by Epworth Sleepiness Scale, secondaryOutcomes measure: cognitive evaluation by Wisconsin Card Sorting Test, secondaryOutcomes measure: cognitive evaluation by Tower of London test, secondaryOutcomes measure: cognitive and behavioral evaluation by Minnesota Multiphasic Personality Inventory, secondaryOutcomes measure: cognitive and behavioral evaluation by Vineland Adaptive Behavior Scales, eligibilityModule sex: ALL, minimumAge: 1 Year, maximumAge: 35 Years, stdAges: CHILD, stdAges: ADULT, contactsLocationsModule locations facility: Maria Grazia D'Angelo, status: RECRUITING, city: Bosisio Parini, state: Lecco, zip: 23842, country: Italy, contacts name: Maria Grazia D'Angelo, role: CONTACT, phone: +39031 877870, email: grazia.dangelo@lanostrafamiglia.it, geoPoint lat: 45.80075, lon: 9.29, hasResults: False