Intellectual and neurological functioning in Morquio syndrome (MPS IVa)
Mucopolysaccharidosis type IVa (MPS IVa, Morquio syndrome OMIM #253000) is a lysosomal storage disease caused by deficiency in N-acetylgalactosamine-6-sulfatase (GALNS, EC 3.1.6.4; encoded by GALNS gene at 16q24.3). Unlike other MPS disorders involving excessive heparan and dermatan sulfate, Morquio...
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| Veröffentlicht in: | Journal of inherited metabolic disease 2013-03, Vol.36 (2), p.323-328 |
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| creator | Davison, J. E. Kearney, S. Horton, J. Foster, K. Peet, A. C. Hendriksz, C. J. |
| description | Mucopolysaccharidosis type IVa (MPS IVa, Morquio syndrome OMIM #253000) is a lysosomal storage disease caused by deficiency in N-acetylgalactosamine-6-sulfatase (GALNS, EC 3.1.6.4; encoded by
GALNS
gene at 16q24.3). Unlike other MPS disorders involving excessive heparan and dermatan sulfate, Morquio syndrome has not been associated with neurological involvement nor with intellectual impairment as this disorder of keratan sulfate has been described as a purely visceral and skeletal disorder. Neurocognitive assessment was undertaken of MPS IVa patients with age appropriate intellectual tests as well as a Child Behaviour Checklist as part of clinical follow up. Available neuroimaging studies (MRI and MR spectroscopy) were reviewed. Whilst more than half of the overall IQ scores fell in the average range, scores for 3/8 children fell below average. A number of behavioural problems were highlighted, including anxiety/depression, attention and somatic complaints. Subtle neuroimaging abnormalities were demonstrated in over half of the children. These findings present a challenge to existing assumptions about the nature of Morquio A syndrome. A hypothesis regarding the potential role of calcium signalling is explored. |
| doi_str_mv | 10.1007/s10545-011-9430-5 |
| format | Article |
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GALNS
gene at 16q24.3). Unlike other MPS disorders involving excessive heparan and dermatan sulfate, Morquio syndrome has not been associated with neurological involvement nor with intellectual impairment as this disorder of keratan sulfate has been described as a purely visceral and skeletal disorder. Neurocognitive assessment was undertaken of MPS IVa patients with age appropriate intellectual tests as well as a Child Behaviour Checklist as part of clinical follow up. Available neuroimaging studies (MRI and MR spectroscopy) were reviewed. Whilst more than half of the overall IQ scores fell in the average range, scores for 3/8 children fell below average. A number of behavioural problems were highlighted, including anxiety/depression, attention and somatic complaints. Subtle neuroimaging abnormalities were demonstrated in over half of the children. These findings present a challenge to existing assumptions about the nature of Morquio A syndrome. A hypothesis regarding the potential role of calcium signalling is explored.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/s10545-011-9430-5</identifier><identifier>PMID: 22231379</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Adolescent ; Anxiety - diagnosis ; Anxiety - etiology ; Anxiety - physiopathology ; Behavior ; Biochemistry ; Child ; Child, Preschool ; Depression - diagnosis ; Depression - etiology ; Depression - physiopathology ; Female ; Human Genetics ; Humans ; Intellectual Disability - diagnosis ; Intellectual Disability - etiology ; Intellectual Disability - physiopathology ; Internal Medicine ; Male ; Medicine ; Medicine & Public Health ; Metabolic Diseases ; Mucopolysaccharidosis IV - complications ; Mucopolysaccharidosis IV - diagnosis ; Mucopolysaccharidosis IV - physiopathology ; Mucopolysaccharidosis IV - psychology ; Nervous System Diseases - diagnosis ; Nervous System Diseases - etiology ; Nervous System Diseases - physiopathology ; Neuroimaging - methods ; Original Article ; Pediatrics</subject><ispartof>Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.323-328</ispartof><rights>SSIEM and Springer 2011</rights><rights>2013 SSIEM</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4253-200edaf80d7ce2c35f4fe01f76f4b41c8c695f5a0439d572d254a914b7437dd63</citedby><cites>FETCH-LOGICAL-c4253-200edaf80d7ce2c35f4fe01f76f4b41c8c695f5a0439d572d254a914b7437dd63</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/s10545-011-9430-5$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10545-011-9430-5$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,1416,27923,27924,41487,42556,45573,45574,51318</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22231379$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Davison, J. E.