Family environment patterns in families with bipolar children

Background: We studied the characteristics of family functioning in bipolar children and healthy comparison children. We hypothesized that the family environment of bipolar children would show greater levels of dysfunction as measured by the Family Environment Scale (FES). Methods: We compared the family functioning of 36 families that included a child with DSM-IV bipolar disorder versus 29 comparison families that included only healthy children. All subjects and their parents were assessed with the K-SADS-PL interview. The parents completed the FES to assess their current family functioning. Multivariate analysis of variance was used to compare the family environment of families with and without offspring with bipolar disorder. Results: Parents of bipolar children reported lower levels of family cohesion (p<0.001), expressiveness (p=0.005), active-recreational orientation (p<0.001), intellectual-cultural orientation (p=0.04) and higher levels of conflict (p<0.001) compared to parents with no bipolar children. Secondary analyses within the bipolar group revealed lower levels of organization (p=0.03 1) and cohesion (p=0.014) in families where a parent had a history of mood disorders compared to families where parents had no history of mood disorders. Length of illness in the affected child was inversely associated with family cohesion (r=-0.47, p=0.004). Limitations: Due to the case-control design of the study, we cannot comment on the development of these family problems or attribute their cause specifically to child bipolar disorder. Conclusion: Families with bipolar children show dysfunctional patterns related to interpersonal interactions and personal growth. A distressed family environment should be addressed when treating children with bipolar disorder. (C) 2007 Elsevier B.V. All rights reserved.

A novel TBX5 missense mutation (V263M) in a family with atrial septal defects and postaxial hexodactyly

Background: Congenital heart diseases are the most frequent birth defects and are commonly associated with skeletal malformations. Mutations in the TBX5 gene, a T-box transcription factor located on chromosome 12q24.1, have been demonstrated to be the underlying molecular alteration in individuals with different congenital cardiac disorders, notably the Holt-Oram syndrome. Methods: Six members from a two-generation family from a consanguineous couple, which had atrial septal defects associated with postaxial hexodactyly in all extremities were clinically assessed and submitted to TBX5 mutational analysis performed by direct sequencing. Results: We detected a new TBX5 missense mutation (V263M) in all four individuals studied with cardiac abnormalities. The genotype phenotype correlations in light of unusual features are extensively discussed, as well as the possible significance of these atypical findings. Conclusions: These new data extend our clinical and molecular knowledge of TBX5 gene mutations and also raise interesting questions about the phenotype heterogeneity regarding these gene alterations. (C) 2008 Elsevier Ireland Ltd. All rights reserved.

Evaluation of RET polymorphisms in a six-generation family with G533C RET mutation: specific RET variants may modulate age at onset and clinical presentation

P>Context We previously described a six-generation family with G533C RET mutation and medullary thyroid carcinoma, in the largest family reported do date. Of particular interest, phenotype variability regarding the age of onset and clinical presentation of the disease, was observed. Objective We evaluate whether single SNPs within RET oncogene or haplotype comprising the RET variants (defined by Haploview) could predispose to early development of MTC in this family and influence the clinical manifestation. Design Eight SNPs were selected based on their previous association with the clinical course of hereditary or sporadic MTC, in particular promoting an early onset of disease. The variants were initially tested in 77 G533C-carriers and 100 controls using either PCR-direct sequencing or PCR-RFLP. Association between a SNP or haplotype and age at diagnosis or presence of lymph node metastasis was tested in 34 G533C-carries with MTC. Different bioinformatic tools were used to evaluate the potential effects on RNA splicing. Results An association was found between IVS1-126G > T and age at diagnosis. The variant [IVS8 +82A > G; 85-86 insC] was associated with the presence of lymph node metastases at diagnosis. In silico analysis suggested that this variant may induce abnormal splicing. This in silico analysis predicted that the [IVS8 +82A > G; 85-86 insC] could alter the splicing by disrupting and/or creating exonic splicing enhancer motifs. Conclusions We here identified two RET variants that were associated with phenotype variability in G533C-carriers, which highlights the fact that the modifier effect of a variant might depend on the type of mutation.

Promoting health in families of children with type 1 diabetes mellitus

This paper presents a study of families of children with type 1 diabetes mellitus, emphasizing the identification of social supports and networks to strengthen interventions aimed at health promotion. The approach selected was a qualitative research, using a case study design. Four families of children with diabetes type 1 were studied, totalling seven participants. Data were collected between April and June 2007, through in-depth interviews and the construction of a genogram and an ecomap. The results presented the families` characterization and testimonies grouped in the following categories: social support, social networks and family roles. To promote care in practice, there is a need to identify the characteristics of each family and resources available that provide better living conditions. We concluded that identifying supports and social networks allows for more personalized care delivery to each family with a view to health promotion.

