Multiview videofluoroscopy is a radiographic technique, mostly to demonstrate the lateral and posterior wall of the pharynx. This is a questionable technique considering these children undergo radiographic examinations frequently. Also known is that children are more sensitive to radiographic examinations than adults. Most of the time barium is used in multiview videofluoroscopy. Besides the fact that videofluoroscopy provides an overview of the lateral and posterior walls of the pharynx, this technique also provides information about the length and movement of the soft palate, the posterior and the lateral walls.

A limitation of multiview videofluoroscopy is the possibility of misinterpreting certain shapes of gaps and anatomic structures.

The most frequently used diagnostic tools are videofluoroscopy and nasoendoscopy. Some studies conclude that the first step in the process of diagnosis is videofluoroscopy in combination with nasometry. Other studies show a favour for nasoendoscopy. But in general there is no preference for which tool should be used as a standard. Most studies conclude that it is necessary to make an individual decision on which diagnostic tool should be used.

A relatively new approach in the diagnosis is magnetic resonance imaging (MRI), which is noninvasive. MRI uses the property of nuclear magnetic resonance to image nuclei of atoms inside the body. MRI is non-radiographic and therefore can be repeated more often in short periods of time. In addition, different studies show that the MRI is better as a diagnostic tool than videofluoroscopy for visualizing the anatomy of the velopharynx.

On the contrary there are still a few limitations of the MRI. Firstly, artifacts can be shown on the images when the patient moves while imaging. Also artifacts will also be shown if the patient has orthodontic appliances. Secondly, the MRI is limited in children who are claustrophobic.

Furthermore, in the MRI scanner movement of the sphincter leads to artifacts on the images. Therefore, nasoendoscopy is still needed for information about the sphincter’s movement. Finally, the MRI is a more expensive diagnostic tool than the combination of nasoendoscopy and videofluoroscopy.

Because of these limits, MRI is currently not widely used. Overall, MRI is used for a “bird's eye view” of the child in the planning of the operation, but not in the progress of diagnosis.

A common method to treat Velopharyngeal insufficiency is pharyngeal flap surgery, where tissue from the back of the mouth is used to close part of the gap. Other ways of treating velopharyngeal insufficiency is by placing a posterior nasopharyngeal wall implant (commonly cartilage or collagen) or type of soft palate lengthening procedure (i.e. VY palatoplasty).

Traditionally, the diagnosis is made at the time of birth by physical examination. Recent advances in prenatal diagnosis have allowed obstetricians to diagnose facial clefts in utero with ultrasonography.

Clefts can also affect other parts of the face, such as the eyes, ears, nose, cheeks, and forehead. In 1976, Paul Tessier described fifteen lines of cleft. Most of these craniofacial clefts are even rarer and are frequently described as Tessier clefts using the numerical locator devised by Tessier.

In cases of muscle weakness or cleft palate, special exercises can help to strengthen the soft palate muscles with the ultimate aim of decreasing airflow through the nose and thereby increasing intelligibility. Intelligibility requires the ability to close the nasal cavity, as all English sounds, except "m", "n", and "ng", have airflow only through the mouth. Normally, by age three, a child can raise the muscles of the soft palate to close to nasal cavity.

Without the use of a technological aid, nasal emission is sometimes judged by listening for any turbulence that may be produced by the nasal airflow, as when there is a small velopharyngeal opening and there is some degree of mucous in the opening. More directly, methods recommended include looking for the fogging of a mirror held near the nares or listening through a tube, the other end of which is held in or near a nares opening.

There have been many attempts to use technological augmentation more than a mirror or tube to aid the speech pathologist or provide meaningful feedback to the person attempting to correct their hypernasality. Among the more successful of these attempts, the incompleteness of velopharyngeal closure during vowels and sonorants that causes nasal resonance can be estimated and displayed for evaluation or biofeedback in speech training through the nasalance of the voice, with nasalance defined as a ratio of acoustic energy at the nostrils to that at the mouth, with some form of acoustic separation present between the mouth and nose. In the nasalance measurement system sold by WEVOSYS, the acoustic separation is provided by a mask-tube system, nasalance measurement system sold by Kay-Pentax, the acoustic separation is provided by a solid flat partition held against the upper lip, while in the system sold by Glottal Enterprises the acoustic separation can be by either a solid flat partition or a two-chamber mask.

