{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T10:09:08Z","timestamp":1764842948590,"version":"3.37.3"},"reference-count":59,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T00:00:00Z","timestamp":1733184000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T00:00:00Z","timestamp":1733184000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"DOI":"10.1007\/s00431-024-05828-5","type":"journal-article","created":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T16:50:19Z","timestamp":1733244619000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome"],"prefix":"10.1007","volume":"184","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5646-7406","authenticated-orcid":false,"given":"Elisabetta","family":"Sforza","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-2214-8597","authenticated-orcid":false,"given":"Federico","family":"Cal\u00e0","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6364-9753","authenticated-orcid":false,"given":"Claudia","family":"Manfredi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6540-5952","authenticated-orcid":false,"given":"Antonio","family":"Lanat\u00e0","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5006-8164","authenticated-orcid":false,"given":"Andrea","family":"Guala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8400-5671","authenticated-orcid":false,"given":"Cesare","family":"Danesino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8024-8425","authenticated-orcid":false,"given":"Angelina","family":"Cistaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matelda","family":"Mazzocca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3104-958X","authenticated-orcid":false,"given":"Lucia","family":"D\u2019Alatri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3128-6657","authenticated-orcid":false,"given":"Roberta","family":"Onesimo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9546-4494","authenticated-orcid":false,"given":"Lorenzo","family":"Frassineti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2661-4831","authenticated-orcid":false,"given":"Giuseppe","family":"Zampino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,12,3]]},"reference":[{"issue":"3","key":"5828_CR1","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1007\/BF00394291","volume":"44","author":"E Niebuhr","year":"1978","unstructured":"Niebuhr E (1978) The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. Human Gen 44(3):227\u2013275. https:\/\/doi.org\/10.1007\/BF00394291","journal-title":"Human Gen"},{"key":"5828_CR2","first-page":"3098","volume":"257","author":"J Lejeune","year":"1963","unstructured":"Lejeune J, Lafourcade J, Berger R, Vialatte J, Boeswillwald M, Seringe P, Turpin R (1963) Trois cas de d\u2019el\u2019etion partielle du bras court d\u2019un chromosome 5 [3 cases of partial deletion of the short arm of a 5 chromosome]. Comptes rendus hebdomadaires des seances de l\u2019Academie des sciences 257:3098\u20133102","journal-title":"Comptes rendus hebdomadaires des seances de l'Academie des sciences"},{"issue":"3","key":"5828_CR3","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1136\/jmg.38.3.151","volume":"38","author":"P Cerruti Mainardi","year":"2001","unstructured":"Cerruti Mainardi P, Perfumo C, Cal\u00ec A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD (2001) Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Gen 38(3):151\u2013158. https:\/\/doi.org\/10.1136\/jmg.38.3.151","journal-title":"J Med Gen"},{"key":"5828_CR4","doi-asserted-by":"publisher","first-page":"645595","DOI":"10.3389\/fgene.2021.645595","volume":"12","author":"J Nevado","year":"2021","unstructured":"Nevado J, Bel-Fenell\u00f3s C, Sandoval-Talamantes AK, Hern\u00e1ndez A, Biencinto-L\u00f3pez C, Mart\u00ednez-Fern\u00e1ndez ML, Barr\u00faz P, Santos-Simarro F, Mori-\u00c1lvarez M\u00c1, Mansilla E, Garc\u00eda-Santiago FA, Valcorba I, S\u00e1enz-Rico