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Table 2 Reported lifetime risk at birth estimates of Sanfilippo syndrome (all subtypes)

From: Epidemiology of Sanfilippo syndrome: results of a systematic literature review

First author, year

Country

Reporting quality of the paper

Study period

Representative of whole country?

Enzyme or mutational diagnosis?

Prenatal diagnosis included?

Evidence of ethnicity founder effect?

Sanfilippo all subtypes (sum of specific types)

Number of patients

Patients per 100,000 live births

Estimation method

Al-Maawali, 2012 [15]

Oman

Poor

1998–2007

No

Yes

No

No

All MPS III: 7

1.72

Dx

Angelis, 2015 [16]

Europe

Review

No data

Not applicable

Not applicable

1.42 (range, 0.36–2.00)

Dx

Baehner, 2005 [17]

Germany

Good

1980–1995

Yes

Yes

No

Yes (Turkish)

All MPS III: 211

1.57

Dx

Ben Turkia, 2009 [14]

Tunisia

Poor

1988–2005

Yes

Yes

No

No

All MPS III: 24

0.70

Dx

Gómez, 2012 [18]

Colombia

1998–2007

No

No data

No data

No data

0.17

Dx

Héron, 2011 [19]

France

Medium

1990–2006

Yes

Yes

No

No

All MPS III: 128

0.82a

Dx

Héron, 2011 [19]

Greece

Medium

1990–2006

Yes

Yes

No

No

All MPS III: 20 (including 1 unclassified)

0.97

Dx

Héron, 2011 [19]

Great Britain

Medium

1990–2006

Yes

Yes

No

No

All MPS III: 126 (including 6 unclassified)

1.21

Dx

Hult, 2014 [20]

Sweden

Medium

1990–2009

Yes

Yes

No

No

All MPS III: 21

1.01

Dx

Joshi, 2002 [21]

Oman

Poor

1998–2000

No

Yes

No

No

All MPS III: 3

2.35

Dx

Jurecka, 2015 [22]

Poland

Good

1970–2010

Yes

Yes

No data

No

All MPS III: 186

0.86

Dx

Lin, 2009 [23]

Taiwan

Good

1984–2004

Yes

Yes

No

No

All MPS III: 25

0.39

Dx

Malm, 2008 [12]

Norway

Medium

1979–2007

Yes

Yes

No data

No

All MPS III: 4

0.27

Real lifetime riskb

Malm, 2008 [12]

Denmark

Medium

1975–2007

Yes

Yes

No data

No

All MPS III: 8

0.43

Real lifetime riskb

Malm, 2008 [12]

Sweden

Medium

1975–2007

Yes

Yes

No data

No

All MPS III: 20

0.67

Real lifetime riskb

Moammar, 2010 [24]

Saudi Arabia

Poor

1983–2008

Yes

Yes

No

No

All MPS III: 3

2.00

Dx

Nelson, 1997 [25]

Great Britain

Poor

1958–1985

No

Yes

No

No

All MPS III: 3

0.36

Dx

Nelson, 2003 [26]

Australia

Poor

1969–1996

Yes

Yes

Yes

No

All MPS III: 11

1.71

Dx

Pinto, 2004 [27]

Portugal

Poor

1982–2001

No (Northern Portugal)

Yes

Yes

No

All MPS III: 14

0.84c

DoB

Poorthuis, 1999 [28]

The Netherlands

Poor

1970–1996

Yes

Yes

Yes

No

All MPS III: 156 (diagnosed between 1970 and 1996)

1.89c

DoB

Poupetová, 2010 [13]

Czech Republic

Medium

1975–2008

Yes

Yes

Yes

No

All MPS III: 24 (diagnosed between 1975 and 2008)

0.91c

DoB

  1. aThe original paper reported 0.73, which is possibly a misprint, as the sum of subtypes is 0.82
  2. bDiagnosed patients among defined cohorts
  3. cMPS III all subtypes but refers to the subtypes on different time horizons
  4. DoB date-of-birth method, Dx diagnosis period method, MPS mucopolysaccharidosis