The prognosis for individuals with schizencephaly varies depending on the size of the clefts and the degree of neurological deficit.

Diagnosing colpocephaly prenatally is difficult because in many cases signs start to appear after birth. Prenatal diagnosis is made by detecting enlargement of either or both occipital horns of the lateral ventricles. Usually prenatal ultrasounds don't show cephalic abnormalities and in cases that they do show abnormality is of low accuracy, making it difficult to diagnose colpocephaly. Often, abnormalities in prenatal ultrasounds can be misdiagnosed as hydrocephalus.

After birth, MR imaging can be done to look for cephalic abnormalities. This is the most commonly used method for diagnosing colpocephaly. Physicians look for abnormally large occipital horns of the lateral ventricles and diminished thickness of white matter. Spinal tapping is not a preferred method for diagnosis because newborn babies with colpocephaly or hydrocephaly have open fontanelles which makes it difficult to collect CSF. Also, colpocephaly is not associated with increased pressure.

Diagnosis may be delayed for several months because the infant's early behavior appears to be relatively normal. Transillumination, an examination in which light is passed through body tissues, can be used to diagnose hydranencephaly. An accurate, confirmed diagnosis is generally impossible until after birth, though prenatal diagnosis using fetal ultrasonography (ultrasound) can identify characteristic physical abnormalities that exist. Through thorough clinical evaluation, via physical findings, detailed patient history, and advanced imaging techniques, such as angiogram, computerized tomography (CT scan), magnetic resonance imaging (MRI), or more rarely transillumination after birth are the most accurate diagnostic techniques. However, diagnostic literature fails to provide a clear distinction between severe obstructive hydrocephalus and hydranencephaly, leaving some children with an unsettled diagnosis.

Preliminary diagnosis may be made in utero via standard ultrasound, and can be confirmed with a standard anatomy ultrasound. This sometimes proves to provide a misdiagnosis of differential diagnoses including bilaterally symmetric schizencephaly (a less destructive developmental process on the brain), severe hydrocephalus (cerebrospinal fluid excess within the skull), and alobar holoprosencephaly (a neurological developmental anomaly). Once destruction of the brain is complete, the cerebellum, midbrain, thalami, basal ganglia, choroid plexus, and portions of the occipital lobes typically remain preserved to varying degrees. Though the cerebral cortex is absent, in most cases the fetal head remains enlarged due to the continued production by the choroid plexus of cerebrospinal fluid that is inadequately reabsorbed causing increased intracranial pressure.

In some cases, the defect is linked to mutations of the EMX2, SIX3, and Collagen, type IV, alpha 1 genes. Because having a sibling with schizencephaly has been statistically shown to increase risk of the disorder, it is possible that there is a heritable genetic component to the disease.

The prognosis for children with NMDs varies depending on the specific disorder and the degree of brain abnormality and subsequent neurological signs and symptoms.

Tests for neural tube defects include ultrasound examination and measurement of maternal serum alpha-fetoprotein (MSAFP). Second trimester ultrasound is recommended as the primary screening tool for NTDs, and MSAFP as a secondary screening tool. This is due to increased safety, increased sensitivity and decreased false positive rate of ultrasound as compared to MSAFP. Amniotic fluid alpha-fetoprotein (AFAFP) and amniotic fluid acetylcholinesterase (AFAChE) tests are also used to confirming if ultrasound screening indicates a positive risk. Often, these defects are apparent at birth, but acute defects may not be diagnosed until much later in life. An elevated MSAFP measured at 16–18 weeks gestation is a good predictor of open neural tube defects, however the test has a very high false positive rate, (2% of all women tested in Ontario, Canada between 1993 and 2000 tested positive without having an open neural tube defect, although 5% is the commonly quoted result worldwide) and only a portion of neural tube defects are detected by this screen test (73% in the same Ontario study). MSAFP screening combined with routine ultrasonography has the best detection rate although detection by ultrasonography is dependent on operator training and the quality of the equipment.

MRI will help with the diagnosis of structural abnormality of the brain. Genetic testing may also be pursued.

Treatment is symptomatic, and may include anti-seizure medication and special or supplemental education consisting of physical, occupational, and speech therapies.

There is no standard treatment for hydranencephaly. Treatment is symptomatic and supportive. Hydrocephalus may be treated with surgical treatment of a shunt, which often grants a much better prognosis and greater quality of life.

