Novel insight into GLUT1 deficiency syndrome: screening for emotional and behavioral problems in youths following ketogenic diet
Varesio, Costanza; Zanaboni, Martina P; Pasca, Ludovica; Provenzi, Livio; Ferraris, Cinzia; Tagliabue, Anna; Pezzotti, Elena; Carpani, Adriana; Veggiotti, Pierangelo; DE Giorgis, Valentina
BACKGROUND:Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare disorder with a broad spectrum of neurological manifestations. The ketogenic diet (KD) is, to date, the gold standard treatment. Behavioral problems, well recognized in patients with chronic conditions, have not been, so far, deeply investigated in GLUT1DS patients. We performed an exploratory study to assess the risk of emotional and behavioral problems and investigated the potential role of influencing factors related to the pathology itself or KD treatment. METHODS:This was a mono-center retrospective study involving youths with GLUT1Ds treated with KD and a group of migraine patients age- and gender-matched. Patients were included if the main caregiver completed the Child Behavior Check List 6-18 (CBCL). Descriptive statistics for demographic and clinical data and questionnaire scores were computed. Correlational analyses were used to assess the potential associations of clinical variables and age and time from KD introduction with CBCL scores in GLUT1DS patients. RESULTS:We enrolled nine youths with GLUT1DS and 9 with migraine. In the GLUT1DS group, none of the mean scores of the CBCL items fell within the borderline/clinical range, except for social problems located in the borderline range. Investigation for influencing factors revealed the patient's age related to withdrawn/depressive (r=0.709, P=0.032) and social problems (r=.684, P=0.042). Time from the introduction of KD was related to social problems (r=.827, P=0.006). From the comparison with the scores obtained from migraine patients, significantly higher scores emerged in the latter group in internalizing problems (Z=-2.48, P=0.01), externalizing problems (Z=-3.49, P<0.001), anxious/depressed subscale (Z=-2.37, P=0.014), somatic complaints subscale (Z=-2.624, P=0.008), aggressive behavior subscale (Z=-2.539, P=0.011). CONCLUSIONS:Although highly exploratory in its nature, this study provides a novel insight into GLUT1DS. Our data suggested that the risk for internalizing problems in GLUT1DS youths was related to higher age and higher time elapsed from KD introduction. They occurred at a sub-clinical level, making them difficult to detect, if not expressly and systematically investigated.
PMID: 33820407
ISSN: 2724-5780
CID: 5965022
A state-of-the-art overview of candidate diagnostic biomarkers for Attention-deficit/hyperactivity disorder (ADHD)
Parlatini, Valeria; Bellato, Alessio; Gabellone, Alessandra; Margari, Lucia; Marzulli, Lucia; Matera, Emilia; Petruzzelli, Maria Giuseppina; Solmi, Marco; Correll, Christoph U; Cortese, Samuele
INTRODUCTION/UNASSIGNED:Attention-deficit/hyperactivity disorder (ADHD) is one of the most common neurodevelopmental conditions and is highly heterogeneous in terms of symptom profile, associated cognitive deficits, comorbidities, and outcomes. Heterogeneity may also affect the ability to recognize and diagnose this condition. The diagnosis of ADHD is primarily clinical but there are increasing research efforts aiming at identifying biomarkers that can aid the diagnosis. AREAS COVERED/UNASSIGNED:We first discuss the definition of biomarkers and the necessary research steps from discovery to implementation. We then provide a broad overview of research studies on candidate diagnostic biomarkers in ADHD encompassing genetic/epigenetic, biochemical, neuroimaging, neurophysiological and neuropsychological techniques. Finally, we critically appraise current limitations in the field and suggest possible ways forward. EXPERT OPINION/UNASSIGNED:Despite the large number of studies and variety of techniques used, no promising biomarkers have been identified so far. Clinical and biological heterogeneity as well as methodological limitations, including small sample size, lack of standardization, confounding factors, and poor replicability, have hampered progress in the field. Going forward, increased international collaborative efforts are warranted to support larger and more robustly designed studies, develop multimodal datasets to combine biomarkers and improve diagnostic accuracy, and ensure reproducibility and meaningful clinical translation.
