2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay.

The 2q3 duplication and 4q3 deletion syndromes are two conditions with variable phenotypes including Pierre-Robin sequence (PRS), limb anomalies, congenital heart defects (CHD), developmental delays and intellectual disabilities. We describe a patient born to a mother with a balanced t(2; 4) translocation who combines both a 2q34-qter duplication and a 4q34.2-qter deletion through inheritance of the derivative chromosome 4 (der(4)). He showed developmental delay, growth retardation, hearing problems, minor facial and non-facial anomalies, such as bilateral fifth finger shortness and clinodactyly, but no PRS or CHD. The comparison of his features with those of 46 and 65 published cases of 2q3 duplication and 4q3 deletion, respectively, allows us to further restrict the size of the proposed critical intervals for PRS and CHD on chromosome 4.

Families with Children with Autism, Developmental Delay, and Typical Development: The Relationships of Parenting Self-Efficacy, Parenting Strategies, and Child Problem Behaviour

Parents of children with autism spectrum disorders (ASD) and developmental delays (DD) may experience more child problem behaviours, report lower parenting selfefficacy (PSE), and be more reactive than proactive in their parenting strategies than those who have children with typical development (TD). Differences in PSE and parenting strategies may also influence the extent to which child problem behaviours are experienced by parents who have children with ASD and DD, compared to those who have children with TD. Using a convenience sample of parents of children with ASD (n = 48), DD (n = 51), and TD (n = 72), this study examined group differences on three key variables: PSE, parenting strategies, and child problem behaviour. Results indicated that those in the DD group scored lower on PSE in preventing child problem behaviour than the ASD group. The TD group used fewer reactive strategies than the DD group, and fewer proactive strategies than both the ASD and DD groups. For the overall sample, higher reactive strategies use was found to predict higher ratings of child problem behaviour, while a greater proportion of proactive to reactive strategies use predicted lower ratings of child problem behaviour. PSE was found to moderate DD diagnosis and child problem behaviour. Implications for a behavioural (i.e., parenting strategies) or cognitive (i.e., PSE) approach to parenting are discussed.

Growth and developmental outcomes of the extremely preterm infant

Objetive: To provide information for pediatricians and neonatologists to create realistic outcome expectations and thus help plan their actions. Sources of data: Searches were made of the Cochrane Library, MEDLINE, and Lilacs databases. Summary of the findings: The assessment of growth and development over the first 2-3 years must adjust chronological age with respect of the degree of prematurity. There is special concern regarding the prognoses of small for gestational age preterm infants, and for those with bronchopulmonary dysplasia. Attention must be directed towards improving the nutrition of extremely low birth weight infants during their first years of life; these infants have high prevalence levels of failure to catch-up on growth, diseases and rehospitalizations during their first 2 years. They are frequently underweight and shorter than expected during early childhood, but delayed catch-up growth may occur between 8 and 14 years. Extremely low birth weight infants are at increased risk of neurological abnormalities and developmental delays during their first years of life. Educational, psychological, and behavioral problems are frequent during school years. Teenage and adult outcomes show that although some performance differences persist, social integration is not impaired. Conclusions: The growth and neurodevelopment of all ELBW infants must be carefully monitored after discharge, to ensure that children and their families receive adequate support and intervention to optimize prognoses. Copyright © 2005 by Sociedade Brasileira de Pediatria.

Medical Provider Guide for Developmental Surveillance and Screening, July 2010

All children receive surveillance at every well-child visit, as recommended by the American Academy of Pediatrics (AAP), to recognize those who may be at risk for developmental delays. This includes assessing caregiver stress and depression and social-emotional development.

Effects of Prepartum Ingestion of Ipomoea carnea on Postpartum Maternal and Neonate Behavior in Goats

