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Denise M Christofolini,
Eduardo M Abbud,
Monica V N Lipay,
Silvia S Costa,
Angela M Vianna-Morgante,
Fernanda T S Bellucco,
Sintia I Nogueira,
Leslie D Kulikowski, Décio Brunoni,
Yára Juliano,
Marco A P Ramos,
Maria Isabel Melaragno
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ABSTRACT: Patients with fragile X syndrome present a variable phenotype, which contributes to the underdiagnosing of this condition. The use of clinical checklists in individuals with intellectual disability can help in selecting patients to be given priority in the molecular investigation of the fragile X mutation in the FMR1 gene. Some features included in checklists are better predictors than others, but they can vary among different populations and with patient age. In the present study, we evaluated 20 features listed in four clinical checklists from the literature, using a sample of 192 Brazilian male patients presenting with intellectual disability (30 positive and 162 negative for fragile X mutation). After statistical analysis, 12 out of the 20 items analyzed showed significant differences in their distributions between the two groups. These features were grouped in a new checklist that can help clinicians in their referral for fragile X testing in patients with developmental delay.
Journal of Intellectual Disabilities 09/2009; 13(3):239-48.
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ABSTRACT: To translate into Portuguese, back-translate, culturally adapt and validate a screening instrument for pervasive developmental disorder, the Autism Screening Questionnaire, for use in Brazil.
A sample of 120 patients was selected based on three groups of 40: patients with a clinical diagnosis of pervasive developmental disorder, Down syndrome, or other psychiatric disorders. The self-administered questionnaire was applied to the patients' legal guardians. Psychometric measures of the final version of the translated questionnaire were tested.
The score of 15 had sensitivity of 92.5% and specificity of 95.5% as a cut-off point for the diagnosis of pervasive developmental disorder. Internal validity for a total of 40 questions was 0.895 for alpha and 0.896 for KR-20, ranging from 0.6 to 0.8 for both coefficients. Test and retest reliability values showed strong agreement for most questions.
The final version of this instrument, translated into Portuguese and adapted to the Brazilian culture, had satisfactory measurement properties, suggesting preliminary validation proprieties. It was an easy-to-apply, useful tool for the diagnostic screening of individuals with pervasive developmental disorder.
Revista Brasileira de Psiquiatria 04/2009; 31(1):30-3. · 1.20 Impact Factor
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ABSTRACT: The frequencies of pervasive developmental disorder (PDD) in Down's syndrome (DS) have been reported from 1% to 11%. However, it is not clear if the frequency of this co-occurrence is higher or lower than in other mental retardations. We study a large sample of DS population, finding a PDD frequency of 15.6%, with 5.58% of autism (eight males and two females) and 10.05% of PDD non autism (nine males and nine females. The meaning of this frequency is discussed.
Journal of Autism and Developmental Disorders 09/2007; 37(7):1394-5. · 3.34 Impact Factor
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ABSTRACT: Robinow syndrome is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial and genital anomalies that can be inherited in an autosomal dominant or recessive mode. We characterized these two variants clinically, with the aim of establishing clinical criteria to enhance the differential diagnosis between them or other similar conditions. The frequencies of clinical signs considered important for the discrimination of the dominant or recessive variants were estimated in a sample consisting of 38 patients personally examined by the authors and of 50 affected subjects from the literature. Using the presence of rib fusions as diagnostic of the recessive variant, and also based on the inheritance pattern in familial cases, we classified 37 patients as having the recessive form and other 51 as having the dominant form. The clinical signs present in more than 75% of patients with either form, and therefore the most important for the characterization of this syndrome were hypertelorism, nasal features (large nasal bridge, short upturned nose, and anteverted nares), midface hypoplasia, mesomelic limb shortening, brachydactyly, clinodactyly, micropenis, and short stature. Hemivertebrae and scoliosis were present in more than 75% of patients with the recessive form, but in less than 25% of patients with the dominant form. Umbilical hernia (32.3%) and supernumerary teeth (10.3%) were found exclusively in patients with the dominant form.
