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There is no known cure for Ehlers–Danlos syndrome. Treatment is palliative. Close monitoring of the cardiovascular system, physiotherapy, occupational therapy, and orthopedic instruments (e.g., wheelchairs, bracing, casting) may be helpful. This can help with stabilizing the joints and prevent injury. Orthopedic instruments are helpful for the prevention of further joint damage, especially for long distances, although it is advised that individuals not become entirely dependent on them until there are no other options for mobility. One should avoid activities that cause the joint to lock or overextend.
A physician may prescribe casting to stabilize joints. Physicians may refer a patient to an orthotist for orthotic treatment (bracing). Physicians may also consult a physical and/or occupational therapist to help strengthen muscles and to teach people how to properly use and preserve their joints.
There are different types of physiotherapy. Aquatic therapy promotes muscular development and coordination. With manual therapy, the joint will be gently mobilized within the range of motion and/or manipulations.
If conservative therapy is not helpful, surgical repair of joints may be necessary. Medication to decrease pain or manage cardiac, digestive, or other related conditions may be prescribed. To decrease bruising and improve wound healing, some patients have responded to ascorbic acid (vitamin C). Special precautions are often taken by medical care workers because of the sheer amount of complications that tend to arise in EDS patients. In Vascular EDS, signs of chest or abdominal pain are to be considered trauma situations.
In general, medical intervention is limited to symptomatic therapy. Before pregnancy, patients with EDS should have genetic counseling and familiarize themselves with the risks to their own bodies that pregnancy poses. Children with EDS should be provided with information about the disorder so they can understand why contact sports and other physically stressful activities should be avoided. Children should be taught early on that demonstrating the unusual positions they can maintain due to loose joints should not be done as this may cause early degeneration of the joints. Patients may find it hard to cope with the drawbacks of the disease. In this case, emotional support and behavioral and psychological therapy can be useful. Support groups can be immensely helpful for patients dealing with major lifestyle changes and poor health. Family members, teachers, and friends should be informed about EDS so they can accept and assist the child.
The instability of joints, leading to (sub)luxations and joint pain, often require surgical intervention in patients with Ehlers–Danlos syndrome. Instability of almost all joints can happen but appear most often in the lower and upper extremities, with the wrist, fingers, shoulder, knee, hip, and ankle being most common.
Common surgical procedures are joint debridement, tendon replacements, capsulorraphy, and arthroplasty. Studies have shown that after surgery, degree of stabilization, pain reduction, and patient satisfaction can improve, but surgery does not guarantee an optimal result: Patients and surgeons report being dissatisfied with the results. Consensus is that conservative treatment is more effective than surgery, particularly since patients have extra risks of surgical complications due to the disease. Three basic surgical problems arise due to EDS: the strength of the tissues is decreased, which makes the tissue less suitable for surgery; the fragility of the blood vessels can cause problems during surgery; and wound healing is often delayed or incomplete. If considering surgical intervention, it would be prudent to seek care from a surgeon with extensive knowledge and experience in treating patients with EDS and joint hypermobility issues.
Studies have shown that local anesthetics, arterial catheters and central venous catheters cause a higher risk in haematoma formation in patients with Ehlers–Danlos syndrome. Ehlers–Danlos syndrome patients also show a resistance to local anaesthetics. Resistance to Xylocaine and Bupivacaine is not uncommon, and Carbocaine tends to work better in EDS patents. Special recommendations for anesthesia in EDS patients are prepared by orphananesthesia and deal with all aspects of anesthesia for people with EDS. Detailed recommendations for anesthesia and perioperative care of patients with EDS should be used to improve patient safety.
Surgery with Ehlers–Danlos patients requires careful tissue handling and a longer immobilization afterward.
The key for managing Sack–Barabas syndrome is for the patient to be aware of their disease. Close follow up and planning of interventions can significantly prolong and maintain the quality of life of a patient with this disease.
Pregnant affected women must take special care due to the increased risk of premature death due to rupture of arteries, bowel or uterine rupture with a reported mortality rate of 50%.
Genetic counselling is recommended for prospective parents with a family history of Ehlers–Danlos syndrome. Affected parents should be aware of the type of Ehlers-Danlos syndrome they have and its mode of inheritance.