B, Mart\u00ednez-Fr\u00edas ML, Lapunzina P (2021) Deep phenotyping and genetic characterization of a cohort of 70 individuals with 5p minus syndrome. Front Gen 12:645595. https:\/\/doi.org\/10.3389\/fgene.2021.645595","journal-title":"Front Gen"},{"issue":"3","key":"5828_CR5","doi-asserted-by":"publisher","first-page":"e473","DOI":"10.4317\/medoral.15.e473","volume":"15","author":"A Rodr\u00edguez-Caballero","year":"2010","unstructured":"Rodr\u00edguez-Caballero A, Torres-Lagares D, Rodr\u00edguez-P\u00e9rez A, Serrera-Figallo MA, Hern\u00e1ndez-Guisado JM, Machuca-Portillo G (2010) Cri du chat syndrome: a critical review. Med Oral Patol Oral y Cirugia Bucal 15(3):e473\u2013e478. https:\/\/doi.org\/10.4317\/medoral.15.e473","journal-title":"Med Oral Patol Oral y Cirugia Bucal"},{"issue":"16","key":"5828_CR6","doi-asserted-by":"publisher","first-page":"5951","DOI":"10.3390\/ijerph17165951","volume":"17","author":"Y Kodra","year":"2020","unstructured":"Kodra Y, Cavazza M, de Santis M, Guala A, Liverani ME, Armeni P, Masini M, Taruscio D (2020) Social economic costs, health-related quality of life and disability in patients with Cri du chat syndrome. Int J Environ Res Public Health 17(16):5951. https:\/\/doi.org\/10.3390\/ijerph17165951","journal-title":"Int J Environ Res Public Health"},{"issue":"8","key":"5828_CR7","doi-asserted-by":"publisher","first-page":"1628","DOI":"10.3390\/genes14081628","volume":"14","author":"C Bel-Fenell\u00f3s","year":"2023","unstructured":"Bel-Fenell\u00f3s C, Biencinto-L\u00f3pez C, S\u00e1enz-Rico B, Hern\u00e1ndez A, Sandoval-Talamantes AK, Tenorio-Casta\u00f1o J, Lapunzina P, Nevado J (2023) Cognitive-behavioral profile in pediatric patients with syndrome 5p-; genotype-phenotype correlationships. Genes 14(8):1628. https:\/\/doi.org\/10.3390\/genes14081628","journal-title":"Genes"},{"issue":"4","key":"5828_CR8","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1017\/s0012162299000559","volume":"41","author":"KM Cornish","year":"1999","unstructured":"Cornish KM, Bramble D, Munir F, Pigram J (1999) Cognitive functioning in children with typical cri du chat (5p-) syndrome. Dev Med Child Neurol 41(4):263\u2013266. https:\/\/doi.org\/10.1017\/s0012162299000559","journal-title":"Dev Med Child Neurol"},{"key":"5828_CR9","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1186\/1750-1172-1-33","volume":"1","author":"MP Cerruti","year":"2006","unstructured":"Cerruti MP (2006) Cri du chat syndrome. Orphanet J Rare Dis 1:33. https:\/\/doi.org\/10.1186\/1750-1172-1-33","journal-title":"Orphanet J Rare Dis"},{"key":"5828_CR10","doi-asserted-by":"publisher","first-page":"220","DOI":"10.29011\/2688-7460.100220","volume":"7","author":"M Mazzocca","year":"2023","unstructured":"Mazzocca M, Cistaro A, Liava A, Danesino C, Guala A (2023) Voice analysis in 63 Italian Cri du chat patients. Fam Med Prim Care Open Access 7:220. https:\/\/doi.org\/10.29011\/2688-7460.100220","journal-title":"Fam Med Prim Care Open Access"},{"issue":"6","key":"5828_CR11","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1159\/000524371","volume":"13","author":"VT Almeida","year":"2023","unstructured":"Almeida VT, Chehimi SN, Gasparini Y, Nascimento AM, Carvalho GFS, Montenegro MM, Zanardo \u00c9A, Dias AT, Assun\u00e7\u00e3o NA, Kim CA, Kulikowski LD (2023) Cri-du-chat syndrome: revealing a familial atypical deletion in 5p. Mol Syndromol 13(6):527\u2013536. https:\/\/doi.org\/10.1159\/000524371","journal-title":"Mol Syndromol"},{"key":"5828_CR12","doi-asserted-by":"publisher","first-page":"3125283","DOI":"10.1155\/2016\/3125283","volume":"2016","author":"A Guala","year":"2016","unstructured":"Guala A, Spunton M, Tognon F, Pedrinazzi M, Medolago L, Cerutti Mainardi P, Spairani S, Malacarne M, Finale E, Comelli M, Danesino C (2016) Psychomotor development in Cri du chat syndrome: comparison in two Italian cohorts with