Les antécédents familiaux influencent-ils le risque ?
Oui, des antécédents familiaux de malformations peuvent augmenter le risque d'agénésie.
Antécédents familiauxRisque génétique
#5
Les vaccinations pendant la grossesse sont-elles sûres ?
Oui, certaines vaccinations sont recommandées et sûres pendant la grossesse pour protéger le fœtus.
VaccinationGrossesse
Traitements
5
#1
Quel est le traitement principal pour l'agénésie du corps calleux ?
Il n'existe pas de traitement curatif, mais des thérapies peuvent aider à gérer les symptômes.
ThérapieAgénésie du corps calleux
#2
Les médicaments sont-ils utilisés pour traiter cette condition ?
Des médicaments peuvent être prescrits pour gérer les symptômes comme les convulsions.
MédicamentsConvulsions
#3
La rééducation est-elle bénéfique ?
Oui, la rééducation physique et cognitive peut améliorer les compétences fonctionnelles.
RééducationThérapie physique
#4
Les interventions psychologiques sont-elles recommandées ?
Oui, un soutien psychologique peut aider à gérer les défis émotionnels et comportementaux.
Soutien psychologiqueTroubles émotionnels
#5
Y a-t-il des traitements alternatifs disponibles ?
Certaines approches alternatives peuvent être explorées, mais elles doivent être discutées avec un médecin.
Médecine alternativeConsultation médicale
Complications
5
#1
Quelles complications peuvent survenir avec cette condition ?
Les complications incluent des troubles cognitifs, des problèmes de développement et des convulsions.
ComplicationsTroubles cognitifs
#2
L'agénésie du corps calleux peut-elle affecter la vie quotidienne ?
Oui, elle peut entraîner des défis dans les activités quotidiennes et l'autonomie.
Vie quotidienneAutonomie
#3
Y a-t-il un risque accru de troubles psychiatriques ?
Oui, certains patients peuvent développer des troubles psychiatriques au cours de leur vie.
Troubles psychiatriquesAgénésie du corps calleux
#4
Les problèmes d'apprentissage sont-ils fréquents ?
Oui, des difficultés d'apprentissage sont courantes chez les personnes atteintes.
Difficultés d'apprentissageAgénésie du corps calleux
#5
Des problèmes de socialisation peuvent-ils survenir ?
Oui, des difficultés de socialisation et d'interaction peuvent être observées.
Problèmes de socialisationInteraction sociale
Facteurs de risque
5
#1
Quels sont les facteurs de risque connus ?
Les facteurs de risque incluent des antécédents familiaux et certaines anomalies chromosomiques.
Facteurs de risqueAnomalies chromosomiques
#2
L'âge maternel influence-t-il le risque ?
Oui, un âge maternel avancé peut augmenter le risque de malformations congénitales.
Âge maternelMalformations congénitales
#3
Les infections pendant la grossesse sont-elles un risque ?
Certaines infections, comme la rubéole, peuvent augmenter le risque de malformations.
InfectionsGrossesse
#4
L'usage de drogues pendant la grossesse est-il un facteur de risque ?
Oui, l'usage de drogues et d'alcool pendant la grossesse peut augmenter le risque.
DroguesAlcool
#5
Les troubles métaboliques maternels influencent-ils le risque ?
Oui, certains troubles métaboliques peuvent être associés à un risque accru de malformations.
Troubles métaboliquesMalformations congénitales
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School of Psychological Sciences, Monash University, Melbourne, Australia; Clinical Sciences, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Clinical Sciences, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Neuroscience, Central Clinical School, Monash University, Melbourne, Australia.
Clinical Sciences, Murdoch Children's Research Institute, Parkville, Victoria, Australia; School of Psychology, Deakin University, Burwood, Victoria, Australia; Aston Institute for Health and Neurodevelopment, Aston University, Birmingham, UK.
Clinical Sciences, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.
Clinical Sciences, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Division of Development and Growth, Department of Paediatrics, Gynaecology and Obstetrics, Geneva University Hospitals and University of Geneva, Geneva, Switzerland; Department of Radiology, Lausanne University Hospital and University of Lausanne, Switzerland. Electronic address: vanessa.siffredi@unige.ch.
Clinical Sciences, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia; The Royal Children's Hospital, Melbourne, Australia.
Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria. elisabeth.bartha-doering@meduniwien.ac.at.
Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria. elisabeth.bartha-doering@meduniwien.ac.at.
Congenital corpus callosum agenesis (CCA) is one of the congenital anomalies in newborns, which usually presents with syndromic features. It can be asymptomatic or have variable neurological deficits....
A total of 126 patients with CCA combined with hearing loss diagnosed at our hospital from November 2005 to November 2022 were retrospectively included in our study. All patients had at least one scre...
Among 126 patients, 93 had automated auditory brainstem response within a month from birth. Of the 93 patients, 20 (21.5%) had a "refer" result in the screening tests in at least one ear. The final in...
