CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

International audienc

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual

Hémimégalencéphalie de diagnostic prénatal et son association à la Sclérose Tubéreuse de Bourneville : analyse de cas et revue de la littérature

LE KREMLIN-B.- PARIS 11-BU Méd (940432101) / SudocSudocFranceF

Les accidents vasculaires cérébraux chez l'enfant trisomique 21 (incidence, étiologies, conséquences, à propos d'un cas)

PARIS5-BU Méd.Cochin (751142101) / SudocPARIS-BIUM (751062103) / SudocCentre Technique Livre Ens. Sup. (774682301) / SudocSudocFranceF

[The Perruce decree, an opportunity to question the acceptance of a handicap and the relationship between physicians, justice and society]

The 'Perruche' decree (confirmed by the Paris Court of Cassation in November 2001) recognizes the right of those born with a handicap to claim for compensation. However, there is a fear that this decree might lead to deviations in the requests submitted for systematic compensation, simply because of a handicap or prejudice, even in the absence of a medical error. The interest of the 'Perruche' decree is that it once again raises the question of the management of handicapped people in our society and the lack of sufficient help from the State. The decree also emphasizes the strong subjacent risk that a handicap could be considered as a failure or a medical error. The excessive ideology of a 'perfect' child may therefore provoke the reject of the idea that a human being may be born with a deficiency or "imperfection". It also reminds us that medical practice remains exposed to errors and incertitude and that a zero risk does not exist, contrary to certain fantastical beliefs fostered by the principle of precaution. The hazard may correspond to the notion of incertitude. But it must not be confused with an error and it implies that which is unforeseeable. It is important that physicians stall the faith in the power of ultramodern techniques. Conversely, they should not claim a right to systematic error, when errors in fact hide authentic faults. The medical discourse must therefore remain responsible

[Changes in prenatal ultrasound practices after the Perruche decision and Law no. 2002-303 dated 4 March 2002]

OBJECTIVE: The aim of this study was to evaluate the effects of French law (court rulings in the Perruche decision and its progeny as well as the statute enacted on March 4, 2002 to reverse or moderate this jurisprudence) on physicians' prenatal diagnosis and fetal medicine practices. METHODS: We sent questionnaires to 186 physician-ultrasonographers in two French districts, inquiring about changes in their daily practice and their provision of information to and communication with the future parents, as well as their opinions about the future of their specialization. RESULTS: We received 54 responses (29%): 40% of respondents found it more difficult to tell patients about fetal anomalies. Written and oral information, medical reports and explanations about the limitations of ultrasound have improved substantially in content for 64% and are better used for 42%. Some clinicians (24.1%) report that they take the future parents' emotions into account more often. Some try to be more distant (13%) or more neutral (9.3%). More than half (51.9%) request the opinion of a center for prenatal diagnosis and fetal medicine more often and 20.4% request karyotyping more often. In all, 7.4% believe that their counseling now leads more often towards abortions. CONCLUSION: Although practitioners had an extremely negative perception of the case law and some were also unhappy with the new statute, these did lead to the reorganization and formalization of their practices. We can see that judicial decisions taken in a specific, individual situation can change collective practices and influence--or even overturn--public health strategies. The respondents' intention to take parents' emotions into account suggests they will find a common language to communicate with them. It is nonetheless necessary to organize a nationwide debate about the objectives of fetal ultrasound

Early asymmetric inter-hemispheric transfer in the auditory network: insights from infants with corpus callosum agenesis

International audienceThe left hemisphere specialization for language is a well-established asymmetry in the human brain. Structural and functional asymmetries are observed as early as the prenatal period suggesting genetically determined differences between both hemispheres. The corpus callosum is a large tract connecting mostly homologous areas; some have proposed that it might participate in an enhancement of the left-hemispheric advantage to process speech. To investigate its role in early development, we compared 13 3-4-month-old infants with an agenesis of the corpus callosum ("AgCC") with 18 typical infants using high-density electroencephalography (EEG) in an auditory task. We recorded event-related potentials (ERP) for speech stimuli (syllables and babbling noise), presented binaurally (same syllable in both ears), monaurally (babbling noise in one ear) and dichotically (syllable in one ear and babbling noise in the other ear). In response to these stimuli, both groups developed an anterior positivity synchronous with a posterior negativity, yet the topography significantly differed between groups likely due to the atypical gyration of the medial surface in AgCC. In particular, the anterior positivity was lateral in AgCC infants while it covered the midline in typical infants. We then measured the latencies of the main auditory response (P2 at this age) for the different conditions on the symmetrical left and right clusters. The main difference between groups was a ~60 ms delay in typical infants relative to AgCC, for the ipsilateral response (i.e. left hemisphere) to babbling noise presented in the left ear, whereas no difference was observed in the case of right-ear stimulation. We suggest that our results highlight an asymmetrical callosal connectivity favoring the right-to-left hemisphere direction in typical infants. This asymmetry, similar to recent descriptions in adults, might contribute to an enhancement of left lateralization for language processing beyond the initial cortical left-hemisphere advantage

Patterns of Detection of Fetal Posterior Fossa Anomalies: Analysis of 81 Cases in the Second Half of Gestation

&lt;b&gt;&lt;i&gt;Objective:&lt;/i&gt;&lt;/b&gt; To establish which characteristics of fetal ultrasound screening lead to the diagnosis of posterior fossa (PF) anomalies. &lt;b&gt;&lt;i&gt;Methods:&lt;/i&gt;&lt;/b&gt; A total of 81 fetuses with PF anomalies diagnosed after dedicated neuroimaging between July 1, 2007, and January 1, 2013, were included. The ultrasound characteristics of the fetal cerebellum categorized according to an anatomical approach to the PF, associated fetal anomalies, gestational age at diagnosis, and the potential benefits from systematic measurement of the transverse cerebellar diameter (TCD) were analyzed. &lt;b&gt;&lt;i&gt;Results:&lt;/i&gt;&lt;/b&gt; Fifty fetuses (61.7%) presented with a PF malformation responsible for an increased “fluid-filled” space of the PF, 24 fetuses (29.6%) had a malformation associated with a decreased cerebellar biometry, 23 fetuses (28.4%) had an abnormal cerebellar anatomy and/or echogenicity, and 2 fetuses (2.4%) showed an isolated malformation of the brainstem. Forty-seven cases (58%) showed additional cerebral or extracerebral anomalies, which led to the diagnosis of PF anomaly in 55.3% of the cases. Isolated PF anomalies were associated with an increased “fluid-filled” space of the PF in 91.2% of the cases. Twenty-eight fetuses had a TCD measurement considered as pathological. &lt;b&gt;&lt;i&gt;Discussion:&lt;/i&gt;&lt;/b&gt; Examination of the transcerebellar plane during 2nd- and 3rd-trimester ultrasound screening combined with systematic measurement of the TCD would allow improving the detection of PF anomalies.</jats:p