different rehabilitation methods. Sci World J 2016:3125283. https:\/\/doi.org\/10.1155\/2016\/3125283","journal-title":"Sci World J"},{"key":"5828_CR13","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1016\/j.ejpn.2020.07.002","volume":"28","author":"R Villa","year":"2020","unstructured":"Villa R, Fergnani VGC, Silipigni R, Guerneri S, Cinnante C, Guala A, Danesino C, Scola E, Conte G, Fumagalli M, Gangi S, Colombo L, Picciolini O, Ajmone PF, Accogli A, Madia F, Tassano E, Scala M, Capra V, Srour M, Bedeschi MF (2020) Structural brain anomalies in Cri-du-chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations. Eur J Paediatr Neurol EJPN Off J Eur Paediatric Neurol Soc 28:110\u2013119. https:\/\/doi.org\/10.1016\/j.ejpn.2020.07.002","journal-title":"Eur J Paediatr Neurol EJPN Off J Eur Paediatric Neurol Soc"},{"issue":"8","key":"5828_CR14","doi-asserted-by":"publisher","first-page":"1195","DOI":"10.2967\/jnumed.119.236893","volume":"61","author":"A Cistaro","year":"2020","unstructured":"Cistaro A, Quartuccio N, Piccardo A, Fania P, Spunton M, Liava A, Danesino C, Albani G, Guala A (2020) 18F-FDG PET identifies altered brain metabolism in patients with Cri du chat syndrome. J Nucl Med Off Public Soc Nuclear Med 61(8):1195\u20131199. https:\/\/doi.org\/10.2967\/jnumed.119.236893","journal-title":"J Nucl Med Off Public Soc Nuclear Med"},{"issue":"7","key":"5828_CR15","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1016\/j.ijporl.2015.04.030","volume":"79","author":"R Villafuerte-Gonzalez","year":"2015","unstructured":"Villafuerte-Gonzalez R, Valadez-Jimenez VM, Hernandez-Lopez X, Ysunza PA (2015) Acoustic analysis of voice in children with cleft palate and velopharyngeal insufficiency. Int J Pediatr Otorhinolaryngol 79(7):1073\u20131076. https:\/\/doi.org\/10.1016\/j.ijporl.2015.04.030","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"8","key":"5828_CR16","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1080\/02699206.2019.1595732","volume":"33","author":"LD Shriberg","year":"2019","unstructured":"Shriberg LD, Strand EA, Jakielski KJ, Mabie HL (2019) Estimates of the prevalence of speech and motor speech disorders in persons with complex neurodevelopmental disorders. Clin linguistics Phonet 33(8):707\u2013736. https:\/\/doi.org\/10.1080\/02699206.2019.1595732","journal-title":"Clin linguistics Phonet"},{"issue":"6","key":"5828_CR17","doi-asserted-by":"publisher","first-page":"961.e9","DOI":"10.1016\/j.jvoice.2019.04.016","volume":"34","author":"C Gorris","year":"2020","unstructured":"Gorris C, Ricci Maccarini A, Vanoni F, Poggioli M, Vaschetto R, Garzaro M, Aluffi Valletti P (2020) Acoustic analysis of normal voice patterns in Italian adults by using Praat. J Voice Off J Voice Found 34(6):961.e9-961.e18. https:\/\/doi.org\/10.1016\/j.jvoice.2019.04.016","journal-title":"J Voice Off J Voice Found"},{"key":"5828_CR18","doi-asserted-by":"publisher","first-page":"104887","DOI":"10.1016\/j.bspc.2023.104887","volume":"85","author":"L Frassineti","year":"2023","unstructured":"Frassineti L, Cal\u00e0 F, Sforza E, Onesimo R, Leoni C, Lanat\u00e0 A, Zampino G, Manfredi C (2023) Quantitative acoustical analysis of genetic syndromes in the number listing task. Biomed Signal Process Contr 85:104887. https:\/\/doi.org\/10.1016\/j.bspc.2023.104887","journal-title":"Biomed Signal Process Contr"},{"key":"5828_CR19","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1016\/j.bspc.2014.07.006","volume":"17","author":"A Bandini","year":"2015","unstructured":"Bandini A, Giovannelli F, Orlandi S, Barbagallo SD, Cincotta M, Vanni P, Chiaramonti R, Borgheresi A, Zaccara G, Manfredi C (2015) Automatic identification of dysprosody in idiopathic Parkinson\u2019s disease, Biomed. Signal Processing. Control 17:47\u201354. https:\/\/doi.org\/10.1016\/j.bspc.2014.07.006","journal-title":"Control"},{"key":"5828_CR20","doi-asserted-by":"publisher","unstructured":"Dejonckere