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.
Successful management of seizures plays a key role in improving quality of life. Antiepileptic medications are the main therapies for seizures; however, it appears that seizures in this syndrome do not respond well to drugs. In the cases reported in literature, numerous new and old antiepileptic drugs have been tried, but no one drug appears to be more efficacious than others. Therefore, no recommendations can be made regarding the selection of the most appropriate antiepileptic drug. As not all cases of ring chromosome 20 syndrome are the same, different individuals may respond to treatment in different ways.Alternates to antiepileptic drug treatment include the ketogenic diet and vagus nerve stimulation but not epilepsy surgery.
The ketogenic diet is a high fat, low carbohydrate diet reserved for intractable childhood epilepsies. There are no published reports on the use of the ketogenic diet in patients with ring chromosome 20 syndrome. However, its efficacy and safety are well established in other difficult to control epilepsy syndromes.
Common pharmacological treatments include:
- Mast cell stabilizers, including cromolyn sodium and natural stabilizers such as quercetin
- H1-antihistamines, such as cetirizine or ketotifen
- H2-antihistamines, such as ranitidine or famotidine
- Antileukotrienes, such as montelukast or zileuton as well as natural products (e.g., curcumin or St. John's wort extracts)
- Nonsteroidal anti-inflammatory drugs, including aspirin can be very helpful in reducing inflammation in some patients, while others can have dangerous reactions
Fillers, binders and dyes in many medications are often the culprit in causing reactions, not necessarily the active agent, so alternative formulations and compounding pharmacies should be considered.
Lifestyle changes may also be needed. Avoidance of triggers is important. It should be emphasized that MCAS patients can potentially react to any new exposure, including food, drink, medication, microbes and smoke via inhalation, ingestion or touch.
A low histamine diet and other elimination diets can be useful in identifying foods that trigger or worsen symptoms. Many MCAS patients already have high histamine levels, so ingesting foods with high histamine or histamine liberators can worsen many symptoms such as vasodilation that causes faintness and palpitations.
No cures for lysosomal storage diseases are known, and treatment is mostly symptomatic, although bone marrow transplantation and enzyme replacement therapy (ERT) have been tried with some success. ERT can minimize symptoms and prevent permanent damage to the body. In addition, umbilical cord blood transplantation is being performed at specialized centers for a number of these diseases. In addition, substrate reduction therapy, a method used to decrease the production of storage material, is currently being evaluated for some of these diseases. Furthermore, chaperone therapy, a technique used to stabilize the defective enzymes produced by patients, is being examined for certain of these disorders. The experimental technique of gene therapy may offer cures in the future.
Ambroxol has recently been shown to increase activity of the lysosomal enzyme glucocerebrosidase, so it may be a useful therapeutic agent for both Gaucher disease and Parkinson's disease. Ambroxol triggers the secretion of lysosomes from cells by inducing a pH-dependent calcium release from acidic calcium stores. Hence, relieving the cell from accumulating degradation products is a proposed mechanism by which this drug may help.
Many of the congenital malformations found with Malpuech syndrome can be corrected surgically. These include cleft lip and palate, omphalocele, urogenital and craniofacial abnormalities, skeletal deformities such as a caudal appendage or scoliosis, and hernias of the umbillicus. The primary area of concern for these procedures applied to a neonate with congenital disorders including Malpuech syndrome regards the logistics of anesthesia. Methods like tracheal intubation for management of the airway during general anesthesia can be hampered by the even smaller, or maldeveloped mouth of the infant. For regional anesthesia, methods like spinal blocking are more difficult where scoliosis is present. In a 2010 report by Kiernan et al., a four-year-old girl with Malpuech syndrome was being prepared for an unrelated tonsillectomy and adenoidectomy. While undergoing intubation, insertion of a laryngoscope, needed to identify the airway for the placement of the endotracheal tube, was made troublesome by the presence of micrognathia attributed to the syndrome. After replacement with a laryngoscope of adjusted size, intubation proceeded normally. Successful general anesthesia followed.
