Williams syndrome: development of a new scoring system for clinical diagnosis (2007)
- Authors:
- USP affiliated authors: KIM, CHONG AE - FM ; OKAY, THELMA SUELY - FM ; LEONE, CLAUDIO - FM
- Unidade: FM
- DOI: 10.1590/s1807-59322007000200011
- Subjects: SÍNDROME DE WILLIAMS; CROMOSSOMOS HUMANOS PAR 7; HIBRIDIZAÇÃO; GENES; ELASTINA
- Language: Inglês
- Abstract: OBJECTIVE: To develop a scoring system based on clinical findings to assist pediatricians in the diagnosis of William syndrome and to delineate when the fluorescent in-situ hybridization test to detect the microdeletion at 7q11.23 may be needed.METHODS: The fluorescent in-situ hybridization test was performed on 20 patients presenting William syndrome suggestive clinical features. Eleven studies were selected from the literature in which there were 2 groups: patients with positive or negative fluorescent in-situ hybridization tests. Forty-two clinical characteristics were compared to those reported in the literature to determine which ones were associated with the affected patients (ie, bearing deletions) using meta-analysis. The 2-tailed Fisher exact test were used so that the frequency of findings observed in fluorescent in-situ hybridization positive and fluorescent in-situ hybridization negative patients could be compared in the present study together with the patients from the literature. We developed a scoring system based on clinical findings and their significant associations with patients with positive fluorescent in-situ hybridization tests. From themean and standard-deviation values of the data from our patients, we determined the cut-off score that that indicated the need for a fluorescent in-situ hybridization test to confirm diagnosis.RESULTS: Seventeen patients were fluorescent in-situ hybridization positive, and 3 were fluorescent in-situhybridization negative. The more discriminative findings among fluorescent in-situ hybridization positive patients were the following: typical facies, low birth weight, feeding difficulties, constipation, supravalvar aortic stenosis, mental retardation, and friendly personality. The distribution of the points among the 20 patients ranged from 19 to 28 points with a mean value of 23.3 out of a possible total of 31 points. The cut-off score that indicated the need for a fluorescent in-situ hybridization test was 20.CONCLUSIONS: Our scoring system enables physicians to differentiate between those individuals who can be reliably diagnosed as having Williams syndrome solely from the clinical findings and those who need to undergo fluorescent in-situ hybridization testing for a correct diagnosis
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ABNT
SUGAYAMA, Sofia Mizuho Miura et al. Williams syndrome: development of a new scoring system for clinical diagnosis. Clinics, v. 62, n. 2, p. 159-166, 2007Tradução . . Disponível em: https://doi.org/10.1590/s1807-59322007000200011. Acesso em: 01 maio 2024. -
APA
Sugayama, S. M. M., Leone, C., Chauffaille, M. de L. L. F., Okay, T. S., & Kim, C. A. (2007). Williams syndrome: development of a new scoring system for clinical diagnosis. Clinics, 62( 2), 159-166. doi:10.1590/s1807-59322007000200011 -
NLM
Sugayama SMM, Leone C, Chauffaille M de LLF, Okay TS, Kim CA. Williams syndrome: development of a new scoring system for clinical diagnosis [Internet]. Clinics. 2007 ; 62( 2): 159-166.[citado 2024 maio 01 ] Available from: https://doi.org/10.1590/s1807-59322007000200011 -
Vancouver
Sugayama SMM, Leone C, Chauffaille M de LLF, Okay TS, Kim CA. Williams syndrome: development of a new scoring system for clinical diagnosis [Internet]. Clinics. 2007 ; 62( 2): 159-166.[citado 2024 maio 01 ] Available from: https://doi.org/10.1590/s1807-59322007000200011 - Nutrition Therapy in a Pediatric Intensive Care Unit: Indications, Monitoring, and Complications
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Informações sobre o DOI: 10.1590/s1807-59322007000200011 (Fonte: oaDOI API)
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