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Document Sample
Moebius Syndrome
International
Database
Updated: May 10, 2004
Rebecca Facchini, Pierpaolo Mastroiacovo
Acknowledgements
ICBD (International Centre for Birth Defects) thanks:
Renzo De Grandi - President of Moebius Syndrome
Association, Italy - for the Italian dataset
Vicky McCarrell - President of Moebius Syndrome
Foundation, USA for the American dataset
Fernando Regla Vargas - Instituto Fernandes Figueira, Brasil
for the Brazilian dataset
and the families for participation in the research.
Rare diseases
•Lack of scientific production!
•Difficulty to offer an
appropriate and timely
diagnosis!
•Difficulty to offer valid
treatment to the patient!
How to avoid this problem?
Creating “Registers”
or
“Databases of patology”
Disadvantages of a database:
• Impossibility to make a precise
estimate of prevalence and
incidence of the illness
•Risk of incurring possible
“selection bias”
Advantages of a database:
•Lowest involvement of human
and economic resources
•Largest feasibility
•Optimization of clinical cases of
various origin
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.
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)
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
USA
Total number
of the patients
77
32 Female 45 Male
Average Average
(31/32 pz.)
16.8 years
16.4 years Min 0,6 months
Min 1 months
Max 54 years
Max 63 years
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
Distribution of cases by class of age
ITALY=70 cases USA=76 cases
BRAZIL=35 cases
50
Number of cases
45
46
40 43
35
30 34
25
20
25
23
15
10
5 1
4 5
0
0-14 15-40 oltre 40
Class of age
Northern Italy 37
3
13 11 Central Italy 16
5
3 Southern Italy 11
2 Insular Italy 5
7 3
1
5
3
8
1
Number of cases by 4
region of residence
Region of residence
Friuli Venezia Giulia
Emilia-Romagna
51%
Lombardia
Campania
Sardegna
Piemonte
Toscana
Marche
Veneto
Umbria
Liguria
Estero
Totale
Puglia
Sicilia
Lazio
Piemonte 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Lombardia 1 6 1 0 0 0 1 1 0 0 0 0 0 0 0 10
Veneto 0 0 6 0 0 0 0 0 0 0 0 0 0 0 0 6
Friuli 0 0 2 1 0 0 0 0 0 0 0 0 0 0 0 3
Liguria 0 0 0 0 1 0 1 0 0 0 0 0 1 0 0 3
Emilia 0 0 0 1 0 0 0 0 2 0 0 1 0 1 0 5
Toscana 1 0 0 0 1 0 2 0 0 1 1 0 1 0 0 7
Umbria 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Marche 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1
Lazio 1 1 0 0 0 0 1 0 0 3 2 0 0 0 0 8
Campania 0 0 0 0 0 0 0 0 0 0 5 0 0 0 0 5
Puglia 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Sicilia 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Sardegna 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Estero 1 1 1 0 0 0 0 0 0 0 0 0 0 0 1 4
Totale 5 8 10 2 2 0 5 1 3 4 8 1 2 1 1 53
Period occurred to diagnose the illness
ITALY=52 CASES USA=60 CASES
Median=298 days (9.8 months) Median=86 days (2,8 months)
IQR=1349 days (44.3 months) IQR=294 days (9,7 months)
BRAZIL= not available
5%
more than 10 years 13%
3%
5 - 10 years 6%
15%
Time
1 - 5 years 25%
25%
3 months - 1 year 27%
12%
1 - 3 months 13% 40%
less than 1 month 15%
0 5 10 15 20 25
N° of cases
SPECIALIST CONSULTATED ONCE AT LEAST
ITALY USA (BRAZIL not available)
60 56/74 55/72
50/76
50 51/74
Number of cases
39/56
40 34/52
30 26/53
17/73
20 15/56
10 26/53
0
t n t t y
g is eo e tis a lis
is tr
lo g
en ci nt
to su G pe e
a ic s D
er
m st ar
D P la E
Specialist
SPECIALIST CONSULTATED ONCE AT LEAST
ITALY USA (BRAZIL not available)
65/73
70 55/58
Number of cases
