Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods

Autor: Andrea Guala, Marianna Spunton, Fabio Tognon, Marilena Pedrinazzi, Luisa Medolago, Paola Cerutti Mainardi, Silvia Spairani, Michela Malacarne, Enrico Finale, Mario Comelli, Cesare Danesino

Publikováno v: The Scientific World Journal, Vol 2016 (2016)

The Cri du Chat syndrome (CdC) is a rare genetic disorder caused by variable size deletions of the short arm of chromosome 5 (5p−). It is well known that home-reared patients show better performances as compared to institutionalised cases, and it w

Externí odkaz: https://doaj.org/article/7c1b9c7eb3024b5d85a9d1c7b9bdbbed

From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome.

Autor: Sforza E; Università Cattolica del Sacro Cuore, Rome, 00168, Italy.; A.B.C. Associazione Bambini Cri du chat Scientific Committee, Firenze, Italy., Calà F; Department of Information Engineering, University of Florence, Florence, 50139, Italy., Manfredi C; Department of Information Engineering, University of Florence, Florence, 50139, Italy., Lanatà A; Department of Information Engineering, University of Florence, Florence, 50139, Italy., Guala A; A.B.C. Associazione Bambini Cri du chat Scientific Committee, Firenze, Italy.; Department of Pediatrics, Castelli Hospital, Verbania, Italy., Danesino C; A.B.C. Associazione Bambini Cri du chat Scientific Committee, Firenze, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Cistaro A; A.B.C. Associazione Bambini Cri du chat Scientific Committee, Firenze, Italy.; Nuclear Medicine Department, Salus Alliance Medical, Genoa, Italy., Mazzocca M; A.B.C. Associazione Bambini Cri du chat Scientific Committee, Firenze, Italy., D'Alatri L; Unit for Ear, Nose and Throat Medicine, Department of Neuroscience, Sensory Organs and Chest, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy., Onesimo R; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy., Frassineti L; Department of Information Engineering, University of Florence, Florence, 50139, Italy., Zampino G; Università Cattolica del Sacro Cuore, Rome, 00168, Italy. giuseppe.zampino@unicatt.it.; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy. giuseppe.zampino@unicatt.it.

Publikováno v: European journal of pediatrics [Eur J Pediatr] 2024 Dec 03; Vol. 184 (1), pp. 60. Date of Electronic Publication: 2024 Dec 03.

Hallazgos neuropsicológicos, neurofisiológicos e imagenológicos en dos casos con síndrome Cri du chat.

Autor: Zaldívar Bermúdez, Marilyn¹ marilyn@neuro.ciren.cu, Morales Chacón, Lilia María¹, González González, Judith¹, Maragoto Rizo, Carlos¹, Báez Martín, Margarita Minou¹, Hernández Díaz, Zenaida M.¹

Publikováno v: Revista Cubana de Neurología y Neurocirugía. sep-dic2020, Vol. 10 Issue 3, p1-14. 14p.

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Social Economic Costs, Health-Related Quality of Life and Disability in Patients with Cri Du Chat Syndrome.

Autor: Kodra, Yllka, Cavazza, Marianna, de Santis, Marta, Guala, Andrea, Liverani, Maria-Elena, Armeni, Patrizio, Masini, Maura, Taruscio, Domenica

Publikováno v: International Journal of Environmental Research & Public Health; Aug2020, Vol. 17 Issue 16, p5951-5951, 1p