Prognostic indicators in the prenatal diagnosis of agenesis of corpus callosum

Vergani, Patrizia; Ghidini, Alessandro; Strobelt, Nicola; Locatelli, Anna; Mariani, Silvana; Bertalero, Carlo; Cavallone, Maria

doi:10.1016/s0002-9378(94)70277-2

Cited by 83 publications

(67 citation statements)

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“…This is in agreement with findings in prior studies showing that the presence of additional brain abnormalities imparts a worse prognosis. [6][7][8][11][12][13][14][15] Interestingly, we did observe sulcation delay in many patients, including those with a good neurodevelopmental outcome, which suggests that the sulcation delay is actually a manifestation of the white matter dysgenesis that likely occurs in ACC, rather than a separate or additional abnormality. Longer term neurodevelopmental studies, however, are needed in these patients because developmental delays have been observed in children with prenatally diagnosed isolated ACC 7,10,12,34,35 and may not be detected until school age.…”

Section: Discussionmentioning

confidence: 99%

“…[4][5][6][7][8][9][10] Although the prognostic implications of prenatally detected ACC are not fully understood, evidence suggests that the presence of additional brain abnormalities imparts a worse prognosis. [6][7][8][11][12][13][14][15] We chose to review our experience with cases of ACC and compare them with postnatal cohorts with ACC, to identify associated fetal brain abnormalities that may give insight into the etiology and outcome.…”

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confidence: 99%

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Agenesis of the Corpus Callosum: An MR Imaging Analysis of Associated Abnormalities in the Fetus

Tang¹,

Bartha²,

Norton³

et al. 2008

AJNR Am J Neuroradiol

127

102

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BACKGROUND AND PURPOSE:Anomalies associated with callosal agenesis (ACC) found postnatally have been well documented. However, to our knowledge, no detailed MR imaging analysis of associated anomalies has been reported in a large cohort of fetuses with ACC. This study will assess those anomalies and compare them with postnatal cohorts of ACC, to identify associated fetal brain abnormalities that may give insight into etiology and outcome.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Agenesis of the Corpus Callosum: An MR Imaging Analysis of Associated Abnormalities in the Fetus

Tang¹,

Bartha²,

Norton³

et al. 2008

AJNR Am J Neuroradiol

127

102

View full text Add to dashboard Cite

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“…The genetic etiology may also be polygenic and/or reflect complex genetic interactions (Paul et al 2007). Several studies suggest that isolated AgCC appears to carry the best prognosis, with up to 85% of individuals exhibiting average cognitive functioning (Pilu et al, 1993;Vergani et al, 1994). A number of potential candidates for compensation have been suggested, in particular enlargement of the anterior and posterior commissures, as well as the degree of AgCC (partial or complete).…”

Section: [Insert Figure 1 Here]mentioning

confidence: 99%

A Neuropsychological Profile for Agenesis of the Corpus Callosum? Cognitive, Academic, Executive, Social, and Behavioral Functioning in School-Age Children

Siffredi

Anderson

McIlroy

et al. 2018

J Int Neuropsychol Soc

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Re: A neuropsychological profile for agenesis of the corpus callosum? Cognitive, academic, executive, social and behavioral functioning in school-age children JINS#-17- RR-108Thank you for accepting our manuscript for publication with minor revisions.We would like to thank again the reviewers for their positive and constructive comments.Below we provide responses to each reviewer comment. The associated amendments in the manuscript are highlighted in red (and the amendments related to the previous revisions are highlighted in yellow). Best wishes, Dr Vanessa Siffredi and Dr Megan Spencer-Smith Reviewer 1Comment: The authors have been very responsive to feedback provided by the Reviewers and Action Editor. I have no further suggestions for revision.Response: Thank you. Reviewer 2Comment: You have been very diligent in responding to the questions I raised in my earlier review-thank you! Response: Thank you.Comment: My only lingering concern is whether this report will be really useful, and to whom. The heterogeneity of callosal agenesis both behaviorally and genetically makes it difficult to use the data with reference to particular individuals, although suppose the study can at least indicate the likely range of presentation. You suggest that heterogeneity is a positive feature, although even the heterogeneity is limited given the source of the data. Even so, this study is perhaps a useful contrast with the Quebec studies, where there was relative homogeneity, especially genetically.Response: This report provides crucial information for clinicians (neonatologists, neurologists, and neuropsychologists) Comment: From my perspective, the most useful observation was the even distribution of handedness, ignored in the first version and skipped over here. There is quite a lot of evidence that handedness is random in the absence of any congenital bias, and the data now seem to suggest that it is indeed random among those with agenesis of the corpus callosum. Could this mean that handedness itself depends on normal development of the corpus callosum? To me at least, this is something that does need further comment. (Raymond, Pontier, Dufour, Moller, 1996) 56% (e.g., Lábadi & Beke, 2017;Sauerwein & Lassonde, 1994;Chiarello, 1980) Response: In the general population, the percentage of left-handedness is around 10 to 13%

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“…It is a characteristic of Aicardi, Andermann, Shapiro and acrocallosal syndromes [15][16][17][18][19][20]. The clinical presentation of ACC is varied.…”

Section: Introductionmentioning

confidence: 99%

Outcome in Prenatally Diagnosed Fetal Agenesis of the Corpus callosum

Goodyear¹,

Bannister²,

Russell³

et al. 2001

Fetal Diagn Ther

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This study of the outcome and prognostic factors in prenatally diagnosed agenesis of the corpus callosum (ACC) was undertaken to see if there are any differences between subgroups, what relationship they have to neurodevelopmental outcome and whether this information aids the counselling of parents of fetuses with the condition. The outcome of 14 prenatally diagnosed fetuses with ACC and 61 postnatally diagnosed patients was assessed in terms of clinical problems, developmental milestones and neurological signs; each patient was then given a score out of 10, 0 being a normal outcome and 10 being the worst outcome, i.e. death or termination of pregnancy. Comparing patients diagnosed pre- and postnatally, several similarities were found indicating that the postnatal group can provide useful information about the prenatal group. There was a higher incidence of ACC in males than females. In the prenatally diagnosed patients complete ACC was more common than partial ACC, although this might be because partial ACC was easily missed. Complete ACC has a worse prognosis than partial ACC (p = 0.001), and when associated with other anomalies, especially of the central nervous system, the outcome is very bad (p < 0.01). The only neurodevelopmentally normal patients were in the isolated partial ACC group. This study highlights the need to perform a detailed review of fetal anatomy and the desirability of determining the karyotype of the fetus in all newly diagnosed cases of ACC so that as much information as possible is available before parents are counselled about the likely outcome.

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Prognostic indicators in the prenatal diagnosis of agenesis of corpus callosum

Cited by 83 publications

References 9 publications

Agenesis of the Corpus Callosum: An MR Imaging Analysis of Associated Abnormalities in the Fetus

Agenesis of the Corpus Callosum: An MR Imaging Analysis of Associated Abnormalities in the Fetus

A Neuropsychological Profile for Agenesis of the Corpus Callosum? Cognitive, Academic, Executive, Social, and Behavioral Functioning in School-Age Children

Outcome in Prenatally Diagnosed Fetal Agenesis of the Corpus callosum

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