A rare follow-up of a male with Malpuech syndrome was presented by Priolo et al. (2007). Born at term from an uneventful pregnancy and delivery, the infant underwent a surgical repair of a cleft lip and palate. No problems were reported with the procedure. A heart abnormality, atrial septal defect, was also apparent but required no intervention. At age three years, mental retardation, hyperactivity and obsessive compulsive disorder were diagnosed; hearing impairment was diagnosed at age six, managed with the use of hearing aids. Over the course of the decade that followed, a number of psychiatric evaluations were performed. At age 14, he exhibited a fear of physical contact; at age 15, he experienced a severe psychotic episode, characterized by agitation and a loss of sociosexual inhibition. This array of symptoms were treated pharmocologically (with prescription medications). He maintained a low level of mental deficiency by age 17, with moments of compulsive echolalia.
There is no cure for MCAS. For most, symptoms wax and wane, but many can experience a general worsening trend over time. Lifespan for those with MCAS appears to be normal, but quality of life can range from mild discomfort to severely impaired. Some patients are impaired enough to be disabled and unable to work.
Treatment for EDS usually involves treating the underlying causative factor(s). This may involve psychotherapy, substance abuse treatment, or medical treatment for diseases.
EDS has been successfully controlled in clinical trials using prescribed medications, including Carbamazepine, Ethosuximide, and Propranolol.
Medication is not the primary treatment for hypermobility, but can be used as an adjuct treatment for related joint pain. NSAIDS are the primary medications of choice. Narcotics are not recommended for primary or long term treatment and are reserved for short term use after acute injury.
There is no cure for spinocerebellar ataxia, which is currently considered to be a progressive and irreversible disease, although not all types cause equally severe disability.
In general, treatments are directed towards alleviating symptoms, not the disease itself. Many patients with hereditary or idiopathic forms of ataxia have other symptoms in addition to ataxia. Medications or other therapies might be appropriate for some of these symptoms, which could include tremor, stiffness, depression, spasticity, and sleep disorders, among others. Both onset of initial symptoms and duration of disease are variable. If the disease is caused by a polyglutamine trinucleotide repeat CAG expansion, a longer expansion may lead to an earlier onset and a more radical progression of clinical symptoms. Typically, a person afflicted with this disease will eventually be unable to perform daily tasks (ADLs). However, rehabilitation therapists can help patients to maximize their ability of self-care and delay deterioration to certain extent. Researchers are exploring multiple avenues for a cure including RNAi and the use of Stem Cells and several other avenues.
On January 18, 2017 BioBlast Pharma announced completion of Phase 2a clinical trials of their medication, Trehalose, in the treatment of SCA3. BioBlast has received FDA Fast Track status and Orphan Drug status for their treatment. The information provided by BioBlast in their research indicates that they hope this treatment may prove efficacious in other SCA treatments that have similar pathology related to PolyA and PolyQ diseases.
In addition, Dr. Beverly Davidson has been working on a methodology using RNAi technology to find a potential cure for over 2 decades. Her research began in the mid-1990s and progressed to work with mouse models about a decade later and most recently has moved to a study with non-human primates. The results from her most recent research "are supportive of clinical application of this gene therapy". Dr. Davidson along with Dr. Pedro Gonzalez-Alegre are currently working to move this technique into a Phase 1 clinical trial.
Finally, another gene transfer technology discovered in 2011 has also been shown by Dr. Davidson to hold great promise and offers yet another avenue to a potential future cure.
For some people with hypermobility, lifestyle changes decrease symptom severity. In general activity that increases pain is to be avoided. For example:
- Typing can reduce pain from writing.
- Voice control software or a more ergonomic keyboard can reduce pain from typing.
- Bent knees or sitting can reduce pain from standing.
- Unwanted symptoms are frequently produced by some forms of yoga and weightlifting.
- Use of low impact elliptical training machines can replace high-impact running.
- Pain-free swimming may require a kickboard or extra care to avoid hyperextending elbow and other joints.
- Weakened ligaments and muscles contribute to poor posture, which may contribute to other medical conditions.
- Isometric exercise avoids hyperextension and contributes to strength.
