1. THE ITALIAN DATA BASE Associazione Italiana per la Sindrome di Emiplegia Alternante U.O.di Neuropsichiatria Infantile Ospedale Maggiore “C.A. Pizzardi” Bologna

2. The Italian Data Base

3. Questionnaire for child neuropsychiatrist: Word, Access. Consultation of clinical documentation Parents’ Interview

4. The Italian Data Base- The Questionnaire (1) PATIENT Name-surname Birthdate Place of birth Address Phone number E-mail NEUROPSYCHIATRIST Name-Surname Address Phone number E-mail

5. The Italian Data Base- The Questionnaire (2) PHYSIOLOGICAL HISTORY PREGNANCY DELIVERY CONSANGUINEITY

6. The Italian Data Base- The Questionnaire (3) PAROXYSMAL MANIFESTATIONS COLOR OR TEMPERATURE CHANGE TONIC/DYSTONIC ATTACK HEMIPLEGIA OR LIMPNESS ON ONE SIDE BREATHING DIFFICULTIES EYE MOVEMENT ABNORMALITIES Y/N ANSWER

7. The Italian Data Base- The Questionnaire (3) Age of onset Frequency Length Last observation Semeiology Triggers Age of disappearance HEMIPLEGIA DYSTONIA ABNORMAL OCULAR MOVEMENTS EPILEPSY EPILEPTIC STATUS PAROXYSMAL MANIFESTATION

8. The Italian Data Base- The Questionnaire (4) NON PAROXYSMAL DISORDERS Age of onset Last observation Semeiology Follow up (Improved. Unchanged. Worsened) Any variation With attacks POSTURAL DYSTONIA CHOREOATHETOSIS TREMOR HYPOTONIA COGNITIVE IMPAIRMENT LEARNING DISABILITIES BEHAVIOURAL DISORDERS DEVELOPMENTAL DELAY

9. The Italian Data Base- The Questionnaire (5) COGNITIVE FUNCTION LEARNING DISABILITIES BEHAVIOURAL DISORDERS HAVE BEEN EXAMINED IN DETAIL BY PROF. VIANELLO AND DR. MOALLI FROM PADOVA

10. The Italian Data Base- The Questionnaire (6) SOMATIC FEATURES WILL BE EXAMINED IN DETAIL BY PROF. NERI FROM ROME

11. The Italian Data Base- The Questionnaire (7) DIAGNOSTIC ASSESSMENT EEG POLYGRAPHIC EEG VEP AEP ABR TAC MRI fMRI INTERICTAL SPECT ICTAL SPECT

12. The Italian Data Base- The Questionnaire (8) DIAGNOSTIC METHABOLIC ASSESSMENT CARYOTYPE VLFA LYSOSOMAL ENZYME MUSCLE BIOPSY SKIN BIOPSY AMINOACIDOGRAM ORGANIC ACIDS LACTATE PYRUVATE

13. The Italian Data Base- The Questionnaire (9) THERAPY NAME OF DRUG AGE OF ONSET EFFICACY

14. The Italian Data Base- The Questionnaire (10) DISCUSSION IS THE QUESTIONNAIRE COMPLETE? DO WE NEED FURTHER INFORMATION?

15. The Italian Data Base- The Questionnaire (11) Is there a history of MIGRAINE in your family? Are any other family members affected with AHC? Which is the main clinical symptom/sign at the moment? Has your child ever had an ictal EEG or a VIDEO (ictal) EEG? OTHER SUGGESTIONS? SUGGESTIONS

16. The Italian Data Base Results 29 Italian patients affected with AHC 1 patient refused to take part in the data base 1 patient (from Bologna) is still under investigation 1 patient (from Pisa) we are going to contact 26 patients whose data are already in the data base (22/26) patients are members of the Italian AHC association (AISEA)

17. The Italian Data Base- Results PAROXYSMAL ATTACKS TYPE OF ATTACK AFFECTEDSTILL AFFECTED HEMIPLEGIA 26/2624/26 TETRAPLEGIA 19/26 DYSTONIA 22/2615/26 OCULAR ABNORMALITIES 23/2513/25

18. The Italian Data Base- Results NON PAROXYSMAL DISORDER TYPE OF DISTURBAFFECTEDSTILL AFFECTED DYSTONIA 12/2611/26 CHOREOATETOSIS 13/2612/26 SPASTICITY 11/26 EPILEPSY 12/267/26

19. The Italian Data Base- Results COGNITIVE FUNCTION MENTAL RETARDATION PATIENTS AFFECTED ABSENT 5/26 MILD 10/26 MODERATE 5/26 SEVERE 6/26

20. The Italian Data Base- Results COGNITIVE FUNCTION TYPENORMALDEFECTIVE ATTENTION 13/26 GROSS MOTOR SKILLS 3/2623/26 LANGUAGE 8/2618/26

21. The Italian Data Base- Results THERAPY DRUGN° PATIENTS EFFICACY NIAPRAZINE 8/263/8 FLUNARIZINE 24/2614/24 TRIPT-OH 3/262/3 ACETAZOLAMIDE 5/263/5

22. The Italian Data Base

27. Dott.ssa Antonelli-Firenze Dr Cardona-Rome Dr Cotrufo-Napoli Prof Dalla Bernardina-Verona Dr De Vito, Dr Cioni-Pisa Dott.ssa Faggioli-Ferrara Dr Galeone-Bari Dr Gambardella-Catanzaro Dr Giacanelli- Rome Dr Gobbi- Bologna Dott.ssa Granata- Milan Prof Laverda-Padova Dr Pelliccia-Rome Dr Piccinelli- Varese Prof.Ricci-Rome Dott.ssa Santucci- Bologna Dott.ssa Tedesi- Magenta Prof Veneselli- Genova Prof Vigevano –Rome Dr Zucca- Bosisio Parini

28. Thanks Italian AHC Association – AISEA Dr. Giuseppe Gobbi and Dott.ssa Dora Suglia