PH, Bradley P, Clemente P, Cornut G, Crevier-Buchman L, Friedrich G, Van De Heyning P, Remacle M, Woisard V, Committee on Phoniatrics of the European Laryngological Society (ELS) (2001) A basic protocol for functional assessment of voice pathology, especially for investigating the efficacy of (phonosurgical) treatments and evaluating new assessment techniques. Guideline elaborated by the Committee on Phoniatrics of the European Laryngological Society (ELS). Eur Arch Oto-rhino-laryngology Off J Eur Federat Oto-Rhino-Laryngological Societies (EUFOS) Affiliated German Soc Oto-Rhino-Laryngology - Head Neck Surge 258(2):77\u201382. https:\/\/doi.org\/10.1007\/s004050000299","DOI":"10.1007\/s004050000299"},{"issue":"3","key":"5828_CR21","first-page":"219","volume":"117","author":"PH Dejonckere","year":"1996","unstructured":"Dejonckere PH, Remacle M, Fresnel-Elbaz E, Woisard V, Crevier-Buchman L, Millet B (1996) Differentiated perceptual evaluation of pathological voice quality: reliability and correlations with acoustic measurements. Revue de Laryngologie - otologie - rhinologie 117(3):219\u2013224","journal-title":"Revue de Laryngologie - otologie - rhinologie"},{"issue":"4","key":"5828_CR22","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1016\/j.otoeng.2022.10.004","volume":"74","author":"MJ Marsano-Cornejo","year":"2023","unstructured":"Marsano-Cornejo MJ, Roco-Videla \u00c1 (2023) Variation of the acoustic parameters: f0, jitter, shimmer and alpha ratio in relation with different background noise levels. Acta Otorrinolaringologica Espanola 74(4):219\u2013225. https:\/\/doi.org\/10.1016\/j.otoeng.2022.10.004","journal-title":"Acta Otorrinolaringologica Espanola"},{"issue":"12","key":"5828_CR23","doi-asserted-by":"publisher","first-page":"1375","DOI":"10.3390\/bioengineering10121375","volume":"10","author":"F Cal\u00e0","year":"2023","unstructured":"Cal\u00e0 F, Frassineti L, Sforza E, Onesimo R, D\u2019Alatri L, Manfredi C, Lanata A, Zampino G (2023) Artificial intelligence procedure for the screening of genetic syndromes based on voice characteristics. Bioengineering 10(12):1375. https:\/\/doi.org\/10.3390\/bioengineering10121375","journal-title":"Bioengineering"},{"issue":"12","key":"5828_CR24","doi-asserted-by":"publisher","first-page":"3991","DOI":"10.1044\/2020_JSLHR-20-00212","volume":"63","author":"B van der Woerd","year":"2020","unstructured":"van der Woerd B, Wu M, Parsa V, Doyle PC, Fung K (2020) Evaluation of acoustic analyses of voice in nonoptimized conditions. J Speech Language Hear Res JSLHR 63(12):3991\u20133999. https:\/\/doi.org\/10.1044\/2020_JSLHR-20-00212","journal-title":"J Speech Language Hear Res JSLHR"},{"key":"5828_CR25","unstructured":"Frassineti L, Zucconi A, Cal\u00e0 F, Sforza E, Onesimo R, Leoni C, Rigante M, Manfredi C, Zampino G (2021) Analysis of vocal patterns as a diagnostic tool in patients with genetic syndromes, in: 12th International Workshop, Models and Analysis of Vocal Emissions for Biomedical Applications, pp. 83\u201386. Available from: http:\/\/digital.casalini.it\/978885518449"},{"issue":"4","key":"5828_CR26","doi-asserted-by":"publisher","first-page":"1273","DOI":"10.1121\/1.393788","volume":"80","author":"M Hirano","year":"1986","unstructured":"Hirano M, McCormick KR (1986) Clinical examination of voice. J Acoust Soc Am 80(4):1273","journal-title":"J Acoust Soc Am"},{"key":"5828_CR27","doi-asserted-by":"publisher","first-page":"102302","DOI":"10.1016\/j.bspc.2020.102302","volume":"64","author":"MS Morelli","year":"2021","unstructured":"Morelli MS, Orlandi S, Manfredi C (2021) BioVoice: a multipurpose tool for voice analysis. Biomed Signal Process Contr 64:102302. https:\/\/doi.org\/10.1016\/j.bspc.2020.102302","journal-title":"Biomed Signal Process Contr"},{"issue":"6","key":"5828_CR28","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1080\/0269920031000086248","volume":"17","author":"RD