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Monogenic diabetes prevalence among Polish children—Summary of 11 years‐long nationwide genetic screening program
Background Estimated monogenic diabetes (MD) prevalence increases as screening programs proceeds. Objective To estimate prevalence of MD among Polish children. Subjects Patients and their family members suspected of suffering from MD (defined as causative mutation in one of the Maturity Onset Diabet...
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| Published in: | Pediatric diabetes 2018-02, Vol.19 (1), p.53-58 |
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| container_title | Pediatric diabetes |
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| creator | Małachowska, Beata Borowiec, Maciej Antosik, Karolina Michalak, Arkadiusz Baranowska‐Jaźwiecka, Anna Deja, Grażyna Jarosz‐Chobot, Przemysława Brandt, Agnieszka Myśliwiec, Małgorzata Stelmach, Małgorzata Nazim, Joanna Peczyńska, Jadwiga Głowińska‐Olszewska, Barbara Horodnicka‐Józwa, Anita Walczak, Mieczysław Małecki, Maciej T. Zmysłowska, Agnieszka Szadkowska, Agnieszka Fendler, Wojciech Młynarski, Wojciech |
| description | Background
Estimated monogenic diabetes (MD) prevalence increases as screening programs proceeds.
Objective
To estimate prevalence of MD among Polish children.
Subjects
Patients and their family members suspected of suffering from MD (defined as causative mutation in one of the Maturity Onset Diabetes of the Young or permanent neonatal diabetes mellitus genes) were recruited between January 2005 and December 2015.
Methods
Nationwide prevalence was estimated based on data from 6 administrative provinces (out of 16 in Poland) with high referral rates of patients (>10 per 100 000 children).
Results
During the analysis, probands from 322 of 788 screened families tested positive yielding a total of 409 children and 299 family members with MD. An average of 70 probands/year were referred. Screening success rate reached 40% over the study period. We estimated the prevalence of MD in 2015 to 7.52/100 000 children (1 in 13 000). The most frequent MODY in this group was
GCK‐
MODY (6.88/100 000). The prevalence estimates increased nearly 2‐fold since our report in 2011 (4.4/100 000). However, the figure reached a plateau because of screening saturation in 2014 what was also proven by lowering of the median age of diagnosis lowered in time (R = −0.73, P = .0172) along with shortening of the delay between clinical and genetic diagnosis (R = −0.65, P = .0417).
Conclusions
The screening for childhood MD in Poland reached a plateau phase after 10 years showing a stable prevalence estimate. The true frequency of MD in the overall population may be higher given later onset of reportedly more frequent types of MD than
GCK
‐MODY. |
