Adrenoleukodystrophy - Symptoms and Treatment - Research Paper Example

Adrenoleukodystrophy Research Paper Introduction Adrenoleukodystrophy (ALD) is a disorder that affects children, adolescents, and adults. It is generally inherited as an X-linked trait. Childhood cerebral ALD is a form of the disorder that is accompanied by symptoms such as visual impairment, seizures, loss of hearing, problems a school, difficulty with spoken communication, muscle spasms and rigidity, and so on (Ekvall & Ekvall, 2005). According to DSM-IV, ALD is an uncommon and lethal neurodegenerative disease that primarily affected males. It is characterized by primary adrenal deficit, accompanied by inflammatory demyelinating process (Campbell, 2009, 21). However, promptly managed and cared for, this disorder is somewhat bearable for the individual who has it. But there is no treatment for ALD, only alternative medications that could delay the progression of the disorder. This paper discusses and analyzes childhood cerebral ALD in a patient case study format. Case Presentation An 8 year old boy from Alabama, New York was admitted at the East Alabama Medical Center with issue of continuous darkening of the entire body for 4 years already, continuing deterioration of vision, abnormal behavior and hearing difficulty observed for the last 2 months. At the age of five he began going to school, but was forced to stop because of visual deficiency and low level of attention. Progressively he also began experiencing hearing difficulties. He had one incident of seizure 2 months ago. While confined in the hospital he also exhibited signs of mental illness and experienced vertigo. His previous medical history was average. He was not taking any medications before his hospitalization. There was also nothing unusual in his family background. Test results showed generalized hyper-pigmentation of skin, as well as pigmentation of tongue, gum, and oral mucosa. His blood pressure was stable, and has scattered loss of hair. He has testicular atrophy according to genital tests. Audiometry reports deterioration of sensory-neural hearing in both ears; ophthalmological and neurological tests show bilateral primary optic atrophy. All regular examinations showed normal results, but one test showed high protein, with no alteration in microbiological, glucose, and cell count results (Rosenkilde et al., 1995). The diagnosis of adrenoleukodystrophy was firmly substantiated by the radiological and biochemical results, and medical history. Afterwards, treatment was initiated with prednisolone and antipsychotic (Rosenkilde et al., 1995). He is currently monitored on a regular basis. Diagnostic Criteria The medical progression in adrenoleukodystrophy is typified by epileptic seizures, poorer hearing, decreased visual capacity, ataxia, behavioral problems, and then psychosis, mental decline, and death. Adrenal deficiency is a common diagnosis, but does not constantly go before neurologic disorder. Unusual skin coloration and other aspects of adrenal deficiency could become noticeable prior to neurological signs (Dons & Wians, 2009). In several instances adrenal signs will under no circumstances reveal itself. The most usual causes of primary adrenal deficiency are either tuberculosis or autoimmune adrenal breakdown; other etiologies like adrenoleukodystrophy are believed to be specifically rare (Campbell, 2009). Adrenoleukodystrophy must be taken into consideration when adrenal deficiency related to neuropsychiatric symptoms is present, similar to the patient under discussion. There are three forms of ALD: “non X-linked neonatal onset (severe); X-linked childhood onset (classic form associated with severe signs and symptoms); X-linked adult onset (less severe than classic form)” (Dons & Wians, 2009, 283). The major aspects are adrenal failure or the gradual impairment of the adrenal gland, weakening of peripheral nerves and myelin in brain. With regard to neonatal symptoms both male and female experience adrenal impairment, inflamed liver, fragile muscle tone, retinal deterioration, seizures, facial irregularities, and mental disorder. Usual symptoms of primary neurologic and adrenal impairment in childhood are deafness, problems swallowing, poor verbal communication, seizures, distortions in coordination and posture, hyperkalemia, spasmodic vomiting, and greater skin pigmentation (Trompier & Savary, 2013). The usual signs in childhood are behavioral changes such as aggression, worsening dementia, loss of visual capacity, poor academic performance and memory, learning difficulties, and fatigue (Dons & Wians, 2009). Some of these major childhood symptoms were observed in the patient. Etiology of Diagnosis The adrenoleukodystrophy protein (ALDP) assists the human body in breaking down very long chain fatty acids (VLCFA). When such process malfunctions or ceases, the fatty acids accumulate inside the body. This could damage the external