Présentation de l'adaptation française de « l'échelle de coparentage » de McHale pour familles avec jeunes enfants [Presentation of the french adaptation of McHale's coparenting scale for families with young children.]

The aim of this paper is to present McHale's coparenting scale,a self-administered questionnaire enabling assessment of the quality of coparenting, and first steps in structural and construct validation of the French version. A total of 41 French speaking Swiss families and 84 US families completed this questionnaire and the Dyadic Adjustment Scale, a measure of marital satisfaction. The results of the Swiss families correspond to those of US families: first, items distributed into four factors (family integrity, conflict, affection and disparagement) and second, a partial link was found between quality of coparenting and marital adjustment. This finding supports the construct validity of the questionnaire, reflecting the established link between these two family sub-systems. Given that coparenting quality has a major influence on children's socio-affective development, the questionnaire will find great use in assessing not just negative features of coparenting, such as conflicts and disparagement, but also positive components such as warmth and support. This will be an important asset for research as well as clinical purposes.

Using group role-playing games with gifted children and adolescents: A psychosocial intervention model

Gifted children develop asynchronously, often advanced for their age cognitively, but at or between their chronological and mental ages socially and emotionally (Robinson, 2008). In order to help gifted children and adolescents develop and practice social and emotional self-regulation skills, we investigated the use of an Adlerian play therapy approach during pen-and-paper role-playing games. Additionally, we used Goffman's (1961, 1974) social role identification and distance to encourage participants to experiment with new identities. Herein, we propose a psychosocial model of interactions during role-playing games based on Goffman's theory and Adlerian play therapy techniques, and suggest that role-playing games are an effective way of intervening with gifted children and adolescents to improve their intra- and interpersonal skills. We specifically targeted intrapersonal skills of exercising creativity, becoming self-aware, and setting individual goals by raising participants' awareness of their privately logical reasons for making decisions and their levels of social interest. We also targeted their needs and means of seeking significance in the group to promote collaboration and interaction skills with other gifted peers through role analysis, embracement, and distancing. We report results from a case study and conclude that role-playing games deserve more attention, both from researchers and clinical practitioners, because they encourage change while improving young clients' social and emotional development.

Weight status and gender-related differences in motor skills and in child care - based physical activity in young children.

Over the last decades, a decline in motor skills and in physical activity and an increase in obesity has been observed in children. However, there is a lack of data in young children. We tested if differences in motor skills and in physical activity according to weight or gender were already present in 2- to 4-year-old children. Fifty-eight child care centers in the French part of Switzerland were randomly selected for the Youp'là bouge study. Motor skills were assessed by an obstacle course including 5 motor skills, derived from the Zurich Neuromotor Assessment test. Physical activity was measured with accelerometers (GT1M, Actigraph, Florida, USA) using age-adapted cut-offs. Weight status was assessed using the International Obesity Task Force criteria (healthy weight vs overweight) for body mass index (BMI). Of the 529 children (49% girls, 3.4 ± 0.6 years, BMI 16.2 ± 1.2 kg/m2), 13% were overweight. There were no significant weight status-related differences in the single skills of the obstacle course, but there was a trend (p = 0.059) for a lower performance of overweight children in the overall motor skills score. No significant weight status-related differences in child care-based physical activity were observed. No gender-related differences were found in the overall motor skills score, but boys performed better than girls in 2 of the 5 motor skills (p ≤ 0.04). Total physical activity as well as time spent in moderate-vigorous and in vigorous activity during child care were 12-25% higher and sedentary activity 5% lower in boys compared to girls (all p < 0.01). At this early age, there were no significant weight status- or gender-related differences in global motor skills. However, in accordance to data in older children, child care-based physical activity was higher in boys compared to girls. These results are important to consider when establishing physical activity recommendations or targeting health promotion interventions in young children.

Effect of a governmentally-led physical activity program on motor skills in young children attending child care centers: a cluster randomized controlled trial.

