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Relevant bibliographies by topics / Cri-du-chat syndrome

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Dissertations / Theses
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Academic literature on the topic 'Cri-du-chat syndrome'

Author: Grafiati

Published: 25 July 2021

Last updated: 25 April 2022

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Journal articles on the topic "Cri-du-chat syndrome"

1

Cuming, Lyndsay, Donna Diamond, Rouin Amirfeyz, and Martin Gargan. "Cri du Chat syndrome." Orthopaedics and Trauma 24, no. 2 (April 2010): 164–66. http://dx.doi.org/10.1016/j.mporth.2009.11.002.

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2

Rini, Eka Agustia, and R. Trin Suciati. "Cri-du-chat syndrome." Paediatrica Indonesiana 47, no. 3 (July 1, 2007): 136. http://dx.doi.org/10.14238/pi47.3.2007.136-8.

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Cri-du-chat syndrome (CDCS) is a rare chromosomal disorder, refers to a unique combination of physical and mental characteristics associated with a loss of genetic material on the distal short arm of the fifth chromosome.1 The incidence of CDCS is between 1:25,000 to 1:50,000 births. The prevalence among individuals with mental retardation is about 1.5 in 1000.2 A significant female predominance exists in affected newborns, with a male-to-female ratio of 0.72.2Subtle dysmorphism with neonatal complications and a high-pitched cry typically initiate diagnostic evaluation by cytogenetic studies. 2,3 Currently,there is no cure for cri-du-chat syndrome. The most successful approach in the management of children with CDCS requires a multidisciplinary team approach. 4 The case presented below will remind us how to reveal, suspect and diagnose Cri-Du-Chat syndrome, a rare case in pediatric.

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3

Gordon, R. R. "The Cri du Chat Syndrome." Developmental Medicine & Child Neurology 7, no. 4 (November 12, 2008): 423–25. http://dx.doi.org/10.1111/j.1469-8749.1965.tb08233.x.

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4

MILUNSKY, A., and R. G. CHITHAM. "THE CRI DU CHAT SYNDROME*." Journal of Intellectual Disability Research 10, no. 2 (June 28, 2008): 153–57. http://dx.doi.org/10.1111/j.1365-2788.1966.tb00182.x.

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5

Hong, Yu Chan, Eom Ji Choi, Yo Han Ho, Oh Kyung Lee, and Young Suk Kim. "Cri-du-chat Syndrome with Dysphagia." Perinatology 29, no. 1 (2018): 48. http://dx.doi.org/10.14734/pn.2018.29.1.48.

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6

Shiono, Hiroshi, Jun-Ichi Kadowaki, and Hisashi Kazama. "Dermatoglyphics in Cri du Chat syndrome." Clinical Genetics 11, no. 2 (April 23, 2008): 214–18. http://dx.doi.org/10.1111/j.1399-0004.1977.tb01302.x.

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7

XIE, YINGJUN, YI ZHOU, JIANZHU WU, YUNXIA SUN, YONGZHEN CHEN, and BAOJIANG CHEN. "When Cri du chat syndrome meets Edwards syndrome." Molecular Medicine Reports 11, no. 3 (November 10, 2014): 1933–38. http://dx.doi.org/10.3892/mmr.2014.2920.

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8

Yáñez-Vico, Rosa-María, Ángela Rodríguez-Caballero, Alejandro Iglesias-Linares, Noelia Guerra-López, Daniel Torres-Lagares, Guillermo Machuca-Portillo, Enrique Solano-Reina, and José-Luis Gutiérrez-Pérez. "Craniofacial characteristics in cri-du-chat syndrome." Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology 110, no. 6 (December 2010): e38-e44. http://dx.doi.org/10.1016/j.tripleo.2010.08.021.

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9

Collins, M. S. R. "Growth study of cri du chat syndrome." Archives of Disease in Childhood 85, no. 4 (October 1, 2001): 337–38. http://dx.doi.org/10.1136/adc.85.4.337.

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10

Gordon, R. R., and Patricia Cooke. "Facial Appearance in Cri du Chat Syndrome." Developmental Medicine & Child Neurology 10, no. 1 (November 12, 2008): 69–76. http://dx.doi.org/10.1111/j.1469-8749.1968.tb02840.x.

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Dissertations / Theses on the topic "Cri-du-chat syndrome"

1

Lindvall, Charlotta. "Molecular studies of acute myeloid leukemia and the telomerase reverse transcriptase gene /." Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-291-4.