Patients with CCA have a higher incidence of hearing loss. However, this is likely related to the concurrent condition of patients. CCA seems not to be a risk factor for hearing loss....
Agenesis of the corpus callosum (ACC) is an anomaly that can occur in fetuses during pregnancy. However, there is currently no treatment for fetal ACC. Therefore, we conducted a retrospective analysis...
Amniotic fluid or umbilical cord blood were extracted from pregnant women with fetal ACC for karyotype analysis and chromosomal microarray analysis (CMA). Among the 48 fetuses with ACC, 22 (45.8%, 22/...
Pregnant women with fetal ACC should be offered prenatal CMA, particularly non-isolated ACC. Patients with ACC should undergo prolonged postnatal follow-up, and appropriate intervention should be prov...
One stated objective of prenatal screening and diagnosis is the preparation for delivering a baby with medical needs or disability, however, psychosocial outcomes of parents who received a prenatal di...
Agenesis of the corpus callosum is associated with several malformations of cortical development. Recently, features of focal cortical dysgyria have been described in fetuses with agenesis of the corp...
This study aimed to describe the "cortical invagination sign," a specific sonographic feature of focal cortical dysgyria, which is consistently seen at midtrimester axial brain ultrasound in fetuses w...
This was a retrospective analysis of prospectively collected data from 2018 to 2021, including patients referred to 5 fetal medicine centers in the second trimester of pregnancy (19 0/7 to 22 0/7 week...
During the study period, 64 cases of complete agenesis of the corpus callosum were included; of those cases, 50 (78.1%) resulted in termination of pregnancy, and 14 (21.9%) resulted in a live birth. T...
The "cortical invagination sign" is a specific marker of focal cortical dysgyria, which seems to characterize at midtrimester of pregnancy in a large group of fetuses with complete agenesis of the cor...
The diagnosis of corpus callosum anomalies by prenatal ultrasound has improved over the last decade because of improved imaging techniques, scanning skills, and the routine implementation of transvagi...
Our aim was to investigate all cases of incomplete agenesis of the corpus callosum and to report the sonographic characteristics, the associated anomalies, and the perinatal outcomes....
We performed a retrospective analysis of cases from January 2007 to December 2017 with corpus callosum anomalies, either referred for a second opinion or derived from the prenatal ultrasound screening...
Corpus callosum anomalies were diagnosed in 148 cases during the study period, 62 (41.9%) of which were excluded because of complete agenesis, and 86 fetuses had partial agenesis (58.1%). In 20 cases,...
Partial corpus callosum agenesis should be accurately investigated by neurosonography and fetal magnetic resonance imaging to describe its morphology and the associated anomalies. Genetic anomalies ar...
Primary agenesis of the corpus callosum (ACC) is a congenital neurological disorder characterized by the absence, either partial or complete, of the corpus callosum in individuals who do not have inte...
This study used self- and informant-ratings on the Adaptive Behavior Assessment System, Second Edition (ABAS-II) to evaluate adaptive behavior in 35 adults diagnosed with primary ACC....
While adults with primary ACC reported adaptive functioning comparable to an age-adjusted normative sample, family informants rated their adaptive ability below norms in several skill domains, particu...
This pattern of lower ratings by informants than self-ratings suggests adults with ACC may have poor understanding of their own behavior and its consequences. This study demonstrates that informants o...
We report a 3-year-old male with findings of segmental agenesis of the corpus callosum, pituitary hypoplasia, and Chiari I malformation. The patient was born at 33 weeks and spent five weeks in the NI...
Agenesis of the corpus callosum (ACC) is one of the most common brain malformations, with an incidence estimated to range from 0.5 to 70 in 10,000 among the general population. Prenatal diagnosis is m...
There is limited information about sleep in agenesis of the corpus callosum (ACC). We aim to describe the sleep architecture and respiratory parameters of children with ACC....
We performed a retrospective study of 20 patients with ACC who had polysomnography (PSG) between 2000-2023. Demographic data, BMI or weight for length, associated conditions, and PSG findings were col...
Average age was 5.9 ± 5.4 years old; 12/20 patients were male. 6/20 were overweight/obese. 14/20 had complete ACC, and 6/20 had partial ACC. 8/20 had seizures. 15/20 had ≥1 NSF poor sleep quality indi...
Children with ACC have poor sleep quality, and many have OSA. There was no difference in sleep quality or presence of OSA between those with complete and partial ACC. OSA was seen more in younger chil...
Previous studies have found deficits in imaginative elaboration and social inference to be associated with agenesis of the corpus callosum (ACC; Renteria-Vasquez et al., 2022; Turk et al., 2009). In t...
Topic modeling was employed utilizing Latent Diritchlet Allocation to characterize the narrative responses to the pictures used in the TAT. A measure of the difference between models (perplexity) was ...
Group differences in perplexity were statistically significant overall, and for each card individually (...
TAT narratives from persons with ACC were normally coherent, but more conventional (i.e., more similar to the core text) compared to those of neurotypical controls. Individuals with ACC can make conve...
