A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability.

Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number variations (CNVs) in 416 patients with CA and ID from 5 different genetics centers within 4 different states by using the Multiplex Ligation-dependent Probe Amplification (MLPA) technique and to apply the chromosomal microarray (CMA) methodology in selected cases. The samples were analyzed by MLPA kits P064, P036, P070 and P250. Positive results were found in 97/416 (23.3%) patients. CMA was applied in 14 selected cases. In 6/14 (42.85%) patients, CMA detected other copy number variations not detected by the MLPA studies. Although CMA is indispensable for genotype refinement, the technique is still unfeasible in some countries as a routine analysis due to economic and technical limitations. In these cases, clinical evaluation followed by karyotyping and MLPA analysis is a helpful and affordable solution for diagnostic purposes.

Assessment of Intellectual and Visuo Spatial Abilities in Children and Adults with Williams Syndrome / Evaluación de habilidades intelectuales y visuoespaciales de niños y adultos con Síndrome de Williams

The Williams-Beuren syndrome (SWB), also known as Williams syndrome, is a contiguous gene deletion of the region 7q.11.23. The main clinical characteristics are typical faces, supravalvular aortic stenosis, failure to thrive, short stature, transient neonatal hypercalcemia, delayed language, friendly personality, hyperacusis and intellectual disability. The diagnosis of SWB is confirmed by the detection of micro deletion by different techniques of molecular cytogenetics, FISH, MLPA or polymorphic markers. This study assessed the verbal intelligence quotient (IQ) and performance and visuo-spatial skills in children and adults with WBS. The composed group was of 31 WBS patients (19 M and 12 F), whose ages ranged from 9 to 26 years (M 14.45 y). All patients had the diagnosis confirmed molecularly. The tests used were the WISC-III, WAIS-III and Rey-Osterrieth Complex Figure Test. The results indicated a total IQ ranged from 51 to 86 (M 63): 22 with mild intellectual disability, 4 with moderate intellectual disability, 4 borderlines and 1 below the normal media. All patients had marked visual-spatial deficits. The results suggest nonverbal reasoning, visuo-spatial perception, spatial representation, working memory, motor planning and executive functions are very affected in this group.

El síndrome de Williams-Beuren (SWB), también conocido como síndrome de Williams, es un síndrome de deleción de genes contiguos de la región 7q.11.23. Se caracteriza por dimorfismo facial típico asociado a anomalías cardiovasculares, personalidad amigable, hiperacusia y deficiencia intelectual. El diagnóstico del SWB es confirmado por la detección de microdeleción a partir de las diferentes técnicas de citogenética molecular: FISH, marcadores polimórficos o MLPA. Este estudio evaluó el cociente intelectual verbal y manipulativo, así como las habilidades visuoespaciales en niños y adultos con SWB. El grupo estuvo formado por 31 pacientes con SWB (19 de sexo masculino y 12 de sexo femenino), cuyas edades variaron entre 9 y 26 años (media 14.45 años). Todos los pacientes tenían el diagnóstico confirmado molecularmente. Los test utilizados fueron las escalas WISC-III, WAIS-III y el Test Figuras Complejas Rey-Osterrieth. Los resultados indicaron un cociente intelectual que osciló de 51 a 86 (media 63), distribuido así: 22 con deficiencia intelectual leve, 4 con deficiencia intelectual moderada, 4 limítrofes, 1 en la media inferior. Todos los pacientes presentaron déficit visuoespacial. Los resultados sugieren que el razonamiento no verbal, la percepción visuoespacial, la representación espacial, la memoria de trabajo, la planificación motora y las funciones ejecutivas están muy comprometidos en el grupo estudiado.

Influência do estresse nos níveis sangüíneos de lipídios, de ácido ascórbico, de zinco e de outros parâmetros bioquímicos / Stress' influence on blood levels of lipid, ascorbic acid, zinc and other biochemical parameters

