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The main objective of physical treatment is to achieve adequate velopharyngeal (VP) function and normal oral-nasal resonance.
Prostheses are used for nonsurgical closure in a situation of velopharyngeal dysfunction. There are two types of prosthesis: the speech bulb and the palatal lift prosthesis. The speech bulb is an acrylic body that can be placed in the velopharyngeal port and can achieve obstruction. The palatal lift prosthesis is comparable with the speech bulb, but with a metal skeleton attached to the acrylic body. This will also obstruct the velopharyngeal port. It is a good option for patients that have enough tissue but a poor control of the coordination and timing of velopharyngeal movement. It is also used in patients with contraindications for surgery. It has also been used as a reversible test to confirm whether a surgical intervention would help.
If a child finds it difficult to blow, pinching the nose can help regulate airflow. The child should then practice speech sounds without pinching the nose.
These exercises only work as treatments if hypernasality is small. Severe deviations should be treated surgically.
There is insufficient evidence to support the use of traditional non-speech oral motor exercises can reduce hypernasality. Velopharyngeal closure patterns and their underlying neuromotor control may differ for speech and nonspeech activities. Therefore, the increase in velar movement through blowing, sucking, and swallowing may not transfer to speech tasks. Thus, hypernasality remains while individual speak. Kuehn proposed a new way of treatment by using a CPAP machine during speech tasks. The positive pressure provided by a CPAP machine provides resistance to stregthen velopharyngeal muscles. With nasal mask in place, an individual is asked to produce VNCV syllables and short sentences. It is believed that CPAP therapy can increase both muscle endurance as well as strength because it overloads the levator veli palatini muscle and involves a regimen with a large number of repetitions of velar elevation. Research findings proved that patients with hypernasality due to flaccid dysarthria, TBI or cleft palate do eliminate hypernasality after receiving this training program.
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).
Cleft lip and palate is very treatable; however, the kind of treatment depends on the type and severity of the cleft.
Most children with a form of clefting are monitored by a "cleft palate team" or "craniofacial team" through young adulthood. Care can be lifelong. Treatment procedures can vary between craniofacial teams. For example, some teams wait on jaw correction until the child is aged 10 to 12 (argument: growth is less influential as deciduous teeth are replaced by permanent teeth, thus saving the child from repeated corrective surgeries), while other teams correct the jaw earlier (argument: less speech therapy is needed than at a later age when speech therapy becomes harder). Within teams, treatment can differ between individual cases depending on the type and severity of the cleft.
A craniofacial team is routinely used to treat this condition. The majority of hospitals still use craniofacial teams; yet others are making a shift towards dedicated cleft lip and palate programs. While craniofacial teams are widely knowledgeable about all aspects of craniofacial conditions, dedicated cleft lip and palate teams are able to dedicate many of their efforts to being on the cutting edge of new advances in cleft lip and palate care.
Many of the top pediatric hospitals are developing their own CLP clinics in order to provide patients with comprehensive multi-disciplinary care from birth through adolescence. Allowing an entire team to care for a child throughout their cleft lip and palate treatment (which is ongoing) allows for the best outcomes in every aspect of a child's care. While the individual approach can yield significant results, current trends indicate that team based care leads to better outcomes for CLP patients. .
Velopharyngeal inadequacy (VPI) is a malfunction of a velopharyngeal mechanism.
The velopharyngeal mechanism is responsible for directing the transmission of sound energy and air pressure in both the oral cavity and the nasal cavity. When this mechanism is impaired in some way, the valve does not fully close, and a condition known as 'velopharyngeal inadequacy' can develop. VPI can either be congenital or acquired later in life.
While there is no cure for JBS, treatment and management of specific symptoms and features of the disorder are applied and can often be successful. Variability in the severity of JBS on a case-by-case basis determines the requirements and effectiveness of any treatment selected.
Pancreatic insufficiency and malabsorption can be managed with pancreatic enzyme replacement therapy, such as pancrelipase supplementation and other related methods.
Craniofacial and skeletal deformities may require surgical correction, using techniques including bone grafts and osteotomy procedures. Sensorineural hearing loss can be managed with the use of hearing aids and educational services designated for the hearing impaired.
Special education, specialized counseling methods and occupational therapy designed for those with mental retardation have proven to be effective, for both the patient and their families. This, too, is carefully considered for JBS patients.
