Neurodevelopmental outcomes in children with prenatally diagnosed corpus callosal abnormalities

Yeh, Hye-Ryun; Park, Hyo-Kyoung; Kim, Hyun‐Jin; Ko, Tae‐Sung; Won, Hye‐Sung; Lee, Mi-Young; Shim, Jae-Yoon; Yum, Mi‐Sun

doi:10.1016/j.braindev.2018.04.012

Cited by 21 publications

(45 citation statements)

References 20 publications

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“…Yeh et al [5] revealed that hCC or pCCA was often associated with concomitant non-CNS anomalies. The rate of severe disability in the later was higher than that in patients with cCCA; however, this difference was not statistically significant.…”

Section: Discussionmentioning

confidence: 99%

“…A recent integrative review highlighted that in truly isolated CCA, neurodevelopmental outcomes can range from normal development in about 75% of the individuals to different levels of intellectual disability. About 12% of the individuals in this series had severe intellectual disability [4, 11], which made it challenging for antenatal counseling, when a fetus is diagnosed with apparently isolated CCA [5-7, 10]. For this reason, a cognitive outcome of isolated CCA remains a major concern with uncertain prognosis.…”

Section: Introductionmentioning

confidence: 99%

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

Cunha

Carneiro

Miguel³

et al. 2021

Fetal Diagn Ther

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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.

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Section: Discussionmentioning

confidence: 99%

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

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“…The patient described in this manuscript presented a mild form of cblD disease with a clinical onset at 10 years of age. However, the severe alterations found in corpus callosum are typically associated with neurodevelopmental problems [54,55]. We suggest that early versus late onset may follow a transition, although the precise moment at which the disease starts to produce cognitive and neurological symptoms is not known.…”

Section: Discussionmentioning

confidence: 87%

Brain Circuit Alterations and Cognitive Disability in Late-Onset Cobalamin D Disorder

Heras

Diez

Jiménez-Marín

et al. 2020

JCM

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Neuroimaging studies describing brain circuits’ alterations in cobalamin (vitamin B12)-deficient patients are limited and have not been carried out in patients with inborn errors of cobalamin metabolism. The objective of this study was to assess brain functionality and brain circuit alterations in a patient with an ultra-rare inborn error of cobalamin metabolism, methylmalonic aciduria, and homocystinuria due to cobalamin D disease, as compared with his twin sister as a healthy control (HC). We acquired magnetic resonance imaging (including structural, functional, and diffusion images) to calculate brain circuit abnormalities and combined these results with the scores after a comprehensive neuropsychological evaluation. As compared with HC, the patient had severe patterns of damage, such as a 254% increment of ventricular volume, pronounced subcortical and cortical atrophies (mainly at striatum, cingulate cortex, and precuneus), and connectivity alterations at fronto-striato-thalamic circuit, cerebellum, and corpus callosum. In agreement with brain circuit alterations, cognitive deficits existed in attention, executive function, inhibitory control, and mental flexibility. This is the first study that provides the clinical, genetic, neuroanatomical, neuropsychological, and psychosocial characterization of a patient with the cobalamin D disorder, showing functional alterations in central nervous system motor tracts, thalamus, cerebellum, and basal ganglia, that, as far as we know, have not been reported yet in vitamin B12-related disorders.

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“…CCA was considered isolated when no other brain, spine, or extra-CNS anomalies were detected on ultrasound or MR imaging antenatally and no chromosomal anomalies were identified, in accordance with previous publications. 4,6,[13][14][15][16] In non-isolated CCA, associated anomalies were recorded. Severe global brain structural malformations that course without a CC (eg, holoprosencephaly, anencephaly) and the absence of the CC secondary to destructive lesions (eg, porencephaly) were excluded.…”

Section: Patients and Settingmentioning

confidence: 99%

“…Each option may be seen in isolation (no other fetal brain or body malformations) or in the context of a polymalformative or genetic condition. [1][2][3] In terms of outcome risk stratification, patients with associated CCA (aCCA) are at a high risk of neurodevelopmental delay, 4 while isolated CCA (iCCA) is associated with development within the normal range in up to 88% of children. [5][6][7][8][9] Other features, such as the presence of Probst bundles or sigmoid bundles, have been used inconsistently in an attempt to predict outcome.…”

mentioning

confidence: 99%

Beyond Isolated and Associated: A Novel Fetal MR Imaging–Based Scoring System Helps in the Prenatal Prognostication of Callosal Agenesis

Glatter

Kasprian²,

Bettelheim

et al. 2021

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE: Although "corpus callosum agenesis" is an umbrella term for multiple entities, prenatal counseling is based reductively on the presence (associated) or absence (isolated) of additional abnormalities. Our aim was to test the applicability of a fetal MR neuroimaging score in a cohort of fetuses with prenatally diagnosed isolated corpus callosum agenesis and associated corpus callosum agenesis and correlate it with neurodevelopmental outcomes. MATERIALS AND METHODS: We performed a single-center retrospective analysis of a cohort of cases of consecutive corpus callosum agenesis collected between January 2011 and July 2019. Cases were scored by 2 raters, and interater agreement was calculated. Outcome was assessed by standardized testing (Bayley Scales of Infant and Toddler Development, Kaufman Assessment Battery for Children) or a structured telephone interview and correlated with scores using 2-way ANOVA. RESULTS: We included 137 cases (74 cases of isolated corpus callosum agenesis), imaged at a mean of 27 gestational weeks. Interrater agreement was excellent (0.98). Scores were higher in associated corpus callosum agenesis (P , .0001) without a significant score difference between complete and partial corpus callosum agenesis (P ¼ .38). Outcome was assessed in 42 children with isolated corpus callosum agenesis and 9 with associated corpus callosum agenesis (mean age, 3.1 years). MR imaging scores correctly predicted developmental outcome in 90.7% of patients with isolated corpus callosum agenesis, improving neurodevelopmental risk stratification in corpus callosum agenesis. CONCLUSIONS: The scoring system is very reproducible and can differentiate isolated corpus callosum agenesis and associated isolated corpus callosum agenesis (significantly higher scores) but not between partial and complete corpus callosum agenesis. Scores correlated with outcome in isolated corpus callosum agenesis, but there were too few associated postnatal cases of isolated corpus callosum agenesis to draw conclusions in this group. ABBREVIATIONS: aCCA ¼ associated corpus callosum agenesis; CC ¼ corpus callosum; CCA ¼ corpus callosum agenesis; DCC ¼ deleted in colorectal cancer; iCCA ¼ isolated corpus callosum agenesis; MCD ¼ malformations of cortical development; TOP ¼ termination of pregnancy C orpus callosum (CC) agenesis (CCA) is one of the most com

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Neurodevelopmental outcomes in children with prenatally diagnosed corpus callosal abnormalities

Cited by 21 publications

References 20 publications

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

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

Brain Circuit Alterations and Cognitive Disability in Late-Onset Cobalamin D Disorder

Beyond Isolated and Associated: A Novel Fetal MR Imaging–Based Scoring System Helps in the Prenatal Prognostication of Callosal Agenesis

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