However, devices for measuring nasalance do not measure nasal emission during pressure consonants. Because of this, a means for measuring the degree of velopharyngeal closure in consonants is also needed. A commercially available device for making such measurements is the Perci-Sar system from Microtronics. The Nasality Visualization System from Glottal Enterprises allows both the measurement of Nasal Emission and Nasalance. In the presence of a cleft palate, either of these systems can be helpful in evaluating the need for an appliance or surgical intervention to close the cleft or the success of an appliance or a surgical attempt to close the cleft.

There are several methods for diagnosing hypernasality.

- A speech therapist listens to and records the child while analysing perceptual speech. In hypernasality, the child cannot produce oral sounds (vowels and consonants) correctly. Only the nasal sounds can be correctly produced. A hearing test is also desirable.

- A mirror is held beneath the nose while the child pronounces the vowels. Nasal air escape, and thus hypernasality, is indicated if the mirror fogs up.

- A pressure-flow technique is used to measure velopharyngeal orifice area during the speech. The patient must be at least three to four years old.

- A video nasopharyngeal endoscopy observes velopharyngeal function, movements of the soft palate, and pharyngeal walls. It utilises a very small scope placed in the back of the nasal cavity. The doctor will then ask the child to say a few words. The patient must be at least three to four years old to ensure cooperation.

- A cinefluoroscopy gives dynamic visualisation and can easier be applied to younger children, though it has the disadvantage of exposing the patient to radiation.

- A nasometer calculates the ratio of nasality. The patient wears a headset, where the oral and nasal cavities are separated by a plate. On both sides of the plate are microphones. The ratio calculated by the nasometer indicates the amount of nasality, with a higher ratio indicating more nasality.

Note that each individual patient's schedule is treated on a case-by-case basis and can vary per hospital. The table below shows a common sample treatment schedule. The colored squares indicate the average timeframe in which the indicated procedure occurs. In some cases this is usually one procedure (for example lip repair) in other cases this is an ongoing therapy (for example speech therapy).

Different terms can be used to describe this phenomenon in addition to “velopharyngeal inadequacy”. These terms and definitions are as follows:

- Velopharyngeal insufficiency: The inability of the velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.

- Velopharyngeal incompetency occurs when the soft palate and the lateral/posterior pharyngeal walls fail to separate the oral cavity from the nasal cavity during speech.

Although the definitions are similar, the etiologies correlated with each term differ slightly; however, in the field of medical professionals these terms are typically used interchangeably. Velopharyngeal inadequacy is the generic term most often used to describe the functionality of the velopharyngeal valve.

The following procedures may be used to diagnose VUR:

- Cystography

- Fluoroscopic voiding cystourethrogram (VCUG)

- Abdominal ultrasound

- Technetium-99m Dimercaptosuccunic Acid (DMSA) Scintigraphy

An abdominal ultrasound might suggest the presence of VUR if ureteral dilatation is present; however, in many circumstances of VUR of low to moderate, even high severity, the sonogram may be completely normal, thus providing insufficient utility as a single diagnostic test in the evaluation of children suspected of having VUR, such as those presenting with prenatal hydronephrosis or urinary tract infection (UTI).

VCUG is the method of choice for grading and initial workup, while RNC is preferred for subsequent evaluations as there is less exposure to radiation. A high index of suspicion should be attached to any case where a child presents with a urinary tract infection, and anatomical causes should be excluded. A VCUG and abdominal ultrasound should be performed in these cases

DMSA scintigraphy is used for the evaluation of the paranchymal damage, which is seen as cortical scars. After the first febrile UTI, the diagnostic role of an initial scintigraphy for detecting the damage before the VCUG was investigated and it was suggested that VCUG can be omitted in children who has no cortical scars and urinary tract dilatation.

Early diagnosis in children is crucial as studies have shown that the children with VUR who present with a UTI and associated acute pyelonephritis are more likely to develop permanent renal cortical scarring than those children without VUR, with an odds ratio of 2.8. Thus VUR not only increases the frequency of UTI's, but also the risk of damage to upper urinary structures and end-stage renal disease.

The younger the patient and the lower the grade at presentation the higher the chance of spontaneous resolution. Approximately 85% of grade I & II VUR cases will resolve spontaneously. Approximately 50% of grade III cases and a lower percentage of higher grades will also resolve spontaneously.