cover of the cells in the testes, adrenal glands, brain, and spinal cord. Individuals with ALD have a dysfunctional gene that produces ALDP (Trompier & Savary, 2013). In other words, the patient’s body does not produce sufficient ALDP. Males normally develop ALD at an earlier age compared to females and generally experience more serious symptoms. Males are more prone to ALD because it is X-linked. This implies that the gene mutation that brings it about is on the X chromosome (Potic et al., 2010). Males have a single X chromosome, whereas females have two duplicates of it. That implies that females can have one healthy gene and one distorted duplicate of the gene. Females with a single duplicate of the mutation have more minor symptoms than males (Trompier & Savary, 2013). In several instances they do not experience any symptoms. Their healthy duplicate of the gene produces sufficient ALDP to assist in making their symptoms less noticeable. Majority of females with ALD have adrenomyelopathy. Childhood cerebral ALD and Addison’s disease are quite uncommon. X-linked adrenoleukodystrophy (X-ALD), such as that of the patient, is an incapacitating disorder brought about by distortions in the ABCD1 gene (Potic et al., 2010). Roughly 30 percent of affected young males have the continuous, neuroinflammatory phenotype, which is typified by axonal demyelination in the central nervous system, neuromotor problems and usually death (Ekvall & Ekvall, 2005, 28). Progress of Diagnosis Childhood X-linked ALD disorders usually develop in boys aged between four and ten. Parents begin to see that the child is experiencing difficulties with hearing and vision, poor academic performance, and behavioral changes. These difficulties can quickly worsen and the child will begin to experience problems in swallowing, talking, and walking (Lee et al., 2014). Death will usually take place in a few years after the diagnosis, although certain children survive for much longer. The patient perhaps has been healthy or normal for the initial years after birth. Between the ages four and adolescence, hyperactivity could arise with troublesome behavior, and learning and memory capabilities may be impaired. At times a mild infection can make him extremely weak and sick because of impairment in the adrenal glands (Furushima et al., 2009). Within a few months or years he will become more and more unstable, incompetent, and, ultimately, become completely dependent or needy. Vision will decline and seizures will occur. The illness is not painful and the patient will be oblivious of what is taking place in the later phases of the condition. The capacity of the brain to control the muscle used for swallowing, coughing, and chewing sooner or later become impaired thus possibly requiring the help of a feeding tube (Trompier & Savary, 2013). The patient will experience chestiness and could result in infections and progressive physical defect. In time the combination of physical defect and unhealthy brain becomes severe to preserve life. Parents and healthcare providers will be informed of the child’s growing progressive deterioration, and palliative care interventions can assist in easing pain in those suffering from the illness. The life expectancy, the level of disease progression, and the age of onset of symptoms can differ quite significantly between individuals but, unfortunately, even though several young males may live much longer, many are at risk of being in a state of insensitivity or unresponsiveness in a few months or years of the beginning of symptoms (Campbell, 2009). Individuals whose beginning of symptoms happens between the ages of three and ten have a tendency to experience a faster deterioration than individuals whose beginning is later (Ekvall & Ekvall, 2005). Prevalence It has been discovered that the prevalence of ALD is 1 in every 200,000 individuals (Trompier & Savary, 2013, 52). This illness has also been discovered in all racial groups and on all regions in the world. According to the Office of Rare Disease (ORD) of the National Institutes of Health (NIH), ALD is classified as a ‘rare disease’. This implies that ALD is diagnosed in not more than 200,000 individuals in the overall U.S. population (Trompier & Savary, 2013). The expression ‘prevalence’ of ALD generally indicates the projected number of individuals who are coping with ALD at any given time. The expression ‘incidence’ of ALD implies the yearly diagnosis frequency, or the rate of recurrence of new cases of ALD diagnoses every year (Dons & Wians, 2009). Thus, the figures for ‘prevalence’ and ‘incidence’ may vary. Treatment Modalities Even though a great deal is known about ALD, there is still no single effective treatment to counteract the debilitating progress of the illness. The adrenal deficiency can be managed by administering replacement hormones, but they do not create an impact on the core illness. Changes in diet repair the