| doi_str_mv | 10.1111/pedi.12532 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_proquest_miscellaneous_1891456784</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1891456784</sourcerecordid><originalsourceid>FETCH-LOGICAL-c2452-4a6de4328fc3b71c45279dfa5a45525e636eb9eef24a59c42010df6e07944c373</originalsourceid><addsrcrecordid>eNo9UblOw0AQXSEQCYGGD0AuaRy8l48ShQCRgogESHTWej1OFvli1yZKl5aOgi_Ml7BOQqaZ6-k9zTyELrE3xDZuakjVEBNOyRHqYxpFLmcsPD7U9L2Hzoz58DwcRJSdoh4JGfVt00fLp6qs5lAq6aRKJNCAcWoNXyKHUoIjiqqcO7MqV2bhyIXKUw3lZv370haF0CunyhyMN-vvFQhtNuufvIOXolFVuVQpOJYZGsttpAYrYpe1ruZaFOfoJBO5gYt9HqC3-_Hr6NGdPj9MRrdTVxLGicuEnwKjJMwkTQIs7SyI0kxwwTgnHHzqQxIBZIQJHklGPOylmQ9eEDEmaUAH6HrHa3U_WzBNXCgjIc9FCVVrYhxGmHE_sA8ZoKs9tE0KSONaq-7G-P9ZFoB3gKXKYXXYYy_ubIg7G-KtDfFsfDfZVvQPtVx_Qg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1891456784</pqid></control><display><type>article</type><title>Monogenic diabetes prevalence among Polish children—Summary of 11 years‐long nationwide genetic screening program</title><source>Wiley</source><creator>Małachowska, Beata ; Borowiec, Maciej ; Antosik, Karolina ; Michalak, Arkadiusz ; Baranowska‐Jaźwiecka, Anna ; Deja, Grażyna ; Jarosz‐Chobot, Przemysława ; Brandt, Agnieszka ; Myśliwiec, Małgorzata ; Stelmach, Małgorzata ; Nazim, Joanna ; Peczyńska, Jadwiga ; Głowińska‐Olszewska, Barbara ; Horodnicka‐Józwa, Anita ; Walczak, Mieczysław ; Małecki, Maciej T. ; Zmysłowska, Agnieszka ; Szadkowska, Agnieszka ; Fendler, Wojciech ; Młynarski, Wojciech</creator><creatorcontrib>Małachowska, Beata ; Borowiec, Maciej ; Antosik, Karolina ; Michalak, Arkadiusz ; Baranowska‐Jaźwiecka, Anna ; Deja, Grażyna ; Jarosz‐Chobot, Przemysława ; Brandt, Agnieszka ; Myśliwiec, Małgorzata ; Stelmach, Małgorzata ; Nazim, Joanna ; Peczyńska, Jadwiga ; Głowińska‐Olszewska, Barbara ; Horodnicka‐Józwa, Anita ; Walczak, Mieczysław ; Małecki, Maciej T. ; Zmysłowska, Agnieszka ; Szadkowska, Agnieszka ; Fendler, Wojciech ; Młynarski, Wojciech</creatorcontrib><description>Background
Estimated monogenic diabetes (MD) prevalence increases as screening programs proceeds.
Objective
To estimate prevalence of MD among Polish children.
Subjects
Patients and their family members suspected of suffering from MD (defined as causative mutation in one of the Maturity Onset Diabetes of the Young or permanent neonatal diabetes mellitus genes) were recruited between January 2005 and December 2015.
Methods
Nationwide prevalence was estimated based on data from 6 administrative provinces (out of 16 in Poland) with high referral rates of patients (>10 per 100 000 children).
Results
During the analysis, probands from 322 of 788 screened families tested positive yielding a total of 409 children and 299 family members with MD. An average of 70 probands/year were referred. Screening success rate reached 40% over the study period. We estimated the prevalence of MD in 2015 to 7.52/100 000 children (1 in 13 000). The most frequent MODY in this group was
GCK‐
MODY (6.88/100 000). The prevalence estimates increased nearly 2‐fold since our report in 2011 (4.4/100 000). However, the figure reached a plateau because of screening saturation in 2014 what was also proven by lowering of the median age of diagnosis lowered in time (R = −0.73, P = .0172) along with shortening of the delay between clinical and genetic diagnosis (R = −0.65, P = .0417).