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2

Claro, Anthony. "Atypical behaviours in developmental disorders: the association between fatique and autistic symptoms in children with Cri du Chat syndrome." Thesis, McGill University, 2010. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=95071.

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The goal of the current study is to examine whether fatigue level of children diagnosed with Cri du Chat syndrome or moderate to severe learning disabilities, is associated with their expression of autistic symptoms. Sixty-nine children with Cri du Chat syndrome and 47 children with moderate to severe learning disabilities were assessed using the ISQ-A for fatigue level and the CARS for autism level rating. In line with our hypothesis, results of hierarchical multiple regression analyses indicated that children who exhibited high levels of fatigue were more likely than children who exhibited low levels of fatigue to express high levels of autistic symptoms. Contrary to our hypothesis, children with moderate to severe learning disabilities who exhibited high levels of fatigue conferred the greatest vulnerability to the expression of autistic symptoms.
L'objectif de la présente étude est de déterminer s'il y a un lien entre le niveau de fatigue et l'expression de symptômes associées à l'autisme chez les enfants ayant été diagnostiqués avec le syndrome du Cri du Chat ou des difficultés d'apprentissage modérées ou sévères. Soixante-et-neuf enfants ayant le syndrome Cri du Chat et quarante-sept enfants souffrant de difficultés d'apprentissage modérées ou sévères ont fait l'objet d'examen en utilisant le ISQ-A pour déterminer les niveaux de fatigue et le CARS pour l'évaluation du niveau d'autisme. En accord avec notre hypothèse, les résultats des analyses de régression multiple indiquent que les enfants exhibant des niveaux plus élevés de fatigue étaient plus sujets que les enfants exhibant des niveaux plus bas de fatigue à montrer des niveaux élevés de symptômes d'autisme. Contrairement à notre hypothèse, ce sont les enfants ayant des difficultés d'apprentissage modérées ou sévères et exhibant des niveaux élevés de fatigue qui étaient les plus sujets à l'expression de symptômes d'autisme.

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3

Tunnicliffe, Penelope Louisa. "Self-injurious and aggressive behaviour in Angelman, Cri du Chat and Cornelia de Lange syndromes." Thesis, University of Birmingham, 2010. http://etheses.bham.ac.uk//id/eprint/768/.

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In a series of studies, the role of operant reinforcement of phenotypic problem behaviours in Angelman, Cri du Chat and Cornelia de Lange syndromes was explored. Firstly, a systematic review of the literature highlighted papers with robust experimental functional analytic designs; providing appropriate methodology for the subsequent studies. The review also showed a trend towards an increase in the number of published papers that linked facets of the behavioural phenotype to challenging behaviour (gene-environment interactions). Next, the phenomenology and correlates of self-injurious and aggressive behaviour in the syndromes were explored at a given level of behavioural specificity. Results showed that self-injury was more common in Cornelia de Lange syndrome and specific forms of aggressive behaviour were common in Angelman syndrome. Experimental functional analysis and structured descriptive assessments were utilised to examine gene-environment interactions in the syndromes and broadly, challenging behaviour in the Cornelia de Lange syndrome group evidenced a stronger association with pain, whereas challenging behaviour in the Angelman syndrome group evidenced a stronger association with positive social reinforcement. Overall, the studies provide evidence that challenging behaviour in genetic syndromes can be influenced by environmental factors. Implications for practice and for informing a comprehensive model of challenging behaviour are discussed.

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4

Piper, Christine [Verfasser]. "Verlaufsstudie bei 4 häufigen Chromosomenaberrationen : Cri-du-chat-Syndrom, Wolf-Hirschhorn-Syndrom, Trisomie 13, Trisomie 18 / vorgelegt von Christine Piper." 2005. http://d-nb.info/975964933/34.

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5

Mwale, Emanuel. "Jesus Christ’s humanity in the contexts of the pre-fall and post-fall natures of humanity: a comparative and critical evaluative study of the views of Jack Sequeira, Millard J. Erickson and Norman R. Gulley." Thesis, 2019. http://hdl.handle.net/10500/27660.