PMID: 38506617
ISSN: 1744-8352
CID: 5640532
The "Woundosome" Concept and Its Impact on Procedural Outcomes in Patients With Chronic Limb-Threatening Ischemia [Editorial]
Patrone, Lorenzo; Pasqui, Edoardo; Conte, Michael S; Farber, Alik; Ferraresi, Roberto; Menard, Matthew; Mills, Joseph L; Rundback, John; Schneider, Peter; Ysa, August; Abhishek, Kumar; Adams, George L; Ahmad, Naseer; Ahmed, Irfan; Alexandrescu, Vlad A; Amor, Max; Alper, David; Andrassy, Martin; Attinger, Christopher; Baadh, Andy; Barakat, Hashem; Biasi, Lukla; Bisdas, Theodosios; Bhatti, Zagum; Blessing, Erwin; Bonaca, Marc P; Bonvini, Stefano; Bosiers, Michel; Bradbury, Andrew W; Beasley, Robert; Behrendt, Christian-Alexander; Brodmann, Marianne; Cabral, Gonzalo; Cancellieri, Roberto; Casini, Andrea; Chandra, Venita; Chisci, Emiliano; Chohan, Omar; Choke, Edward T C; Chong, Patrick F S; Clerici, Giacomo; Coscas, Raphael; Costantino, Mary; Dalla Paola, Luca; Dand, Sabeen; Davies, Robert S M; D'Oria, Mario; Diamantopoulos, Athanasios; Debus, Sebastian; Deloose, Koen; Del Giudice, Costantino; Donato, Gianmarco de; Rubertis, Brian De; Paul De Vries, Jean; Dias, Nuno V; Diaz-Sandoval, Larry; Dick, Florian; Donas, Konstantinos; Dua, Anahita; Fanelli, Fabrizio; Fazzini, Stefano; Foteh, Mazin; Gandini, Roberto; Gargiulo, Mauro; Garriboli, Luca; Genovese, Elizabeth A; Gifford, Edward; Goueffic, Yann; Goverde, Peter; Chand Gupta, Prem; Hinchliffe, Robert; Holden, Andrew; Houlind, Kim C; Howard, Dominic Pj; Huasen, Bella; Isernia, Giacomo; Katsanos, Konstantinos; Katzen, Barry; Kolh, Philippe; Koncar, Igor; Korosoglou, Grigorios; Krishnan, Prakash; Kroencke, Thomas; Krokidis, Miltiadis; Kumarasamy, Arun; Hayes, Paul; Iida, Osamu; Alejandre Lafont, Enrique; Langhoff, Ralf; Lecis, Alexandre; Lessne, Mark; Lichaa, Hady; Lichtenberg, Michael; Lobato, Marta; Lopes, Alice; Loreni, Giorgio; Lucatelli, Pierleone; Madassery, Sreekumar; Maene, Lieven; Manzi, Marco; Maresch, Martin; Santhosh Mathews, Jay; McCaslin, James; Micari, Antonio; Michelagnoli, Stefano; Migliara, Bruno; Morgan, Robert; Morelli, Luis; Morosetti, Daniele; Mouawad, Nicolas; Moxey, Paul; Müller-Hülsbeck, Stefan; Mustapha, Jihad; Nakama, Tatsuya; Nasr, Bahaa; N'dandu, Zola; Neville, Richard; Noory, Elias; Nordanstig, Joakim; Noronen, Katariina; Mariano Palena, Luis; Parlani, Gianbattista; Patel, Ashish S; Patel, Parag; Patel, Rafiuddin; Patel, Sanjay; Pena, Costantino; Perkov, Drazen; Portou, Mark; Pratesi, Giovanni; Rammos, Christos; Reekers, Jim; Riambau, Vicente; Roy, Trisha; Rosenfield, Kenneth; Antonella Ruffino, Maria; Saab, Fadi; Saratzis, Athanasios; Sbarzaglia, Paolo; Schmidt, Andrej; Secemsky, Eric; Siah, Michael; Sillesen, Henrik; Simonte, Gioele; Sirvent, Marc; Sommerset, Jill; Steiner, Sabine; Sakr, Ahmed; Scheinert, Dierk; Shishebor, Mehdi; Spiliopoulos, Stavros; Spinelli, Alessio; Stravoulakis, Konstantinos; Taneva, Gergana; Teso, Desarom; Tessarek, Joerg; Theivacumar, Selva; Thomas, Anish; Thomas, Shannon; Thulasidasan, Narayan; Torsello, Giovanni; Tripathi, Ramesh; Troisi, Nicola; Tummala, Srini; Tummala, Venkat; Twine, Christopher; Uberoi, Raman; Ucci, Alessandro; Valenti, Domenico; van den Berg, Jos; van den Heuvel, Daniel; Van Herzeele, Isabelle; Varcoe, Ramon; Vega de Ceniga, Melina; Veith, Frank J; Venermo, Maarit; Vijaynagar, Badri; Virdee, Sanjiv; Von Stempel, Conrad; Voûte, Michiel T; Khee Yeung, Kak; Zeller, Thomas; Zayed, Hany; Montero Baker, Miguel
PMID: 38523459
ISSN: 1545-1550
CID: 5645462