Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia
Background Long-term outcome in classic galactosemia is disappointing with impaired IQ, reduced bone mineral density, and fertility problems. Moreover, speech impairment is common with conflicting reports regarding frequency, pattern, and relation to IQ. Objective To evaluate speech and cognitive pe...
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| Veröffentlicht in: | Journal of inherited metabolic disease 2011-04, Vol.34 (2), p.421-427 |
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| container_title | Journal of inherited metabolic disease |
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| creator | Hoffmann, Björn Wendel, Udo Schweitzer-Krantz, Susanne |
| description | Background
Long-term outcome in classic galactosemia is disappointing with impaired IQ, reduced bone mineral density, and fertility problems. Moreover, speech impairment is common with conflicting reports regarding frequency, pattern, and relation to IQ.
Objective
To evaluate speech and cognitive performance in patients with galactosemia.
Methods
Speech performance was evaluated by means of the Hierarchische Wortlisten, a German word-repetition test for the diagnosis of apraxia of speech, using real words and pseudo-words. Cognitive performance was evaluated by use of age-appropriate German versions of the Wechsler Scales.
Results
In a cohort of 32 patients (12 females, 20 males; mean age 21.2 ± 7.2 years) with classic galactosemia, the mean IQ was 76.2 ± 14.8. Eighty-four percent of the patients passed the speech test with errors. Speech errors were much more related to pseudo-words than real words and were predominantly observed in words with three and four syllables. The performance in producing words was correlated to the IQ scores.
Conclusion
Impairment of speech affects a significant number of patients with galactosemia, appears in early childhood, and persists into adulthood. The pattern of speech impairment may allow labeling as apraxia of speech. In many cases impaired speech is related to decreased IQ. |
| doi_str_mv | 10.1007/s10545-011-9297-5 |
| format | Article |
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Long-term outcome in classic galactosemia is disappointing with impaired IQ, reduced bone mineral density, and fertility problems. Moreover, speech impairment is common with conflicting reports regarding frequency, pattern, and relation to IQ.
Objective
To evaluate speech and cognitive performance in patients with galactosemia.
Methods
Speech performance was evaluated by means of the Hierarchische Wortlisten, a German word-repetition test for the diagnosis of apraxia of speech, using real words and pseudo-words. Cognitive performance was evaluated by use of age-appropriate German versions of the Wechsler Scales.
Results
In a cohort of 32 patients (12 females, 20 males; mean age 21.2 ± 7.2 years) with classic galactosemia, the mean IQ was 76.2 ± 14.8. Eighty-four percent of the patients passed the speech test with errors. Speech errors were much more related to pseudo-words than real words and were predominantly observed in words with three and four syllables. The performance in producing words was correlated to the IQ scores.
Conclusion
Impairment of speech affects a significant number of patients with galactosemia, appears in early childhood, and persists into adulthood. The pattern of speech impairment may allow labeling as apraxia of speech. In many cases impaired speech is related to decreased IQ.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/s10545-011-9297-5</identifier><identifier>PMID: 21347587</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Adolescent ; Adult ; Age ; Biochemistry ; Bone mineral density ; Child ; Children ; Cognition Disorders - complications ; Cognition Disorders - diagnosis ; Cognitive ability ; Cohort Studies ; Cross-Sectional Studies ; Female ; Fertility ; Galactosemia ; Galactosemias - complications ; Galactosemias - diagnosis ; Germany ; Human Genetics ; Humans ; Intelligence ; Intelligence Tests ; Internal Medicine ; Male ; Medicine ; Medicine & Public Health ; Metabolic Diseases ; Pediatrics ; Phonetics ; Reproducibility of Results ; Speech ; Speech Disorders - complications ; Speech Disorders - diagnosis</subject><ispartof>Journal of inherited metabolic disease, 2011-04, Vol.34 (2), p.421-427</ispartof><rights>SSIEM and Springer 2011</rights><rights>2011 SSIEM</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5261-78a741d8f941a5fecf793e44dcebd50408064400d3cb47c3f0c4155dd6a8dd123</citedby><cites>FETCH-LOGICAL-c5261-78a741d8f941a5fecf793e44dcebd50408064400d3cb47c3f0c4155dd6a8dd123</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10545-011-9297-5$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10545-011-9297-5$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,1416,27922,27923,41486,42555,45572,45573,51317</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21347587$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hoffmann, Björn</creatorcontrib><creatorcontrib>Wendel, Udo</creatorcontrib><creatorcontrib>Schweitzer-Krantz, Susanne</creatorcontrib><title>Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><addtitle>J Inherit Metab Dis</addtitle><description>Background
Long-term outcome in classic galactosemia is disappointing with impaired IQ, reduced bone mineral density, and fertility problems. Moreover, speech impairment is common with conflicting reports regarding frequency, pattern, and relation to IQ.