60 44/72 48/68
40/57 42/55 42/57
50
32/73
40
30
20
10
0
c t t t
di is is is
e og p ul
pa l ra c
o ro e O
th eu o th
O
r N si
P hy
Specialist
CRANIC NERVES INVOLVED
ITALY=70 CASES (15 MISSINGS)
60 52
Number of cases
50
44
40
30
20 15
10
0
I III VI
V 1 VII IX XI XII
Cranic nerves
CRANIC NERVES INVOLVED
USA=77 CASES
70
62
60
Number of cases
56
50
40
30 21 25
20
20 16
10
0
I III V 1
VI VII IX XI XII
Cranic nerves
CRANIC NERVES INVOLVED
BRAZIL=35 CASES
35
30
32
Number of
25 24
cases
20
15
10
10 8 7
5
0
VI 1 VII IX X XII
Cranic nerves
Use of drugs during the first two
months of pregnancy
(Brazil=35 cases)
25
Yes=22
20
N° of 15
No=11
cases 10
5
NA=2
0
Use of drugs
Type of drugs during the first two
months of pregnancy
(Brazil=22 cases)
25
Misoprostol=20
20
N° of
15
cases 10
5 Aspirin=1 NA=1
0
Type of drugs
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”
Pre-school and school questionnaire
for the disorders of sleep
1. General data
2. Clinical history
3. Father information
4. Mother information
5. The child’s sleep
Objectives:
•Better understanding about the child’s
sleep
•To define the disorders of sleep
•To describe their features in order to find
the right programme of treatment
Studies ad hoc
1.Study on the sleep and disorders
about it
2.Capture-recapture study
Objectives:
To try to estimate the italian prevalence
of Moebius’ Syndrome using two
independent sources:
Italiana Association of
Moebius’ Syndrome
Centres of Clinical Genetics
Centres of Clinical Genetics Indicated DB NEWS
Dr. Luigi Memo
2 1 1
U.O.Patologia Neonatale (TV)
D.ssa Livia Garavelli
Divisione Pediatria, 1 1 0
Arcispedale S. Maria Nuova
(RE)
Prof. Orazio Gabrielli
1 1 0
Clinica Pediatrica Salesi (AN)
Dr. Giuseppe Zampino
Clinica Pediatrica, 2 1 1
Policlinico A. Gemelli (RM)
Dr. Gioacchino Scarano
Dip Materno-Infantile 4 1 3
Azienda Osp“G.Rummo”(BN)
Prof. Generoso Andria
Dipartimento di Pediatria 1 0 1
Università di Napoli FedericoII
TOTALE 11 5 6
Preliminary data!!!
Recapture from Centers of Clinical Genetics
known Unknown
0-14
0 2 5 11
Number Estimate of
of Residents prevalence
0-14 years cases X 100.000
(95% CI)
24
Northern Italy 3.080.121 0.8 (0.5-1.2)
(+1)
Central 9
1.453.456 0.7 (0.3-1.3)
Italy (+1)
Southern Italy 9 2.929.905 0.3 (0.1-0.6)
ESTIMATE OF PREVALENCE (95% CI)
1.40
1.20
1.00
Prevalence
0.80
0.81 0.69
0.60
0.40 0.34
0.20
0.00
Northern Italy Central Italy Southern Italy
0.77x100000 residents, 1/130000 residents. (in
Northern and Central Italy in the class of age between
0-14 years).
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
• If... life expectancy of people with Moebius’ Syndrome is the
same of general population, then the estimate of prevalence in
the general population will be the same of the population from
0 to 14 years…
445 cases (general italian population)
• If... the two hypotheses are valid in Europe too…
2884 cases (general european population)
Studies ad hoc
1.Study on the sleep and disorders
about it
2.Capture-recapture study
3.Research on quality of life of
affected people
Moebius’ Syndrome
and quality of life
•Questionnaire for children (0-12 years)
•Questionnaire for adolescentes (13-20 years)
•Questionnaire for adults (more than
20 years)
Moebius’ Syndrome
and quality of life
1. Personal data
2. Physical health status
3. Daily activities
4. Psicological aspect
5. Health service/welfare services
6. General Data
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
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