Moebius Syndrome International Database Updated: May 10, 2004

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Moebius Syndrome International
DatabaseUpdated May 10, 2004
ICBD
Rebecca Facchini, Pierpaolo Mastroiacovo
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AcknowledgementsICBD (International Centre for
Birth Defects) thanksRenzo De Grandi -
President of Moebius Syndrome Association, Italy
- for the Italian dataset Vicky McCarrell -
President of Moebius Syndrome Foundation, USA for
the American datasetFernando Regla Vargas -
Instituto Fernandes Figueira, Brasil for the
Brazilian datasetand the families for
participation in the research.
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• Lack of scientific production!

• Difficulty to offer an appropriate and timely
  diagnosis!

• Difficulty to offer valid treatment to the
  patient!

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Creating Registers or
Databases of patology
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Disadvantages of a database

• Impossibility to make a precise estimate of
  prevalence and incidence of the illness

• Risk of incurring possible selection bias

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Advantages of a database

• Lowest involvement of human and economic resources

• Largest feasibility

• Optimization of clinical cases of various origin

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Objectives of the database

• To identify the largest number of people
  afflicted by the syndrome

• To create a strategic alliance between the
  afflicted people (and their families) and the aim
  to improve new scientific knowledge

• To use the database for scientific research that
  describes the quality of affected people life.

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Information required

• Personal data (sex, age, educational level, type
  of work)

• Diagnostic data (period occurred to diagnose the
  illness since the birth, the name of the centre
  that has diagnosed the syndrome, description of
  principal symptoms, cranial nerves involved)

• Basic support data (specialistic medical
  examinations and relative frequence)

• Basic medical information on the relatives
  (illnesses, malformations, relationship)

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Italy
Total number of the patients
70
45
Female
25
Male
Average
Average
16.4
years
12
years
Min
1 year
Min
1year
Max
62 years
Max
47years
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USA
Total number of the patients
77
32
Female
45
Male
Average (31/32 pz.)
Average
16.8
years
16.4
years
Min
0,6 months
Min
1 months
Max
54 years
Max
63 years
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Brazil
Total number of the patients
35
13
Female
22
Male
Average
Average
10.5
years
11.2
years
Min
8 years
Min
9 years
Max
13 years
Max
15 years
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Distribution of cases by class of age
USA76 cases
ITALY70 cases
BRAZIL35 cases
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3
11
13
5
3
2
3
7
1
5
3
8
1
Number of cases by region of residence
4
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Region of residence
51
Centre that has diagnosed the syndrome
15
Period occurred to diagnose the illness
USA60 CASES
ITALY52 CASES
Median86 days (2,8 months) IQR294 days (9,7
months)
Median298 days (9.8 months) IQR1349 days (44.3
months)
BRAZIL not available
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SPECIALIST CONSULTATED ONCE AT LEAST ITALY USA
(BRAZIL not available)
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SPECIALIST CONSULTATED ONCE AT LEAST ITALY
USA (BRAZIL not available)
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CRANIC NERVES INVOLVED ITALY70 CASES (15
MISSINGS)
I III V VI VII IX XI
XII
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CRANIC NERVES INVOLVED USA77 CASES
I III V VI VII IX XI
XII
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CRANIC NERVES INVOLVED BRAZIL35 CASES
VI VII IX X XII
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Use of drugs
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Misoprostol20
Type of drugs
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Studies ad hoc
1.Study on the sleep and disorders about it
research suggested by Faculty of Psicology
(University of Palermo Chair of Neuropsychiatry
(Prof. M. Roccella) with the Questionnaire
created by Dr.Oliviero Bruni Department of
Neurological and Psychiatric Science University
of Rome La Sapienza
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Pre-school and school questionnaire for the
disorders of sleep

• General data
• Clinical history
• Father information
• Mother information
• The childs sleep

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Objectives

• Better understanding about the childs sleep
• To define the disorders of sleep
• To describe their features in order to find the
  right programme of treatment

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Studies ad hoc
1.Study on the sleep and disorders about it
2.Capture-recapture study
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Objectives

• To try to estimate the italian prevalence of
  Moebius Syndrome using two independent sources

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NEWS
DB
Indicated
Centres of Clinical Genetics
1
1
2
Dr. Luigi Memo U.O.Patologia Neonatale (TV)
0
1
1
D.ssa Livia Garavelli Divisione Pediatria,
Arcispedale S. Maria Nuova (RE)
0
1
1
Prof. Orazio Gabrielli Clinica Pediatrica Salesi
(AN)
1
1
2
Dr. Giuseppe Zampino Clinica Pediatrica,
Policlinico A. Gemelli (RM)
Dr. Gioacchino Scarano Dip Materno-Infantile
Azienda OspG.Rummo(BN)
3
1
4
1
1
0
Prof. Generoso Andria Dipartimento di
Pediatria Università di Napoli FedericoII
6
5
11
TOTALE
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Preliminary data!!!
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Recapture from Centers of Clinical Genetics
0-14
2
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ESTIMATE OF PREVALENCE (95 CI)
0.77x100000 residents, 1/130000 residents. (in
Northern and Central Italy in the class of age
between 0-14 years).
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Preliminary estimate about the whole italian
population
1/130.000 Northern and Central Italy (0-14 years)

• If... the italian diffusion of the Syndrome is
  homogeneous

57.4 cases (italian population from 0 to 14 years
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Studies ad hoc
3.Research on quality of life of affected people
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Moebius Syndrome and quality of life
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Moebius Syndrome and quality of life

• Personal data
• Physical health status
• Daily activities
• Psicological aspect
• Health service/welfare services
• General Data

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• Dimensions covered by the questionnaire
• Problems/limitations concerning general physical
• Problems/limitations concerning motor functioning
• Problems/limitations concerning independent daily
  functioning
• Problems/limitations concerning cognitive
  functioning and school performances
• Problems/limitations in social contacts, with
  parents and peer