Conclusions
The screening for childhood MD in Poland reached a plateau phase after 10 years showing a stable prevalence estimate. The true frequency of MD in the overall population may be higher given later onset of reportedly more frequent types of MD than
GCK
‐MODY.</description><identifier>ISSN: 1399-543X</identifier><identifier>EISSN: 1399-5448</identifier><identifier>DOI: 10.1111/pedi.12532</identifier><identifier>PMID: 28436179</identifier><language>eng</language><publisher>Former Munksgaard: John Wiley & Sons A/S</publisher><subject>genetic epidemiology ; genetic screening ; MODY ; monogenic diabetes ; pediatric diabetology</subject><ispartof>Pediatric diabetes, 2018-02, Vol.19 (1), p.53-58</ispartof><rights>2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd</rights><rights>2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c2452-4a6de4328fc3b71c45279dfa5a45525e636eb9eef24a59c42010df6e07944c373</citedby><orcidid>0000-0002-5083-9168</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fpedi.12532$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fpedi.12532$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,786,790,27957,27958,50923,51032</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28436179$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Małachowska, Beata</creatorcontrib><creatorcontrib>Borowiec, Maciej</creatorcontrib><creatorcontrib>Antosik, Karolina</creatorcontrib><creatorcontrib>Michalak, Arkadiusz</creatorcontrib><creatorcontrib>Baranowska‐Jaźwiecka, Anna</creatorcontrib><creatorcontrib>Deja, Grażyna</creatorcontrib><creatorcontrib>Jarosz‐Chobot, Przemysława</creatorcontrib><creatorcontrib>Brandt, Agnieszka</creatorcontrib><creatorcontrib>Myśliwiec, Małgorzata</creatorcontrib><creatorcontrib>Stelmach, Małgorzata</creatorcontrib><creatorcontrib>Nazim, Joanna</creatorcontrib><creatorcontrib>Peczyńska, Jadwiga</creatorcontrib><creatorcontrib>Głowińska‐Olszewska, Barbara</creatorcontrib><creatorcontrib>Horodnicka‐Józwa, Anita</creatorcontrib><creatorcontrib>Walczak, Mieczysław</creatorcontrib><creatorcontrib>Małecki, Maciej T.</creatorcontrib><creatorcontrib>Zmysłowska, Agnieszka</creatorcontrib><creatorcontrib>Szadkowska, Agnieszka</creatorcontrib><creatorcontrib>Fendler, Wojciech</creatorcontrib><creatorcontrib>Młynarski, Wojciech</creatorcontrib><title>Monogenic diabetes prevalence among Polish children—Summary of 11 years‐long nationwide genetic screening program</title><title>Pediatric diabetes</title><addtitle>Pediatr Diabetes</addtitle><description>Background
Estimated monogenic diabetes (MD) prevalence increases as screening programs proceeds.
Objective
To estimate prevalence of MD among Polish children.
Subjects
Patients and their family members suspected of suffering from MD (defined as causative mutation in one of the Maturity Onset Diabetes of the Young or permanent neonatal diabetes mellitus genes) were recruited between January 2005 and December 2015.
Methods
Nationwide prevalence was estimated based on data from 6 administrative provinces (out of 16 in Poland) with high referral rates of patients (>10 per 100 000 children).
Results
During the analysis, probands from 322 of 788 screened families tested positive yielding a total of 409 children and 299 family members with MD. An average of 70 probands/year were referred. Screening success rate reached 40% over the study period. We estimated the prevalence of MD in 2015 to 7.52/100 000 children (1 in 13 000). The most frequent MODY in this group was
GCK‐
MODY (6.88/100 000). The prevalence estimates increased nearly 2‐fold since our report in 2011 (4.4/100 000). However, the figure reached a plateau because of screening saturation in 2014 what was also proven by lowering of the median age of diagnosis lowered in time (R = −0.73, P = .0172) along with shortening of the delay between clinical and genetic diagnosis (R = −0.65, P = .0417).
