What Is Schizencephaly

  • Ka Yin Chan BSc Cognitive Neuroscience and Psychology, University of Manchester

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Schizencephaly refers to a brain disorder cleft is produced in your brain as it develops.. People can be diagnosed with schizencephaly as early as in infancy. However, there are some cases with late presentation of schizencephaly. Symptoms vary between individuals but often include seizures, cognitive impairment and motor deficits. There is currently no cure for schizencephaly, however, treatments can be given depending on the symptoms experienced. 

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Introduction

What is schizencephaly?

Schizencephaly, as known as split brain, is a rare congenital brain disorder which occurs in early baby brain development within the first two to five months of gestation. Schizencephaly is a neuronal migration disorder where neurons startto migrate in early gestation, resulting in a cleft lined by heterotopic and dysplastic grey matter that is responsible for the connection between the surface of the cerebral hemisphere and the lateral ventricle. The cleft is filled with cerebrospinal fluid (CSF). This brain disorder is extremely rare with just 1.48 cases in 100,000 live births. 

Types of schizencephaly

  1. Type 1 – Trans-mantle schizencephaly

Trans-mantle schizencephaly refers to the condition where there is no CSF-filled cleft present in magnetic resonance imaging (MRI) scans. Instead, there is a trans-mantle column of abnormal grey matter. 

  1. Type 2 – Closed-lip schizencephaly

The cleft is filled with CSF but the lining lips of abnormal grey matter are next to and opposing each other. This prevents the flow of CSF.

  1. Type 3 – Open-lip schizencephaly

The cleft is also filled with CSF, but the lining lips of abnormal grey matter are not next to each other, allowing CSF to flow between the ventricular cavity and subarachnoid space. 

Causes of schizencephaly

The causes of schizencephaly are still yet to be determined. However, there are some possible factors that could explain this brain disorder. They include:

  • Prenatal exposure to teratogenic agents or viral infections
  • Genetics
  • Having a stroke when in utero
  • Young maternal age

Other than these factors, some environmental factors have also been suggested to be related to schizencephaly. These are:

  • Teratogens like alcohol, warfarin or cocaine
  • Viral infections like cytomegalovirus and Zika virus
  • Abortion attempts
  • Maternal trauma
  • Hypoxia in the eighth week of gestation
  • Amniocentesis or chorionic villus biopsy

It is also possible that gene mutation plays a role in the development of schizencephaly. The genes suggested in relation to schizencephaly are COL4A1 mutations, EMX2-germline mutations, SHH gene and SIX3 gene.

It is also suggested that abnormal type IV collagen that causes foetal intracranial haemorrhage is also one of the possible causes of schizencephaly. 

Diagnosis

Early diagnosis can have a profound impact on the well-being and quality of life of individuals affected by the condition. Here are several reasons why early diagnosis is crucial:

First of all, in terms of treatment and interventions, being diagnosed in the early stages allows immediate treatment and interventions tailored for the symptoms experienced. For example, appropriate medications and physical therapy can be given to people with schizencephaly for better management of seizures. Furthermore, not only can early diagnosis allow prompt treatment and interventions, it also allows the professional to assess the individual's condition and identify or even prevent any complications, like motor deficits and cognitive impairments related to schizencephaly in order to better control and monitor the disorder. Effective management of schizencephaly from early on potentially improves the long-term prognosis. This can help them live a better life and achieve their full potential. 

Early diagnosis can also be beneficial for developmental support. It allows early implementation of developmental and educational support. Early intervention services can also help children reach their developmental milestones more effectively.

In addition, early diagnosis provides families with access to information, resources, and support networks from early on. It can help them understand more about the condition from healthcare professionals and access services, like counselling and support groups, that can improve the overall family experience and reduce stress. Although it may be daunting finding out their loved ones with such conditions, early diagnosis gives them more time to cope with the emotional distress and be better prepared for the situation. 

Lastly, early diagnosis also has a good impact on future research. With more cases that can be studied from early on, the data collected can be used for research in the causes of schizencephaly and potentially developing a cure for it.

Neuroimaging studies

Magnetic resonance imaging, also known as MRI, is best for the diagnosis of schizencephaly as MRI scans can show better images of the grey matter. Computed tomography (CT) scans can also be used but to a lesser degree as it gives a lower resolution of the grey matter. For open-lip schizencephaly, ultrasonography can also be used during both prenatal and postnatal periods for diagnosis. 

Symptoms and effects

Symptoms of schizencephaly include partial seizures, cognitive impairment and motor deficits. However, the symptoms and their severity vary from person to person. Some people experience psychosis alongside schizencephaly. Motor deficits are also very common among people with schizencephaly. With mild developmental delay, people can get hemiparesis. However, with severe developmental delay, people can have serious cognitive impairment and quadriparesis. 