Kent","year":"2003","unstructured":"Kent RD, Kim YJ (2003) Toward an acoustic typology of motor speech disorders. Clin Linguist Phonet 17(6):427\u2013445. https:\/\/doi.org\/10.1080\/0269920031000086248","journal-title":"Clin Linguist Phonet"},{"issue":"4","key":"5828_CR29","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1044\/1092-4388(2007\/064)","volume":"50","author":"S Sapir","year":"2007","unstructured":"Sapir S, Spielman JL, Ramig LO, Story BH, Fox C (2007) Effects of intensive voice treatment (the Lee Silverman Voice Treatment [LSVT]) on vowel articulation in dysarthric individuals with idiopathic Parkinson disease: acoustic and perceptual findings. J Speech Language Hear Res JSLHR 50(4):899\u2013912. https:\/\/doi.org\/10.1044\/1092-4388(2007\/064)","journal-title":"J Speech Language Hear Res JSLHR"},{"key":"5828_CR30","doi-asserted-by":"publisher","first-page":"103317","DOI":"10.1016\/j.jbi.2019.103317","volume":"100","author":"SR Walter","year":"2019","unstructured":"Walter SR, Dunsmuir WTM, Westbrook JI (2019) Inter-observer agreement and reliability assessment for observational studies of clinical work. J Biomedical Informat 100:103317. https:\/\/doi.org\/10.1016\/j.jbi.2019.103317","journal-title":"J Biomedical Informat"},{"issue":"2","key":"5828_CR31","doi-asserted-by":"publisher","first-page":"300.e11","DOI":"10.1016\/j.jvoice.2020.12.014","volume":"37","author":"Z Ma","year":"2023","unstructured":"Ma Z, Bullen C, Chu JTW, Wang R, Wang Y, Singh S (2023) Towards the objective speech assessment of smoking status based on voice features: a review of the literature. J Voice Off J Voice Found 37(2):300.e11-300.e20. https:\/\/doi.org\/10.1016\/j.jvoice.2020.12.014","journal-title":"J Voice Off J Voice Found"},{"issue":"3","key":"5828_CR32","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1044\/jshr.0103.227","volume":"1","author":"J Van den Berg","year":"1958","unstructured":"Van den Berg J (1958) Myoelastic-aerodynamic theory of voice production. J Speech Hear Res 1(3):227\u2013244. https:\/\/doi.org\/10.1044\/jshr.0103.227","journal-title":"J Speech Hear Res"},{"key":"5828_CR33","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1016\/j.jcomdis.2018.05.004","volume":"74","author":"RD Kent","year":"2018","unstructured":"Kent RD, Vorperian HK (2018) Static measurements of vowel formant frequencies and bandwidths: a review. J Commun Disord 74:74\u201397. https:\/\/doi.org\/10.1016\/j.jcomdis.2018.05.004","journal-title":"J Commun Disord"},{"issue":"3","key":"5828_CR34","doi-asserted-by":"publisher","first-page":"1749","DOI":"10.1044\/2020_AJSLP-19-00178","volume":"29","author":"RD Kent","year":"2020","unstructured":"Kent RD, Rountrey C (2020) What acoustic studies tell us about vowels in developing and disordered speech. Am J Speech-language Pathol 29(3):1749\u20131778. https:\/\/doi.org\/10.1044\/2020_AJSLP-19-00178","journal-title":"Am J Speech-language Pathol"},{"key":"5828_CR35","doi-asserted-by":"publisher","first-page":"5467083","DOI":"10.1155\/2016\/5467083","volume":"2016","author":"LD Espirito Santo","year":"2016","unstructured":"Espirito Santo LD, Moreira LM, Riegel M (2016) Cri-du-chat syndrome: clinical profile and chromosomal microarray analysis in six patients. BioMed Res Int 2016:5467083. https:\/\/doi.org\/10.1155\/2016\/5467083","journal-title":"BioMed Res Int"},{"issue":"6","key":"5828_CR36","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1111\/jir.12476","volume":"62","author":"RS Honjo","year":"2018","unstructured":"Honjo RS, Mello CB, Pimenta LSE, Nu\u00f1es-Vaca EC, Benedetto LM, Khoury RBF, Befi-Lopes DM, Kim CA (2018) Cri du chat syndrome: characteristics of 73 Brazilian patients. J Intellect Disab Res JIDR 62(6):467\u2013473. https:\/\/doi.org\/10.1111\/jir.12476","journal-title":"J Intellect Disab Res