OBJECTIVE: To assess the effect of a governmentally-led center based child care physical activity program (Youp'la Bouge) on child motor skills.Patients and methods: We conducted a single blinded cluster randomized controlled trial in 58 Swiss child care centers. Centers were randomly selected and 1:1 assigned to a control or intervention group. The intervention lasted from September 2009 to June 2010 and included training of the educators, adaptation of the child care built environment, parental involvement and daily physical activity. Motor skill was the primary outcome and body mass index (BMI), physical activity and quality of life secondary outcomes. The intervention implementation was also assessed. RESULTS: At baseline, 648 children present on the motor test day were included (age 3.3 +/- 0.6, BMI 16.3 +/- 1.3 kg/m2, 13.2% overweight, 49% girls) and 313 received the intervention. Relative to children in the control group (n = 201), children in the intervention group (n = 187) showed no significant increase in motor skills (delta of mean change (95% confidence interval: -0.2 (-0.8 to 0.3), p = 0.43) or in any of the secondary outcomes. Not all child care centers implemented all the intervention components. Within the intervention group, several predictors were positively associated with trial outcomes: 1) free-access to a movement space and parental information session for motor skills 2) highly motivated and trained educators for BMI 3) free-access to a movement space and purchase of mobile equipment for physical activity (all p < 0.05). CONCLUSION: This "real-life" physical activity program in child care centers confirms the complexity of implementing an intervention outside a study setting and identified potentially relevant predictors that could improve future programs.Trial registration: Trial registration number: clinical trials.gov NCT00967460 http://clinicaltrials.gov/ct2/show/NCT00967460.

Les Contes du Monte-Cristo. Alexandre Dumas and His "Tales for Old and Young Children"

Between 1857 and 1859 Alexandre Dumas published eleven tales from the Brothers Grimm and Hans Christian Andersen's collections in his magazine Le Monte-Cristo. The texts have a particular status, between translation and rewriting. Dumas includes them in a causerie (chat) with the readers of his magazine, and they are framed in a story where an adult tells tales to children. This results in several modifications of the originals-such as the addition of explicative comments-which I study through a comparison of "Petit-Jean et Gros-Jean" and Andersen's "Little Claus and Big Claus." Underrated and forgotten, Dumas's tales are nonetheless representative of his particular style and bear witness to his storytelling skills. They also show similarities between Dumas and Andersen, who actually became acquainted in Paris in 1843.

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.

Autosomal recessive cutis laxa type I (ARCL type I) is characterized by generalized cutis laxa with pulmonary emphysema and/or vascular complications. Rarely, mutations can be identified in FBLN4 or FBLN5. Recently, LTBP4 mutations have been implicated in a similar phenotype. Studying FBLN4, FBLN5, and LTBP4 in 12 families with ARCL type I, we found bi-allelic FBLN5 mutations in two probands, whereas nine probands harbored biallelic mutations in LTBP4. FBLN5 and LTBP4 mutations cause a very similar phenotype associated with severe pulmonary emphysema, in the absence of vascular tortuosity or aneurysms. Gastrointestinal and genitourinary tract involvement seems to be more severe in patients with LTBP4 mutations. Functional studies showed that most premature termination mutations in LTBP4 result in severely reduced mRNA and protein levels. This correlated with increased transforming growth factor-beta (TGFβ) activity. However, one mutation, c.4127dupC, escaped nonsense-mediated decay. The corresponding mutant protein (p.Arg1377Alafs(*) 27) showed reduced colocalization with fibronectin, leading to an abnormal morphology of microfibrils in fibroblast cultures, while retaining normal TGFβ activity. We conclude that LTBP4 mutations cause disease through both loss of function and gain of function mechanisms.

