Syndrome de Chediak-Higashi (CHS) (description de 3 cas chez des enfants réunionnais et synthèse bibliographique )

LYON1-BU Santé (693882101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome

Artículo Publicado en: BLOOD, 1 February 2000 * Volume 95, Number 3 © 2000 by The American Society of [email protected] monográfic

Study population.

<p>− : seronegative for CHIKV-specific IgM and IgG antibodies ; + : seropositive for CHIKV-specific IgG antibodies; M24: 24^th month, end of follow-up ; Unexposed - Uninfected and Exposed - Uninfected children were pooled as the Uninfected group (grey lozenge) and compared with Exposed - infected children as the Infected group (white lozenge) for RBL (Revised Brunet-Lézine) performance.</p

Revised Brunet-Lezine development quotient scores related to perinatal mother-to-child Chikungunya virus infection, CHIMERE cohort, Reunion Island, 2008.

<p>DQ: development quotient. DQ scores were measured between 15.8 and 27 months of age. Developmental delay is moderate if. ^†85≤DQ ≤70, severe if. ^‡DQ score <70.</p><p>Data are means and 95% confidence intervals. <i>P</i> values are given for Kruskal-Wallis or Fisher exact tests comparing the three groups:</p>##<p><i>P</i> value<0.01 for Fisher exact test comparing unexposed uninfected <i>versus</i> infected children:</p><p>**<i>P</i> value<0.01 for Fisher exact test comparing exposed uninfected <i>versus</i> infected children.</p

Neurocognitive outcomes related to the clinical presentation of perinatal mother-to-child Chikungunya virus infection, CHIMERE cohort, Reunion Island, 2008.

<p>DQ: development quotient. DQ scores were measured between 15.8 and 27 months of age. Developmental delay is moderate if. ^†85≤DQ ≤70, severe if. ^‡DQ score <70.</p><p>Data are means and 95% confidence intervals. <i>P</i> values are given for Kruskal-Wallis or Fisher exact tests comparing the three groups; Mann-Whitney or Fisher exact test comparing encephalopathic <i>versus</i> non encephalopathic children:</p>##<p><i>P</i> value<0.01;</p>#<p><i>P</i> value<0.05;</p><p>Mann-Whitney or Fisher exact test comparing non encephalopathic infected <i>versus</i> uninfected children:</p><p>**<i>P</i> value<0.01;</p><p>*<i>P</i> value<0.05.</p

Children characteristics related to perinatal mother-to-child Chikungunya virus infection, CHIMERE cohort, Reunion Island, 2008.

<p>Data are means, standard errors, numbers and percentages. <i>P</i> values are given for Kruskal-Wallis and Fisher exact tests comparing the three groups.</p>†<p>This propensity score is derived from maternal population (see table 2 of ref. <a href="http://www.plosntds.org/article/info:doi/10.1371/journal.pntd.0002996#pntd.0002996-Fritel1" target="_blank">[12]</a>) assigning positive or negative points to rounded-value beta coefficients associated with categories of maternal origin, education, marital status, parity and body mass index;</p>‡<p>gestational age <37 weeks;</p>#<p><10^th percentile of AUDIPOG network growth charts;</p><p>*corrected for 24 months postnatal age.</p

Two-year MRI scan features of CHIKV-related white matter injury in eight children with perinatal mother-to-child Chikungunya virus infection, CHIMERE cohort, Reunion Island, 2008.

<p>Age at neuropsychological evaluation (months); GDQ: global development quotient; HC:</p><p>*head circumference is corrected for 24 months of postnatal age;</p><p>SD: standard deviation; WM: white matter; NA: not assessed. Diffuse includes frontal plus two or more lobes; CC: <i>corpus callosum</i> ; OC: ovale centrum ; VC: ventricular crossroads.</p><p>↓NAA : reduction of N-acetyl-aspartate peak indicative of white matter hypometabolism or axonal loss;</p

Neurocognitive Outcome of Children Exposed to Perinatal Mother-to-Child Chikungunya Virus Infection: The CHIMERE Cohort Study on Reunion Island

International audienceBackgroundLittle is known about the neurocognitive outcome in children exposed to perinatal mother-to-child Chikungunya virus (p-CHIKV) infection.MethodsThe CHIMERE ambispective cohort study compared the neurocognitive function of 33 p-CHIKV-infected children (all but one enrolled retrospectively) at around two years of age with 135 uninfected peers (all enrolled prospectively). Psychomotor development was assessed using the revised Brunet-Lezine scale, examiners blinded to infectious status. Development quotients (DQ) with subscores covering movement/posture, coordination, language, sociability skills were calculated. Predictors of global neurodevelopmental delay (GND, DQ≤85), were investigated using multivariate Poisson regression modeling. Neuroradiologic follow-up using magnetic resonance imaging (MRI) scans was proposed for most of the children with severe forms.ResultsThe mean DQ score was 86.3 (95%CI: 81.0–91.5) in infected children compared to 100.2 (95%CI: 98.0–102.5) in uninfected peers (P<0.001). Fifty-one percent (n = 17) of infected children had a GND compared to 15% (n = 21) of uninfected children (P<0.001). Specific neurocognitive delays in p-CHIKV-infected children were as follows: coordination and language (57%), sociability (36%), movement/posture (27%). After adjustment for maternal social situation, small for gestational age, and head circumference, p-CHIKV infection was found associated with GND (incidence rate ratio: 2.79, 95%CI: 1.45–5.34). Further adjustments on gestational age or breastfeeding did not change the independent effect of CHIKV infection on neurocognitive outcome. The mean DQ of p-CHIKV-infected children was lower in severe encephalopathic children than in non-severe children (77.6 versus 91.2, P<0.001). Of the 12 cases of CHIKV neonatal encephalopathy, five developed a microcephaly (head circumference <−2 standard deviations) and four matched the definition of cerebral palsy. MRI scans showed severe restrictions of white matter areas, predominant in the frontal lobes in these children.ConclusionsThe neurocognitive outcome of children exposed to perinatal mother-to-child CHIKV infection is poor. Severe CHIKV neonatal encephalopathy is associated with an even poorer outcome