Agenesis of the Corpus Callosum: Clinical, Neuroradiological and Cytogenetic Studies*

Serur, David; Jeret, Joseph S.; Wisniewski, Krystyna E.

doi:10.1055/s-2008-1052407

Cited by 78 publications

(51 citation statements)

References 9 publications

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“…Pilot study Based on the phase 2 selection criteria, three of the total of eight publications in the pilot study were excluded from the review due to the following reasons: major goal was not elucidation of aetiology of MR; 24 patient selection criteria unclear; 25 number of patients with MR o25. 26.…”

Section: Search Strategymentioning

confidence: 99%

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness

et al. 2004

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There are no guidelines available for diagnostic studies in patients with mental retardation (MR) established in an evidence-based manner. Here we report such study, based on information from original studies on the results with respect to detected significant anomalies (yield) of six major diagnostic investigations, and evaluate whether the yield differs depending on setting, MR severity, and gender. Results for cytogenetic studies showed the mean yield of chromosome aberrations in classical cytogenetics to be 9.5% (variation: 5.4% in school populations to 13.3% in institute populations; 4.1% in borderlinemild MR to 13.3% in moderate-profound MR; more frequent structural anomalies in females). The median yield of subtelomeric studies was 4.4% (also showing female predominance). For fragile X screening, yields were 5.4% (cytogenetic studies) and 2.0% (molecular studies) (higher yield in moderate-profound MR; checklist use useful). In metabolic investigations, the mean yield of all studies was 1.0% (results depending on neonatal screening programmes; in individual populations higher yield for specific metabolic disorders). Studies on neurological examination all showed a high yield (mean 42.9%; irrespective of setting, degree of MR, and gender). The yield of neuroimaging studies for abnormalities was 30.0% (higher yield if performed on an indicated basis) and the yield for finding a diagnosis based on neuroradiological studies only was 1.3% (no data available on value of negative findings). A very high yield was found for dysmorphologic examination (variation 39 -81%). The data from this review allow conclusions for most types of diagnostic investigations in MR patients. Recommendations for further studies are provided.

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Section: Search Strategymentioning

confidence: 99%

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness

et al. 2004

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“…The most frequently reported associated abnormalities are hydrocephalus, the Arnold-Chiari malformation and microcephaly [2]. Spinal, craniofacial and limb abnormalities are also common associates with ACC [2,16,17], and include spina bifida, scoliosis, talipes equinovarus, polysyndactaly [15], craniosynostosis and cleft lip and palate. Associated congenital cardiovascular, renal and gastro-intestinal abnormalities also occur.…”

Section: Introductionmentioning

confidence: 99%

“…Seizures, mental retardation, developmental delay, microcephaly, macrocephaly and abnormal neurological signs are frequently reported in children with ACC [2,6,17,22].…”

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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“…Some children may exhibit delays in achieving motor, language and cognitive milestones and often accomplish toilet training at a much later age than their typically developing siblings (Experiencing enuresis either occasionally or frequently). [8,9,10] In our case the patient complains were only delay in head holding , further developmental delays may be recognized later as time proceeds.…”

Section: Discussionmentioning

confidence: 97%

Corpur Callosum Dysgenesis : A Case Report

Gursale¹,

Gursale²

2015

jemds

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Agenesis of corpus callosum can have various neuropsychiatric and developmental manifestations. Following case report highlights the case of a young female child presenting with features of not ability to hold head and delayed speech. The child showed no other positive findings and is conscious and oriented at the time of examination. Following this complains the patient was subjected for a non-contrast MRI. Neuroimaging revealed agenesis of corpus callosum. There were no other findings which could explain the current situation experienced by the patient.

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Agenesis of the Corpus Callosum: Clinical, Neuroradiological and Cytogenetic Studies*

Cited by 78 publications

References 9 publications

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness

Outcome in Prenatally Diagnosed Fetal Agenesis of the Corpus callosum

Corpur Callosum Dysgenesis : A Case Report

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