Ipomoea carnea is a toxic plant that grows in tropical areas, and is readily consumed by grazing goats. The plant contains the alkaloids swainsonine and calystegines, which inhibit cellular enzymes and cause systematic cell death. This study evaluated the behavioral effects on dams and kids of prenatal ingestion of this plant. Freshly harvested leaves of I. carnea (10 g/kg body weight) were fed daily to nine pregnant goats from the fifth to the 16th week of gestation; five pregnant goats were controls. Dam and kid behavior were evaluated during 2-hr postpartum. Further evaluation of the offspring was performed using various tests after birth: (1) reaching and discriminating their dam from an alien doe (two tests at 12-hr postpartum), and (2) navigating a progressive maze (2, 4, and 6 days postpartum). Postnatal (n=2) and fetal (n=2) mortality were observed in the treated group. Intoxicated kids had difficulty in standing at birth, and only one was able to suckle within 2 hr of birth. Treated kids were slower than controls to arrive at their dam in the discrimination test; treated kids often (seven of nine completed tests) incorrectly chose the alien dam (controls: 0/10 tests). During some runs on days 2, 4, and 6 postpartum, treated kids were slower to leave the starting point of the maze, and were slower to arrive at the dam on all test days. This study suggests that the offspring of pregnant goats given I. carnea during gestation have significant behavioral alterations and developmental delays. Birth Defects Res (Part B) 92:131-138, 2011. (C) 2011 Wiley-Liss, Inc.

Paid employment of mothers and fathers of an adult child with multiple disabilities

Background Paid employment is increasingly undertaken by mothers as their children age, with the majority of women being in employment by the time their offspring are adult. Opportunities to engage in employment appear to be reduced for mothers of children with disabilities; however, little is known about the employment of mothers or fathers of adults with disabilities. Method Data were collected regarding the employment decisions of parents of a young adult with multiple disabilities and contrasted with those of parents whose children were all developing normally. Twenty-five mothers and 12 fathers of a young adult with multiple disabilities were interviewed, as were 25 comparison mothers and 19 comparison fathers. Data collected included hours of work, reasons for employment status, attitudes towards work and child care, and psychological well-being. Results Clear differences were found between the two groups. Mothers and fathers of a child with multiple disabilities showed different engagement patterns with the paid workforce from comparison parents. Hours of work for fathers of a young adult with multiple disabilities showed a bi-modal distribution, with some fathers working fewer hours than usual and others working very long hours. For mothers in both groups, the number of hours in paid employment was negatively associated with reports of psychological problems. Conclusions Increased attention needs to be given to the employment opportunities of parents of children with disabilities since employment appears to play a protective role for mothers, in particular. Services provided to adults with disabilities will need to change if parents are to have the same life chances as parents without adult offspring with a disability.

Contributo do iPad® para o desenvolvimento de crianças com necessidades educativas especiais

Dissertação apresentada à Escola Superior de Educação de Lisboa para obtenção do grau de Mestre em Ciências da Educação, Especialidade Intervenção Precoce

Psychological well-being of the parents and child development, behavior, and quality of life in very low birth weight infants

The parents of premature infants, especially the mothers, are at increased risk for distress. Infants born prematurely are at risk for developmental problems. The aim of this study was to investigate whether the psychological well-being of both parents is associated with child development in very low birth weight (VLBW, ≤1500g) children. The burden of prematurity-related morbidity to the children and to the family was also assessed. A cohort of 201 VLBW infants born during 2001–2006 in the Turku University Hospital, Finland, and their parents were studied (I–IV). One study included a control group (n=166) of full-term infants (IV). The psychological well-being of the parents was evaluated by assessments of depressive symptoms, parenting stress, the sense of coherence and general family functioning. Cognitive, behavioral, and socio-emotional development, and the health-related quality of life (HRQoL) of the children were determined when the children were 2 to 8 years old. The psychological well-being of the parents was associated with the cognitive, behavioral and social development of the VLBW children. The VLBW infants with prematurity-related morbidities had a poorer HRQoL and the general functioning of the family was inferior compared to the control children and their families. 64.5% of the VLBW children survived without morbidities. Most of the VLBW children did not have significant behavior problems (93%), had normal social skills (63%), had no emotional problems (64%), and had no problems in executive functioning (62%). Only 3% of the surviving VLBW infants had significant cognitive delay. In conclusion, the depressive symptoms and stress of the parents can be risk factors for disadvantageous child development, while a strong sense of coherence can be protective. Parents of the premature children with developmental delays might also experience more depressive symptoms and stress than other parents. Prematurity-related morbidities were a burden to the VLBW child as well as to the family.