Individuals with Nager syndrome typically have the malformations of the auricle, external auditory canal, and middle ear, including the ossicles. These malformations were found in 80% of individuals with Nager syndrome. Inner ear malformations, however, are not typically seen in this population. Middle ear disease is common among individuals with Nager syndrome. Chronic otitis media and Eustachian tube deformity can result in conductive hearing loss. For this reason, early detection and treatment for middle ear disease is crucial in this population. Sensorineural hearing loss is not a typical characteristic of Nager syndrome; however, a subset of individuals present with a mixed hearing loss, due to a progressive sensorineural component combined with the typical conductive hearing loss (Herrman "et al.", 2005).

Hearing loss with craniofacial syndromes is a common occurrence. Many of these multianomaly disorders involve structural malformations of the outer or middle ear, making a significant hearing loss highly likely.

In 2006, the U.S. Department of Education indicated that more than 1.4 million students were served in the public schools' special education programs under the speech or language impairment category of IDEA 2004. This estimate does not include children who have speech/language problems secondary to other conditions such as deafness; this means that if all cases of speech or language impairments were included in the estimates, this category of impairment would be the largest. Another source has estimated that communication disorders—a larger category, which also includes hearing disorders—affect one of every 10 people in the United States.

ASHA has cited that 24.1% of children in school in the fall of 2003 received services for speech or language disorders—this amounts to a total of 1,460,583 children between 3 –21 years of age. Again, this estimate does not include children who have speech/language problems secondary to other conditions. Additional ASHA prevalence figures have suggested the following:

- Stuttering affects approximately 4% to 5% of children between the ages of 2 and 4.

- ASHA has indicated that in 2006:

- Almost 69% of SLPs served individuals with fluency problems.

- Almost 29% of SLPs served individuals with voice or resonance disorders.

- Approximately 61% of speech-language pathologists in schools indicated that they served individuals with SLI

- Almost 91% of SLPs in schools indicated that they servedindividuals with phonological/articulation disorder

- Estimates for language difficulty in preschool children range from 2% to 19%.

- Specific Language Impairment (SLI) is extremely common in children, and affects about 7% of the childhood population.

Modeling EEC syndrome in vitro has been achieved by reprogramming EEC fibroblasts carrying mutations R304W and R204W into induced pluripotent stem cell (iPSC) lines. EEC-iPSC recapitulated defective epidermal and corneal fates. This model further identified PRIMA-1MET, a small compound that was identified as a compound targeting and reactivating p53 mutants based on a cell-based screening for rescuing the apoptotic activity of p53, as efficient to rescue R304W mutation defect. Of interest, similar effect had been observed on keratinocytes derived from the same patients. PRIMA-1MET could become an effective therapeutic tool for EEC patients.

Further genetic research is necessary to identify and rule out other possible loci contributing to EEC syndrome, though it seems certain that disruption of the p63 gene is involved to some extent. In addition, genetic research with an emphasis on genetic syndrome differentiation should prove to be very useful in distinguishing between syndromes that present with very similar clinical findings. There is much debate in current literature regarding clinical markers for syndromic diagnoses. Genetic findings could have great implications in clinical diagnosis and treatment of not only EEC, but also many other related syndromes.

In patients who are at high likelihood of having OSA, a randomized controlled trial found that home oximetry (a non-invasive method of monitoring blood oxygenation) may be adequate and easier to obtain than formal polysomnography. High probability patients were identified by an Epworth Sleepiness Scale (ESS) score of 10 or greater and a Sleep Apnea Clinical Score (SACS) of 15 or greater. Home oximetry, however, does not measure apneic events or respiratory event-related arousals and thus does not produce an AHI value.

Speech-language pathologists (SLPs) offer many services to children with speech or language disabilities.

Although LFS is usually suspected when intellectual disability and marfanoid habitus are observed together in a patient, the diagnosis of LFS can be confirmed by the presence of the p.N1007S missense mutation in the "MED12" gene.

Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome (also known as "Split hand–split foot–ectodermal dysplasia–cleft syndrome") is a rare form of ectodermal dysplasia, an autosomal dominant disorder inherited as an genetic trait. EEC is characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefts. Other features noted in association with EEC include vesicoureteral reflux, recurrent urinary tract infections, obstruction of the nasolacrimal duct, decreased pigmentation of the hair and skin, missing or abnormal teeth, enamel hypoplasia, absent punctae in the lower eyelids, photophobia, occasional cognitive impairment and kidney anomalies, and conductive hearing loss.