JIDR"},{"issue":"2","key":"5828_CR37","doi-asserted-by":"publisher","first-page":"e957","DOI":"10.1002\/mgg3.957","volume":"8","author":"SN Chehimi","year":"2019","unstructured":"Chehimi SN, Zanardo \u00c9A, Ceroni JRM, Nascimento AM, Madia FAR, Dias AT, Filho GMN, Montenegro MM, Damasceno J, Costa TVMM, Gasparini Y, Kim CA, Kulikowski LD (2019) Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry. Mol Gen Gen Med 8(2):e957. https:\/\/doi.org\/10.1002\/mgg3.957","journal-title":"Mol Gen Gen Med"},{"issue":"3","key":"5828_CR38","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1002\/(sici)1096-8628(20000131)90:3<203::aid-ajmg5>3.0.co;2-a","volume":"90","author":"GJ Van Buggenhout","year":"2000","unstructured":"Van Buggenhout GJ, Pijkels E, Holvoet M, Schaap C, Hamel BC, Fryns JP (2000) Cri du chat syndrome: changing phenotype in older patients. Am J Med Gen 90(3):203\u2013215. https:\/\/doi.org\/10.1002\/(sici)1096-8628(20000131)90:3%3c203::aid-ajmg5%3e3.0.co;2-a","journal-title":"Am J Med Gen"},{"key":"5828_CR39","volume-title":"Cri du chat syndrome","author":"A Ajitkumar","year":"2022","unstructured":"Ajitkumar A, Jamil RT, Mathai JK (2022) Cri du chat syndrome. StatPearls Publishing, In StatPearls"},{"key":"5828_CR40","doi-asserted-by":"publisher","first-page":"54","DOI":"10.4103\/abr.abr_254_21","volume":"10","author":"H Azadi","year":"2021","unstructured":"Azadi H, Akbarzadeh-T MR, Shoeibi A, Kobravi HR (2021) Evaluating the effect of Parkinson\u2019s disease on jitter and shimmer speech features. Adv Biomed Res 10:54. https:\/\/doi.org\/10.4103\/abr.abr_254_21","journal-title":"Adv Biomed Res"},{"key":"5828_CR41","doi-asserted-by":"publisher","first-page":"842301","DOI":"10.3389\/fdgth.2022.842301","volume":"4","author":"P Hecker","year":"2022","unstructured":"Hecker P, Steckhan N, Eyben F, Schuller BW, Arnrich B (2022) Voice analysis for neurological disorder recognition-a systematic review and perspective on emerging trends. Front Digit Health 4:842301. https:\/\/doi.org\/10.3389\/fdgth.2022.842301","journal-title":"Front Digit Health"},{"issue":"5","key":"5828_CR42","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1016\/j.jvoice.2015.06.010","volume":"30","author":"MLA Forero","year":"2016","unstructured":"Forero MLA, Kohler M, Vellasco MM, Cataldo E (2016) Analysis and classification of voice pathologies using glottal signal parameters. J Voice Off J Voice Found 30(5):549\u2013556. https:\/\/doi.org\/10.1016\/j.jvoice.2015.06.010","journal-title":"J Voice Off J Voice Found"},{"issue":"1","key":"5828_CR43","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.jvoice.2006.08.003","volume":"22","author":"Y Zhang","year":"2008","unstructured":"Zhang Y, Jiang JJ (2008) Acoustic analyses of sustained and running voices from patients with laryngeal pathologies. J Voice Off J Voice Found 22(1):1\u20139. https:\/\/doi.org\/10.1016\/j.jvoice.2006.08.003","journal-title":"J Voice Off J Voice Found"},{"issue":"2","key":"5828_CR44","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1016\/j.jvoice.2017.04.017","volume":"32","author":"BBV Latoszek","year":"2018","unstructured":"Latoszek BBV, De Bodt M, Gerrits E, Maryn Y (2018) The exploration of an objective model for roughness with several acoustic markers. J Voice Off J Voice Found 32(2):149\u2013161. https:\/\/doi.org\/10.1016\/j.jvoice.2017.04.017","journal-title":"J Voice Off J Voice Found"},{"issue":"5","key":"5828_CR45","doi-asserted-by":"publisher","first-page":"1329","DOI":"10.1121\/1.394384","volume":"80","author":"H Kasuya","year":"1986","unstructured":"Kasuya H, Ogawa S, Mashima K, Ebihara S (1986) Normalized noise energy as an acoustic measure to evaluate pathologic voice. J Acoustic Soc Am 80(5):1329\u20131334. https:\/\/doi.org\/10.1121\/1.394384","journal-title":"J Acoustic Soc Am"},{"issue":"6","key":"5828_CR46","doi-asserted-by":"publisher","first-page":"3879","DOI":"10.1121\/1.1898623","volume":"117","author":"HM