</creatorcontrib><creatorcontrib>Kearney, S.</creatorcontrib><creatorcontrib>Horton, J.</creatorcontrib><creatorcontrib>Foster, K.</creatorcontrib><creatorcontrib>Peet, A. C.</creatorcontrib><creatorcontrib>Hendriksz, C. J.</creatorcontrib><title>Intellectual and neurological functioning in Morquio syndrome (MPS IVa)</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><addtitle>J Inherit Metab Dis</addtitle><description>Mucopolysaccharidosis type IVa (MPS IVa, Morquio syndrome OMIM #253000) is a lysosomal storage disease caused by deficiency in N-acetylgalactosamine-6-sulfatase (GALNS, EC 3.1.6.4; encoded by
GALNS
gene at 16q24.3). Unlike other MPS disorders involving excessive heparan and dermatan sulfate, Morquio syndrome has not been associated with neurological involvement nor with intellectual impairment as this disorder of keratan sulfate has been described as a purely visceral and skeletal disorder. Neurocognitive assessment was undertaken of MPS IVa patients with age appropriate intellectual tests as well as a Child Behaviour Checklist as part of clinical follow up. Available neuroimaging studies (MRI and MR spectroscopy) were reviewed. Whilst more than half of the overall IQ scores fell in the average range, scores for 3/8 children fell below average. A number of behavioural problems were highlighted, including anxiety/depression, attention and somatic complaints. Subtle neuroimaging abnormalities were demonstrated in over half of the children. These findings present a challenge to existing assumptions about the nature of Morquio A syndrome. A hypothesis regarding the potential role of calcium signalling is explored.</description><subject>Adolescent</subject><subject>Anxiety - diagnosis</subject><subject>Anxiety - etiology</subject><subject>Anxiety - physiopathology</subject><subject>Behavior</subject><subject>Biochemistry</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Depression - diagnosis</subject><subject>Depression - etiology</subject><subject>Depression - physiopathology</subject><subject>Female</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Intellectual Disability - diagnosis</subject><subject>Intellectual Disability - etiology</subject><subject>Intellectual Disability - physiopathology</subject><subject>Internal Medicine</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metabolic Diseases</subject><subject>Mucopolysaccharidosis IV - complications</subject><subject>Mucopolysaccharidosis IV - diagnosis</subject><subject>Mucopolysaccharidosis IV - physiopathology</subject><subject>Mucopolysaccharidosis IV - psychology</subject><subject>Nervous System Diseases - diagnosis</subject><subject>Nervous System Diseases - etiology</subject><subject>Nervous System Diseases - physiopathology</subject><subject>Neuroimaging - methods</subject><subject>Original Article</subject><subject>Pediatrics</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtPGzEUha0K1ATaH9BNNct0MfT6cceZJYISUhFRqY-t5fgRTTSxg50Ryr_HaChLWFmyznd07kfIFwoXFEB-zxRQYA2U1q3gUOMHMqUoec2aBk_IFKig9bxFnJCznLcA0M4RP5IJY4xTLtspWSzDwfW9M4dB95UOtgpuSLGPm86UDz8Ec-hi6MKm6kK1iulh6GKVj8GmuHPVbPXrd7X8p799Iqde99l9fnnPyd-bH3-ubuu7-8Xy6vKuNoJhGQbgrPZzsNI4Zjh64R1QLxsv1oKauWla9KhB8NaiZJah0C0Vaym4tLbh52Q29u5TfBhcPqhdl025QAcXh6zKxS1vJHJ4P8opNrwsoiVKx6hJMefkvNqnbqfTUVFQz6rVqFoV1epZtcLCfH2pH9Y7Z1-J_25LQI6Bx653x_cb1c_l6ho444VkI5kLFDYuqW0cUihe39jzBJell7s</recordid><startdate>201303</startdate><enddate>201303</enddate><creator>Davison, J. E.</creator><creator>Kearney, S.</creator><creator>Horton, J.</creator><creator>Foster, K.</creator><creator>Peet, A. C.</creator><creator>Hendriksz, C. J.