[Use of neurodevelopmental disorder screening tool in primary care : A multicenter observational study]. / Utilisation en soins primaires d'un outil de repérage des troubles du neurodéveloppement : étude multicentrique observationnelle.

INTRODUCTION: Neurodevelopmental disorders (NDD) affect 5 to 15% of the population. Improved management largely depends on early detection in primary care. A screening tool was developed by an expert consensus and its use has been recommended since 2019. This tool has never been evaluated to date. The aim of this study was to investigate the prevalence and factors associated with the identification of neurodevelopmental disorders in primary care in children aged 6 months to 5 years. METHOD: This work is a multicentric observational study carried out in general practice in two regions of France: Île-de-France and Auvergne-Rhône-Alpes. A multivariate analysis was performed to identify the factors associated with the presence of abnormal signs on the grid. RESULTS: Five hundred and sixty-four (564) children aged 6 months to 4 years were included. The prevalence of children identified on the grid was 3.9%. The factors associated with the neurodevelopmental disorders identified in multivariate analysis were: low socio-professional status of the mother, male gender and parental concern about the child's neurodevelopment. Factors associated with identifying a developmental trajectory gap were male gender (OR = 2.10 (1.22-3.62)) and low socio-professional status of the mother (OR = 2.23 [1.05-4.70]). CONCLUSION: This original work allowed us to carry out first-line testing of a tool for the identification of NDD in primary care and to evaluate the prevalence of identification of these disorders. A complementary cohort study will be necessary to evaluate the sensitivity and specificity of this identification tool.

Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis.

OBJECTIVE: To define imaging patterns of unilateral cerebellar hypoplasia (UCH), discuss possible pathophysiological mechanisms and underline the etiology and prognosis associated with these lesions. METHODS: In this retrospective study we reviewed the charts of 26 fetuses diagnosed between 2003 and 2011 with UCH, defined by asymmetrical cerebellar hemispheres with or without decreased transverse cerebellar diameter. The review included analysis of the anatomy of the cerebellar hemispheres, including foliation, borders and parenchymal echogenicity, and of the severity of the hypoplasia. Data from clinical and biological work-up and follow-up were obtained. RESULTS: Our series could be divided into two groups according to whether imaging features changed progressively or remained constant during follow-up. In Group 1 (n = 8), the progression of imaging features, echogenic cerebellar changes and/or hyposignal in T2*-weighted MR images were highly suggestive of ischemic/hemorrhagic insult. In Group 2 (n = 18), imaging features remained constant during follow-up; UCH was associated with abnormal foliation in three proven cases of clastic lesions, a cystic lesion was noted in three cases of PHACE (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac abnormalities/aortic coarctation, eye abnormalities) syndrome and, in the remaining cases, UCH remained unchanged, with no imaging pattern typical of hemorrhage. In 24 cases the infant was liveborn and follow-up was continued in 23, for a mean period of 3 years. Among these, neurological complications were identified in seven (in one of seven (at a mean of 46 months) in Group 1 and in six of 16 (at a mean of 35 months) in Group 2). The surface loss of cerebellar hemisphere was > 50% in 19/24 fetuses and the vermis was clearly normal in appearance in 19/24. Predisposing factors for fetal vascular insult were identified in eight cases: these included maternal alcohol addiction, diabetes mellitus, congenital cytomegalovirus infection and pathological placenta with thrombotic vasculopathy and infarctions. CONCLUSION: UCH is defined as a focal lesion of the cerebellum that may be secondary to hemorrhage and/or ischemic insult, suggesting a clastic origin, particularly when imaging follow-up reveals changes over time. UCH may also be a clue for the prenatal diagnosis of PHACE syndrome. The amount of surface loss of cerebellar hemisphere does not correlate with poor prognosis. UCH with normal vermis is often associated with normal outcome.

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic forms such as X-linked lissencephaly with abnormal genitalia (XLAG), Partington syndrome and X-linked infantile spasm. The most common causative mutation, a duplication of 24 bp, was found in families with a variety of phenotypes, but not in the more severe XLAG phenotypes. The aim of the study was to access the frequency of ARX mutations in families with established or putative X-linked mental retardation (XLMR) collected by the European XLMR Consortium. We screened the entire coding region of ARX for mutations in 197 novel XLMR families by denaturing high-performance liquid chromatography, and we identified eight mutations (six c.428_451dup24, one insertion and one novel missense mutation p.P38S). To better define the prevalence of ARX mutations, we included previously reported results of 157 XLMR families. Together, these data showed the relatively high rate (9.5%) of ARX mutations in X-linked MR families and an expectedly low rate in families with affected brother pairs (2.2%). This study confirms that the frequency of ARX mutations is high in XLMR, and the analysis of ARX in MRX should not be limited to duplication.

[Neonatal cervical cord compression by a staphylococcal abscess]. / Compression médullaire cervicale néonatale par abcès staphylococcique.

In a small for date premature newborn infant, septicemia caused by Staphylococcus aureus was observed on day 16. In spite of an appropriate antimicrobial therapy, proteins of inflammation serum levels remained elevated for 2 weeks. The occurrence of cervical cord compression which could be related to a staphylococcal abscess explained the persisting inflammatory process. After puncturing of the abscess, immobilization and prolonged antibiotic treatment, outcome was favorable. This case demonstrates the difficulty of preventing abscesses related to staphylococcal septicemias and reports a very unusual site of abscess which could be well localized using MRI.