The tests to verify Sack–Barabas syndrome are biochemical samples such as collagen typing (performed on a skin biopsy sample) or collagen gene mutation testing. There is no cure for Ehlers-Danlos syndrome, so individual problems and symptoms must be evaluated and cared for accordingly.
Physical therapists can assist patients in maintaining their level of independence through therapeutic exercise programmes. One recent research report demonstrated a gain of 2 SARA points (Scale for the Assessment and Rating of Ataxia) from physical therapy. In general, physical therapy emphasises postural balance and gait training for ataxia patients. General conditioning such as range-of-motion exercises and muscle strengthening would also be included in therapeutic exercise programmes. Research showed that spinocerebellar ataxia 2 (SCA2) patients with a mild stage of the disease gained significant improvement in static balance and neurological indices after six months of a physical therapy exercise training program. Occupational therapists may assist patients with incoordination or ataxia issues through the use of adaptive devices. Such devices may include a cane, crutches, walker, or wheelchair for those with impaired gait. Other devices are available to assist with writing, feeding, and self care if hand and arm coordination are impaired. A randomised clinical trial revealed that an intensive rehabilitation program with physical and occupational therapies for patients with degenerative cerebellar diseases can significantly improve functional gains in ataxia, gait, and activities of daily living. Some level of improvement was shown to be maintained 24 weeks post-treatment. Speech language pathologists may use both behavioral intervention strategies as well as augmentative and alternative communication devices to help patients with impaired speech.
Dietary modifications may be of benefit to a small proportion of children with ADHD. A 2013 meta-analysis found less than a third of children with ADHD see some improvement in symptoms with free fatty acid supplementation or decreased eating of artificial food coloring. These benefits may be limited to children with food sensitivities or those who are simultaneously being treated with ADHD medications. This review also found that evidence does not support removing other foods from the diet to treat ADHD. A 2014 review found that an elimination diet results in a small overall benefit. A 2016 review stated that the use of a gluten-free diet as standard ADHD treatment is discouraged. Iron, magnesium and iodine may also have an effect on ADHD symptoms. There is a small amount of evidence that lower tissue zinc levels may be associated with ADHD. In the absence of a demonstrated zinc deficiency (which is rare outside of developing countries), zinc supplementation is not recommended as treatment for ADHD. However, zinc supplementation may reduce the minimum effective dose of amphetamine when it is used with amphetamine for the treatment of ADHD. There is evidence of a modest benefit of omega 3 fatty acid supplementation, but it is not recommended in place of traditional medication.
A diagnosis of EDS has been used as a defense in court for persons accused of committing violent crimes including murder.
In the 1980s and 1990s, several trials of melatonin administration to totally blind individuals without light perception produced improvement in sleep patterns, but it was unclear at that time if the benefits were due to entrainment from light cues. Then, using endogenous melatonin as a marker for circadian rhythms, several research groups showed that appropriately timed melatonin administration could entrain free-running rhythms in the totally blind. For example, Sack et al. found that 6 out of 7 patients treated with 10 mg melatonin at bedtime were normally entrained. When the dose was gradually reduced to 0.5 mg in three of the subjects, entrainment persisted. Subsequently, it was shown that treatment initiated with the 0.5 mg dose produced entrainment. One subject who failed to entrain at a higher dose was successfully entrained at a lower dose. A low dose produces melatonin blood levels that are similar to the concentrations naturally produced by nightly pineal secretion.
Products containing melatonin are available as dietary supplements in the United States and Canada, available over the counter. These "supplements" do not require FDA approval. As prescription drugs may be prescribed off-label, treatment recommendations for non-24 in the blind may vary.
There has been a constant growth in the field of melatonin and melatonin receptor agonists since the 1980s. In 2005 Ramelteon (Rozerem) was the first melatonin agonist to be approved in the United States (US), indicated for insomnia treatment in adults. Melatonin in the form of prolonged release (trade name Circadin) was approved in 2007 in Europe (EU) for use as a short-term treatment, in patients 55 years and older, for primary insomnia. Tasimelteon (trade name Hetlioz) received FDA-approval in January 2014 for persons diagnosed with non-24. TIK-301 (Tikvah Therapeutics, Atlanta, USA) has been in phase II clinical trial in the United States since 2002 and the FDA granted it orphan drug designation in May 2004, for use as a treatment for circadian rhythm sleep disorder in blind individuals without light perception as well as individuals with tardive dyskinesia.