The prognosis for children with hydranencephaly is generally quite poor. Death often occurs in the first year of life, but other children may live several years.

Medical text identifies that hydranencephalic children simply have only their brain stem function remaining, thus leaving formal treatment options as symptomatic and supportive. Severe hydrocephalus causing macrocephaly, a larger than average head circumference, can easily be managed by placement of a shunt and often displays a misdiagnosis of another lesser variation of cephalic condition due to the blanketing nature of hydrocephalus. Plagiocephaly, the asymmetrical distortion of the skull, is another typical associated condition that is easily managed through positioning and strengthening exercises to prevent torticollis, a constant spasm or extreme tightening of the neck muscles.

MRI is one of the best techniques that can detect the lesions in the brain of the FCMS that some of the times are missed by just using a Computer-Tomography Scan. Also, this type of imaging can reveal right frontal lobes contusions encompassing the anterior operculum, the premotor area, and the association area.

Scanning techniques include EEG, SPECT, MRI, and CT brain scanning. These additional techniques are useful in determining what type of lesion the patient has, and allows physicians to determine more effective ways in treating the patient.

In 1996, the United States Food and Drug Administration published regulations requiring the addition of folic acid to enriched breads, cereals, flour and other grain products. It is important to note that during the first four weeks of pregnancy (when most women do not even realize that they are pregnant), adequate folate intake is essential for proper operation of the neurulation process. Therefore, women who could become pregnant are advised to eat foods fortified with folic acid or take supplements in addition to eating folate-rich foods to reduce the risks of serious birth defects.

In Canada, mandatory fortification of selected foods with folic acid has been shown to reduce the incidence of neural tube defects by 46%.

Women who may become pregnant are advised to get 400 micrograms of folic acid daily. Women who have previously given birth to a child with a neural tube defect may benefit from a supplement containing 4.0 mg/5.0 mg in the UK mg daily, following advice provided by their doctor.

In utero exposure to cocaine and other street drugs can lead to septo-optic dysplasia.

The table below demonstrates the extensive and differential diagnosis of acquired epileptic aphasia along with Cognitive and Behavioral Regression:

Note: EEG = electroencephalographic; ESES = electrical status epilepticus of sleep; RL = receptive language; S = sociability

- Continuous spike and wave of slow-wave sleep (>85% of slow-wave sleep).

Where known, the ICD-10 code is listed below.

- Anencephaly (Q00.0)

- Colpocephaly (ICD10 unknown)

- Holoprosencephaly (Q04.2)

- Ethmocephaly (ICD10 unknown)

- Hydranencephaly (Q04.3)

- Iniencephaly (Q00.2)

- Lissencephaly (Q04.3)

- Megalencephaly (Q04.5)

- Microcephaly (Q02)

- Porencephaly (Q04.6)

- Schizencephaly (Q04.6)

Cephalic disorders (from the Greek word "κεφάλι", meaning "head") are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system. Cephalic means "head" or "head end of the body."

Cephalic disorders are not necessarily caused by a single factor, but may be influenced by hereditary or genetic conditions, nutritional deficiencies, or by environmental exposures during pregnancy, such as medication taken by the mother, maternal infection, or exposure to radiation. Some cephalic disorders occur when the cranial sutures (the fibrous joints that connect the bones of the skull) join prematurely. Most cephalic disorders are caused by a disturbance that occurs very early in the development of the fetal nervous system.

The human nervous system develops from a small, specialized plate of cells on the surface of the embryo. Early in development, this plate of cells forms the neural tube, a narrow sheath that closes between the third and fourth weeks of pregnancy to form the brain and spinal cord of the embryo. Four main processes are responsible for the development of the nervous system: cell proliferation, the process in which nerve cells divide to form new generations of cells; cell migration, the process in which nerve cells move from their place of origin to the place where they will remain for life; cell differentiation, the process during which cells acquire individual characteristics; and cell death, a natural process in which cells die.

Damage to the developing nervous system is a major cause of chronic, disabling disorders and, sometimes, death in infants, children, and even adults. The degree to which damage to the developing nervous system harms the mind and body varies enormously. Many disabilities are mild enough to allow those afflicted to eventually function independently in society. Others are not. Some infants, children, and adults die, others remain totally disabled, and an even larger population is partially disabled, functioning well below normal capacity throughout life.