Assessing deaf and hearing children`s communication in Brazil

In Brazil there are no specific tests for either signed or spoken language for deaf children. A protocol evaluating communicative abilities independent of modality of communication (sign language or spoken language), and comprising assessments of (a) pragmatic profile; (b) modality of communication and linguistic level; (c) complexity of communication; and (d) style and efficacy of communication between parent and child was administered to 127 deaf and hearing children. The children, aged 3-6 years old, were distributed in three groups: 20 with severe hearing loss, 40 with profound hearing loss and 67 normally hearing. Deaf children were found to be delayed, independent of their linguistic level and preferred modality of communication. The protocol in this study proved to be an useful instrument for gathering relevant information about the three groups of preschool children`s communicative abilities, and particularly suitable for use in countries where standardized assessments are not available. Learning outcomes: The reader will be introduced to the use of an assessment protocol comprising its development, application and data analysis. The reader will be informed about assessment of deaf children`s preferred modality of communication, by the participation of a bilingual (sign language user) professional. Communication abilities can be assessed independently of the linguistic modality. In developing countries in general, where simple and easy to administer assessments tools are scarce, such a protocol is of specific value. (c) 2010 Elsevier Inc. All rights reserved.

Relational learning in children with deafness and cochlear implants

This four-experiment series sought to evaluate the potential of children with neurosensory deafness and cochlear implants to exhibit auditory-visual and visual-visual stimulus equivalence relations within a matching-to-sample format. Twelve children who became deaf prior to acquiring language (prelingual) and four who became deaf afterwards (postlingual) were studied. All children learned auditory-visual conditional discriminations and nearly all showed emergent equivalence relations. Naming tests, conducted with a subset of the: children, showed no consistent relationship to the equivalence-test outcomes.. This study makes several contributions: to the literature on stimulus equivalence. First; it demonstrates that both pre- and postlingually deaf children-can: acquire auditory-visual equivalence-relations after cochlear implantation, thus demonstrating symbolic functioning. Second, it directs attention to a population that may be especially interesting for researchers seeking to analyze the relationship. between speaker and listener repertoires. Third, it demonstrates the feasibility of conducting experimental studies of stimulus control processes within the limitations of a hospital, which these children must visit routinely for the maintenance of their cochlear implants.

Auditory Neuropathy/Auditory Dyssynchrony in children with Cochlear Implants

The electrical stimulation generated by the Cochlear Implant (CI) may improve the neural synchrony and hence contribute to the development of auditory skills in patients with Auditory Neuropathy / Auditory Dyssynchrony (AN/AD). Aim: Prospective cohort cross-sectional study to evaluate the auditory performance and the characteristics of the electrically evoked compound action potential (ECAP) in 18 children with AN/AD and cochlear implants. Material and methods: The auditory perception was evaluated by sound field thresholds and speech perception tests. To evaluate ECAP`s characteristics, the threshold and amplitude of neural response were evaluated at 80Hz and 35Hz. Results: No significant statistical difference was found concerning the development of auditory skills. The ECAP`s characteristics differences at 80 and 35Hz stimulation rate were also not statistically significant. Conclusion: The CI was seen as an efficient resource to develop auditory skills in 94% of the AN/AD patients studied. The auditory perception benefits and the possibility to measure ECAP showed that the electrical stimulation could compensate for the neural dyssynchrony caused by the AN/AD. However, a unique clinical procedure cannot be proposed at this point. Therefore, a careful and complete evaluation of each AN/AD patient before recommending a Cochlear Implant is advised. Clinical Trials: NCT01023932

Operant measurement of auditory threshold in prelingually deaf users of cochlear implants: II

Two experiments evaluated an operant procedure for establishing stimulus control using auditory and electrical stimuli as a baseline for measuring the electrical current threshold of electrodes implanted in the cochlea. Twenty-one prelingually deaf children, users of cochlear implants, learned a Go/No Go auditory discrimination task (i.e., pressing a button in the presence of the stimulus but not in its absence). When the simple discrimination baseline became stable, the electrical current was manipulated in descending and ascending series according to an adapted staircase method. Thresholds were determined for three electrodes, one in each location in the cochlea (basal, medial, and apical). Stimulus control was maintained within a certain range of decreasing electrical current but was eventually disrupted. Increasing the current recovered stimulus control, thus allowing the determination of a range of electrical currents that could be defined as the threshold. The present study demonstrated the feasibility of the operant procedure combined with a psychophysical method for threshold assessment, thus contributing to the routine fitting and maintenance of cochlear implants within the limitations of a hospital setting.

