Relevant Outcome Measures for Creatine Transporter Deficiency Patient

"1. Number of epileptic seizures~2. Change in antiepileptic treatment (increase or decrease)~3. Visual analogical scale on a target symptom defined with the parents,~4. CGI,~5. Actimetry data over 24 hours,~6. Podometry data over 24 hours,~7. 6 minutes' walk test,~8. Clinical examination~9. Feasibility of performing an MRI without any anesthesia on a mock scanner"

"10- Adaptive assessment with Vineland Adaptive Behavior scale II,~11- Mac Arthur questionnaire regarding language,~12- Pervasive Development Disorder in Mentally Retarded persons Scale (PDD-MRS),~13- Dunn sensory profile,~14- Aberrant Behavior Checklist,~15- Nisonger Child Behavior Rating form,~16- Social Responsiveness Scale 2,~17- Scales assessing the impact on primary caregiver (CBI-M/ Beach Center Family QOL)"

18- Quality of life scale (PedsQL 4.0 for children or San Martin scale if the patient is older than 18)

"19- Leiter 3 scale (4 cognitive sub-tests to be able to compute the non-verbal IQ and 2 non-verbal memory sub-tests) or Bayley 4 if Leiter 3 is not possible~20- CPM-BF~21- Simple reasoning task on tablet (match-to-sample task)~22- Implicit rules learning (modified Brixton),~23- 4 sub-tests from the WPPSI-IV (zoo location to assess spatial memory, block design to assess visuo-constructive abilities, bug search , cancellation),~24- Attention assessment (4 sub-tests from KITTAP: alert, go/no go, flexibility, divided attention),~25- Elementary visuo-spatial perception (on tablets)"

"26- EXALANG 3-6 (10 sub-tests testing for expressive and receptive language assessments),~27- PPVT-5 (receptive vocabulary), EVT-3 (expressive vocabulary),~28- Automatic language analysis (during a 10 minutes interaction, play)."

"29- Kinematic task (specifically designed),~30- Purdue-Pegboard test,~31- Renzi test"

"32- Eye-tracking analysis of social visual scenes and social preference index (movies),~33- theory of mind assessment,~34- ADOS scale (Autism Spectrum Disorder),~35- sensitivity to inequality,~36- pro-social behaviors (help of the psychologist)"

37- Structural, metabolic and functional data

"38- ECG~39- Ultrasound"

"40- Blood sample~41- Urinary sample~42- Superficial skin biopsy"