The severity of symptoms also depends on which type of schizencephaly people have. For closed-lip schizencephaly, people usually have milder symptoms with epileptic seizures and mild motor deficits. For open-lip schizencephaly, people have more serious symptoms including epileptic seizures, intellectual disability, and different degrees of paralysis. If people have schizencephaly on just one side of the brain (unilateral schizencephaly), they will experience hemiparesis, which means muscle weakness on one side of the body. On the other hand, people with schizencephaly on both sides of the brain (bilateral schizencephaly) will experience quadriparesis, which means they will experience muscle weakness in all four limbs. 

Treatment

Although there is not a cure for schizencephaly yet, various treatments are given to help with different symptoms. 

As most people with schizencephaly experience seizures, one of the treatments for schizencephaly is about managing seizures. Seizures can often be controlled and managed with medications, such as antiepileptic drugs. These medications have to be prescribed by the professionals. As the severity and type of seizures vary from person to person, the dosage and the type of medicine vary for everyone. Therefore, it is important to seek professional advice when getting these medications. 

The second treatment that can help alleviate the symptoms is physical therapy. Physical therapy can be very helpful for those experiencing motor deficits, since going to the physical therapy sessions can help them work on improving their strength, mobility and motor skills with the help of physical therapists. This kind of therapy can start as early as just one day old. With the aid of physical therapy from a very young age, their motor skills would greatly improve.

The third one is occupational therapy. Unlike physical therapy, occupational therapy helps people with schizencephaly to develop, improve and maintain skills for daily activities, such as self-care, fine motor tasks, and hand-eye coordination.

For some people with schizencephaly, they may experience difficulties in speaking and language. Speech and language therapy can help them improve their communication skills and facilitate language development.

As people with schizencephaly live a very different life than healthy individuals, educational support is vital for individuals with schizencephaly. They may need to go to schools that can accommodate their conditions and needs. 

As mentioned before, there are cases where individuals with schizencephaly experienced psychosis. Therefore, medications for coexisting conditions are needed. The medications prescribed to them depend on their conditions.

Since the severity of symptoms vary between individuals and the type of schizencephaly they have, where open-lip schizencephaly is often accompanied with more serious symptoms, individuals may benefit from various rehabilitation services, including physical rehabilitation, occupational rehabilitation, and cognitive rehabilitation.

Depending on what symptoms and their severity, various assistive devices, such as mobility aids, communication devices, and adaptive equipment, may be conducive to improving one’s independence and hence quality of life. 

As schizencephaly is a very rare disorder, people diagnosed with it may find it difficult to cope with,  since it is difficult for them to find someone with similar experience. Psychological support and counselling can help them deal with their mental challenges. This is not only applicable to the patients themselves, their families may also find themselves struggling with their loved ones experiencing schizencephaly. Psychological support and counselling can help teach them how to better cope with their emotional problems and improve quality of life.

It is also important to have regular monitoring and follow-up. Once there is any change in the symptoms, different treatments may have a better efficacy. It is vital to have the progress checked and assessed with various tests to keep track of the development of the disorder.

Summary

To summarise, schizencephaly is a rare neuronal migration disorder that often happens in babies’ early brain development. The causes are still unclear but it is suggested that gene mutations and environmental factors may have an active role in the development of schizencephaly. The symptoms often include seizures, motor deficits and cognitive impairment. However, the severity and types of symptoms vary from person to person. Although there is currently no cure for schizencephaly , there are medications and treatments tailored for the symptoms one experiences to help maintain everyday activities. I believe one day, with further research and development, the actual causes of schizencephaly will be unveiled and a cure for this disorder will be developed. 

Reference

  1. Halabuda A, Klasa L, Kwiatkowski S, Wyrobek L, Milczarek O, Gergont A. Schizencephaly—diagnostics and clinical dilemmas. Child’s Nervous System [Internet]. 2015 [cited 2023 Oct 20];31(4):551. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359713/ 
  2. Veerapaneni P, Veerapaneni KD, Yadala S. Schizencephaly. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 [cited 2023 Oct 20]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK560913/ 
  3. Alexander RC, Patkar AA, Lapointe JS, Flynn SW, Honer WG. Schizencephaly associated with psychosis. Journal of Neurology, Neurosurgery & Psychiatry [Internet]. 1997 Sep 1 [cited 2023 Oct 20];63(3):373–5. Available from: https://jnnp.bmj.com/content/63/3/373 
  4. DPT LB PT. NAPA. 2023 [cited 2023 Oct 20]. Your guide to infant physical therapy - napa center. Available from: https://napacenter.org/baby-physical-therapy/ 

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Ka Yin Chan

BSc Cognitive Neuroscience and Psychology, University of Manchester

She is a Neuroscience student with strong interest in clinical research and medical communications. She believes that the ever-growing field of scientific research is crucial for understanding health and hence improve it.

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