Colpocephaly

What Causes Colpocephaly?

The precise cause of colpocephaly is unknown, but scientists believe that the disorder can arise from numerous causes. The underlying causes likely interfere with the environment in the womb or with the fetus itself in the middle months of pregnancy, a vital time in the process of fetal brain development.

Potential causes include:

• Abnormalities in chromosomes, such as trisomy-8 mosaicism and trisomy-9 mosaicism
• Infection in the uterus, such as toxoplasmosis
• Loss of blood flow to the baby close to the time of birth
• Use of certain drugs by the mother during pregnancy, such as corticosteroids, salbutamol, and theophylline
• Malnutrition during pregnancy
• Use of alcohol during pregnancy
• Use of oral contraceptives during pregnancy

Is Colpocephaly Hereditary?

In many cases, colpocephaly does not seem to be inherited. However, in a small number of cases, the disorder has occurred in multiple members of the same family, suggesting that an inherited genetic component may be involved.

How Is Colpocephaly Detected?

Sometimes colpocephaly may be diagnosed before birth during ultrasound imaging exams. However, when it is detected this early, the condition is often misdiagnosed as hydrocephalus, the accumulation of fluid inside the cavities in the brain.

How Is Colpocephaly Diagnosed?

Colpocephaly is usually diagnosed in infancy when symptoms of the disorder (such as small head size, seizures, and intellectual impairments) become apparent. The diagnostic process usually includes:

• Assessment of the child’s medical and family history
• Physical and neurological exams
• Imaging scans such as MRI, CT, or ultrasound to look for the characteristic malformations of the disorder

PLEASE CONSULT A PHYSICIAN FOR MORE INFORMATION.

How Is Colpocephaly Treated?

Colpocephaly has no cure, and treatment will not reverse the effects of its symptoms. Treatments and therapies aim instead to lessen the impact of symptoms and prevent complications. Common treatments and therapies include:

• Anti-seizure medications
• Physical therapy
• Speech therapy
• Special education

How Does Colpocephaly Progress?

Colpocephaly is typically not fatal, but if the malformation is significant and/or other brain disorders are also present, the condition may cause long-term disabilities or complications.  However, some cases have been recorded in which children with colpocephaly have experienced no major movement problems or intellectual impairments.

Potential effects of colpocephaly include:

• Speech impairments
• Epilepsy
• Mobility problems associated with rigid or shrinking muscles (contractures)
• Fluid accumulation in the brain (hydrocephalus) that causes neurological symptoms
• Intellectual disability

How Is Colpocephaly Prevented?

Because the cause of colpocephaly is not well understood, it is difficult to identify a sure way to prevent the disorder. However, avoidance of risk factors during pregnancy is the best way to decrease the risk of colpocephaly:

• Get vaccinations as recommended by your doctor and take steps to avoid infections.
• Avoid medications that have been associated with colpocephaly during pregnancy.
• Don’t use drugs or alcohol during pregnancy.
• Get good prenatal care to lessen the chance of birth complications.

Parents with a family history of the disorder or who have had another child with familial colpocephaly are advised to consult a genetic counselor to assess their risk if they plan to have another child.

Colpocephaly Caregiver Tips

• Be an advocate for your child. Learn all you can about colpocephaly so you can understand the challenges your child faces, and be prepared to educate others about what they can do to help and support you and your child.
• Remember that you’re not alone. Porencephaly is rare, and you may feel as if you’re the only one who knows what it’s like to live with the disorder. Connections with others who are going through the same thing can help. The Child Neurology Foundation maintains educational resources, access to one-to-one peer networks, and links to support groups.

Colpocephaly Brain Science

Many scientists believe that colpocephaly results from a neuronal migration disorder that arises during fetal brain development. In normal embryonic brain development, nerve cells move from where they originate to other areas in the brain in a process called neuronal migration. In their new locations, the cells differentiate and develop to form specialized brain structures.

During normal brain development, nerve cells migrate from the area around the ventricles to the brain’s outer surface, forming the cerebral cortex and the basal ganglia. However, in colpocephaly, some triggering event disrupts the process, and the nerve cells don’t move as they should. As a result, the rear portions of the lateral ventricles are enlarged.

Colpocephaly Research

Title: Human Epilepsy Genetics–Neuronal Migration Disorders Study

Stage: Recruiting

Principal investigator: Christopher A. Walsh, MD, PhD

Boston Children’s Hospital

Boston, MA

The purpose of this study is to identify genes responsible for epilepsy and disorders of human cognition.

Epilepsy is responsible for tremendous long-term healthcare costs. Analysis of inherited epilepsy conditions has allowed for identifying several key genes active in the developing brain. Although many genetic abnormalities of the brain are rare and lethal, rapidly advancing knowledge of the structure of the human genome makes it a realistic goal to identify genes responsible for several other epileptic conditions.

This study aims to identify genes responsible for epilepsy and disorders of human cognition (EDHC). The Walsh Laboratory at the Children’s Hospital Boston and Beth Israel Deaconess Medical Center is looking for genes involved in brain development. Conditions that we study include brain malformations, such as polymicrogyria, lissencephaly, Walker-Warburg syndrome, heterotopias and cerebellar hypoplasia, and inherited disorders of cognition such as familial mental retardation and familial autism; people with these conditions also often have epilepsy. The structural brain abnormalities are usually diagnosed by brain MRI or sometimes CT scans. Adults and children with these conditions, and their family members, are invited to participate in our study. By comparing the DNA of individuals or families that carry EDHC to the DNA of people in the general population, it may be possible to learn more about the genetic bases of certain forms of EDHC.

Study participants must have a brain malformation or disorder of cognition such as mental retardation or autism in addition to epilepsy to take part in this research.

Title: Intensive Therapy for Children With Microcephaly, Hyperkinetic Movements, or Global Developmental Delay

Stage: Completed

National Institutes of Health Clinical Center

Bethesda, MD

This trial will consist of a clinical series of up to 50 children with Global Developmental Delay and concomitant microcephaly or hyperkinetic movements. All children will be assessed for psychomotor function using standardized assessments and goal-specific assessments, with the potential addition of neuroimaging assessment, before and after receiving an intensive burst of neuromotor therapy. The interventional effects will be explored by comparing the pre and post-interventional assessments and neuroimaging.

Up to 50 children between the ages of 6 months and 15 years will be recruited to participate in a burst of intensive neuromotor intervention in the form of Acquire therapy, delivered by the treatment team at Virginia Tech’s Neuromotor Research Clinic. All children will have a diagnosis of Global Developmental Delay, with concomitant microcephaly or hyperkinetic movements. The children will be assessed for psychomotor function before and after the treatment intervention, using a series of standardized and goal-specific assessments, with the possibility of additional neuroimaging assessments when possible. Acquire therapy is an intensive intervention because it is delivered with high intensity, wherein goal-directed behaviors are promoted at high levels of repetition and delivered at a high dose (4-6 hours a day) in an intensive burst of 3-4 weeks of 5 days a week treatment. Acquire therapy is an operant conditioning-based intervention delivered in a cycle of refinement, reinforcement, and repetition. It is play-based with activities selected to drive behavior toward goals specific to each child and selected based on each child’s interests and needs. As such, a specific protocol cannot be outlined. However, all goal-directed activities are designed to promote awareness of and engagement with others and the environment.