The National Institute of Neurological Disorders and Stroke (NINDS) is currently "conducting and supporting research on normal and abnormal brain and nervous system development."

The syndrome can be difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/verbal processing disorder, attention deficit hyperactivity disorder, intellectual disability, childhood schizophrenia, or emotional/behavioral problems. An EEG (electroencephalogram) test is imperative to a diagnosis. Many cases of patients exhibiting LKS will show abnormal electrical brain activity in both the right and left hemispheres of the brain; this is exhibited frequently during sleep. Even though an abnormal EEG reading is common in LKS patients, a relationship has not been identified between EEG abnormalities and the presence and intensity of language problems. In many cases however, abnormalities in the EEG test has preceded language deterioration and improvement in the EEG tracing has preceded language improvement (this occurs in about half of all affected children). Many factors inhibit the reliability of the EEG data: neurologic deficits do not closely follow the maximal EEG changes in time.

The most effective way of confirming LKS is by obtaining overnight sleep EEGs, including EEGs in all stages of sleep. Many conditions like demyelination and brain tumors can be ruled out by using magnetic resonance imaging (MRI). In LKS, fluorodeoxyglucose (FDG) and positron emission tomography (PET) scanning can show decreased metabolism in one or both temporal lobes - hypermetabolism has been seen in patients with acquired epileptic aphasia.

Most cases of LKS do not have a known cause. Occasionally, the condition may be induced secondary to other diagnoses such as low-grade brain tumors, closed-head injury, neurocysticercosis, and demyelinating disease. Central Nervous System vasculitis may be associated with this condition as well.

Developmental regression is when a child loses an acquired function or fails to progress beyond a prolonged plateau after a period of relatively normal development. Developmental regression could be due to metabolic disorders, progressive hydrocephalus, worsening of seizures, increased spasticity, worsening of movement disorders or parental misconception of acquired milestones. The timing of onset of developmental regression can be established by repeated medical evaluations, prior photographs and home movies. Whether the neurologic decline is predominantly affecting the gray matter or the white matter of the brain needs to be ascertained. Seizures or EEG changes, movement disorders, blindness with retinal changes, personality changes and dementia are features suggestive of grey matter involvement.

ONH is diagnosed by ophthalmoscopic examination. Patients with ONH exhibit an optic nerve that appears smaller than normal and different in appearance from small optic nerves caused by other eye conditions such as optic (nerve) atrophy.

DM:DD ratio has proven to be a clinically useful measurement to help diagnose optic nerve hypoplasia. Where "DM" represents the distance from Disk to Macula, and "DD" represents Disc Diameter.

The mean disc diameter (DD) is (Vertical diameter of Disc+Horizontal diameter of Disc)divided by 2. The distance between the center of the disc and the macula is DM.

"Interpretation:" When the ratio of DM to DD is greater than 3, ONH is suspected, and when it is greater than 4, Optic Nerve Hypoplasia is definite.

The visual prognosis in optic nerve hypoplasia is quite variable. Occasionally, optic nerve hypoplasia may be compatible with near-normal vision; in other cases, one or both eyes may be functionally, or legally blind. Although most patients with only optic nerve involvement lead normally productive lives, those with accompanying endocrine dysfunction or other midline cerebral abnormalities are more at risk for on-going intellectual and other disabilities.

In cases of acute AOS (stroke), spontaneous recovery may occur, in which previous speech abilities reappear on their own. All other cases of acquired AOS require a form of therapy; however the therapy varies with the individual needs of the patient. Typically, treatment involves one-on-one therapy with a speech language pathologist (SLP). For severe forms of AOS, therapy may involve multiple sessions per week, which is reduced with speech improvement. Another main theme in AOS treatment is the use of repetition in order to achieve a large amount of target utterances, or desired speech usages.

There are various treatment techniques for AOS. One technique, called the Linguistic Approach, utilizes the rules for sounds and sequences. This approach focuses on the placement of the mouth in forming speech sounds. Another type of treatment is the Motor-Programming Approach, in which the motor movements necessary for speech are practiced. This technique utilizes a great amount of repetition in order to practice the sequences and transitions that are necessary in between production of sounds.

