Neurodevelopmental Outcome of Patients With Agenesis of Corpus Callosum

Background: Agenesis of Corpus Callosum (ACC) is a type of brain dysgenesis with various clinical manifestations. Objectives: This study aimed to investigate the clinical and neurodevelopmental outcomes of patients with ACC. Materials & Methods: In this cross-sectional study, the clinical and neurodevelopmental conditions of 62 patients with complete ACC referred to subspecialty clinics of pediatric neurology, Isfahan University of Medical Sciences, Isfahan, Iran, were investigated. Quantitative data were shown as Mean±SD, and qualitative data as frequency or percentage. In addition, the f Chi-square test was used to compare some data in SPSS version 22. Results: In this study, 62 patients, including 29 boys and 33 girls with a Mean±SD age of 4.99±5.07 years, were included. Among the patients examined, 54.4% were born of consanguineous marriage, 82% had developmental delays, 80.4% had mental retardation, 89.1% had a speech delay, 23.7% had nutritional problems, 42.4% had facial dysmorphic features, and 27.6% had abnormalities of muscle tone. Among the associated problems stated by the patients, 15.5% of them had heart diseases, 22.4% visual disorders, 5.2% hearing deficit, 25.8% behavioral problems, 50% seizures, and 53.3% had abnormal electroencephalogram. Interestingly, 12.9% of the patients had normal or near-normal development. Conclusion: The prevalence of developmental delays, speech and language disorders, mental retardation, facial deformities, seizures, and abnormal muscle tone were common in the patients with ACC.

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

Fetal Diagnosis and Therapy ◽

10.1159/000512534 ◽

2021 ◽

pp. 1-8

Author(s):

Sara Bernardes da Cunha ◽

Maria Carolina Carneiro ◽

Maria Miguel Sa ◽

Andrea Rodrigues ◽

Carla Pina

Keyword(s):

Systematic Review ◽

Prenatal Diagnosis ◽

Corpus Callosum ◽

Neurodevelopmental Outcome ◽

Supportive Therapy ◽

Mesh Term ◽

Older Children ◽

Neurodevelopmental Outcomes ◽

Agenesis Of Corpus Callosum ◽

Corpus Callosum Agenesis

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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Clinical and molecular cytogenetic characterization of two cases of inverted duplication deletion 8p

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2020.03.41-42 ◽

2020 ◽

pp. 41-42

Author(s):

Д.А. Юрченко ◽

М.Е. Миньженкова ◽

Е.Л. Дадали ◽

Н.В. Шилова

Keyword(s):

Mental Retardation ◽

Congenital Heart ◽

Heart Defects ◽

Clinical Manifestations ◽

Formation Mechanisms ◽

Agenesis Of Corpus Callosum ◽

Molecular Cytogenetic ◽

Inverted Duplication ◽

Cytogenetic Characterization

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.

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Faculty Opinions recommendation of Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.717959219.793462629 ◽

2012 ◽

Author(s):

R Frank Kooy

Keyword(s):

Mental Retardation ◽

Behavioral Problems ◽

Developmental Delays

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Prenatal diagnosis of agenesis of corpus callosum: what is the neurodevelopmental outcome?

Pediatrics International ◽

10.1111/j.1442-200x.2006.02208.x ◽

2006 ◽

Vol 48 (3) ◽

pp. 298-304 ◽

Cited By ~ 33

Author(s):

PISANI FRANCESCO ◽

BIANCHI MARIA-EDGARDA ◽

PIANTELLI GIOVANNI ◽

GRAMELLINI DANDOLO ◽

BEVILACQUA GIULIO

Keyword(s):

Prenatal Diagnosis ◽

Corpus Callosum ◽

Neurodevelopmental Outcome ◽

Agenesis Of Corpus Callosum

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OC15.02: Neurodevelopmental outcome in truly isolated fetal agenesis of corpus callosum

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.13557 ◽

2014 ◽

Vol 44 (S1) ◽

pp. 35-35

Author(s):

G. Pagani ◽

V. Gerosa ◽

F. D'Antonio ◽

M. Gregorini ◽

P. Accorsi ◽

...

Keyword(s):

Corpus Callosum ◽

Neurodevelopmental Outcome ◽

Agenesis Of Corpus Callosum

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Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

The American Journal of Human Genetics ◽

10.1016/j.ajhg.2010.07.011 ◽

2010 ◽

Vol 87 (2) ◽

pp. 219-228 ◽

Cited By ~ 183

Author(s):

Stephen R. Williams ◽

Micheala A. Aldred ◽

Vazken M. Der Kaloustian ◽

Fahed Halal ◽

Gordon Gowans ◽

...

Keyword(s):

Mental Retardation ◽

Behavioral Problems ◽

Developmental Delays

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Corpus Callosum Growth and Neurodevelopmental Outcome Are Negatively Influenced by Systemic Infection in Very Low-Birth-Weight Infants

Journal of Child Neurology ◽

10.1177/08830738211016239 ◽

2021 ◽

pp. 088307382110162

Author(s):

Peter Korček ◽

Zuzana Korčeková ◽

Ivan Berka ◽

Jáchym Kučera ◽

Zbyněk Straňák

Keyword(s):

Birth Weight ◽

Low Birth Weight ◽

Corpus Callosum ◽

Very Low Birth Weight ◽

Neurodevelopmental Outcome ◽

Systemic Infection ◽

Cerebral White Matter ◽

Neurodevelopmental Outcomes ◽

Long Term Outcome ◽

Increased Risk

Systemic infection may negatively modulate the development of cerebral white matter and long-term outcome of neonates. We analyzed the growth of corpus callosum (using cranial ultrasonography) and neurodevelopment (Bayley Scales of Infant Development, Third Edition) in 101 very low-birth-weight newborns. We observed significantly reduced corpus callosum length at 3 months of corrected age (44.5 mm vs 47.7 mm, P = .004) and diminished corpus callosum growth (0.07 mm/d vs 0.08 mm/d, P = .028) in infants who experienced systemic infection. The subgroup exhibited inferior neurodevelopmental outcomes with predominant motor impairment. The results suggest that length and growth of corpus callosum might be affected by systemic inflammatory response in preterm newborns. The changes in corpus callosum can contribute to adverse neurodevelopment at 2 years of corrected age. Serial ultrasonographic measurements of the corpus callosum may be suitable to identify preterm infants with increased risk of neurodevelopmental impairment.

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A CASE SERIES OF PHYLLOID HYPOMELANOSIS

10.36106/paripex/9700340 ◽

2021 ◽

pp. 8-9

Author(s):

S.N. Agrawal ◽

Nisha M Varma ◽

Manali Patil ◽

Mohini Bhagwat

Keyword(s):

Hearing Loss ◽

Mental Retardation ◽

Corpus Callosum ◽

Conductive Hearing Loss ◽

Case Series ◽

Skin Lesions ◽

Agenesis Of Corpus Callosum ◽

Skeletal Defects ◽

Conductive Hearing

THE PHYLLOID HYPOMELANOSIS is a defined as a distinct syndrome consisting of achromic phylloid skin lesions in combination with extracutaneous anomalies such as mental retardation , agenesis of corpus callosum , conductive hearing loss ,coloboma and various skeletal defects[1].

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