Muitos estudos apontam quanto à possibilidade de que o estresse afete a concentração de lipídeos, de ácido ascórbico, de zinco e de outros parâmetros bioquímicos e que estes elementos devem provocar alterações hormonais e bioquímicas, prejudicando o sistema cardiovascular. Assim, esta pesquisa teve como objetivo verificar o estresse em suas diferentes modalidades: tolerância, tensão, fontes, estado e vulnerabilidade e depois correlacionar as respostas de tais questionários com as alterações bioquímicas propostas em análise. A população examinada foi de 29 pacientes trabalhadores ou estudantes da Universidade federal de Santa Catarina - Brasil. Observou-se que a maioria das pessoas, da comunidade universitária analisada, convive com problemas de estresse e que os indivíduos mais tolerantes ao estresse são os menos vulneráveis. Da mesma forma, foi possível observar que os indivíduos mais tensos foram aqueles com estado de sofrimento ou sofrimento severo. Para correlação das análises bioquímicas o questionário sobre estado de estresse foi o que mais apresentou alterações significativas com os diversos parâmetros bioquímicos analisados. Nesta pesquisa pode-se notar que os problemas de estresse provocam um aumento de colesterol total e LDL-colesterol e uma pequena diminuição da fração HDL-colesterol, cálcio, magnésio, ácido ascórbico e zinco. Contudo, em nenhum dos questionários utilizados observou-se qualquer correlação entre os problemas de estresse e as análises bioquímicas como o fósforo, sódio, potássio e vitamina B12. Conclui-se que os parâmetros bioquímicos são ferramentas importantes na análise do estresse e que este deve acelerar o curso da aterosclerose coronariana.

Tactual performance test: item analysis of the memory and location scores.

An item analytic study of the Tactual Performance Test Memory and Location scores was conducted. Item difficulty and Discrimination Index values are presented for the total sample and three groups: normal (n = 146), diffusely brain-damaged (n = 130), and undiagnosed patients sent for assessment (n =326).

Item difficulty of the tactual performance test location score.

The item difficulty and discrimination index values for the Tactual Performance Test Location scores are presented. The difference between this and the previous item analysis of the Location score is that in this analysis the subjects' Location scores were used only if the subject correctly remembered the block.

Tactual Performance Test: internal consistency reliability of the memory and location scores.

Internal consistency reliabilities were computed for the Tactual Performance Test Memory and Location scores (N=602). After adjusting for unequal item difficulty, the reliabilities for Memory and Location were .69 and .79, respectively.

Child abduction: aged-based analyses of offender, victim, and offense characteristics in 550 cases of alleged child disappearance.

Crimes against children, particularly cases involving abduction and/or homicide, continue to be problematic as both a social phenomenon and judicial responsibility. Such cases routinely receive immense community and media attention and rapidly overwhelm investigative resources. Research in the area of childhood victimization, however, has only recently gained national prominence. While numerous studies on child abuse and neglect have been conducted, research on child abduction and homicide remains scant. Previous studies examining child abduction suffer from limited geographical scope or fail to base predictive analyses on victim characteristics. The current study reports the results of a nationally representative sample (47 states, the District of Columbia, and Puerto Rico) of 550 cases of alleged child abduction obtained from Federal Bureau of Investigation files for the period 1985 through 1995. Study results demonstrate that both offender and offense characteristics vary significantly according to victim age, gender, and race. Such differences appear critical to crime reconstruction, criminal profiling, and investigative resolution. Additionally, these data suggest that current child abduction prevention programs may emphasize inaccurate offender traits.

Speech-Sounds Perception Test: analysis of a randomized answer form.

Responses to two forms of the answer sheet for the Speech-Sounds Perception Test, the standard form and a revised form in which the error types were randomized, were analyzed for 40 subjects. Although there was a statistically significant difference between the forms, practically it was negligible.

Speech-Sounds Perception Test: analysis of error types in normal and diffusely brain-damaged patients.

An analysis of the types of error (Initial, Terminal, and Both) made on the Speech-Sounds Perception Test was conducted on data collected from 104 normal controls and 56 diffusely brain-damaged patients. The brain-damaged group made more Terminal and Both errors than the normal group. A logistic regression analysis showed that knowing the types of error did not produce a higher percentage of correctly classified subjects than knowing only the total score.

Digit span performance and unilateral neglect.

This study tested the alternative hypotheses of Weinberg et al. (J. clin. Psychol. 28, 361, 1976) and Robertson (Neuropsychologia 28, 217-222, 1990) regarding the nature of dysfunctions underlying impaired backward digit span among patients with unilateral neglect. Results support the Weinberg et al. hypothesis that visual imagery plays a primary role in performance of Digits Backward. The findings also indicate a unilateral component to the Digits Backward task. Both neglecting and non-neglecting patients with high digit span discrepancy (DD) evidenced attentional bias to right space and a specific impairment in rotating objects in left space. Results were not consistent with Robertson's hypothesis that high DD arises from a general attentional deficit. In fact, patients with low DD evidence greatest impairment on tests of attention.