Objective
To evaluate speech and cognitive performance in patients with galactosemia.
Methods
Speech performance was evaluated by means of the Hierarchische Wortlisten, a German word-repetition test for the diagnosis of apraxia of speech, using real words and pseudo-words. Cognitive performance was evaluated by use of age-appropriate German versions of the Wechsler Scales.
Results
In a cohort of 32 patients (12 females, 20 males; mean age 21.2 ± 7.2 years) with classic galactosemia, the mean IQ was 76.2 ± 14.8. Eighty-four percent of the patients passed the speech test with errors. Speech errors were much more related to pseudo-words than real words and were predominantly observed in words with three and four syllables. The performance in producing words was correlated to the IQ scores.
Conclusion
Impairment of speech affects a significant number of patients with galactosemia, appears in early childhood, and persists into adulthood. The pattern of speech impairment may allow labeling as apraxia of speech. In many cases impaired speech is related to decreased IQ.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Age</subject><subject>Biochemistry</subject><subject>Bone mineral density</subject><subject>Child</subject><subject>Children</subject><subject>Cognition Disorders - complications</subject><subject>Cognition Disorders - diagnosis</subject><subject>Cognitive ability</subject><subject>Cohort Studies</subject><subject>Cross-Sectional Studies</subject><subject>Female</subject><subject>Fertility</subject><subject>Galactosemia</subject><subject>Galactosemias - complications</subject><subject>Galactosemias - diagnosis</subject><subject>Germany</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Intelligence</subject><subject>Intelligence Tests</subject><subject>Internal Medicine</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metabolic Diseases</subject><subject>Pediatrics</subject><subject>Phonetics</subject><subject>Reproducibility of Results</subject><subject>Speech</subject><subject>Speech Disorders - complications</subject><subject>Speech Disorders - diagnosis</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqFkU1v1DAURS0EokPhB7BBFhu6Cbzn2LG9RAOFVq3YwDry2C9TV_kizlDNv8fTFJCQ2m5syTr3yLqXsdcI7xFAf0gISqoCEAsrrC7UE7ZCpctCVJV6ylaAEgtjlTpiL1K6BgBrlHrOjgSWUiujV4zW05BSkcjPcehdy10-9ikmPjQ8jUT-Kj8F7odtH-f4i_hIUzNMnes98djzUvDRzZH6OfGbOF9x37qUoudb1zo_D4m66F6yZ41rE726u4_Zj9PP39dfi4tvX87WHy8Kr0SFhTZOSwymsRKdasg32pYkZfC0CQokGKikBAil30jtywa8RKVCqJwJAUV5zN4t3nEafu4ozXUXk6e2dT0Nu1RbNCCFAf0oaXI7WlcImTx5kESwpVQWyoP07X_o9bCbcqG3PqGluPXhAvlD8xM19TjFzk37bKoPs9bLrHWetT7MWquceXMn3m06Cn8Tf3bMgF6Am9jS_nFjfX52-SlXgTkplmTKoX5L078_3_-f36mFvNc</recordid><startdate>201104</startdate><enddate>201104</enddate><creator>Hoffmann, Björn</creator><creator>Wendel, Udo</creator><creator>Schweitzer-Krantz, Susanne</creator><general>Springer Netherlands</general><general>Blackwell Publishing Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QP</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>201104</creationdate><title>Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia</title><author>Hoffmann, Björn ; Wendel, Udo ; Schweitzer-Krantz, Susanne</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5261-78a741d8f941a5fecf793e44dcebd50408064400d3cb47c3f0c4155dd6a8dd123</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Age</topic><topic>Biochemistry</topic><topic>Bone mineral density</topic><topic>Child</topic><topic>Children</topic><topic>Cognition Disorders - complications</topic><topic>Cognition Disorders - diagnosis</topic><topic>Cognitive ability</topic><topic>Cohort Studies</topic><topic>Cross-Sectional