In the differential diagnosis of LFS, another disorder that exhibits some features and symptoms of LFS and is also associated with a missense mutation of "MED12" is Opitz-Kaveggia syndrome (FGS). Common features shared by both LFS and FGS include X-linked intellectual disability, hyperactivity, macrocephaly, corpus callosum agenesis and hypotonia. Notable features of FGS that have not been reported with LFS include excessive talkativness, consistent strength in socialization skills, imperforate anus (occlusion of the anus) and ocular hypertelorism (extremely wide-set eyes).

Whereas LFS is associated with missense mutation p.N1007S, FGS is associated with missense mutation p.R961W. As both disorders originate from an identical type of mutation in the same gene, while exhibiting similar, yet distinct characteristics; LFS and FGS are considered to be allelic. In the context of "MED12", this suggests that the phenotype of each disorder is related to the way in which their respective mutations alter the "MED12" sequence and its function.

Diagnosis of 22q11.2 deletion syndrome can be difficult due to the number of potential symptoms and the variation in phenotypes between individuals. It is suspected in patients with one or more signs of the deletion. In these cases a diagnosis of 22q11.2DS is confirmed by observation of a deletion of part of the long arm (q) of chromosome 22, region 1, band 1, sub-band 2. Genetic analysis is normally performed using fluorescence "in situ" hybridization (FISH), which is able to detect microdeletions that standard karyotyping (e.g. G-banding) miss. Newer methods of analysis include Multiplex ligation-dependent probe amplification assay (MLPA) and quantitative polymerase chain reaction (qPCR), both of which can detect atypical deletions in 22q11.2 that are not detected by FISH. qPCR analysis is also quicker than FISH, which can have a turn around of 3 to 14 days.

A 2008 study of a new high-definition MLPA probe developed to detect copy number variation at 37 points on chromosome 22q found it to be as reliable as FISH in detecting normal 22q11.2 deletions. It was also able to detect smaller atypical deletions that are easily missed using FISH. These factors, along with the lower expense and easier testing mean that this MLPA probe could replace FISH in clinical testing.

Genetic testing using BACs-on-Beads has been successful in detecting deletions consistent with 22q11.2DS during prenatal testing. Array-comparative genomic hybridization (array-CGH) uses a large number of probes embossed in a chip to screen the entire genome for deletions or duplications. It can be used in post and pre-natal diagnosis of 22q11.2.

Fewer than 5% of individuals with clinical symptoms of the 22q11.2 deletion syndrome have normal routine cytogenetic studies and negative FISH testing. In these cases, atypical deletions are the cause. Some cases of 22q11.2 deletion syndrome have defects in other chromosomes, notably a deletion in chromosome region 10p14.

The most widely used current therapeutic intervention is "positive airway pressure" whereby a breathing machine pumps a controlled stream of air through a mask worn over the nose, mouth, or both. The additional pressure holds open the relaxed muscles. There are several variants:

- Continuous positive airway pressure (CPAP) is effective for both moderate and severe disease. It is the most common treatment for obstructive sleep apnea.

- Variable positive airway pressure (VPAP) (also known as bilevel (BiPAP or BPAP)) uses an electronic circuit to monitor the patient's breathing, and provides two different pressures, a higher one during inhalation and a lower pressure during exhalation. This system is more expensive, and is sometimes used with patients who have other coexisting respiratory problems and/or who find breathing out against an increased pressure to be uncomfortable or disruptive to their sleep.

- Nasal EPAP, which is a bandage-like device placed over the nostrils that utilizes a person's own breathing to create positive airway pressure to prevent obstructed breathing.

- Automatic positive airway pressure, or "automatic positive airway pressure", also known as "Auto CPAP", incorporates pressure sensors and monitors the person's breathing.

- A 5% reduction in weight among those with moderate to severe OSA may decrease symptoms similarly to CPAP.

"Oral appliances" or splints are often preferred but may not be as effective as CPAP. This device is a mouthguard similar to those used in sports to protect the teeth. It is designed to hold the lower jaw slightly down and forward relative to the natural, relaxed position. This position holds the tongue farther away from the back of the airway and may be enough to relieve apnea or improve breathing.

Many people benefit from sleeping at a "30-degree elevation" of the upper body or higher, as if in a recliner. Doing so helps prevent the gravitational collapse of the airway. Sleeping on a side as opposed to sleeping on the back is also recommended.