American Journal of Medical Genetics Part A 03/2007; 143(4):320-5. · 2.39 Impact Factor
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ABSTRACT: We report on a girl who, despite her 45,X/46,X,der(Y) karyotype, showed no signs of virilization or physical signs of the Ullrich-Turner syndrome (UTS), except for a reduced growth rate. After prophylactic gonadectomy due to the risk of developing gonadoblastoma, the gonads and peripheral blood samples were analyzed by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) to detect Y-specific sequences. These analyses allowed us to characterize the Y-derived chromosome as being an isodicentric Yp chromosome (idic(Yp)) and showed a pronounced difference in the distribution of the 45,X/46,X,idic(Yp) mosaicism between the two analyzed tissues. It was shown that, although in peripheral blood almost all cells (97.5%) belonged to the idic(Yp) line with a duplicated SRY gene, this did not determine any degree of male sexual differentiation in the patient, as in the gonads the predominant cell line was 45,X (60%).
American Journal of Medical Genetics Part A 10/2006; 140A(17):1871-5. · 2.39 Impact Factor
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ABSTRACT: We report on a girl who, despite her 45,X/46,X,der(Y) karyotype, showed no signs of virilization or physical signs of the Ullrich–Turner syndrome (UTS), except for a reduced growth rate. After prophylactic gonadectomy due to the risk of developing gonadoblastoma, the gonads and peripheral blood samples were analyzed by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) to detect Y-specific sequences. These analyses allowed us to characterize the Y-derived chromosome as being an isodicentric Yp chromosome (idic(Yp)) and showed a pronounced difference in the distribution of the 45,X/46,X,idic(Yp) mosaicism between the two analyzed tissues. It was shown that, although in peripheral blood almost all cells (97.5%) belonged to the idic(Yp) line with a duplicated SRY gene, this did not determine any degree of male sexual differentiation in the patient, as in the gonads the predominant cell line was 45,X (60%). © 2006 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A 08/2006; 140A(17):1871 - 1875. · 2.39 Impact Factor
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ABSTRACT: We report on a patient with hydrocephaly, penoscrotal transposition, oligodactyly, and minor anomalies. Comprehensive cytogenetic studies involving both classical cytogenetic methods and mBAND analysis were used to show a stable dicentric rearranged chromosome 13 that result in a 46,XY,psu dic(13;13)(13pter --> 13q32::13q11 --> 13pter) de novo karyotype. This aberration probably arose as a consequence of unequal sister chromatid breakage repair events. This report is the first to describe all of the most severe features associated with partial monosomy in one patient. Moreover, the delineation of monosomy 13q32 --> qter in this patient facilitates identification of the developmental genes responsible for the clinical features within this region of chromosome 13.
American Journal of Medical Genetics Part A 07/2006; 140(12):1321-5. · 2.39 Impact Factor
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ABSTRACT: Autism is a neuropsychiatric disorder with profound family and social consequences. An extraordinary number of genetical-clinical, cytogenetics and molecular studies were done in recent years. A multiloci epistatic model involved in the causation of autism have emerged from these studies.
Revista Brasileira de Psiquiatria 01/2005; 26(4):270-2. · 1.20 Impact Factor
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ABSTRACT: There are many impediments to the progress of clinical and medical genetics in developing countries. Higher priorities concerning basic health care usually take precedence over genetic diseases and birth defects among medical professionals and public health officials. This is so in spite of the fact that the global prevalence of these conditions seems higher than in the developed world and that limited resources enhance the burden on individuals, families and populations. Furthermore, as a consequence of recent advances in medical genetics, demand for genetic services has increased, reinforcing the need for programs for the management and prevention of genetic diseases and birth defects, especially at primary health care level. An overview of these issues in Brazil is presented here, with information on the health system, the evolution of medical and clinical genetics in the country, and the situation of medical and clinical genetic services. We discuss proposals for implementing appropriate, ethically acceptable and equitable clinical genetic services for the Brazilian population.
Community Genetics 01/2004; 7(2-3):95-105. · 1.32 Impact Factor