Studies</topic><topic>Female</topic><topic>Fertility</topic><topic>Galactosemia</topic><topic>Galactosemias - complications</topic><topic>Galactosemias - diagnosis</topic><topic>Germany</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Intelligence</topic><topic>Intelligence Tests</topic><topic>Internal Medicine</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Metabolic Diseases</topic><topic>Pediatrics</topic><topic>Phonetics</topic><topic>Reproducibility of Results</topic><topic>Speech</topic><topic>Speech Disorders - complications</topic><topic>Speech Disorders - diagnosis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hoffmann, Björn</creatorcontrib><creatorcontrib>Wendel, Udo</creatorcontrib><creatorcontrib>Schweitzer-Krantz, Susanne</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of inherited metabolic disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hoffmann, Björn</au><au>Wendel, Udo</au><au>Schweitzer-Krantz, Susanne</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia</atitle><jtitle>Journal of inherited metabolic disease</jtitle><stitle>J Inherit Metab Dis</stitle><addtitle>J Inherit Metab Dis</addtitle><date>2011-04</date><risdate>2011</risdate><volume>34</volume><issue>2</issue><spage>421</spage><epage>427</epage><pages>421-427</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><abstract>Background
Long-term outcome in classic galactosemia is disappointing with impaired IQ, reduced bone mineral density, and fertility problems. Moreover, speech impairment is common with conflicting reports regarding frequency, pattern, and relation to IQ.
Objective
To evaluate speech and cognitive performance in patients with galactosemia.
Methods
Speech performance was evaluated by means of the Hierarchische Wortlisten, a German word-repetition test for the diagnosis of apraxia of speech, using real words and pseudo-words. Cognitive performance was evaluated by use of age-appropriate German versions of the Wechsler Scales.
Results
In a cohort of 32 patients (12 females, 20 males; mean age 21.2 ± 7.2 years) with classic galactosemia, the mean IQ was 76.2 ± 14.8. Eighty-four percent of the patients passed the speech test with errors. Speech errors were much more related to pseudo-words than real words and were predominantly observed in words with three and four syllables. The performance in producing words was correlated to the IQ scores.
Conclusion
Impairment of speech affects a significant number of patients with galactosemia, appears in early childhood, and persists into adulthood. The pattern of speech impairment may allow labeling as apraxia of speech. In many cases impaired speech is related to decreased IQ.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>21347587</pmid><doi>10.1007/s10545-011-9297-5</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 0141-8955 |
| ispartof | Journal of inherited metabolic disease, 2011-04, Vol.34 (2), p.421-427 |
| issn | 0141-8955 1573-2665 |
| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; SpringerLink Journals - AutoHoldings |
| subjects | Adolescent Adult Age Biochemistry Bone mineral density Child Children Cognition Disorders - complications Cognition Disorders - diagnosis Cognitive ability Cohort Studies Cross-Sectional Studies Female Fertility Galactosemia Galactosemias - complications Galactosemias - diagnosis Germany Human Genetics Humans Intelligence Intelligence Tests Internal Medicine Male Medicine Medicine & Public Health Metabolic Diseases Pediatrics Phonetics Reproducibility of Results Speech Speech Disorders - complications Speech Disorders - diagnosis |
| title | Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia |
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