Conclusions
The screening for childhood MD in Poland reached a plateau phase after 10 years showing a stable prevalence estimate. The true frequency of MD in the overall population may be higher given later onset of reportedly more frequent types of MD than
GCK
‐MODY.</description><subject>genetic epidemiology</subject><subject>genetic screening</subject><subject>MODY</subject><subject>monogenic diabetes</subject><subject>pediatric diabetology</subject><issn>1399-543X</issn><issn>1399-5448</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><recordid>eNo9UblOw0AQXSEQCYGGD0AuaRy8l48ShQCRgogESHTWej1OFvli1yZKl5aOgi_Ml7BOQqaZ6-k9zTyELrE3xDZuakjVEBNOyRHqYxpFLmcsPD7U9L2Hzoz58DwcRJSdoh4JGfVt00fLp6qs5lAq6aRKJNCAcWoNXyKHUoIjiqqcO7MqV2bhyIXKUw3lZv370haF0CunyhyMN-vvFQhtNuufvIOXolFVuVQpOJYZGsttpAYrYpe1ruZaFOfoJBO5gYt9HqC3-_Hr6NGdPj9MRrdTVxLGicuEnwKjJMwkTQIs7SyI0kxwwTgnHHzqQxIBZIQJHklGPOylmQ9eEDEmaUAH6HrHa3U_WzBNXCgjIc9FCVVrYhxGmHE_sA8ZoKs9tE0KSONaq-7G-P9ZFoB3gKXKYXXYYy_ubIg7G-KtDfFsfDfZVvQPtVx_Qg</recordid><startdate>201802</startdate><enddate>201802</enddate><creator>Małachowska, Beata</creator><creator>Borowiec, Maciej</creator><creator>Antosik, Karolina</creator><creator>Michalak, Arkadiusz</creator><creator>Baranowska‐Jaźwiecka, Anna</creator><creator>Deja, Grażyna</creator><creator>Jarosz‐Chobot, Przemysława</creator><creator>Brandt, Agnieszka</creator><creator>Myśliwiec, Małgorzata</creator><creator>Stelmach, Małgorzata</creator><creator>Nazim, Joanna</creator><creator>Peczyńska, Jadwiga</creator><creator>Głowińska‐Olszewska, Barbara</creator><creator>Horodnicka‐Józwa, Anita</creator><creator>Walczak, Mieczysław</creator><creator>Małecki, Maciej T.</creator><creator>Zmysłowska, Agnieszka</creator><creator>Szadkowska, Agnieszka</creator><creator>Fendler, Wojciech</creator><creator>Młynarski, Wojciech</creator><general>John Wiley & Sons A/S</general><scope>NPM</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-5083-9168</orcidid></search><sort><creationdate>201802</creationdate><title>Monogenic diabetes prevalence among Polish children—Summary of 11 years‐long nationwide genetic screening program</title><author>Małachowska, Beata ; Borowiec, Maciej ; Antosik, Karolina ; Michalak, Arkadiusz ; Baranowska‐Jaźwiecka, Anna ; Deja, Grażyna ; Jarosz‐Chobot, Przemysława ; Brandt, Agnieszka ; Myśliwiec, Małgorzata ; Stelmach, Małgorzata ; Nazim, Joanna ; Peczyńska, Jadwiga ; Głowińska‐Olszewska, Barbara ; Horodnicka‐Józwa, Anita ; Walczak, Mieczysław ; Małecki, Maciej T. ; Zmysłowska, Agnieszka ; Szadkowska, Agnieszka ; Fendler, Wojciech ; Młynarski, Wojciech</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2452-4a6de4328fc3b71c45279dfa5a45525e636eb9eef24a59c42010df6e07944c373</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>genetic epidemiology</topic><topic>genetic screening</topic><topic>MODY</topic><topic>monogenic diabetes</topic><topic>pediatric diabetology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Małachowska, Beata</creatorcontrib><creatorcontrib>Borowiec, Maciej</creatorcontrib><creatorcontrib>Antosik, Karolina</creatorcontrib><creatorcontrib>Michalak, Arkadiusz</creatorcontrib><creatorcontrib>Baranowska‐Jaźwiecka, Anna</creatorcontrib><creatorcontrib>Deja, Grażyna</creatorcontrib><creatorcontrib>Jarosz‐Chobot, Przemysława</creatorcontrib><creatorcontrib>Brandt, Agnieszka</creatorcontrib><creatorcontrib>Myśliwiec, Małgorzata</creatorcontrib><creatorcontrib>Stelmach, Małgorzata</creatorcontrib><creatorcontrib>Nazim, Joanna</creatorcontrib><creatorcontrib>Peczyńska, Jadwiga</creatorcontrib><creatorcontrib>Głowińska‐Olszewska, Barbara</creatorcontrib><creatorcontrib>Horodnicka‐Józwa, Anita</creatorcontrib><creatorcontrib>Walczak, Mieczysław</creatorcontrib><creatorcontrib>Małecki, Maciej T.