VLCFA levels and perhaps delay, but, unfortunately, not stop the development of symptoms if implemented prior or immediately after symptoms arise (Campbell, 2009). Every attempt is carried out to manage the symptoms as they develop, administering therapy or drugs to manage infections and seizures, ease muscles, and guarantee a good quality of life. Individualized instruction or education can offer a motivating setting and practice, which is essential for the patient and provides his family some time for themselves (Potic et al., 2010). In addition, a large number of children experience a certain level of symptomatic release from several complementary treatments like massage or cranial osteopathy in the later phases, even though these therapies are not yet scientifically verified (Furushima et al., 2009). In boys who are diagnosed with the illness but in whom problems have not yet emerged, trial treatment could be given through stem cell transplant. The outcomes of such are, up to now, inconclusive and the procedure itself is a quite risky one. If administered to boys who have severe demyelination, as revealed by the brain scan, it can speed up the rate of deterioration (Furushima et al., 2009). However, the fact is, ALD cannot be cured thus far. Still, stem cell transplantation could halt the progress of ALD if performed when neurological problems become noticeable. Physicians will concentrate on reducing the symptoms and delay the progression of the illness. Treatment alternatives may comprise stem cell transplant, adrenal insufficiency treatment, medications, physical therapy, and genetic counseling. Stem cell transplant could be an alternative to assist in the stopping or delaying of the progression of ALD in children if the illness is detected and managed early. Numerous individuals who suffer from ALD have adrenal deficiency and have to undergo systematic and continuous adrenal gland examination. Adrenal deficiency can be effectively managed through artificial steroids or corticosteroid replacement therapy (Rosenkilde, 1995). Physicians may recommend medications to assist in relieving symptoms, such as seizures and stiffness. Physical therapy could assist in easing the patient’s muscle contractions or twinges and lessen muscle stiffness. Physicians will give recommendations concerning mobility equipment, such as wheelchairs, if required (Ekvall & Ekvall, 2005). The patient’s treatment could take in genetic counseling for the patient and his family. Physicians trained in genetic disorders will give an explanation of the diagnosis and the impact of genes on the disorder. Physicians suggest that patients and their families obtain genetic examination and counseling (Dons & Wians, 2009). Assessment Childhood cerebral ALD (CCALD), which is observed in the patient, is the most quickly progressive and debilitating phenotypes of the disease. They most often become noticeable in childhood, but not prior to the age of 2 years. The emergence of CCALD is sneaky, with deficiencies in cognitive capabilities that include visuomotor and visuospatial performance or reasoning and attention (Trompier & Savary, 2013). As was the patient’s case, it primarily leads to poor academic performance. Such initial symptoms are usually wrongly diagnosed as attention deficit hyperactivity disorder and can interrupt the identification of CCALD. As the patient’s illness advances, more evident neurologic deficiencies become obvious, which involve seizures, reduced visual capacity, auditory deficit, hyperactive or inhibited behavior. Progression at this phase is very fast and debilitating (Trompier & Savary, 2013). The patient can eventually lose the capacity to walk and comprehend language within a couple of weeks. Sooner or later, he will be bedbound, immobile, blind, and incapable of responding or speaking, and necessitating feeding through gastrostomy or nasogastric tube and permanent nursing care. Normally death takes place a few years (2 to 4 years) after appearance of symptoms or, if thoroughly monitored and taken care of, the patient may stay in a vegetative condition for a number of years (Potic et al., 2010). The quick neurological deterioration of CCALD is brought about by a serious inflammatory demyelination progression mainly having an effect on the cerebral hemispheres. In the second phase, the illness begins to develop quickly, showing serious swelling and damage at the blood brain barrier. Such progression to the neuroinflammatory phase could take place quite early. Without the biomarkers to calculate the progression, brain MRI is still the only instrument to identify this progression in an initial phase (Lee et al., 2014). Roughly 10 percent of boys or teenagers with cerebral ALD may not have the fast progressing neuroinflammatory phase of the illness. This cerebral demyelinating type of X-ALD is generally called ‘chronic or arrested cerebral X-ALD’ (Campbell, 2009, 21). The process