Some studies have suggested that "playing a wind instrument": may reduce snoring and apnea incidents. This may be especially true of double reed instruments.

Several criteria are typically used to make a diagnosis of koro. The primary criteria is a patient's report of genital (typically penile or female nipple) retraction despite a lack of objective physical evidence demonstrating retraction. This is accompanied by severe anxiety related to the retraction, fear of death as a result of retraction, and use of mechanical means to prevent retraction. Cases that do not meet all the requirements are generally classified as koro-like symptoms or given a diagnosis of partial koro syndrome. It has been argued that the criteria are sufficient but not necessary to make a diagnosis of koro. Researchers have identified Koro as a possible "cultural relative" of Body Dysmorphic Disorder. DSM-IV explains the process of differential diagnosis between these two disorders.

A full medical, psychosexual and psychiatric history should be documented. The physician should explore the patient’s concerns about appearance and body image (ruling out body dysmorphic disorder). Additionally, the physician should inquire about overall beliefs, personal values, and assumptions that the patient is making about his or her genitals. Given that Koro is often an “attack” with a great deal of associated anxiety, the physician should ascertain the patient’s emotional state along with the timeline from onset to the presentation at the examination.

A physical examination should involve an assessment of overall health along with a detailed genital examination. In men, genital examination should be performed immediately after penile exposure, to avoid changes due to external temperature. The primary intent of the male exam is to exclude genuine penile anomalies such as hypospadias, epispadias and Peyronie's disease. The presence of a significant suprapubic fat pad should be noted as well. Careful measurements of flaccid length, stretched length and flaccid girth will also be useful. If male patients insist that their penis is shrinking and disappearing, measurements after intracavernosal alprostadil may be used in the office to determine the true erect length and to diagnose any penile abnormalities in the erect state. A physical examination should note any injuries inflicted by the patient in an effort to "prevent" retraction as further confirmation of Koro.

No cure is known for 22q11.2 deletion syndrome. Certain individual features are treatable using standard treatments. The key is to identify each of the associated features and manage each using the best available treatments.

For example, in children, it is important that the immune problems are identified early, as special precautions are required regarding blood transfusion and immunization with live vaccines. Thymus transplantation can be used to address absence of the thymus in the rare, so-called "complete" 22q11.2 deletion syndrome. Bacterial infections are treated with antibiotics. Cardiac surgery is often required for congenital heart abnormalities. Hypoparathyroidism causing hypocalcaemia often requires lifelong vitamin D and calcium supplements. Specialty clinics that provide multi-system care allow for individuals with 22q11.2 deletion syndrome to be evaluated for all of their health needs and allow for careful monitoring of the patients. An example of this type of system is the 22q Deletion Clinic at SickKids Hospital in Toronto, Canada, which provides children with 22q11 deletion syndrome ongoing support, medical care and information from a team of health care workers.

Because the causes of CP are varied, a broad range of preventative interventions have been investigated.

Electronic fetal monitoring has not helped to prevent CP, and in 2014 the American College of Obstetricians and Gynecologists, the Royal Australian and New Zealand College of Obstetricians and Gynaecologists, and the Society of Obstetricians and Gynaecologists of Canada have acknowledged that there are no long-term benefits of electronic fetal monitoring. Prior to this, electronic fetal monitoring was widely used to prop up obstetric litigation.

In those at risk of an early delivery, magnesium sulphate appears to decrease the risk of cerebral palsy. It is unclear if it helps those who are born at term. In those at high risk of preterm labor a review found that moderate to severe CP was reduced by the administration of magnesium sulphate, and that adverse effects on the babies from the magnesium sulphate were not significant. Mothers who received magnesium sulphate could experience side effects such as respiratory depression and nausea. Caffeine is used to treat apnea of prematurity and reduces the risk of cerebral palsy in premature babies, but there are also concerns of long term negative effects. A moderate level of evidence has been shown for giving women antibiotics during preterm labour when their waters had not broken was associated with an increased risk of cerebral palsy in the child. Additionally, allowing a preterm birth to proceed rather than trying to delay the birth also had a moderate level of evidence for increased risk of cerebral palsy in the child.

Cooling high-risk full-term babies shortly after birth may reduce disability, but this may only be useful for some forms of the brain damage that causes CP.