Research about the treatment of apraxia has revealed four main categories: articulatory-kinematic, rate/rhythm control, intersystemic facilitation/reorganization treatments, and alternative/augmentative communication.

- Articulatory-kinematic treatments almost always require verbal production in order to bring about improvement of speech. One common technique for this is modeling or repetition in order to establish the desired speech behavior. Articulatory-kinematic treatments are based on the importance of patients to improve spatial and temporal aspects of speech production.

- Rate and rhythm control treatments exist to improve errors in patients’ timing of speech, a common characteristic of Apraxia. These techniques often include an external source of control like metronomic pacing, for example, in repeated speech productions.

- Intersystemic reorganization/facilitation techniques often involve physical body or limb gestural approaches to improve speech. Gestures are usually combined with verbalization. It is thought that limb gestures may improve the organization of speech production.

- Finally, alternative and augmentative communication approaches to treatment of apraxia are highly individualized for each patient. However, they often involve a "comprehensive communication system" that may include "speech, a communication book aid, a spelling system, a drawing system, a gestural system, technologies, and informed speech partners".

One specific treatment method is referred to as PROMPT. This acronym stands for Prompts for Restructuring Oral Muscular Phonetic Targets, and takes a hands on multidimensional approach at treating speech production disorders. PROMPT therapists integrate physical-sensory, cognitive-linguistic, and social-emotional aspects of motor performance. The main focus is developing language interaction through this tactile-kinetic approach by using touch cues to facilitate the articulatory movements associated with individual phonemes, and eventually words.

One study describes the use of electropalatography (EPG) to treat a patient with severe acquired apraxia of speech. EPG is a computer-based tool for assessment and treatment of speech motor issues. The program allows patients to see the placement of articulators during speech production thus aiding them in attempting to correct errors. Originally after two years of speech therapy, the patient exhibited speech motor and production problems including problems with phonation, articulation, and resonance. This study showed that EPG therapy gave the patient valuable visual feedback to clarify speech movements that had been difficult for the patient to complete when given only auditory feedback.

While many studies are still exploring the various treatment methods, a few suggestions from ASHA for treating apraxia patients include the integration of objective treatment evidence, theoretical rationale, clinical knowledge and experience, and the needs and goals of the patient

Apraxia of speech can be diagnosed by a speech language pathologist (SLP) through specific exams that measure oral mechanisms of speech. The oral mechanisms exam involves tasks such as pursing lips, blowing, licking lips, elevating the tongue, and also involves an examination of the mouth. A complete exam also involves observation of the patient eating and talking. SLPs do not agree on a specific set of characteristics that make up the apraxia of speech diagnosis, so any of the characteristics from the section above could be used to form a diagnosis. Patients may be asked to perform other daily tasks such as reading, writing, and conversing with others. In situations involving brain damage, an MRI brain scan also helps identify damaged areas of the brain.

A differential diagnosis must be used in order to rule out other similar or alternative disorders. Although disorders such as expressive aphasia, conduction aphasia, and dysarthria involve similar symptoms as apraxia of speech, the disorders must be distinguished in order to correctly treat the patients. While AOS involves the motor planning or processing stage of speech, aphasic disorders can involve other language processes.

According to Ziegler et al., this difficulty in diagnosis derives from the unknown causes and function of the disorder, making it hard to set definite parameters for AOS identification. Specifically, he explains that oral-facial apraxia, dysarthria, and aphasic phonological impairment are the three distinctly different disorders that cause individuals to display symptoms that are often similar to those of someone with AOS, and that these close relatives must be correctly ruled out by a Speech Language Pathologist before AOS can be given as a diagnosis. In this way, AOS is a diagnosis of exclusion, and is generally recognized when all other similar speech sound production disorders are eliminated.

There are a variety of medical conditions affecting cognitive ability. This is a broad concept encompassing various intellectual or cognitive deficits, including intellectual disability, deficits too mild to properly qualify as intellectual disability, various specific conditions (such as specific learning disability), and problems acquired later in life through acquired brain injuries or neurodegenerative diseases like dementia. These disabilities may appear at any age.

The surgical treatment involves the resection of the extracranial venous package and ligation of the emissary communicating vein. In some cases of SP, surgical excision is performed for cosmetic reasons. The endovascular technique has been described by transvenous approach combined with direct puncture and the recently endovascular embolization with Onyx.