Table 2.

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

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

^aThe original paper reported 0.73, which is possibly a misprint, as the sum of subtypes is 0.82

^bDiagnosed patients among defined cohorts

^cMPS III all subtypes but refers to the subtypes on different time horizons

DoB date-of-birth method, Dx diagnosis period method, MPS mucopolysaccharidosis