Exploring congenital sucrase-isomaltase deficiency in autism spectrum disorder patients with irritable bowel syndrome symptoms: A prospective gene sequencing study / Tanyel ZUBARIOGLU ; Dilara Ulgen ; Sedanur Akca-Yesil ; Selin Akbulut ; Huseyin Onay ; Gozde Uzunyayla-Inci ; Omer Faruk Beser ; Ali ?brahim Hatemi ; Çi?dem Aktu?lu-Zeybek ; Ertu?rul Kiykim in Autism Research, 18-1 (January 2025)  

Public ISBD [article]  inAutism Research > 18-1 (January 2025) . - p.44-55 Titre : Exploring congenital sucrase-isomaltase deficiency in autism spectrum disorder patients with irritable bowel syndrome symptoms: A prospective gene sequencing study : Autism Research Type de document : Texte imprimé et/ou numérique Auteurs : Tanyel ZUBARIOGLU, Auteur ; Dilara Ulgen, Auteur ; Sedanur Akca-Yesil, Auteur ; Selin Akbulut, Auteur ; Huseyin Onay, Auteur ; Gozde Uzunyayla-Inci, Auteur ; Omer Faruk Beser, Auteur ; Ali ?brahim Hatemi, Auteur ; Çi?dem Aktu?lu-Zeybek, Auteur ; Ertu?rul Kiykim, Auteur Article en page(s) : p.44-55 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  CSID  heterozygous  prospective screening  SI gene Index. décimale : PER Périodiques Résumé : Abstract Congenital sucrase-isomaltase deficiency (CSID) is an inherited metabolic disorder causing chronic gastrointestinal symptoms and malnutrition when untreated. Most CSID patients are likely to remain under- or misdiagnosed. This study aimed to investigate prevalence of CSID among patients with autism spectrum disorder (ASD) presenting with irritable bowel syndrome (IBS) symptoms via prospective SI gene sequencing. A prospective cross-sectional study was conducted on 98 ASD patients exhibiting gastrointestinal symptoms consistent with IBS. Participants were assessed according to Rome IV criteria and underwent SI gene sequencing. Demographic, clinical, and dietary data were collected and analyzed. Sucrose content in various fruits and vegetables was evaluated using three-day food record, and gastrointestinal symptoms were rated on Likert scale. Seven patients (7%) were diagnosed with CSID based on SI gene analysis, revealing six different variants, including four novel mutations. One patient was homozygous for one variant, and six patients were heterozygous. Clinical presentations predominantly included diarrhea, abdominal pain, and bloating, with two patients showing growth retardation. One patient was diagnosed in adulthood. Food allergy and lactose intolerance were the misdiagnoses prior to CSID diagnosis in two patients. Real prevalence of CSID is likely underestimated. Clinical heterogeneity and non-specific symptoms contribute to diagnostic challenges. Gastrointestinal symptoms consistent with IBS in ASD patients should include CSID in differential diagnosis. Early genetic screening for SI variants in ASD patients with IBS symptoms can facilitate timely diagnosis and management, improving outcomes. Heterozygous variants of the SI gene should also be considered, as heterozygous patients can exhibit typical CSID symptoms. En ligne : https://doi.org/10.1002/aur.3293 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=546 [article] Exploring congenital sucrase-isomaltase deficiency in autism spectrum disorder patients with irritable bowel syndrome symptoms: A prospective gene sequencing study : Autism Research [Texte imprimé et/ou numérique] / Tanyel ZUBARIOGLU, Auteur ; Dilara Ulgen, Auteur ; Sedanur Akca-Yesil, Auteur ; Selin Akbulut, Auteur ; Huseyin Onay, Auteur ; Gozde Uzunyayla-Inci, Auteur ; Omer Faruk Beser, Auteur ; Ali ?brahim Hatemi, Auteur ; Çi?dem Aktu?lu-Zeybek, Auteur ; Ertu?rul Kiykim, Auteur . - p.44-55. Langues : Anglais (eng) in Autism Research > 18-1 (January 2025) . - p.44-55 Mots-clés : autism spectrum disorder  CSID  heterozygous  prospective screening  SI gene Index. décimale : PER Périodiques Résumé : Abstract Congenital sucrase-isomaltase deficiency (CSID) is an inherited metabolic disorder causing chronic gastrointestinal symptoms and malnutrition when untreated. Most CSID patients are likely to remain under- or misdiagnosed. This study aimed to investigate prevalence of CSID among patients with autism spectrum disorder (ASD) presenting with irritable bowel syndrome (IBS) symptoms via prospective SI gene sequencing. A prospective cross-sectional study was conducted on 98 ASD patients exhibiting gastrointestinal symptoms consistent with IBS. Participants were assessed according to Rome IV criteria and underwent SI gene sequencing. Demographic, clinical, and dietary data were collected and analyzed. Sucrose content in various fruits and vegetables was evaluated using three-day food record, and gastrointestinal symptoms were rated on Likert scale. Seven patients (7%) were diagnosed with CSID based on SI gene analysis, revealing six different variants, including four novel mutations. One patient was homozygous for one variant, and six patients were heterozygous. Clinical presentations predominantly included diarrhea, abdominal pain, and bloating, with two patients showing growth retardation. One patient was diagnosed in adulthood. Food allergy and lactose intolerance were the misdiagnoses prior to CSID diagnosis in two patients. Real prevalence of CSID is likely underestimated. Clinical heterogeneity and non-specific symptoms contribute to diagnostic challenges. Gastrointestinal symptoms consistent with IBS in ASD patients should include CSID in differential diagnosis. Early genetic screening for SI variants in ASD patients with IBS symptoms can facilitate timely diagnosis and management, improving outcomes. Heterozygous variants of the SI gene should also be considered, as heterozygous patients can exhibit typical CSID symptoms. En ligne : https://doi.org/10.1002/aur.3293 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=546

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