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The treatments of kabuki syndrome are still being developed due to its genetic nature. The first step to treatment is diagnosis. After diagnosis, the treatment of medical conditions can often be treated by medical intervention. There are also options in psychotherapy for young children with this disorder, as well as the family of the child. Genetic counseling is available as a preventative treatment for kabuki syndrome because it can be inherited and expressed by only having one copy of the mutated gene.
Distal spinal muscular atrophy type 2 (DSMA2), also known as Jerash type distal hereditary motor neuropathy (HMN-J) — is a very rare childhood-onset genetic disorder characterised by progressive muscle wasting affecting lower and subsequently upper limbs. The disorder has been described in Arab inhabitants of Jerash region in Jordan as well as in a Chinese family.
The condition is linked to a genetic mutation in the "SIGMAR1" gene on chromosome 19 (locus 19p13.3) and is likely inherited in an autosomal recessive manner.
Treatment is surgical with attention to form and volume. Surgery usually takes place before the age of one since it has been reported that the intellectual outcome is better.
Though there is no treatment for Cone dystrophy, certain supplements may help in delaying the progression of the disease.
The beta-carotenoids, lutein and zeaxanthin, have been evidenced to reduce the risk of developing age related macular degeneration (AMD), and may therefore provide similar benefits to Cone dystrophy sufferers.
Consuming omega-3 fatty acids (docosahexaenoic acid and eicosapentaenoic acid) has been correlated with a reduced progression of early AMD, and in conjunction with low glycemic index foods, with reduced progression of advanced AMD, and may therefore delay the progression of cone dystrophy.
Distal hereditary motor neuronopathies (distal HMN, dHMN), sometimes also called distal hereditary motor neuropathies, are a genetically and clinically heterogeneous group of motor neuron diseases that result from genetic mutations in various genes and are characterized by degeneration and loss of motor neuron cells in the anterior horn of the spinal cord and subsequent muscle atrophy.
Although they can hardly be distinguished from hereditary motor and sensory neuropathies on the clinical level, dHMNs are considered a separate class of disorders.
The use of orthotic bracing, pioneered by Sydney Haje as of 1977, is finding increasing acceptance as an alternative to surgery in select cases of pectus carinatum. In children, teenagers, and young adults who have pectus carinatum and are motivated to avoid surgery, the use of a customized chest-wall brace that applies direct pressure on the protruding area of the chest produces excellent outcomes. Willingness to wear the brace as required is essential for the success of this treatment approach. The brace works in much the same way as orthodontics (braces that correct the alignment of teeth). The brace consists of front and back compression plates that are anchored to aluminum bars. These bars are bound together by a tightening mechanism which varies from brace to brace. This device is easily hidden under clothing and must be worn from 14 to 24 hours a day. The wearing time varies with each brace manufacturer and the managing physicians protocol, which could be based on the severity of the carinatum malformation (mild moderate severe) and if it is symmetric or asymmetric.
Depending on the manufacturer and/or the patient's preference, the brace may be worn on the skin or it may be worn over a body 'sock' or sleeve called a Bracemate, specifically designed to be worn under braces. A physician or orthotist or brace manufacturer's representative can show how to check to see if the brace is in correct position on the chest.
Bracing is becoming more popular over surgery for pectus carinatum, mostly because it eliminates the risks that accompany surgery. The prescribing of bracing as a treatment for pectus carinatum has 'trickled down' from both paediatric and thoracic surgeons to the family physician and pediatricians again due to its lower risks and well-documented very high success results. The pectus carinatum guideline of 2012 of the American Pediatric Surgical Association has stated: "As reconstructive therapy for the compliant pectus [carinatum] malformation, nonoperative compressive orthotic bracing is usually an appropriate first line of therapy as it does not preclude the operative option. For appropriate candidates, orthotic bracing of chest wall malformations can reasonably be expected to prevent worsening of the malformation and often results in a lasting correction of the malformation. Orthotic bracing is often successful in prepubertal children whose chest wall is compliant. Expert opinion suggests that the noncompliant chest wall malformation or significant asymmetry of the pectus carinatum malformation caused by a concomitant excavatum-type malformation may not respond to orthotic bracing."