Different therapies are offered to children with motor skills disorders to help them improve their motor effectiveness. Many children work with an occupational and physical therapist, as well as educational professionals. This helpful combination is beneficial to the child. Cognitive therapy, sensory integration therapy, and kinesthetic training are often favorable treatment for the child.
Stimulant medications are the pharmaceutical treatment of choice. They have at least some effect on symptoms in the short term in about 80% of people. Methylphenidate appears to improve symptoms as reported by teachers and parents. Stimulants may also reduce the risk of unintentional injuries in children with ADHD.
There are a number of non-stimulant medications, such as atomoxetine, bupropion, guanfacine, and clonidine that may be used as alternatives, or added to stimulant therapy. There are no good studies comparing the various medications; however, they appear more or less equal with respect to side effects. Stimulants appear to improve academic performance while atomoxetine does not. Atomoxetine, due to its lack of addiction liability, may be preferred in those who are at risk of recreational or compulsive stimulant use. There is little evidence on the effects of medication on social behaviors. , the long-term effects of ADHD medication have yet to be fully determined. Magnetic resonance imaging studies suggest that long-term treatment with amphetamine or methylphenidate decreases abnormalities in brain structure and function found in subjects with ADHD.
Guidelines on when to use medications vary by country, with the United Kingdom's National Institute for Health and Care Excellence recommending use for children only in severe cases, though for adults medication is a first-line treatment, while most United States guidelines recommend medications in most age groups. Medications are not recommended for preschool children. Underdosing of stimulants may occur and result in a lack of response or later loss of effectiveness. This is particularly common in adolescents and adults as approved dosing is based on school-aged children, causing some practitioners to use weight based or benefit based off-label dosing instead.
While stimulants and atomoxetine are usually safe, there are side-effects and contraindications to their use. A large overdose on ADHD stimulants is commonly associated with symptoms such as stimulant psychosis and mania; although very rare, at therapeutic doses these events appear to occur in approximately 0.1% of individuals within the first several weeks after starting amphetamine or methylphenidate therapy. Administration of an antipsychotic medication has been found to effectively resolve the symptoms of acute amphetamine psychosis. Regular monitoring has been recommended in those on long-term treatment. Stimulant therapy should be stopped periodically to assess continuing need for medication, decrease possible growth delay, and reduce tolerance. Long-term misuse of stimulant medications at doses above the therapeutic range for ADHD treatment is associated with addiction and dependence. Untreated ADHD, however, is also associated with elevated risk of substance use disorders and conduct disorders. The use of stimulants appears to either reduce this risk or have no effect on it. The safety of these medications in pregnancy is unclear.
Separation anxiety disorder
- Cognitive behavioral therapy is often used to treat separation anxiety disorder. Family therapy may also be helpful to get to the core of the issue. Systemic desensitization techniques are usually used to help the child get used to being comfortable away from home.
Selective mutism
- It is important not to "enable" the child with selective mutism by allowing them to remain silent in the social settings that they are uncomfortable in. Both parents and teachers need to be involved in the treatment of selective mutism. The most important factor to remember is that the child does not have a speech disorder; it is an anxiety disorder.
Reactive attachment disorder of infancy or early childhood
- Treatment almost always involves the child and his or her parents or caregivers. Parents may need to take parenting skills classes and attend family therapy with the child. Individual therapy with the child and therapist is effective. Another technique is keeping close physical contact between the child and his or her parents.
Stereotypic movement disorder
- Behavioral techniques and psychotherapy are the most effective treatment for children with this disorder. It is important to change the child's environment so that they are unable to harm themselves. Medication is also effective.
It is possible for this disorder to progress over time. A patient suffering from the disorder can improve the condition with treatments. There are several types of therapies that may improve the condition, but depending on a patient’s experience of the disorder or the cause of the disorder, treatments will vary.
- Psychotherapy including behaviour therapy, Gestalt therapy, Adlerian therapy, psychoanalytic therapy and existential therapy.
- Pharmacotherapy through medications including antidepressants.