Family Environment and Pediatric Major Depressive Disorder

Background: The risks for depression broadly include biological and environmental factors. Furthermore, having a family member suffering from major depression is also likely to have consequences for the family environment. Further research aimed at understanding the effects of having a child with major depression on family interaction patterns is warranted. Methods: We studied 31 families with an 8- to 17-year-old child (mean age +/- SD = 12.9 +/- 2.7 years) who met the DSM-IV criteria for major depressive disorder (MDD) and 34 families with no mentally ill children (mean age 8 SD = 12.6 +/- 2.9 years) or parents. Children and their parents were assessed with the K-SADS-PL (Kiddie Schedule for Affective Disorders and Schizophrenia - Present and Lifetime Version) interview. Parents completed the Moos Family Environment Scale (FES) to assess their perceptions of current family functioning. Data were analyzed using the nonparametric Wilcoxon-Mann-Whitney test. Results: Families of MDD children showed significantly different patterns of family functioning on FES subscales representing relationships and personal growth dimensions. The families with MDD children showed higher levels of conflict (p < 0.001) and lower levels of cohesion (p < 0.001), expressiveness (p = 0.003) and active-recreational orientation (p = 0.02) compared to the families without mentally ill children. Conclusion: Families with MDD children show a lower degree of commitment, provide less support to one another, provide less encouragement to express feelings and have more conflicts compared to families with no mentally ill children or parents. Interventions aimed at improving family dynamics may be beneficial to MDD children and their families. Copyright (C) 2010 S. Karger AG, Basel

Importance of psychological intervention for the recovery of children submitted to elective surgery

Purpose: The effects of anxiety on the patient and his/her family are known to be the main factors that influence health recovery in child surgery. When the whole family can be prepared and supported by psychologic intervention, the damage to child behavior and family anxiety is attenuated. Methods: This study was conducted in children between 2 and 6 years old, divided into 2 groups of 10 pairs each. The experimental group received psychologic intervention, whereas the control group did not. One month after the surgery, they were reevaluated and compared with the same instruments used in the beginning of the study. The instruments used were as follows: the State-Trait Anxiety Inventory with the mothers and the Rutter`s Child Behavior A2 Scale and the Posthospital Behavior Questionnaire with the children. Results: The results were compared by the Wilcoxon and Mann-Whitney nonparametric tests for independent samples, both at the P <.05 significance levels. Mothers stated that anxiety was different in the postsurgery period, showing a significant decrease when comparing the experimental and control groups. Both instruments to measure child behavior also showed that prepared children had less habit changes than the control group, which showed increased levels of inadequate behavior. Conclusions: These data confirm reports in literature regarding child preparation before medical intervention and reinforces the importance of specialized presurgery planning procedures by the proper professional interfaced with the surgical colleagues, all aiming toward the best recovery for the children. (C) 2009 Elsevier Inc. All rights reserved.

Saethre-Chotzen Syndrome, Pro136His TWIST Mutation, Hearing Loss, and External and Middle Ear Structural Anomalies: Report on a Brazilian Family

Objective: To describe the clinical, speech, hearing, and imaging findings in three members of a Brazilian family with Saethre-Chotzen syndrome (SCS) who presented some unusual characteristics within the spectrum of the syndrome. Design: Clinical evaluation was performed by a multidisciplinary team. Direct sequencing of the polymerase chain reaction amplified coding region of the TWIST1 gene, routine and electrophysiological hearing evaluation, speech evaluation, and imaging studies through computed tomography (CT) scan and magnetic resonance imaging (MRI) were performed. Results: TWIST1 gene analysis revealed a Pro136His mutation in all patients. Hearing evaluation showed peripherial and mixed hearing loss in two of the patients, one of them with severe unilateral microtia. Computed tomography scan showed structural middle ear anomalies, and MRI showed distortion of the skull contour as well as some of the brain structures. Conclusions: We report a previously undescribed TWIST1 gene mutation in patients with SCS. There is evidence that indicates hearing loss (conductive and mixed) can be related both with middle ear (microtia, high jugular bulb, and enlarged vestibules) as well as with brain stem anomalies. Here we discuss the relationship between the gene mutation and the clinical, imaging, speech, and hearing findings.