Regular supervision during the bracing period is required for optimal results. Adjustments may be needed to the brace as the child grows and the pectus improves.
In 1993, A. E. Hardnig proposed to classify hereditary motor neuropathies into seven groups based on age at onset, mode of inheritance, and presence of additional features. This initial classification has since been widely adopted and expanded and currently looks as follows:
Note: Acronym "HMN" is also used interchangeably with "DHMN".
A form of surgery is the so-called fronto-supraorbital advancement and remodelling. Firstly, the supraorbital bar is remodelled by a wired greenstick fracture to straighten it. Secondly, the supraorbital bar is moved 2 cm. forward and fixed only to the frontal process of the zygoma without fixation to the cranium. Lastly, the frontal bone is divided into two, rotated and attached to the supraorbital bar causing a nude area (craniectomy) between the parietal bone and frontal bone. Bone will eventually regenerate since the dura mater lies underneath (the dura mater has osteogenic capabilities). This results in an advancement and straightening of the forehead.
For patients with severe pectus carinatum, surgery may be necessary. However bracing could and may still be the first line of treatment. Some severe cases treated with bracing may result in just enough improvement that patient is happy with the outcome and may not want surgery afterwards.
If bracing should fail for whatever reason then surgery would be the next step. The two most common procedures are the Ravitch technique and the Reverse Nuss procedure.
A modified Ravitch technique uses bioabsorbable material and postoperative bracing, and in some cases a diced rib cartilage graft technique.
The Nuss was developed by Donald Nuss at the Children's Hospital of the King's Daughters in Norfolk, Va. The Nuss is primarily used for Pectus Excavatum, but has recently been revised for use in some cases of PC, primarily when the malformation is symmetrical.
Penile fracture is a medical emergency, and emergency surgical repair is the usual treatment. Delay in seeking treatment increases the complication rate. Non-surgical approaches result in 10–50% complication rates including erectile dysfunction, permanent penile curvature, damage to the urethra and pain during sexual intercourse, while operatively treated patients experience an 11% complication rate.
In some cases, retrograde urethrogram may be performed to rule out concurrent urethral injury.
Kabuki syndrome (also previously known as kabuki makeup syndrome, KMS or Niikawa–Kuroki Syndrome), is a pediatric congenital disorder of suspected genetic origin with multiple congenital anomalies and intellectual disabilities. It is quite rare, affecting roughly one in 32,000 births. It was identified and described in 1981 by two Japanese groups, led by the scientists Norio Niikawa and Yoshikazu Kuroki. It is named kabuki syndrome because of the facial resemblance of affected individuals to stage makeup used in kabuki, a Japanese traditional theatrical form.
Pharmacological interventions are used to lower the sex drive in general, which can ease the management of pedophilic feelings, but does not change sexual preference. Antiandrogens work by interfering with the activity of testosterone. Cyproterone acetate (Androcur) and medroxyprogesterone acetate (Depo-Provera) are the most commonly used. The efficacy of antiantrogens has some support, but few high-quality studies exist. Cyproterone acetate has the strongest evidence for reducing sexual arousal, while findings on medroxyprogesterone acetate have been mixed.
Gonadotropin-releasing hormone analogues such as leuprolide acetate (Lupron), which last longer and have fewer side-effects, are also used to reduce libido, as are selective serotonin reuptake inhibitors. The evidence for these alternatives is more limited and mostly based on open trials and case studies. All of these treatments, commonly referred to as "chemical castration", are often used in conjunction with cognitive behavioral therapy. According to the Association for the Treatment of Sexual Abusers, when treating child molesters, "anti-androgen treatment should be coupled with appropriate monitoring and counseling within a comprehensive treatment plan." These drugs may have side-effects, such as weight gain, breast development, liver damage and osteoporosis.