Uso de la Hibridación Genómica Comparativa-Array (HGC-a) en pacientes con retraso global del desarrollo y fenotipo particular. Revisión sistemática de la literatura

Introducción: la hibridación genómica comparativa en una técnica que permite la exploración de las anormalidades cromosómicas. Su utilidad en la aproximación de los pacientes con retraso global del desarrollo o fenotipo dismórfico, sin embargo, no ha sido explorada mediante una revisión sistemática de la literatura. Metodología: realizó una revisión sistemática de la literatura. Se incluyeron estudios controlados, cuasi-experimentales, de cohortes, de casos y controles, transversales y descriptivos publicados en idiomas inglés y español entre los años 2000 y 2013. Se realizó un análisis de la evidencia con un enfoque cualitativo y cuantitativo. Se realizó un análisis del riesgo de sesgo de los estudios incluidos. Resultados: se incluyeron 4 estudios que cumplieron con los criterios de inclusión. La prevalencia de alteraciones cromosómicas en los niños con retraso global del desarrollo fue de entre el 6 y 13%. El uso de la técnica permitió identificar alteraciones que no fueron detectadas mediante el cariotipo. Conclusiones: la hibridación genómica comparativa es una técnica útil en la aproximación diagnóstica de los niños con retraso global del desarrollo y del fenotipo dismórfico y permite una mayor detección de alteraciones comparada con el cariotipo.

Efeitos da inclinação da esteira na marcha de crianças com síndrome de down

Background: Down syndrome (DS) is a genetic alteration characterized by being a nonprogressive congenital encephalopathy. Children with DS have hypotonia and developmental delays that interfere in the movement`s acquisition for these children. Objective: Analyze the effects of treadmill inclination on angle and spatiotemporal gait characteristics of these individuals. Methodology: We studied 23 subjects of both sexes, with ages ranged between 05 and 11 years, they presented ability to walk on level 5 classified according to the Functional Ambulation Category (FAC). Initially held a subjective evaluation of balance through a questionnaire (Berg Balance Scale-BBS) then the kinematic gait analysis was realized on a treadmill first, without inclination and then, with inclination of 10%, using the motion system analysis Qualisys System. Data analysis was done using BioStat 5.0 attributing significance level of 5%. Normality of data was verified using D'Agostino test and later was applied paired t-test to compare data in two experimental conditions. Results: There was a statistically significant difference in the spatiotemporal variables: reduction in the cadence (from 108.92 ± 39.07 to 99.11 ± 27.51, p <0.04), increase in cycle time (from 1.24 ± 0.27 to 1.36 ± 0.34, p = 0.03 ) and increase in time to take stock (from 0.77 ± 0.15 to 0.82 ± 0.18, p <0.001). Angular variables that showed statistically significant increasing were: the hip in the initial contact (12.23 ± 4.63 to 18.49 ± 5.17, p <0.0001) and max. flexion in balance (12.96±4:32 to 19.50 ± 4.51, p <0.0001 ), knee in the initial contact (15.59 to ± 6.71 to 21.63 ± 6.48, p <0.0001), the ankle in the initial contact (-2.79 ± 9.8 to 2.25 ± 8.79, p <0.0001), max dorsiflexion in stance (4.41 ± 10.07 to 7.13 ± 11.58, p <0.0009), maximum plantar flexion in the pre-assessment of the ankle joint (increase of -6.33 ± 8.77 to -2.69 ± 8.62, p <0.0004).Conclusions: The inclination acts in a positive way for angular and spatiotemporal features gait of children with Down syndrome, demonstrating possible benefit of using this surface in the gait rehabilitation of children with Down Syndrome

Diretividade materna e socialização de crianças com atraso de desenvolvimento

Diretividade materna é, com freqüência, descrita como conceito uniforme na literatura e tem gerado inúmeras discussões quanto às suas implicações no desenvolvimento infantil. Este trabalho objetiva verificar a presença de comportamentos diretivos em mães de crianças com atraso de desenvolvimento e o significado que esta variável assume no processo interativo. Foram observadas quatro díades mãe e criança em situações de rotina diária e de brinquedo livre, por um período de doze meses. Os resultados revelaram que, de modo geral, as mães se mostraram diretivas, no entanto, identificou-se diferenças individuais nos padrões de diretividade. As crianças demonstraram níveis crescentes de oposição, evidenciando alguns picos em torno dos 24 meses. Conclui-se então que a diretividade pode ser uma variável que promove o desenvolvimento infantil dependendo do significado que assume na relação mãe-criança, mas não deve ser a única dimensão determinadora da qualidade do estilo interativo materno.