Liu","year":"2005","unstructured":"Liu HM, Tsao FM, Kuhl PK (2005) The effect of reduced vowel working space on speech intelligibility in Mandarin-speaking young adults with cerebral palsy. J Acoustic Soc Am 117(6):3879\u20133889. https:\/\/doi.org\/10.1121\/1.1898623","journal-title":"J Acoustic Soc Am"},{"issue":"4","key":"5828_CR47","doi-asserted-by":"publisher","first-page":"1177","DOI":"10.1044\/1092-4388(2011\/11-0083)","volume":"55","author":"KC Hustad","year":"2012","unstructured":"Hustad KC, Schueler B, Schultz L, DuHadway C (2012) Intelligibility of 4-year-old children with and without cerebral palsy. J Speech Lang Hear Res JSLHR 55(4):1177\u20131189. https:\/\/doi.org\/10.1044\/1092-4388(2011\/11-0083)","journal-title":"J Speech Lang Hear Res JSLHR"},{"issue":"6S","key":"5828_CR48","doi-asserted-by":"publisher","first-page":"1766","DOI":"10.1044\/2017_JSLHR-S-16-0274","volume":"60","author":"ES Levy","year":"2017","unstructured":"Levy ES, Chang YM, Ancelle JA, McAuliffe MJ (2017) Acoustic and perceptual consequences of speech cues for children with dysarthria. J Speech Lang Hear Res JSLHR 60(6S):1766\u20131779. https:\/\/doi.org\/10.1044\/2017_JSLHR-S-16-0274","journal-title":"J Speech Lang Hear Res JSLHR"},{"issue":"4","key":"5828_CR49","doi-asserted-by":"publisher","first-page":"321","DOI":"10.3109\/02699206.2010.535647","volume":"25","author":"K Bunton","year":"2011","unstructured":"Bunton K, Leddy M (2011) An evaluation of articulatory working space area in vowel production of adults with Down syndrome. Clin Linguist Phonet 25(4):321\u2013334. https:\/\/doi.org\/10.3109\/02699206.2010.535647","journal-title":"Clin Linguist Phonet"},{"issue":"5","key":"5828_CR50","doi-asserted-by":"publisher","first-page":"1147","DOI":"10.1044\/1092-4388(2006\/082)","volume":"49","author":"DJ Zajac","year":"2006","unstructured":"Zajac DJ, Roberts JE, Hennon EA, Harris AA, Barnes EF, Misenheimer J (2006) Articulation rate and vowel space characteristics of young males with fragile X syndrome: preliminary acoustic findings. J Speech Lang Hear Res JSLHR 49(5):1147\u20131155. https:\/\/doi.org\/10.1044\/1092-4388(2006\/082)","journal-title":"J Speech Lang Hear Res JSLHR"},{"issue":"4","key":"5828_CR51","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1044\/1092-4388(2007\/064)","volume":"50","author":"S Sapir","year":"2007","unstructured":"Sapir S, Spielman JL, Ramig LO, Story BH, Fox C (2007) Effects of intensive voice treatment (the Lee Silverman Voice Treatment [LSVT]) on vowel articulation in dysarthric individuals with idiopathic Parkinson disease: acoustic and perceptual findings. J Speech Lang Hear Res JSLHR 50(4):899\u2013912. https:\/\/doi.org\/10.1044\/1092-4388(2007\/064)","journal-title":"J Speech Lang Hear Res JSLHR"},{"issue":"3","key":"5828_CR52","doi-asserted-by":"publisher","first-page":"467.e1","DOI":"10.1016\/j.jvoice.2021.01.026","volume":"37","author":"ML Fiorella","year":"2023","unstructured":"Fiorella ML, Cavallaro G, Di Nicola V, Quaranta N (2023) Voice differences when wearing and not wearing a surgical mask. J Voice Off J Voice Found 37(3):467.e1-467.e7. https:\/\/doi.org\/10.1016\/j.jvoice.2021.01.026","journal-title":"J Voice Off J Voice Found"},{"key":"5828_CR53","doi-asserted-by":"publisher","unstructured":"Ceylan ME, Cangi ME, Y\u0131lmaz G, Peru BS, Yi\u011fit \u00d6 (2023) Are smartphones and low-cost external microphones comparable for measuring time-domain acoustic parameters?. European archives of oto-rhino-laryngology: official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery, https:\/\/doi.org\/10.1007\/s00405-023-08179-3. Advance online publication. https:\/\/doi.org\/10.1007\/s00405-023-08179-3","DOI":"10.1007\/s00405-023-08179-3 10.1007\/s00405-023-08179-3"},{"issue":"8","key":"5828_CR54","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1017\/S0022215109005398","volume":"123","author":"PN