Historically, surgical castration was used to lower sex drive by reducing testosterone. The emergence of pharmacological methods of adjusting testosterone has made it largely obsolete, because they are similarly effective and less invasive. It is still occasionally performed in Germany, the Czech Republic, Switzerland, and a few U.S. states. Non-randomized studies have reported that surgical castration reduces recidivism in contact sex offenders. The Association for the Treatment of Sexual Abusers opposes surgical castration and the Council of Europe works to bring the practice to an end in Eastern European countries where it is still applied through the courts.
Selective serotonin reuptake inhibitors (SSRIs) are used, especially with exhibitionists, non-offending pedophiles, and compulsive masturbators. They are proposed to work by reducing sexual arousal, compulsivity, and depressive symptoms. However, supporting evidence for SSRIs is limited.
Antiandrogens are used in more severe cases. Similar to physical castration, they work by reducing androgen levels, and have thus been described as chemical castration. The antiandrogen cyproterone acetate has been shown to substantially reduce sexual fantasies and offending behaviors. Medroxyprogesterone acetate and gonadotropin-releasing hormone agonists (such as leuprolide acetate) have also been used to lower sex drive. Due to the side effects, the World Federation of Societies of Biological Psychiatry recommends that hormonal treatments only be used when there is a serious risk of sexual violence, or when other methods have failed. Surgical castration has largely been abandoned because these pharmacological alternatives are similarly effective and less invasive.
Penile fracture is rupture of one or both of the "tunica albuginea", the fibrous coverings that envelop the penis's "corpora cavernosa". It is caused by rapid blunt force to an erect penis, usually during vaginal intercourse, or aggressive masturbation. It sometimes also involves partial or complete rupture of the urethra or injury to the dorsal nerves, veins and arteries.
Cognitive behavioral therapy (CBT) aims to reduce attitudes, beliefs, and behaviors that may increase the likelihood of sexual offenses against children. Its content varies widely between therapists, but a typical program might involve training in self-control, social competence and empathy, and use cognitive restructuring to change views on sex with children. The most common form of this therapy is relapse prevention, where the patient is taught to identify and respond to potentially risky situations based on principles used for treating addictions.
The evidence for cognitive behavioral therapy is mixed. A 2012 Cochrane Review of randomized trials found that CBT had no effect on risk of reoffending for contact sex offenders. Meta-analyses in 2002 and 2005, which included both randomized and non-randomized studies, concluded that CBT reduced recidivism. There is debate over whether non-randomized studies should be considered informative. More research is needed.
A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
Motor imagery has been explored as a potential therapy for constructional apraxia patients. Motor imagery is a process by which a specific action is mimicked in the working memory without a corresponding motor output. Since constructional apraxia is a visuospatial problem not a motor problem, rehabilitation-treatment based on motor imagery has not proven to be an effective in patients with right hemisphere stroke or hemispatial neglect.
Psychopathy has often been considered untreatable. Its unique characteristics makes it among the most of personality disorders, a class of mental illnesses that are already traditionally considered difficult to treat. People afflicted with psychopathy are generally unmotivated to seek treatment for their condition, and can be uncooperative in therapy. Attempts to treat psychopathy with the current tools available to psychiatry have been disappointing. Harris and Rice's "Handbook of Psychopathy" says that there is currently little evidence for a cure or effective treatment for psychopathy; as of yet, no pharmacological therapies are known to or have been trialed for alleviating the emotional, interpersonal and moral deficits of psychopathy, and patients with psychopathy who undergo psychotherapy might gain the skills to become more adept at the manipulation and deception of others and be more likely to commit crime. Some studies suggest that punishment and behavior modification techniques are ineffective at modifying the behavior of psychopathic individuals as they are insensitive to punishment or threat. These failures have led to a widely pessimistic view on its treatment prospects, a view that is exacerbated by the little research being done into this disorder compared to the efforts committed to other mental illnesses, which makes it more difficult to gain the understanding of this condition that is necessary to develop effective therapies.
