myotonic dystrophy type 1 congenital and juvenile form: from diagnosis to rehabilitation [mdcj-neubere]

Conditions: Myotonic Dystrophy 1

Summary: 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.

a. recruitment of patients with a defined diagnosis of myotonic dystrophy type 1 (see following inclusion and exclusion criteria) b) clinical and cognitive evaluation 1. neurological and neuromuscular examination, compilation of the mirs-muscle scale and epworth scale-daytime sleepiness (1 session of approximately 1 hour); 2. administration of a neuropsychological battery, in order to define the level of cognitive functioning and to frame a detailed function-specific profile (multiple sessions to be defined based on the collaboration of the patients) investigating the following areas: 1. intelligence quotient; 2. attention; 3. memory; 4. visual-constructive skills and executive functions 3. psychiatric examination and administration of psychological tests (mmpi-2, minnesota multiphasic personality inventory 2) to investigate any psychopathologies (behavioral disorders, anxiety disorders, developmental disorders, hyperactivity/attention deficit) and to define the psychological-behavioral profile and adaptive (vineland adaptive behavioral scale) 4. neuroimaging examination through morphological magnetic resonance and diffusor tensor imaging and voxel based morphometry protocols 5. based on the clinical conditions, a cardiological evaluation will also be carried out (including instrumental tests such as electrocardiogram ecg, echocardiogram and 24-hour ecg) and pneumological evaluation (with recording of nocturnal oximetry, spirometry), eye examination, phoniatric examination and logopedic evaluation (aimed at evaluating chewing/swallowing)

Eligibility criteria:
inclusion criteria: 1. genetically defined diagnosis of steinert myotonic dystrophy 2. age \<35 years 3. reading and signing the informed consent. for the congenital form: presence of hypotonia and weakness at birth, for the juvenile form: onset between 1 and 10 years with normal pre-perinatal history. exclusion criteria 1. other concomitant pathologies that completely prevent the execution of clinical assessments 2. presence of devices and prostheses that prevent the execution of the mri 3. lack of family compliance. -

Keywords: myotonic dystrophy congenital form myotonic dystrophy infantile form neuropsychological evaluation behavioral evaluation brain imaging study