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Bibliography: leaves 653-669
Before God created human beings, He devised a plan to save them in case they sinned. In this plan, the second Person of the Godhead would become human. Thus, the incarnation of the second Person of the Godhead was solely for the purpose of saving fallen, sinful human beings. There would have been no incarnation if human beings had not sinned. Thus, the nature of the mission that necessitated the incarnation determined what kind of human nature Jesus was to assume. It was sin that necessitated the incarnation – sin as a tendency and sin as an act of disobedience. In His incarnational life and later through His death on Calvary’s cross, Jesus needed to deal with this dual problem of sin. In order for Him to achieve this, He needed to identify Himself with the fallen humanity in such a way that He would qualify to be the substitute for the fallen humanity. In His role as fallen humanity’s substitute, He would die vicariously and at the same time have sin as a tendency rendered impotent. Jesus needed to assume a human nature that would qualify Him to be an understanding and sympathetic High Priest. He needed to assume a nature that would qualify Him to be an example in overcoming temptation and suffering. Thus, in this study, after comparing and critically evaluating the Christological views of Jack Sequeira, Millard J. Erickson and Norman R. Gulley, I propose that Jesus assumed a unique post-fall (postlapsarian) human nature. He assumed the very nature that all human beings since humankind’s fall have, with its tendency or leaning towards sin. However, unlike other human beings, who are sinners by nature and need a saviour, Jesus was not a sinner. I contend that Jesus was unique because, first and foremost, He was conceived in Mary’s womb by the power of the Holy Spirit and was filled with the Holy Spirit throughout His earthly life. Second; He was the God-Man; and third, He lived a sinless life. This study contributes to literature on Christology, and uniquely to Christological dialogue between Evangelical and Seventh-day Adventist theologians.
Philosophy, Practical and Systematic Theology
D. Phil. (Systematic Theology)

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Books on the topic "Cri-du-chat syndrome"

1

Cornish, Kim. Cri du chat syndrome: Guide lines for parents and professionals. Barwell: Cri Du Chat Syndrome Support Group, 1998.

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2

Collins, Margaret Sutherland Ross. Towards targeted nutritional intervention in Cri du Chat syndrome(s) (5p-) Down's syndrome (Trisomy 21) and Autistic Spectrum disorders. [S.l: The author], 2000.

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3

Parker, James N., and Philip M. Parker. Cri-du-chat syndrome: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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Book chapters on the topic "Cri-du-chat syndrome"

1

Gilbert, Patricia. "Cri—du—chat syndrome." In The A-Z Reference Book of Syndromes and Inherited Disorders, 76–79. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-6918-7_20.

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2

Ohr, Phyllis S. "Cri-du-chat syndrome." In Health-related disorders in children and adolescents: A guidebook for understanding and educating., 192–96. Washington: American Psychological Association, 1998. http://dx.doi.org/10.1037/10300-027.

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3

Chen, Harold. "Cri-Du-Chat Syndrome." In Atlas of Genetic Diagnosis and Counseling, 675–83. New York, NY: Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_60.

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4

Chen, Harold. "Cri-Du-Chat Syndrome." In Atlas of Genetic Diagnosis and Counseling, 1–9. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_60-2.

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5

Peters, Nils, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, et al. "Cri-du-Chat Syndrome (Chromosome 5 Short Arm Deletion)." In Encyclopedia of Molecular Mechanisms of Disease, 462–64. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_426.

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6

Tariverdian, Gholamali. "Karyotyp bei Cri-du-Chat-Syndrom: 46, XX, 5p−." In Bildtafeln für die genetische Beratung, 53. Berlin, Heidelberg: Springer Berlin Heidelberg, 1992. http://dx.doi.org/10.1007/978-3-642-76495-0_27.

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7

Turleau, C. "Cri-du-Chat Syndrome." In Encyclopedia of Genetics, 486–87. Elsevier, 2001. http://dx.doi.org/10.1006/rwgn.2001.0290.

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8

"Cri-Du-Chat Syndrome." In Atlas of Genetic Diagnosis and Counseling, 521–28. New York, NY: Springer US, 2012. http://dx.doi.org/10.1007/978-1-4614-1037-9_60.

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9

Didden, R., and L. Curfs. "Cri-du-chat Syndrome." In Brenner's Encyclopedia of Genetics, 222–23. Elsevier, 2013. http://dx.doi.org/10.1016/b978-0-12-374984-0.00353-3.

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10

Dessibourg, Claude-André. "Syndrome du Cri du Chat." In Handicap mental : approche transdisciplinaire, 137–41. Elsevier, 2009. http://dx.doi.org/10.1016/b978-2-294-70371-3.50020-8.

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Conference papers on the topic "Cri-du-chat syndrome"

1

Gomez, M., J. Caceres, P. Panqueva, S. M. Restrepo, and M. Naranjo. "Ebstein's Anomaly with Severe Pulmonary Hypertension in a Patient with Cri-Du-Chat Syndrome." In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a5365.

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