The recommended treatment for adjustment disorder is psychotherapy. The goal of psychotherapy is symptom relief and behavior change. Anxiety may be presented as "a signal from the body" that something in the patient's life needs to change. Treatment allows the patient to put his or her distress or rage into words rather than into destructive actions. Individual therapy can help a person gain the support they need, identify abnormal responses and maximize the use of the individual's strengths. Counseling, psychotherapy, crisis intervention, family therapy, behavioral therapy and self-help group treatment are often used to encourage the verbalization of fears, anxiety, rage, helplessness, and hopelessness. Sometimes small doses of antidepressants and anxiolytics are used in addition to other forms of treatment. In patients with severe life stresses and a significant anxious component, benzodiazepines are used, although non-addictive alternatives have been recommended for patients with current or past heavy alcohol use, because of the greater risk of dependence. Tianeptine, alprazolam, and mianserin were found to be equally effective in patients with AD with anxiety. Additionally, antidepressants, antipsychotics (rarely) and stimulants (for individuals who became extremely withdrawn) have been used in treatment plans.
There has been little systematic research regarding the best way to manage individuals with an adjustment disorder. Because natural recovery is the norm, it has been argued that there is no need to intervene unless levels of risk or distress are high. However, for some individuals treatment may be beneficial. AD sufferers with depressive and/or anxiety symptoms may benefit from treatments usually used for depressive and/or anxiety disorders. One study found that AD sufferers received similar interventions to those with other psychiatric diagnoses, including psychological therapy and medication. Another study found that AD responded better than major depression to antidepressants. Given the absence of a meaningful evidence base for the treatment of AD "per se", watchful waiting should be considered initially; if symptoms are not improving or causing the sufferer marked distress then treatment should be directed at the predominating symptoms.
In addition to professional help, parents and caregivers can help their children with their difficulty adjusting by:
- offering encouragement to talk about his/her emotions
- offering support and understanding
- reassuring the child that their reactions are normal
- involving the child's teachers to check on their progress in school
- letting the child make simple decisions at home, such as what to eat for dinner or what show to watch on TV
- having the child engage in a hobby or activity they enjoy
Enforcing a 24-hour sleep–wake schedule using alarm clocks or family interventions is often tried but usually unsuccessful. Bright light exposure on awakening to counteract the tendency for circadian rhythms to delay, similar to the treatment for delayed sleep phase disorder, and seasonal affective disorder (SAD) has been found to be effective in some cases, as has melatonin administration in the subjective late afternoon or evening. Light therapy involves at least 20 minutes of exposure to 3000 to 10000 lux light intensity. Going outside on a bright sunny day can accomplish the same benefit as special light fixtures (light boxes). Bright light therapy combined with the use of melatonin as a chronobiotic and avoidance of light before bedtime may be the most effective treatment. Melatonin administration shifts circadian rhythms according to a phase response curve (PRC) that is essentially the inverse of the light PRC. When taken in the late afternoon or evening, it resets the clock earlier; when taken in the morning, it shifts the clock later. Therefore, successful entrainment depends on the appropriate timing of melatonin administration. The accuracy needed for successfully timing the administration of melatonin requires a period of trial and error, as does the dosage. In addition to natural fluctuations within the circadian rhythm, seasonal changes including temperature, hours of daylight, light intensity and diet are likely to affect the efficacy of melatonin and light therapies since these exogenous zeitgebers would compete for hormonal homoeostasis. Further to this there are unforeseen disruptions to contend with even when a stabilised cycle is achieved; such as travel, exercise, stress, alcohol or even the use of light emitting technology close to a subjective evening/night.
Hypnotics and/or stimulants (to promote sleep and wakefulness, respectively) have sometimes been used. Typically a sleep diary is requested to aid in evaluation of treatment, though the emergence of modern actigraphy devices can also assist in the logging of sleep data. Additionally, graphs can now be generated using mobile phone applications, utilising internal accelerometers which are present in most smartphones in use today. The graphs and basic sleep diary records can be shared with a physician. However, due to the lack of clinical accuracy they should not be used for diagnosis, but instead to monitor the cycle and general progress of any medications in use.