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Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects
Autism has been reported in untreated patients with phenylketonuria. The authors aimed to explore autism in 15 Tunisian and 4 Algerian phenylketonuria patients, and report their clinical, biochemical and molecular peculiarities. The Childhood Autism Rating Scale and the Autism Diagnostic Interview–R...
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| Published in: | Journal of child neurology 2016-06, Vol.31 (7), p.843-849 |
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| container_end_page | 849 |
| container_issue | 7 |
| container_start_page | 843 |
| container_title | Journal of child neurology |
| container_volume | 31 |
| creator | Khemir, Sameh Halayem, Soumeyya Azzouz, Hatem Siala, Hajer Ferchichi, Maherzia Guedria, Asma Bedoui, Amel Abdelhak, Sonia Messaoud, Taieb Tebib, Neji Belhaj, Ahlem Kaabachi, Naziha |
| description | Autism has been reported in untreated patients with phenylketonuria. The authors aimed to explore autism in 15 Tunisian and 4 Algerian phenylketonuria patients, and report their clinical, biochemical and molecular peculiarities. The Childhood Autism Rating Scale and the Autism Diagnostic Interview–Revised were used for the diagnosis of autism. Five exons of phenylalanine hydroxylase gene (7, 6, 10, 11, and 5) were amplified by polymerase chain reaction and directly sequenced. Among these patients, 15 were suffering from autism at the time of evaluation. Six mutations were identified: p.E280K, p.G352Vfs, IVS10nt11, p.I224T, p.R261Q, and p.R252W. There was no correlation between autism and mutations affecting the phenylalanine hydroxylase gene, but the age of diet onset was the determining factor in autistic symptoms’ evolution. |
| doi_str_mv | 10.1177/0883073815623636 |
| format | article |
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The authors aimed to explore autism in 15 Tunisian and 4 Algerian phenylketonuria patients, and report their clinical, biochemical and molecular peculiarities. The Childhood Autism Rating Scale and the Autism Diagnostic Interview–Revised were used for the diagnosis of autism. Five exons of phenylalanine hydroxylase gene (7, 6, 10, 11, and 5) were amplified by polymerase chain reaction and directly sequenced. Among these patients, 15 were suffering from autism at the time of evaluation. Six mutations were identified: p.E280K, p.G352Vfs, IVS10nt11, p.I224T, p.R261Q, and p.R252W. There was no correlation between autism and mutations affecting the phenylalanine hydroxylase gene, but the age of diet onset was the determining factor in autistic symptoms’ evolution.</description><identifier>ISSN: 0883-0738</identifier><identifier>EISSN: 1708-8283</identifier><identifier>DOI: 10.1177/0883073815623636</identifier><identifier>PMID: 26759449</identifier><language>eng</language><publisher>Los Angeles, CA: SAGE Publications</publisher><subject>Adolescent ; Age Factors ; Algeria ; Autistic Disorder - complications ; Autistic Disorder - genetics ; Autistic Disorder - metabolism ; Child ; Child, Preschool ; Exons ; Family ; Female ; Gene Frequency ; Humans ; Life Sciences ; Male ; Mutation ; Phenylalanine Hydroxylase - genetics ; Phenylketonurias - complications ; Phenylketonurias - diet therapy ; Phenylketonurias - genetics ; Phenylketonurias - metabolism ; Prognosis ; Psychiatric Status Rating Scales ; Tunisia</subject><ispartof>Journal of child neurology, 2016-06, Vol.31 (7), p.843-849</ispartof><rights>The Author(s) 2016</rights><rights>The Author(s) 2016.