While there is no specific treatment for the underlying genetic cause of LFS; corrective procedures, preventive intervention measures and therapies may be considered in the treatment and management of the many craniofacial, orthopedic and psychiatric problems associated with the disorder. More pressing issues such as cardiac involvement or epileptic seizures should be routinely examined and monitored. Close attention and specialized follow-up care, including neuropshycological evaluation methods and therapies, and special education, should be given to diagnose and prevent psychiatric disorders and related behavioral problems such as psychosis and outbursts of aggression.
Evidence is insufficient to support the use of medications to treat obstructive sleep apnea. This includes the use of fluoxetine, paroxetine, acetazolamide and tryptophan among others.
Surgical treatments to modify airway anatomy, known as sleep surgery, are varied and must be tailored to the specific airway obstruction needs of a patient. Surgery is not considered a frontline treatment for obstructive sleep apnea, as prospective, randomized, comparative clinical evidence against current front line treatments is lacking. For those obstructive sleep apnea sufferers unable or unwilling to comply with front line treatment, a properly selected surgical intervention will be the result of considering an individual's specific anatomy and physiology, personal preference and disease severity. There is little randomized clinical trial evidence for all types of sleep surgery.
There are a number of different operations that may be performed including:
- Nasal surgery, including turbinectomy (removal or reduction of a nasal turbinate), or straightening of the nasal septum, in patients with nasal obstruction or congestion which reduces airway pressure and complicates OSA.
- Tonsillectomy and/or adenoidectomy in an attempt to increase the size of the airway.
- Removal or reduction of parts of the soft palate and some or all of the uvula, such as uvulopalatopharyngoplasty (UPPP) or laser-assisted uvulopalatoplasty ("LAUP"). Modern variants of this procedure sometimes use radiofrequency waves to heat and remove tissue.
- Reduction of the tongue base, either with laser excision or radiofrequency ablation.
- Genioglossus advancement, in which a small portion of the lower jaw that attaches to the tongue is moved forward, to pull the tongue away from the back of the airway.
- Hyoid suspension, in which the hyoid bone in the neck, another attachment point for tongue muscles, is pulled forward in front of the larynx.
- Maxillomandibular advancement
In the morbidly obese, a major loss of weight (such as what occurs after bariatric surgery) can sometimes cure the condition.
OSA in children is sometimes due to chronically enlarged tonsils and adenoids. Tonsillectomy and adenoidectomy are curative. The operation may be far from trivial, especially in the worst apnea cases, in which growth is retarded and abnormalities of the right heart may have developed. Even in these extreme cases, the surgery tends to cure not only the apnea and upper airway obstruction but allows normal subsequent growth and development. Once the high end-expiratory pressures are relieved, the cardiovascular complications reverse themselves. The postoperative period in these children requires special precautions (see "Surgery and obstructive sleep apnea syndrome" below).
Surgical treatment of CVI attempts a cure by physically changing the veins with incompetent valves. Surgical treatments for CVI include the following:
- Linton procedures (i.e. subfascial ligation of perforating veins in the lower extremity, an older treatment)
- Ligation. Tying off a vein to prevent blood flow
- Vein stripping. Removal of the vein.
- Surgical repair.
- Endovenous Laser Ablation
- Vein transplant.
- Subfascial endoscopic perforator surgery. Tying off the vein with an endoscope.
- Valve repair (experimental)
- Valve transposition (experimental)
- Hemodynamic surgeries.
Convergence insufficiency may be treated with convergence exercises prescribed by an eyecare specialist trained in orthoptics or binocular vision anomalies. Some cases of convergence insufficiency are successfully managed by prescription of eyeglasses, sometimes with therapeutic prisms.
Pencil push-ups therapy is performed at home. Patient brings a pencil slowly to within 2–3 cm of the eye just above the nose about 15 minutes per day 5 times per week. Patients should record the closest distance that they could maintain fusion (keep the pencil from going double as long as possible) after each 5 minutes of therapy. Computer software may be used at home or in an orthoptists/vision therapists office to treat convergence insufficiency. A weekly 60-minute in-office therapy visit may be prescribed. This is generally accompanied with additional in home therapy.
