Moebius Syndrome International Database Updated May 10, 2004

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					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