of cerebral demyelination stops suddenly and the patient can stay stable for a number of years (Ekvall & Ekvall, 2005). However, even after a decade of stability, unexpected appearance of fast neurologic decline could arise, showing a complete progression to the neuroinflammatory phase of the illness. Care Planning Interventions and Rationales There are several possible major problems with the patient’s symptoms. First is the possibility of an adrenal failure because of disruption of routine cortisol replacement absorption through diarrhea, vomiting, or refusing to eat; elevated cortisol requirements from physical strain of diagnostic process, surgery, or fever (Dons & Wians, 2009). Hence, the objective at this point is for the patient to sustain sufficient cortisol replacement. Possible nursing interventions are the following (Furushima et al., 2009): (1) Observe levels of blood glucose if needed; (2) Make sure cortisol replacement is administered through IV or other alternative route if the patient is suffering from diarrhea or vomiting; (3) Be informed that in moments of physical strain, such as infections, trauma, or fever, cortisol replacement must be more than the regular daily dosage; and (4) Make sure that cortisol replacement is administered promptly. Insufficient or untimely provision of cortisol replacement may speed up adrenal failure; hence, the patient on cortisol replacement must under no circumstances miss a dose. Second possible problem is the likelihood of distorted electrolyte and fluid balance because of low levels of aldosterone and cortisol (Dons & Wians, 2009). The objective here is to maintain the balance of the patient’s glucose and serum sodium levels. Nursing interventions that could be used to attain these objectives are the following (Rosenkilde et al., 1995): (1) Give extra salt if needed; and (2) Make sure aldosterone replacement is provided if prescribed Aldosterone replacement is needed by the patient to sustain sodium stability (Rosenkilde et al., 1995). Other possible problems are failure to cope, loss of control, and anxiety associated with previous experience, developmental phase, latest diagnosis, pain, disease, medical procedures, and hospital setting. Healthcare providers should listen to the worries, issues, and opinions of the patient’s parents as they have probably been already provided with information on the condition of their child (Lee et al., 2014). Parents could identify elusive changes in the health state and behavior of their child before such alterations are observed by healthcare providers. Timely and appropriate administration of stress medication will contribute to the avoidance or delaying of adrenal failure. Conclusion Adrenoleukodystrophy is an uncommon X-linked, genetic neurological disease that, in its harshest kind, brings about collapse of the myelin cover in the brain and continuous, progressive impairment of the adrenal glands. Such distortion, which is observed in the patient, can lead to adrenal dysfunction, seizures, weakening of cognitive performance, hearing and visual problems, and reduced motor capacity and coordination. Widely known as Lorenzo’s oil (Dons & Wians, 2009), ALD is approximated to exist in one among 20,000 individuals all over the world. In the childhood cerebral ALD, which the patient has, symptoms generally arise between 3 and 15 years of age. Those suffering from this type of ALD grow normally until the appearance of symptoms. Usually, symptoms develop fast and, within a few months or years, can result in a vegetative condition. There is still no single effective treatment to ALD, but there are alternative treatments that could be taken to delay the progression of the disorder. References Campbell, R. (2009). Campbell’s Psychiatric Dictionary. Oxford, UK: Oxford University Press. Dons, R. & Wians, F. Jr. (2009). Endocrine and Metabolic Disorders: Clinical Lab Testing Manual, Fourth Edition. Boca Raton, FL: CRC Press. Ekvall, S. & Ekvall, V. (2005). Pediatric Nutrition in Chronic Diseases and Developmental Disorders: Prevention, Assessment, and Treatment. Oxford, UK: Oxford University Press. Furushima, W. et al. (2009). Early Signs of Visual Perception and Evoked Potentials in Radiologically Asymptomatic Boys with X-Linked Adrenoleukodystrophy. Journal of Child Neurology, 24(8), 927-935. Lee, T. et al. (2014). The lived experience of Taiwanese mothers of a child diagnosed with adrenoleukodystrophy. Journal of Health Psychology, 19(2), 195-206. Potic, A. et al. (2010). Childhood Cerebral X-Linked Adrenoleukodystrophy More than 5 Years After Hematopoietic Cell Transplantation: The First Case from Serbia and Southeastern Europe. Journal of Child Neurology, 25(12), 1542-1547. Rosenkilde, M. et al. (1995). Adrenoleukodystrophy: A Case Report. Acta Radiologica, 36(4-6), 610-612. Trompier, D. & Savary, S. (2013). X-Linked Adrenoleukodystrophy. New York: Morgan & Claypool Publishers. Read More