Carding","year":"2009","unstructured":"Carding PN, Wilson JA, MacKenzie K, Deary IJ (2009) Measuring voice outcomes: state of the science review. J Laryngol Otol 123(8):823\u2013829. https:\/\/doi.org\/10.1017\/S0022215109005398","journal-title":"J Laryngol Otol"},{"issue":"4","key":"5828_CR55","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1016\/j.ejmg.2014.02.005","volume":"57","author":"A Elmakky","year":"2014","unstructured":"Elmakky A, Carli D, Lugli L, Torelli P, Guidi B, Falcinelli C, Fini S, Ferrari F, Percesepe A (2014) A three-generation family with terminal microdeletion involving 5p1533-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome. Eur J Med Gen 57(4):145\u2013150. https:\/\/doi.org\/10.1016\/j.ejmg.2014.02.005","journal-title":"Eur J Med Gen"},{"issue":"4","key":"5828_CR56","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1038\/sj.ejhg.5201345","volume":"13","author":"Q Wu","year":"2005","unstructured":"Wu Q, Niebuhr E, Yang H, Hansen L (2005) Determination of the \u2018critical region\u2019 for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR. Eur J Human Gen EJHG 13(4):475\u2013485. https:\/\/doi.org\/10.1038\/sj.ejhg.5201345","journal-title":"Eur J Human Gen EJHG"},{"issue":"4","key":"5828_CR57","doi-asserted-by":"publisher","first-page":"2614","DOI":"10.1121\/1.4964509","volume":"140","author":"Z Zhang","year":"2016","unstructured":"Zhang Z (2016) Mechanics of human voice production and control. J Acoustic Soc Am 140(4):2614. https:\/\/doi.org\/10.1121\/1.4964509","journal-title":"J Acoustic Soc Am"},{"issue":"3","key":"5828_CR58","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1002\/ajmg.a.37445","volume":"170","author":"B Zhang","year":"2016","unstructured":"Zhang B, Willing M, Grange DK, Shinawi M, Manwaring L, Vineyard M, Cottrell CE (2016) Multigenerational autosomal dominant inheritance of 5p chromosomal deletions. Am J Med Gen Part A 170(3):583\u2013593. https:\/\/doi.org\/10.1002\/ajmg.a.37445","journal-title":"Am J Med Gen Part A"},{"issue":"3","key":"5828_CR59","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1002\/ajmg.c.31444","volume":"169","author":"JM Nguyen","year":"2015","unstructured":"Nguyen JM, Qualmann KJ, Okashah R, Reilly A, Alexeyev MF, Campbell DJ (2015) 5p deletions: current knowledge and future directions. Am J Med Gen Part C Semin Med Gen 169(3):224\u2013238. https:\/\/doi.org\/10.1002\/ajmg.c.31444","journal-title":"Am J Med Gen Part C Semin Med Gen"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-024-05828-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00431-024-05828-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-024-05828-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T03:47:18Z","timestamp":1737690438000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00431-024-05828-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,3]]},"references-count":59,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,1]]}},"alternative-id":["5828"],"URL":"https:\/\/doi.org\/10.1007\/s00431-024-05828-5","relation":{},"ISSN":["1432-1076"],"issn-type":[{"type":"electronic","value":"1432-1076"}],"subject":[],"published":{"date-parts":[[2024,12,3]]},"assertion":[{"value":"20 July 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 July 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 November 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 December 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was performed in line with the principles of the Declaration of Helsinki and approved by the Research Ethical Committee of the Catholic University of Sacred Heart, Rome.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Informed consent was obtained from parents of all participants included in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"60"}}