New study paves way for future treatments in rare brain disorder

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: Male CTD patients (n=24) * Male CTD patients having a confirmed mutation in the SLC6A8 gene, * Aged \> 5 to \< 35 years * Whose maternal language is French, * Having signed the informed consent and/or for whom parents/legal guardian have signed the informed consent, * Affiliated to national Health Insurance system or parents/legal guardian affiliated to national health insurance system. Female CTD patients (n=15) * Female CTD patients having a confirmed mutation in the SLC6A8 gene, * Aged \> 5 to \< 60 years, * Whose maternal language is French, * Having signed the informed consent and/or for whom parents/legal guardian have signed the informed consent. * Affiliated to national Health Insurance system (sécurité sociale) or parents/legal guardian affiliated to national health insurance system Sex- and chronological age-matched controls (n=24) * Male * Aged \> 5 to \< 35 years * Whose maternal language is French, * Having signed the informed consent and/or for whom parents/legal guardian have signed the informed consent, * Affiliated to national health insurance system or parents/legal guardian affiliated to national health insurance system. Sex- and chronological age-matched female controls (n=15) * female, * Aged \> 5 to \< 60 years, * Whose maternal language is French, * Having signed the informed consent and/or for whom parents/legal guardian have signed the informed consent * Affiliated to national Health Insurance system (sécurité sociale) or parents/legal guardian affiliated to national health insurance system Sex- and mental age-matched controls (n=39) * Male and female * Aged \> 2 to \< 8 years * Whose maternal language is French, * For whom parents/legal guardian have signed the informed consent, * Affiliated to national health insurance system or parents/legal guardian affiliated to national health insurance system. Typically developed children (n=80) * Male and female * Aged \> 2 to \< 8 years * Whose maternal language is French, * For whom parents/legal guardian have signed the informed consent, * Affiliated to national health insurance system or parents/legal guardian affiliated to national health insurance system. Sex- and chronological age-matched controls and Sex- and mental age-matched controls, aged \< 8 years, could also be included in the Typically developed children group, as the data from the Typically developed children are only necessary to complete the developmental trajectory of the new tasks. Non-inclusion Criteria: CTD patients (n=39): * Having a contraindication to the MRI examination (people using a pacemaker or an insulin pump, people wearing a metal prosthesis or an intracerebral clip, and claustrophobic subjects), * Refusal of the subject and/or the subject's parents to be informed of possible abnormalities detected by MRI, * Refusal of the subject and/or the subject's parents/legal guardian to be informed of possible abnormalities detected during the cardiac assessment. Sex- and chronological age-matched controls (n=39) * History of neurological or psychiatric disorder, * Repetition of a grade, * Learning disability requiring rehabilitation (speech therapy, psychomotor or oculomotor therapy), * For participants agreeing on performing the MRI examination, having a contraindication to the MRI examination (use of a pacemaker or an insulin pump, people wearing a metal prosthesis or an intracerebral clip, and claustrophobic subjects) and refusal of the subject and/or the subject's parents/legal guardian to be informed of possible abnormalities detected by MRI. Sex- and mental age-matched controls (n=39) * History of neurological or psychiatric disorder, * Repetition of a grade, * Learning disability requiring rehabilitation (speech therapy, psychomotor or oculomotor therapy). Typically developed children (n=80) * History of neurological or psychiatric disorder, * Repetition of a grade, * Learning disability requiring rehabilitation (speech therapy, psychomotor or oculomotor therapy).