</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c361t-dcb092c05ea583091e42446429f739543725bea3950e5aee2ffcaec69c666cde3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,27924,27925,79364</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26759449$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://riip.hal.science/pasteur-01469443$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Khemir, Sameh</creatorcontrib><creatorcontrib>Halayem, Soumeyya</creatorcontrib><creatorcontrib>Azzouz, Hatem</creatorcontrib><creatorcontrib>Siala, Hajer</creatorcontrib><creatorcontrib>Ferchichi, Maherzia</creatorcontrib><creatorcontrib>Guedria, Asma</creatorcontrib><creatorcontrib>Bedoui, Amel</creatorcontrib><creatorcontrib>Abdelhak, Sonia</creatorcontrib><creatorcontrib>Messaoud, Taieb</creatorcontrib><creatorcontrib>Tebib, Neji</creatorcontrib><creatorcontrib>Belhaj, Ahlem</creatorcontrib><creatorcontrib>Kaabachi, Naziha</creatorcontrib><title>Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects</title><title>Journal of child neurology</title><addtitle>J Child Neurol</addtitle><description>Autism has been reported in untreated patients with phenylketonuria. The authors aimed to explore autism in 15 Tunisian and 4 Algerian phenylketonuria patients, and report their clinical, biochemical and molecular peculiarities. The Childhood Autism Rating Scale and the Autism Diagnostic Interview–Revised were used for the diagnosis of autism. Five exons of phenylalanine hydroxylase gene (7, 6, 10, 11, and 5) were amplified by polymerase chain reaction and directly sequenced. Among these patients, 15 were suffering from autism at the time of evaluation. Six mutations were identified: p.E280K, p.G352Vfs, IVS10nt11, p.I224T, p.R261Q, and p.R252W. There was no correlation between autism and mutations affecting the phenylalanine hydroxylase gene, but the age of diet onset was the determining factor in autistic symptoms’ evolution.</description><subject>Adolescent</subject><subject>Age Factors</subject><subject>Algeria</subject><subject>Autistic Disorder - complications</subject><subject>Autistic Disorder - genetics</subject><subject>Autistic Disorder - metabolism</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Exons</subject><subject>Family</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Humans</subject><subject>Life Sciences</subject><subject>Male</subject><subject>Mutation</subject><subject>Phenylalanine Hydroxylase - genetics</subject><subject>Phenylketonurias - complications</subject><subject>Phenylketonurias - diet therapy</subject><subject>Phenylketonurias - genetics</subject><subject>Phenylketonurias - metabolism</subject><subject>Prognosis</subject><subject>Psychiatric Status Rating Scales</subject><subject>Tunisia</subject><issn>0883-0738</issn><issn>1708-8283</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><recordid>eNqFkMtLw0AQxhdRbK3ePUnx5CW678exFLVCwR70vGy3E5uaR91NhP73JqRWEMTTDMxvvvnmQ-iS4FtClLrDWjOsmCZCUiaZPEJDorBONNXsGA27cdLNB-gsxg3GWAuDT9GASiUM52aIridNncVinJXjxRrKXf4OdVU2IXPjhaszKOt4jk5Sl0e42NcRen24f5nOkvnz49N0Mk88k6ROVn6JDfVYgBOtK0OAU84lpyZVzAjOFBVLcG2LQTgAmqbegZfGSyn9CtgIJb3u2uV2G7LChZ2tXGZnk7ndulhDEywmXLbO2Sdp-Zue34bqo4FY2yKLHvLclVA10RLdXW-fNv-jShvMBCMdinvUhyrGAOnBCsG2C93-Dr1dudqrN8sCVoeF75R_PovuDeymakLZBvm34Bf_Yoaa</recordid><startdate>20160601</startdate><enddate>20160601</enddate><creator>Khemir, Sameh</creator><creator>Halayem, Soumeyya</creator><creator>Azzouz, Hatem</creator><creator>Siala, Hajer</creator><creator>Ferchichi, Maherzia</creator><creator>Guedria, Asma</creator><creator>Bedoui, Amel</creator><creator>Abdelhak, Sonia</creator><creator>Messaoud, Taieb</creator><creator>Tebib, Neji</creator><creator>Belhaj, Ahlem</creator><creator>Kaabachi, Naziha</creator><general>SAGE Publications</general><general>SAGE Publications (UK and US)</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><scope>1XC</scope></search><sort><creationdate>20160601</creationdate><title>Autism in Phenylketonuria Patients</title><author>Khemir, Sameh ; 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| ispartof | Journal of child neurology, 2016-06, Vol.31 (7), p.843-849 |
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| source | Sage Journals Online |
| subjects | Adolescent Age Factors Algeria Autistic Disorder - complications Autistic Disorder - genetics Autistic Disorder - metabolism Child Child, Preschool Exons Family Female Gene Frequency Humans Life Sciences Male Mutation Phenylalanine Hydroxylase - genetics Phenylketonurias - complications Phenylketonurias - diet therapy Phenylketonurias - genetics Phenylketonurias - metabolism Prognosis Psychiatric Status Rating Scales Tunisia |
| title | Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects |
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