In 2005, the Convergence Insufficiency Treatment Trial (CITT) published two randomized clinical studies. The first, published in Archives of Ophthalmology demonstrated that computer exercises when combined with office based vision therapy/orthoptics were more effective than "pencil pushups" or computer exercises alone for convergency insufficiency in 9- to 18-year-old children. The second found similar results for adults 19 to 30 years of age. In a bibliographic review of 2010, the CITT confirmed their view that office-based accommodative/vergence therapy is the most effective treatment of convergence insufficiency, and that substituting it in entirety or in part with other eye training approaches such as home-based therapy may offer advantages in cost but not in outcome. A later study of 2012 confirmed that orthoptic exercises led to longstanding improvements of the asthenopic symptoms of convergence sufficiency both in adults and in children. A 2011 Cochrane Review reaffirmed that office-based therapy is more effective than home-based therapy, though the evidence of effectiveness is a lot stronger for children than for the adult population.
Both positive fusional vergence (PFV) and negative fusional vergence (NFV) can be trained, and vergence training should normally include both.
Surgical correction options are also available, but the decision to proceed with surgery should be made with caution as convergence insufficiency generally does not improve with surgery. Bilateral medial rectus resection is the preferred type of surgery. However, the patient should be warned about the possibility of uncrossed diplopia at distance fixation after surgery. This typically resolves within 1–3 months postoperatively. The exophoria at near often recurs after several years, although most patients remain asymptomatic.
Venous Insufficiency Conservative, Hemodynamic and Ambulatory treatment" is an ultrasound guided, minimally invasive surgery strategic for the treatment of varicose veins, performed under local anaesthetic. CHIVA is an abbreviation from the French "Cure Conservatrice et Hemodynamique de l'Insufficience Veineuse en Ambulatoire".
Pancreatic exocrine insufficiency may be treated through pancreatic enzyme supplementation, while severe skeletal abnormalities may require surgical intervention. Neutropenia may be treated with granulocyte-colony stimulating factor (GCSF) to boost peripheral neutrophil counts. However, there is ongoing and unresolved concern that this drug could contribute to the development of leukemia. Signs of progressive marrow failure may warrant bone marrow transplantation (BMT). This has been used successfully to treat hematological aspects of disease. However, SDS patients have an elevated occurrence of BMT-related adverse events, including graft-versus-host disease (GVHD) and toxicity relating to the pre-transplant conditioning regimen. In the long run, study of the gene that is mutated in SDS should improve understanding of the molecular basis of disease. This, in turn, may lead to novel therapeutic strategies, including gene therapy and other gene- or protein-based approaches.
Treatment modality depends on the cause. Tumors may be removed surgically, but pituitary stalk interruption may persist. Usually, replacement of those hormones that are reduced due to failed feedback control systems will be necessary.
Tricuspid valve stenosis itself usually doesn't require treatment. If stenosis is mild, monitoring the condition closely suffices. However, severe stenosis, or damage to other valves in the heart, may require surgical repair or replacement.
The treatment is usually by surgery (tricuspid valve replacement) or percutaneous balloon valvuloplasty. The resultant tricuspid regurgitation from percutaneous treatment is better tolerated than the insufficiency occurring during mitral valvuloplasty.
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.
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.
For patients where an appropriate match for a transplant cannot be found, there have been investigations into the use of gene therapy. Appropriate vectors are selected and modified to express wild type "ABCD1", which is then transplanted into the patients using a similar procedure as for a bone marrow or stem cell transplant. Gene therapy has only been tried on a small number of patients, mainly in France. These patients were only considered for gene therapy after there was no HLA match for a traditional transplant. In two reported cases, the gene therapy was successful, with a resolution of the demyelination process up to two years after the procedure. Although the gene therapy was successful in resolving the neurological symptoms, plasma VLCFA levels remained elevated.
A surgical treatment for AI is aortic valve replacement; this is currently an open-heart procedure. In the case of severe "acute" aortic insufficiency, all individuals should undergo surgery, if there are no absolute contraindications (for surgery). Individuals with bacteremia with aortic valve endocarditis should not wait for treatment with antibiotics to take effect, given the high mortality associated with the acute AI. Replacement with an aortic valve homograft should be performed if feasible.
