This mutation has produced a classification of brain overdevelopment that consists of two syndromes including megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH).

There are several neuropsychiatric disorders linked with megalencephaly; however, studies have shown that autism is the most prevalent association with the malformation of MEG.

The circumference of the head must be above the 97th percentile or at least 2 standard deviations from the mean of normal weight and gender groups, according to the World Health Organization recommendations.

[citation needed] Recent studies have shown that mutations in phosphoinositide 3-kinase (PI3K) and AKT (also known as protein kinase B) pathway have been identified in MCAP and MPPH.

This pathway has proven to be an integral part of brain growth and development and is an area of interest to many researchers who study the cause of megalencephaly.

Studies have shown that the protein is primarily active during early development and is believed to have a role in brain enlargement.

One medical study assessed three patients presenting megalencephaly who showed severely impaired motor and speech development as well as distinct facial abnormalities including skull bossing, a low nasal bridge and large eyes.

[20] Diagnosis of megalencephaly has changed over the years, however, with the development of more advanced equipment, physicians have been able to confirm the disorder with better accuracy.

These imaging tests give detailed information regarding brain size, volume asymmetry and other irregular developments linked with MCAP, MPPH and hemimegalencephaly.

[20] If a diagnosis of megalencephaly is confirmed, the child is referred to a specialist who focuses on managing the symptoms and improving lifestyle.

[citation needed] Since there are very few treatment methods focused on managing megalencephaly, future research is targeted at inhibiting mutation of the pathway.

[6] Even though very little research has been done to create inhibitors of the PI3K-AKT pathway, several pharmaceutical companies have begun to focus their interests in designing a prevention method for this purpose.

[6] There is currently no specific treatment for megalencephaly, however periodic head measurements may be assessed to determine the rate of brain growth.

The next step is to move to clinical trials involving humans in order to determine the exact genetic mutation causing the sequences.

Additionally, scientists and pharmaceutical companies have begun to show interest in mutation inhibition and designing preventative methods to eliminate the underlying cause of megalencephaly altogether.