</creator><general>Springer Netherlands</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>7X8</scope><scope>7TK</scope></search><sort><creationdate>201303</creationdate><title>Intellectual and neurological functioning in Morquio syndrome (MPS IVa)</title><author>Davison, J. E. ; Kearney, S. ; Horton, J. ; Foster, K. ; Peet, A. C. ; Hendriksz, C. J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4253-200edaf80d7ce2c35f4fe01f76f4b41c8c695f5a0439d572d254a914b7437dd63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adolescent</topic><topic>Anxiety - diagnosis</topic><topic>Anxiety - etiology</topic><topic>Anxiety - physiopathology</topic><topic>Behavior</topic><topic>Biochemistry</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Depression - diagnosis</topic><topic>Depression - etiology</topic><topic>Depression - physiopathology</topic><topic>Female</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Intellectual Disability - diagnosis</topic><topic>Intellectual Disability - etiology</topic><topic>Intellectual Disability - physiopathology</topic><topic>Internal Medicine</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Metabolic Diseases</topic><topic>Mucopolysaccharidosis IV - complications</topic><topic>Mucopolysaccharidosis IV - diagnosis</topic><topic>Mucopolysaccharidosis IV - physiopathology</topic><topic>Mucopolysaccharidosis IV - psychology</topic><topic>Nervous System Diseases - diagnosis</topic><topic>Nervous System Diseases - etiology</topic><topic>Nervous System Diseases - physiopathology</topic><topic>Neuroimaging - methods</topic><topic>Original Article</topic><topic>Pediatrics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Davison, J. E.</creatorcontrib><creatorcontrib>Kearney, S.</creatorcontrib><creatorcontrib>Horton, J.</creatorcontrib><creatorcontrib>Foster, K.</creatorcontrib><creatorcontrib>Peet, A. C.</creatorcontrib><creatorcontrib>Hendriksz, C. J.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Neurosciences Abstracts</collection><jtitle>Journal of inherited metabolic disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Davison, J. E.</au><au>Kearney, S.</au><au>Horton, J.</au><au>Foster, K.</au><au>Peet, A. C.</au><au>Hendriksz, C. J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Intellectual and neurological functioning in Morquio syndrome (MPS IVa)</atitle><jtitle>Journal of inherited metabolic disease</jtitle><stitle>J Inherit Metab Dis</stitle><addtitle>J Inherit Metab Dis</addtitle><date>2013-03</date><risdate>2013</risdate><volume>36</volume><issue>2</issue><spage>323</spage><epage>328</epage><pages>323-328</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><abstract>Mucopolysaccharidosis type IVa (MPS IVa, Morquio syndrome OMIM #253000) is a lysosomal storage disease caused by deficiency in N-acetylgalactosamine-6-sulfatase (GALNS, EC 3.1.6.4; encoded by
GALNS
gene at 16q24.3). Unlike other MPS disorders involving excessive heparan and dermatan sulfate, Morquio syndrome has not been associated with neurological involvement nor with intellectual impairment as this disorder of keratan sulfate has been described as a purely visceral and skeletal disorder. Neurocognitive assessment was undertaken of MPS IVa patients with age appropriate intellectual tests as well as a Child Behaviour Checklist as part of clinical follow up. Available neuroimaging studies (MRI and MR spectroscopy) were reviewed. Whilst more than half of the overall IQ scores fell in the average range, scores for 3/8 children fell below average. A number of behavioural problems were highlighted, including anxiety/depression, attention and somatic complaints. Subtle neuroimaging abnormalities were demonstrated in over half of the children. These findings present a challenge to existing assumptions about the nature of Morquio A syndrome. A hypothesis regarding the potential role of calcium signalling is explored.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>22231379</pmid><doi>10.1007/s10545-011-9430-5</doi><tpages>6</tpages></addata></record> |
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| subjects | Adolescent Anxiety - diagnosis Anxiety - etiology Anxiety - physiopathology Behavior Biochemistry Child Child, Preschool Depression - diagnosis Depression - etiology Depression - physiopathology Female Human Genetics Humans Intellectual Disability - diagnosis Intellectual Disability - etiology Intellectual Disability - physiopathology Internal Medicine Male Medicine Medicine & Public Health Metabolic Diseases Mucopolysaccharidosis IV - complications Mucopolysaccharidosis IV - diagnosis Mucopolysaccharidosis IV - physiopathology Mucopolysaccharidosis IV - psychology Nervous System Diseases - diagnosis Nervous System Diseases - etiology Nervous System Diseases - physiopathology Neuroimaging - methods Original Article Pediatrics |
| title | Intellectual and neurological functioning in Morquio syndrome (MPS IVa) |
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