While dietary therapy has been shown to be effective to normalize the very-long chain fatty acid concentrations in the plasma of individuals with ALD, allogeneic hematopoietic stem cell transplants is the only treatment that can stop demyelination that is the hallmark of the cerebral forms of the disease. In order to be effective, the transplant must be done at an early stage of the disease; if the demyelination has progressed, transplant can worsen the outcome, and increase the rate of decline. While transplants have been shown to be effective at halting the demyelination process in those presenting with the childhood cerebral form of ALD, follow-up of these patients has shown that it does not improve adrenal function.
In terms of treatment for tricuspid insufficiency prosthetic valve substitutes can be used, though artificial prostheses may cause thrombo‐embolic phenomena(bioprostheses may have a degeneration problem). Some evidence suggests that there are no significant differences between a mechanical or biological tricuspid valve in a recipient.
Generally, surgical treatment of tricuspid regurgitation is not indicated when it has arisen as a result of right ventricular dilatation. In such instances of secondary tricuspid regurgitation, the mainstay of therapy is medical. When left-sided heart failure is the cause, the individual is instructed to decrease intake of salt. Medications in this case may include diuretics and angiotensin-converting enzyme inhibitors.
The treatment of mitral insufficiency depends on the acuteness of the disease and whether there are associated signs of hemodynamic compromise.
In acute MI secondary to a mechanical defect in the heart (i.e., rupture of a papillary muscle or chordae tendineae), the treatment of choice is mitral valve surgery. If the patient is hypotensive prior to the surgical procedure, an intra-aortic balloon pump may be placed in order to improve perfusion of the organs and to decrease the degree of MI.
If the individual with acute MI is normotensive, vasodilators may be of use to decrease the afterload seen by the left ventricle and thereby decrease the regurgitant fraction. The vasodilator most commonly used is nitroprusside.
Individuals with chronic MI can be treated with vasodilators as well to decrease afterload. In the chronic state, the most commonly used agents are ACE inhibitors and hydralazine. Studies have shown that the use of ACE inhibitors and hydralazine can delay surgical treatment of mitral insufficiency. The current guidelines for treatment of MI limit the use of vasodilators to individuals with hypertension, however. Any hypertension is treated aggressively, e.g. by diuretics and a low-sodium diet. In both hypertensive and normotensive cases, digoxin and antiarrhythmics are also indicated. Also, chronic anticoagulation is given where there is concomitant mitral valve prolapse or atrial fibrillation. In general, medical therapy is non-curative and is used for mild-to-moderate regurgitation or in patients unable to tolerate surgery.
Surgery is curative of mitral valve regurgitation. There are two surgical options for the treatment of MI: mitral valve replacement and mitral valve repair. Mitral valve repair is preferred to mitral valve replacement where a repair is feasible as bioprosthetic replacement valves have a limited lifespan of 10 to 15 years, whereas synthetic replacement valves require ongoing use of blood thinners to reduce the risk of stroke. There are two general categories of approaches to mitral valve repair: Resection of the prolapsed valvular segment (sometimes referred to as the 'Carpentier' approach), and installation of artificial chordae to "anchor" the prolapsed segment to the papillary muscle (sometimes referred to as the 'David' approach). With the resection approach, any prolapsing tissue is resected, in effect removing the hole through which the blood is leaking. In the artificial chordae approach, ePTFE (expanded polytetrafluoroethylene, or Gore-Tex) sutures are used to replace the broken or stretched chordae tendonae, bringing the natural tissue back into the physiological position, thus restoring the natural anatomy of the valve. With both techniques, an annuloplasty ring is typically secured to the annulus, or opening of the mitral valve, to provide additional structural support. In some cases, the "double orifice" (or 'Alfieri') technique for mitral valve repair, the opening of the mitral valve is sewn closed in the middle, leaving the two ends still able to open. This ensures that the mitral valve closes when the left ventricle pumps blood, yet allows the mitral valve to open at the two ends to fill the left ventricle with blood before it pumps. In general, mitral valve surgery requires "open-heart" surgery in which the heart is arrested and the patient is placed on a heart-lung machine (cardiopulmonary bypass). This allows the complex surgery to proceed in a still environment.
Due to the physiological stress associated with open-heart surgery, elderly and very sick patients may be subject to increased risk, and may not be candidates for this type of surgery. As a consequence, there are attempts to identify means of correcting MI on a beating heart. The Alfieri technique for instance, has been replicated using a percutaneous catheter technique, which installs a "MitraClip" device to hold the middle of the mitral valve closed.