</creatorcontrib><creatorcontrib>Zmysłowska, Agnieszka</creatorcontrib><creatorcontrib>Szadkowska, Agnieszka</creatorcontrib><creatorcontrib>Fendler, Wojciech</creatorcontrib><creatorcontrib>Młynarski, Wojciech</creatorcontrib><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatric diabetes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Małachowska, Beata</au><au>Borowiec, Maciej</au><au>Antosik, Karolina</au><au>Michalak, Arkadiusz</au><au>Baranowska‐Jaźwiecka, Anna</au><au>Deja, Grażyna</au><au>Jarosz‐Chobot, Przemysława</au><au>Brandt, Agnieszka</au><au>Myśliwiec, Małgorzata</au><au>Stelmach, Małgorzata</au><au>Nazim, Joanna</au><au>Peczyńska, Jadwiga</au><au>Głowińska‐Olszewska, Barbara</au><au>Horodnicka‐Józwa, Anita</au><au>Walczak, Mieczysław</au><au>Małecki, Maciej T.</au><au>Zmysłowska, Agnieszka</au><au>Szadkowska, Agnieszka</au><au>Fendler, Wojciech</au><au>Młynarski, Wojciech</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Monogenic diabetes prevalence among Polish children—Summary of 11 years‐long nationwide genetic screening program</atitle><jtitle>Pediatric diabetes</jtitle><addtitle>Pediatr Diabetes</addtitle><date>2018-02</date><risdate>2018</risdate><volume>19</volume><issue>1</issue><spage>53</spage><epage>58</epage><pages>53-58</pages><issn>1399-543X</issn><eissn>1399-5448</eissn><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><abstract>Background
Estimated monogenic diabetes (MD) prevalence increases as screening programs proceeds.
Objective
To estimate prevalence of MD among Polish children.
Subjects
Patients and their family members suspected of suffering from MD (defined as causative mutation in one of the Maturity Onset Diabetes of the Young or permanent neonatal diabetes mellitus genes) were recruited between January 2005 and December 2015.
Methods
Nationwide prevalence was estimated based on data from 6 administrative provinces (out of 16 in Poland) with high referral rates of patients (>10 per 100 000 children).
Results
During the analysis, probands from 322 of 788 screened families tested positive yielding a total of 409 children and 299 family members with MD. An average of 70 probands/year were referred. Screening success rate reached 40% over the study period. We estimated the prevalence of MD in 2015 to 7.52/100 000 children (1 in 13 000). The most frequent MODY in this group was
GCK‐
MODY (6.88/100 000). The prevalence estimates increased nearly 2‐fold since our report in 2011 (4.4/100 000). However, the figure reached a plateau because of screening saturation in 2014 what was also proven by lowering of the median age of diagnosis lowered in time (R = −0.73, P = .0172) along with shortening of the delay between clinical and genetic diagnosis (R = −0.65, P = .0417).
Conclusions
The screening for childhood MD in Poland reached a plateau phase after 10 years showing a stable prevalence estimate. The true frequency of MD in the overall population may be higher given later onset of reportedly more frequent types of MD than
GCK
‐MODY.</abstract><cop>Former Munksgaard</cop><pub>John Wiley & Sons A/S</pub><pmid>28436179</pmid><doi>10.1111/pedi.12532</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0002-5083-9168</orcidid><oa>free_for_read</oa></addata></record> |
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| ispartof | Pediatric diabetes, 2018-02, Vol.19 (1), p.53-58 |
| issn | 1399-543X 1399-5448 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1891456784 |
| source | Wiley |
| subjects | genetic epidemiology genetic screening MODY monogenic diabetes pediatric diabetology |
| title | Monogenic diabetes prevalence among Polish children—Summary of 11 years‐long nationwide genetic screening program |
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