Interferentes bio-sócio-ambientais na exposição ao mercúrio em crianças ribeirinhas de diferentes regiões da Amazônia

No presente estudo foram analisados possíveis fatores bio-sócio-ambientais interferentes na exposição ao mercúrio em crianças ribeirinhas. Participaram 103 crianças das regiões do rio Tapajós, rio Acará e ilha do Marajó. O tipo de estudo foi seccional analítico. Foram colhidas amostras de cabelo para análise dos teores de Hgtotal, de sangue (análise de hemoglobina e hematócrito) e fezes. Foram utilizados índices antropométricos na análise do crescimento das crianças. Na avaliação do desenvolvimento neuropsicomotor foi aplicado o teste de triagem Denver II modificado. A maior média dos teores de Hgtotal em amostras de cabelo das crianças foi na região do Tapajós (5,58 μg/g) e 0,65 μg/g nas demais localidades. A prevalência de Hgtotal >10 μg/g foi 25% e 7,5% em São Luiz do Tapajós e Barreira. O consumo diário de peixes pelas famílias das crianças quando relacionado com teores de Hgtotal p(valor) foi < 0,05. A prevalência do tempo de amamentação das crianças nos grupos com menos de 12 meses e maior de 6 meses para as localidades do rio Tapajós, quando relacionadas com teores de Hgtotal no cabelo das crianças apresentou p(valor) <0,05. A prevalência de anemia nas crianças da região Tapajós era de 46,7% e quando relacionada com teores de Hgtotal p(valor) <0,0001.Os exames coproscópicos indicaram que 68,3% eram poliparasitadas, quando relacionadas com Hgtotal p(valor) <0,05. O perfil do crescimento observado através dos indicadores do estado nutricional era 82,6% com peso adequado para idade e 14,5% com peso muito baixo e baixo. O desempenho neuropsicomotor examinado pelo teste de triagem Denver II modificado apresentou cinco crianças como suspeitas de atraso no desenvolvimento. Concluiu-se que localidades no entorno de atividades garimpeira as crianças ribeirinhas são expostas ao risco de contaminação mercurial. Fatores bio-sócio-ambientais interferentes na exposição ao mercúrio tais como consumo diário de peixes, tempo de amamentação, anemia, enteroparasitoses apresentaram relações estatísticas significativas com o Hgtotal no cabelo das crianças.

The intrinsic growth rate as a predictor of population viability under climate warming

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Effects of Temperature on Intraspecific Competition in Ectotherms

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Holocarboxylase Synthetase-dependent Biotinylation of Histone H4

Holocarboxylase synthetase (HCS) catalyzes the binding of biotin to lysine (K) residues in histones H3 and H4. Histone biotinylation marks play important roles in the repression of genes and retrotransposons. Preliminary studies suggested that K16 in histone H4 is a target for biotinylation by HCS. Here we demonstrated that H4K16bio is overrepresented in repeat regions {pericentromeric alpha satellite repeats; long terminal repeats (LTR)} compared with euchromatin promoters. H4K16bio was also enriched in the repressed interleukin-2 gene promoter. The enrichment at LTR22 and promoter 1 of the sodium-dependent multivitamin transporter (SMVT) depended on biotin supply; and was significantly lower in fibroblasts from an HCS-deficient patient compared with an HCS wild-type control. We conclude that H4K16bio is a real phenomenon and plays a role in the transcriptional repression of repeats and genes. HCS catalyzes the covalent binding of biotin to carboxylases, in addition to its role as a histone biotinyl ligase. HCS null individuals are not viable whereas HCS deficiency is linked to developmental delays and phenotypes such as short life span and low stress resistance. Here, we developed a 96-well plate assay for high-throughput analysis of HCS based on the detection of biotinylated p67 using IRDye-streptavidin and infrared spectroscopy. We demonstrated that the catalytic activity of rHCS depends on temperature and time, and proposed optimal substrate and enzyme concentrations to ensure ideal measurement of rHCS activity and its kinetics. Additionally, we demonstrated that this assay is sensitive enough to detect biotinylation of p67 by endogenous HCS from Jurkat lymphoid cells.