Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum

Doussal, Lise Folliot-Le; Chadie, Alexandra; Brasseur‐Daudruy, M.; Verspyck, É.; Saugier-Veber, Pascale; Marret, Stéphane

doi:10.1016/j.earlhumdev.2017.10.004

Cited by 38 publications

(51 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…However, the prevalence of ACC is high in the children with neurodevelopmental disability, 230–600 per 10,000 which would make it one of the most common brain anomalies (Palmer & Mowat, ). The neurodevelopmental outcome of cases with isolated ACC without other anomalies is usually normal or with mild disability (D'antonio et al, ; Des Portes et al, ; Folliot‐Le Doussal et al, ; Sotiriadis & Makrydimas, ) whereas prognosis is poor in cases with associated non‐ACC congenital anomalies (Margari et al, ). ACC is frequently associated with other congenital defects.…”

Section: Introductionmentioning

confidence: 99%

Associated anomalies in cases with agenesis of the corpus callosum

Stoll

Dott

Roth

2019

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Agenesis of corpus callosum (ACC) is an uncommon congenital anomaly, its etiology is unclear and its pathogenesis is controversial. Cases with ACC often have other non-ACC associated congenital anomalies. The purpose of this study was to assess the prevalence and the types of these associated anomalies in a defined population.The associated anomalies in cases with ACC were collected in all live births, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 99 cases with ACC, representing a prevalence of 2.56 per 10,000, 73 (73.7%) had associated anomalies. There were 16 (16.2%) cases with chromosomal abnormalities, and 13 (13.2%) nonchromosomal recognized dysmorphic conditions including syndromes two each: Aicardi, Dandy-Walker, and fetal alcoholism. Forty-four (44.4%) of the cases had nonsyndromic multiple congenital anomalies (MCA). Anomalies in the musculoskeletal, the urogenital, the central nervous, the cardiovascular, and the digestive systems were the most common other anomalies in the cases with MCA.The anomalies associated with ACC could be classified into a recognizable malformation syndrome in 29 out of the 73 cases (39.7%) with associated anomalies. This study included special strengths: it is population-based, each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, three of four cases, emphasizes the need for a screening for other anomalies in cases with ACC. K E Y W O R D Sagenesis of corpus callosum, brain malformations, central nervous system anomalies, congenital anomalies, multiple congenital anomalies

show abstract

Section: Introductionmentioning

confidence: 99%

Associated anomalies in cases with agenesis of the corpus callosum

Stoll

Dott

Roth

2019

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…However, they might present with learning difficulties. 14,15 The presence of ACC with extra callosal brain malformation or chromosomal anomalies is a predictor of worse outcome. TCC is a relatively rare finding with poor outcomes.…”

Section: Discussionmentioning

confidence: 99%

Cranial ultrasonographic screening findings among healthy neonates and their association with neurodevelopmental outcomes

Lin

Chiu

Chen

et al. 2021

Pediatrics & Neonatology

View full text Add to dashboard Cite

Background: To analyze the findings of cranial ultrasonographic screening in asymptomatic neonates and to assess the association between abnormal results and neurodevelopment. Methods: We retrospectively reviewed the cranial ultrasonographic screening results of healthy neonates born between 35 and 42 weeks gestation at our hospital from October 2011 to October 2018. Results: In total, 11,681 neonates underwent cranial ultrasonographic screening during the study period, and 9666 (82.7%) had normal results. Of 2015 neonates with abnormal findings, 294 had more than two abnormalities. The most common minor findings were subependymal cysts (8.99%), choroid plexus cysts (2.43%), lenticulostriate vasculopathy (2.34%), frontal horn cysts (1.80%), and enlarged cisterna magna (1.04%). Then, 33 (0.28%) neonates had major abnormalities, including cerebral hemorrhage, periventricular heterotopia, focal cortical dysplasia, anomalies of the corpus callosum, and vascular malformation. Of 1334 neonates who underwent serial clinical evaluations, 76 (5.69%) had neurodevelopmental disorders, including developmental delay, attention-deficit/hyperactivity disorder, and autistic spectrum disorder. Conclusion: The incidence rate of intracranial anomalies in healthy neonates was 17.3%, and about 5.69% had neurodevelopmental disorders. Cranial ultrasonographic screening has its own value in helping early detection of intracranial anomalies in healthy neonates, some of which have prognostic implications.

show abstract

“…The most common anomalies involving the CC are complete CCA (cCCA) or partial CCA (pCCA) [1, 2, 7], hypo-hyperplasia of the CC and dysplasia. Dysgenesis of the CC refers to the CC being present but malformed in some way, including pCCA and CC hypoplasia (hCC) [8].…”

Section: Introductionmentioning

confidence: 99%

Neurodevelopmental Outcomes following Prenatal Diagnosis of Isolated Corpus Callosum Agenesis: A Systematic Review

Cunha

Carneiro

Miguel³

et al. 2021

Fetal Diagn Ther

View full text Add to dashboard Cite

Abnormalities of corpus callosum are one of the most common brain anomalies. Fetuses with isolated corpus callosum agenesis (CCA) have a better prognosis than those with additional anomalies. However, unpredictable neurodevelopmental outcomes of truly isolated CCA make prenatal counseling a challenge. The aim of this review is to evaluate neurodevelopmental outcomes in children with prenatal diagnosis of isolated CCA. Controlled clinical trials published between May 23, 2009, and May 23, 2019, using the MeSH term “agenesis of corpus callosum” were reviewed. A total of 942 articles were identified, and 8 studies were included in the systematic review depending on the inclusion criteria. These studies included 217 fetuses with isolated CCA and no other anomalies at prenatal assessment. Neurodevelopmental outcome was reported to be normal in 83 children with a prenatal diagnosis of isolated CCA confirmed at birth within 128 completed assessments. About 45 children presented borderline, moderate, or severe neurodevelopmental outcome. In this review, neurodevelopment was favorable in two-thirds of the cases, but mild disabilities emerged in older children. Despite this, disabilities can occur later beyond school age and a low risk of severe cognitive impairment exists. Our study highlights the essential early diagnosis and proper supportive therapy.

show abstract

Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum

Cited by 38 publications

References 21 publications

Associated anomalies in cases with agenesis of the corpus callosum

Associated anomalies in cases with agenesis of the corpus callosum

Cranial ultrasonographic screening findings among healthy neonates and their association with neurodevelopmental outcomes

Neurodevelopmental Outcomes following Prenatal Diagnosis of Isolated Corpus Callosum Agenesis: A Systematic Review

Contact Info

Product

Resources

About