Although the core character deficits of highly psychopathic individuals are likely to be highly incorrigible to the currently available treatment methods, the antisocial and criminal behavior associated with it may be more amenable to management, the management of which being the main aim of therapy programs in correctional settings. It has been suggested that the treatments that may be most likely to be effective at reducing overt antisocial and criminal behavior are those that focus on self-interest, emphasizing the tangible, material value of prosocial behavior, with interventions that develop skills to obtain what the patient wants out of life in prosocial rather than antisocial ways. To this end, various therapies have been tried with the aim of reducing the criminal activity of incarcerated offenders with psychopathy, with mixed success. As psychopathic individuals are insensitive to sanction, reward-based management, in which small privileges are granted in exchange for good behavior, has been suggested and used to manage their behavior in institutional settings.
Psychiatric medications may also alleviate co-occurring conditions sometimes associated with the disorder or with symptoms such as aggression or impulsivity, including antipsychotic, antidepressant or mood-stabilizing medications, although none have yet been approved by the FDA for this purpose. For example, a study found that the antipsychotic clozapine may be effective in reducing various behavioral dysfunctions in a sample of high-security hospital inpatients with antisocial personality disorder and psychopathic traits. However, research into the pharmacological treatment of psychopathy and the related condition antisocial personality disorder is minimal, with much of the knowledge in this area being extrapolations based on what is known about pharmacology in other mental disorders.
A neutral spine or good posture refers to the "three natural curves [that] are present in a healthy spine." Looking directly at the front or back of the body, the 33 vertebrae in the spinal column should appear completely vertical. From a side view, the cervical (neck) region of the spine (C1-C7) is bent inward, the thoracic (upper back) region (T1-T12) bends outward, and the lumbar (lower back) region (L1-L5) bends inward. The sacrum (tailbone area) (S1-S5 fused) and coccyx (on average 4 fused) rest between the pelvic bones. A neutral pelvis indicates the anterior superior iliac spines and pubic symphysis fall in the same vertical line.
Scoliosis is well established and even evaluated at an early age. It is typically quantified using the standardized Cobb angle method. This method consists of measuring the degree of deformity by the angle between two successive vertebrae. The Cobb method was accepted by the Scoliosis Research Society (SRS) in 1966. It serves as the standard method for quantification of scoliosis deformities. Sagittal plane posture aberrations such as cervical and lumbar lordosis and thoracic kyphosis have yet to be quantified due to considerable inter-individual variability in normal sagittal curvature. The Cobb method was also one of the first techniques used to quantify sagittal deformity. As a 2D measurement technique it has limitations and new techniques are being proposed for measurement of these curvatures. Most recently, 3D imaging techniques using computed tomography (CT) and magnetic resonance (MR) have been attempted. These techniques are promising but lack the reliability and validity necessary to be used as a reference for clinical purposes.
Posture assessment has also become quite popular in many practical environments like the personal training and sports conditioning settings. The need for reliable methods of posture assessment as a screening tool is warranted. Current available programs such as those through the National Posture Institute (NPI) and Posture Print are recommended for the practical setting but cost close to $1000 and are clearly a profiteering scam by individuals not at all concerned with human well-being.
Chronic deviations from neutral spine lead to improper posture, increased stress on the back and causes discomfort and damage. People who sit for long hours on the job are susceptible to a number of misalignments.
"Neutral spine" is ideally maintained while sitting, standing, and sleeping.
Stereoblindness (also stereo blindness) is the inability to see in 3D using stereopsis, or stereo vision, resulting in an inability to perceive stereoscopic depth by combining and comparing images from the two eyes.