Some factors associated with dental caries in the primary dentition of children with Down syndrome

Aim It is well reported in the scientific literature that there is a high level of periodontal disease and lower caries prevalence in Down Syndrome (DS) individuals, when compared with age-matched non DS individuals. This study was conducted to investigate the process of dental caries in DS children. Materials and methods In this study the following parameters were considered: oral hygiene habits, levels of Streptococcus mutans (SM) and Lactobacillus spp. (LB), Modified Gingival Index (MGI), and Simplified Oral Hygiene Index (OHI-S). A case group with DS children (n=69) and a control group of non DS children (n=69) were formed to perform this study Dental caries severity was determined using the DMFT index. Samples of non-stimulated saliva were collected to determine the Lactobacillus spp levels. For SM levels, MSB agar plates were used. Results The findings revealed that the case group attended, dental check-ups more frequently brushed their teeth more times per day, flossed less, and also more frequently had SM levels classified as ""high count"". The MGI was higher and the OHI-S was lower than the control group (p<0.001). Conclusion No significant differences were found between the DMFT indexes of children from the two groups (p=0.345). The logistic regression analysis showed that in the case group, age, MGI, and SM count were positively related to dental caries (p<0.05).

Caracterização do jogo simbólico em deficientes auditivos: estudo de casos e controles

TEMA: crianças deficientes auditivas não adquirem linguagem no mesmo período e velocidade de uma criança normo-ouvinte, pois o aprendizado da linguagem oral é um evento essencialmente auditivo. O desenvolvimento da criança consiste na aquisição progressiva de habilidades motoras e psicocognitivas, e a entrada no mundo simbólico é fator preponderante para que a criança possa atingir os níveis de maior complexidade no domínio da linguagem. OBJETIVO: relacionar o jogo simbólico e aspectos do desenvolvimento infantil em crianças deficientes auditivas com seus pares ouvintes. MÉTODO: 32 crianças, de ambos os sexos, de 2 a 6 anos de idade, pareadas por idade, foram submetidas à Avaliação da Maturidade Simbólica e ao Teste de Triagem do Desenvolvimento de Denver II, sendo 16 deficientes auditivas neurossensorial de grau moderado a profundo (grupo pesquisa - GP) e 16 normo-ouvintes (grupo controle - GC). RESULTADOS: observou-se simbolismo na brincadeira de 81,25% do GP, enquanto que no GC isto ocorreu em 87,5%. No Teste de Denver II 100% do GP foi classificado como risco, e o GC apresentou 94% de crianças normais e 6% de risco (p < 0,001). CONCLUSÃO: observou-se desempenho semelhante nos dois grupos quanto ao jogo simbólico. Entretanto, numa análise qualitativa, o GP apresentou brincadeiras menos complexas que o GC. Observou-se que o GP apresentou desempenho no jogo simbólico compatível ao seu desempenho nos aspectos pessoal-social, motor fino-adaptativo e motor grosseiro do Teste de Denver II.

Estudo longitudinal da compreensão verbal de crianças usuárias de implante coclear

OBJETIVO: analisar a compreensão verbal de crianças surdas usuárias de implante coclear (IC) por meio de um estudo longitudinal. MÉTODOS: os participantes foram nove crianças surdas usuárias de IC. A idade cronológica das crianças variou entre quatro e oito anos e o tempo de uso do IC foi, em média, 1 ano e 6 meses na 1ª avaliação, 3 anos e 7 meses na 2ª avaliação e 4 anos e 9 meses na 3ª avaliação. As crianças foram avaliadas longitudinalmente por meio da Escala de Compreensão Verbal da RDLS. Os materiais usados foram brinquedos, objetos e figuras. Os dados foram analisados qualitativa e quantitativamente. RESULTADOS: os resultados mostraram que as crianças implantadas obtiveram uma evolução estatisticamente significante em relação às habilidades de linguagem receptiva. CONCLUSÃO: o estudo comprova a efetividade do IC para o desenvolvimento da compreensão verbal.

Medidas operantes de limiar auditivo em crianças com surdez pré-lingual, usuárias de implante coclear

Limiares auditivos de crianças surdas pré-linguais usuárias de implante coclear foram avaliados com estimulação elétrica em um dos eletrodos mediais. A avaliação empregou um procedimento operante do tipo go/no go para ensinar uma discriminação simples, evidenciada por uma resposta motora, entre presença e ausência do estímulo auditivo. Estabelecida a linha de base, a manipulação na intensidade do estímulo foi implementada de acordo com o método psicofísico de escada modificado, começando por uma seqüência descendente. Os sete participantes do estudo mostraram perda da precisão no responder sob controle do estímulo quando a intensidade diminuía além de um certo valor e a precisão era recuperada quando a intensidade era novamente aumentada, o que permitiu a identificação de limiares individuais. Os resultados sugerem que o método psicofísico combinado com o procedimento operante pode ser uma alternativa viável para avaliar limiar auditivo de pessoas sem linguagem em situação clínica de regulagem do implante coclear.