Schizencephaly: Difference between revisions
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== Prevalence == | == Prevalence == | ||
The prevalence of Schizencephaly was researched through a registered based study titled, “Schizencephaly prevalence, prenatal diagnosis and clues to etiology”. This study took place in UK and their objective was to establish the prevalence and antenatal (prenatal) diagnosis of schizencephaly. The results were as follows: | |||
<br>“Data on Schizencephaly were extracted from six regional congenital anomaly registers. Results Thirty-eight cases of Schizencephaly were identified in 2,567,165 live births and stillbirths, giving a total prevalence of 1.48/100,000 births (95% CI, 1.01-1.95). Eighteen (47% (95% CI, 31-63%)) of the 38 cases were identified antenatally. No affected fetus had an abnormal karyotype identified. A high proportion of cases of Schizencephaly occurred in younger mothers: 63% were aged 24 years or less, significantly higher ( P < 0.0001) than the corresponding proportion (26%) of mothers in England and Wales. The majority of cases were not identified until after 22 weeks of pregnancy. Additional anomalies associated with vascular disruption sequences were found in eight cases which had septo-optic dysplasia or absent septum pellucidum, one of which also had gastroschisis.”<ref name="howe">Howe, D.T. Rankin J. Draper, E.S. Schizencephaly prevalence, prenatel diagnosis and clues to etiology: a register-based study. Ultrasound Obstet Gynecol. 2012, 39: 75-82. Full version:http://bellarmine.illiad.oclc.org/illiad/illiad.dll?SessionID=B182930128W&Action=10&Form=75&Value=13876 (accessed 30 March 2012).</ref><br> | |||
== Characteristics/Clinical Presentation == | == Characteristics/Clinical Presentation == | ||
Revision as of 00:31, 3 April 2012
Original Editors -Kellie Johnston & Molly Williams from Bellarmine University's Pathophysiology of Complex Patient Problems project.
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Definition/Description[edit | edit source]
"Schizencephaly is a developmental birth defect. It is characterized by abnormal slits or clefts in the cerebral hemispheres of the brain. People with clefts in both hemispheres commonly have developmental delays, delays in speech and language skills, seizures, and problems with brain-spinal cord communication. Individuals with clefts in only one hemisphere are often paralyzed on one side of the body, may have seizures, and may have average to near-average intelligence. Other signs and symptoms may include an abnormally small head (microcephaly), hydrocephalus, intellectual disability, partial or complete paralysis, or poor muscle tone (hypotonia). Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed."[1]
Prevalence[edit | edit source]
The prevalence of Schizencephaly was researched through a registered based study titled, “Schizencephaly prevalence, prenatal diagnosis and clues to etiology”. This study took place in UK and their objective was to establish the prevalence and antenatal (prenatal) diagnosis of schizencephaly. The results were as follows:
“Data on Schizencephaly were extracted from six regional congenital anomaly registers. Results Thirty-eight cases of Schizencephaly were identified in 2,567,165 live births and stillbirths, giving a total prevalence of 1.48/100,000 births (95% CI, 1.01-1.95). Eighteen (47% (95% CI, 31-63%)) of the 38 cases were identified antenatally. No affected fetus had an abnormal karyotype identified. A high proportion of cases of Schizencephaly occurred in younger mothers: 63% were aged 24 years or less, significantly higher ( P < 0.0001) than the corresponding proportion (26%) of mothers in England and Wales. The majority of cases were not identified until after 22 weeks of pregnancy. Additional anomalies associated with vascular disruption sequences were found in eight cases which had septo-optic dysplasia or absent septum pellucidum, one of which also had gastroschisis.”[2]
Characteristics/Clinical Presentation[edit | edit source]
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Associated Co-morbidities[edit | edit source]
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Medications[edit | edit source]
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Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
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Etiology/Causes[edit | edit source]
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Systemic Involvement[edit | edit source]
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Medical Management (current best evidence)[edit | edit source]
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Physical Therapy Management (current best evidence)[edit | edit source]
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Alternative/Holistic Management (current best evidence)[edit | edit source]
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Differential Diagnosis[edit | edit source]
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Case Reports/ Case Studies[edit | edit source]
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Resources
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Recent Related Research (from Pubmed)[edit | edit source]
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References[edit | edit source]
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- ↑ Genetic and Rare Diseases Information Center (GARD). Schizencephaly. http://rarediseases.info.nih.gov/GARD/QnASelected.aspx?diseaseID=166#1652 (accessed 1 April 2012).
- ↑ Howe, D.T. Rankin J. Draper, E.S. Schizencephaly prevalence, prenatel diagnosis and clues to etiology: a register-based study. Ultrasound Obstet Gynecol. 2012, 39: 75-82. Full version:http://bellarmine.illiad.oclc.org/illiad/illiad.dll?SessionID=B182930128W&Action=10&Form=75&Value=13876 (accessed 30 March 2012).