Individuals with only one functioning eye always have this condition; the condition also results when two eyes do not function together properly.
Stereoblind persons with two healthy eyes do employ binocular vision to some extent, albeit less than persons with normally developed eyesight. This was shown in a study in which stereoblind subjects were posed with the task of judging the direction of rotation of a simulated transparent cylinder: the subjects performed better when using two eyes than when using their preferred eye. They appeared to judge the direction of rotation from the images in each eye separately and then to combine these judgments, rather than relying on differences between the images in the two eyes. Also, purely binocular motion stimuli appear to influence stereoblind persons' sensation of self-motion. Furthermore, in some cases each eye can contribute to peripheral vision for one side of the field of view (see also monofixation syndrome).
Alcohol consumption by youth in the United States of America is an umbrella term for alcohol consumption by individuals under the age of 21 in the country.
Although the minimum legal age to purchase alcohol is 21 in all states (see National Minimum Drinking Age Act), the legal details vary greatly. While a few states completely ban alcohol usage for people under 21, the majority have exceptions that permit consumption.
Underage drinking has become an activity primarily done behind closed doors. Typically, underage drinkers hide their alcohol consumption by drinking quickly before they go out, which is often referred to as pregaming or pre-partying. Brittany Levine explained in her article "Pre-Gaming" in USA Today that "of all drinking events involving pre-partying, 80% involved additional drinking afterward." Those who oppose a complete ban on underage drinking argue that it is important that minors be introduced to alcohol in a controlled environment, so that supervision and guidance might occur instead of experimentation. Some parents are willing to provide alcohol for their children if they drink it in a controlled environment. Furnishing alcohol to one's own children is permitted in 31 states, while it's illegal to do so for other people's children in all fifty states. Social host ordinances have been enacted in a number of jurisdictions to attempt to limit the parties where adults may permit minors to drink. Social host laws or ordinances have proliferated in the last ten years because it has been too difficult for law enforcement to prove which adults furnished or served alcohol to minors in their own home, so it permits them to cite or arrest the adult who has control of the premises.
Constructional apraxia is characterized by an inability or difficulty to build, assemble, or draw objects. Apraxia is a neurological disorder in which people are unable to perform tasks or movements even though they understand the task, are willing to complete it, and have the physical ability to perform the movements. Constructional apraxia may be caused by lesions in the parietal lobe following stroke or it may serve as an indicator for Alzheimer's disease.
Nichols (2006) compiled some common clinical issues: countertransference, non-disclosure, coming-out, partner/families, and bleed-through.
Countertransference is a common problem in clinical settings. Despite having no evidence, therapists may find themselves believing that their client’s pathology is "self-evident". Therapists may feel intense disgust and aversive reactions. Feelings of countertransference can interfere with therapy. Another common problem is when clients conceal their sexual preferences from their therapists. This can compromise any therapy. To avoid non-disclosure, therapists are encouraged to communicate their openness in indirect ways with literatures and artworks in the waiting room. Therapists can also deliberately bring up BDSM topics during the course of therapy. With less informed therapists, sometimes they over-focus on clients’ sexuality which detracts from original issues such as family relationships, depression, etc. A special subgroup that needs counselling is the "newbie". Individuals just coming out might have internalized shame, fear, and self-hatred about their sexual preferences. Therapists need to provide acceptance, care, and model positive attitude; providing reassurance, psychoeducation, and bibliotherapy for these clients is crucial. The average age when BDSM individuals realize their sexual preference is around 26 years. Many people hide their sexuality until they can no longer contain their desires. However, they may have married or had children by this point. Therefore, therapists need to facilitate couple's counselling and disclosure. It is important for therapists to consider fairness to partner and family of clients. In situations when boundaries between roles in the bedroom and roles in the rest of the relationship blurs, a "bleed-through" problem has occurred. Therapists need to help clients resolve distress and deal with any underlying problems that led to the initial bleed-through.