the italian data base associazione italiana per la sindrome di emiplegia alternante u.o.di...

THE ITALIAN DATA BASE

Associazione Italiana per la Sindrome

di Emiplegia Alternante

A.I .S.EA On lus

U.O.di Neuropsichiatria InfantileOspedale Maggiore “C.A. Pizzardi”

Bologna

The Italian Data Base


Questionnaire for child neuropsychiatrist:Word,

Access.

Consultation of clinical documentation

Parents’ Interview

The Italian Data Base- The Questionnaire (1)

PATIENTName-surname

BirthdatePlace of birth

AddressPhone number

E-mail

NEUROPSYCHIATRIST Name-SurnameAddress

Phone numberE-mail


PHYSIOLOGICAL HISTORY

PREGNANCY

DELIVERY

CONSANGUINEITY


PAROXYSMAL MANIFESTATIONS

COLOR OR TEMPERATURE CHANGETONIC/DYSTONIC ATTACK

HEMIPLEGIA OR LIMPNESS ON ONE SIDEBREATHING DIFFICULTIES

EYE MOVEMENT ABNORMALITIES

Y/N ANSWER


Age of onsetFrequency

LengthLast observation

SemeiologyTriggers

Age of disappearance

HEMIPLEGIADYSTONIAABNORMAL OCULAR MOVEMENTSEPILEPSYEPILEPTIC STATUS

PAROXYSMAL MANIFESTATION


NON PAROXYSMAL DISORDERS

Age of onsetLast observation

SemeiologyFollow up(Improved.

Unchanged.Worsened)

Any variation With attacks

POSTURAL DYSTONIACHOREOATHETOSISTREMORHYPOTONIACOGNITIVE IMPAIRMENTLEARNING DISABILITIESBEHAVIOURAL DISORDERSDEVELOPMENTAL DELAY


COGNITIVE FUNCTIONLEARNING DISABILITIES

BEHAVIOURAL DISORDERS

HAVE BEEN EXAMINED IN DETAIL BY PROF. VIANELLO AND DR. MOALLI

FROM PADOVA


SOMATIC FEATURES

WILL BE EXAMINED IN DETAIL BY PROF. NERI

FROM ROME


DIAGNOSTIC ASSESSMENT

EEGPOLYGRAPHIC EEG

VEPAEPABR

TACMRIfMRIINTERICTAL SPECTICTAL SPECT


DIAGNOSTIC METHABOLIC ASSESSMENT

CARYOTYPEVLFA

LYSOSOMAL ENZYME

MUSCLE BIOPSYSKIN BIOPSYAMINOACIDOGRAMORGANIC ACIDSLACTATEPYRUVATE


THERAPY

NAME OF DRUGAGE OF ONSET

EFFICACY


DISCUSSION

IS THE QUESTIONNAIRE COMPLETE?

DO WE NEED FURTHER INFORMATION?


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

The Italian Data Base Results

29 Italian patients affected with AHC1 patient refused to take part in the data base1 patient (from Bologna) is still under investigation1 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)

The Italian Data Base- Results

PAROXYSMAL ATTACKS

TYPE OF ATTACK

AFFECTED STILL AFFECTED

HEMIPLEGIA 26/26 24/26

TETRAPLEGIA 19/26 19/26

DYSTONIA 22/26 15/26

OCULAR ABNORMALITIES 23/25 13/25


NON PAROXYSMAL DISORDER

TYPE OF DISTURB AFFECTED STILL

AFFECTED

DYSTONIA 12/26 11/26

CHOREOATETOSIS 13/26 12/26

SPASTICITY 11/26 11/26

EPILEPSY 12/26 7/26


COGNITIVE FUNCTION

MENTAL RETARDATION

PATIENTS

AFFECTED

ABSENT 5/26

MILD 10/26

MODERATE 5/26

SEVERE 6/26


COGNITIVE FUNCTION

TYPE NORMAL DEFECTIVE

ATTENTION 13/26 13/26

GROSS MOTOR SKILLS

3/26 23/26

LANGUAGE 8/26 18/26


THERAPY

DRUG N° PATIENTS

EFFICACY

NIAPRAZINE 8/26 3/8

FLUNARIZINE 24/26 14/24

TRIPT-OH 3/26 2/3

ACETAZOLAMIDE 5/26 3/5


Dott.ssa Antonelli-FirenzeDr Cardona-RomeDr Cotrufo-NapoliProf Dalla Bernardina-VeronaDr De Vito, Dr Cioni-PisaDott.ssa Faggioli-FerraraDr Galeone-Bari Dr Gambardella-CatanzaroDr Giacanelli- RomeDr Gobbi- Bologna Dott.ssa Granata- Milan

Prof Laverda-PadovaDr Pelliccia-RomeDr Piccinelli- VareseProf.Ricci-RomeDott.ssa Santucci- BolognaDott.ssa Tedesi- MagentaProf Veneselli- Genova Prof Vigevano –RomeDr Zucca- Bosisio Parini

Thanks

Italian AHC Association – AISEADr. Giuseppe Gobbi

and Dott.ssa Dora Suglia

the italian data base associazione italiana per la sindrome di emiplegia alternante u.o.di...

Documents