Phenotype in Two Consanguineous Tunisian Families With non Syndromic Autosomic Recessive Retinitis Pigmentosa Caused by an USH2A Mutation

Purpose: To assess the clinical phenotype in two consanguineous Tunisian families with non syndromic autosomic recessive retinitis Pigmentosa (arRP) caused by an USH2A mutation.Methods: All accessible members of family A and B were included and underwent full ophthalmic examination with best corrected Snellen visual acuity, kinetic visual field testing, fundus photography, optical coherence tomography and full field electroretinography. Haplotype analyses were used to test linkage in the families to 20 arRP loci, including ABCA4, LRAT, USH2A, RP29, CERKL, CNGA1, CNGB1, CRB1, EYS, RP28, MERTK, NR2E3, PDE6A, PDE6B, RGR, RHO, RLBP1, TULP1. In addition, index patients were sent to AsperOphthalmics for arRP mutation screening.Results: Twenty three patients from the two families were ascertained for the study. Eight of the 23 members were clinically affected with arRP without hearing loss. Age range at baseline was 35 to 63 years (mean age was 46.5 years). For all affected members, night blindness appeared during the second decade. Visual acuity at baseline ranged from 20/50 to 20/32. Kinetic visual field was severely constricted. Fundus examination revealed typical RP changes with bone spicule-shaped pigment deposits in the mid periphery along with atrophy of the retina, narrowing of the vessels and waxy optic discs. Tomograms showed a thinning and even loss the outer nuclear layer of the fovea. ERG was unrecordable in scotopic conditions and the cone responses were markedly hypovolted. Haplotype analysis did not reveal any homozygosity. Screening at AsperOphthalmis showed a compound heterozygous [p.A1953G]+[p.I5126T] in family A and [p.G713R]+[p.W4149R] in family B.Conclusions: For these families, changes were typical of those that have been described in patients with moderate to severe forms of non syndromic recessive RP. Our findings support the need to consider possible involvement of USH2A not only in patients with Usher syndrome but also in patients with non syndromc arRP. Despite consanguinity, the presence of non-homozygous mutants illustrates the complexity of molecular analysis.

Cohesion, satisfaction with family bonds, and emotional well-being in families with adolescents

The present paper investigated whether higher cohesion and satisfaction with family bonds were associated with the daily experience of emotional well-being in varying social circumstances. Using a sample of school-age adolescents (N = 95) and both their parents, data were gathered daily over 1 week using a diary approach in addition to self-report instruments. Multilevel analyses revealed higher cohesion to be associated with well-being in fathers and adolescents, but not in mothers. Parents also reported higher well-being when with friends or colleagues than when alone. Moreover, fathers who scored higher on cohesion reported higher well-being when with family members than when alone, whereas adolescents who scored higher on satisfaction with bonds reported lower well-being when with peers or siblings than when alone.

PAX6 mutations in Egyptian families with aniridia

Methods Ten patients with aniridia from 3 families of Egyptian origin underwent full ophthalmologic, general and neurological examination, and blood drawing. Cerebral MRI was performed in the index case of each family. Genomic DNA was prepared from venous leukocytes and direct sequencing of all the exons and intron-exon junctions of the PAX6 gene was performed after PCR amplification. Results Common features observed in the three families included absence of iris tissue, corneal pannus with different degrees of severity and foveal hypoplasia with severely reduced visual acuity. In families 2 and 3, additional findings such as lens dislocation, lens opacities or polar cataract and glaucoma were observed. We identified two novel (c.170-174delTGGGC [p.L57fs17] and c.475delC [p.R159fs47]) and one known (c.718C>T) PAX6 mutations in the affected members of the 3 families. Systemic and neurological examination was normal in all ten affected patients. Cerebral MRI showed absence of the pineal gland in all three index patients. Severe hypoplasia of the brain anterior commissure was associated to the p.L57fs17mutation, absence of the posterior commissure to both p.R159fs47 and p.R240X, and optic chiasma atrophy and almost complete agenesis of the corpus callosum to p.R240X. Conclusions We identified two novel PAX6 mutations in families with severe aniridia from Northern Egypt, an ethnic group which is not well studied. In addition to common phenotype of aniridia and despite normal neurological examination, absence of the pineal gland was observed in all 3 index patients. The heterogeneity of brain anomalies related to PAX6 mutations is underexplored and is highlighted in this study.