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If you want to protect your data storage devices against data loss and corruption, you need to know what is bit rot.

We use hard drives (HDDs) and solid-state drives (SSDs) as mass storage device for our computers. Undoubtedly, these storages are efficient and cost-effective. But none of these last forever.

Among the different limitations of these storages, bit rot is considered the most invasive one. It can make your data corrupt and, in severe cases, make them inaccessible. You should have a proper and detailed understanding of bit rot to protect your precious data.

What Is Bit Rot?

Bit rot refers to data deterioration that takes place in computer storage devices such as HDDs, SSDs, and digital tapes. This phenomenon is also known as data rot, data degradation, data deterioration, and data decay.

Sometimes, when SSD output or the reading head of the disks sends wrong data, it’s also called bit rot. In other terms, bit rot is the slow degradation of the data and files when they are stored in media devices like HDDs, SSDs, DVDs, CDs, digital tapes, etc.

In case of minimal deterioration, you can still access the files. But, when bit rot affects the complete device, you won’t be able to access the data. In fact, severe bit rot results in unrecoverable data bits that even data recovery applications can’t recover.

Format rot is another type of bit rot. It happens when modern computers stores file with an unsupported data format. For example, DOC is the older file format of DOCX. Though the latest Microsoft text document files are saved in DOCX format, it still supports DOC files. Therefore, you can still open and view DOC files on your modern computer.

Thus, you become unable to access the content of those old files using any hardware or software. This situation is called bit rot or format rot.

Galactorrhea Causes Symptoms Diagnosis And Treatment

Galactorrhea can be a symptom of some abnormality with the body or hormone imbalance, also, it can be because of prolactin. Condition milk leakage is very common and it can be seen in around 20 percent of the population with minor symptoms. The condition is more common in women than in men as they are the ones responsible for breastfeeding.

To understand galactorrhea it is important to know how milk production takes place in the human body. Milk production begins in the women’s breast when they are pregnant, the hormone signals the mammary glands for the production of milk for the child.

There are a lot of vital organs and hormones involved in the release of milk. Some of them are:

Alveoli. This sac produces and stores milk.

Milk ducts. This carries the milk from the alveoli to the nipples.

Areola. This is the area surrounding the nipple and is dark in color. This produces a sensation and indicates the hormones to release the milk.

Nipple. They contain very tiny pores that help the milk to come out of the breast.

Galactorrhea: Causes

Galactorrhea happens when the pituitary gland produces too much Prolactin. This hormone is responsible for the production of milk, the excess milk that produces needs to release otherwise, it will cause further pain and infection. The leakage is caused due to this release. This can happen in any gender. Also, this condition is common in infants.

The following are the important causes of developing Galactorrhea:

Medicines. Galactorrhea may happen due to the use of certain medications like birth control pills, blood pressure control, antidepressants, and diabetes.

Gender. Cases of galactorrhea are more in women than in men.

Infants. Infants also suffer from this problem and it generally goes away in a matter of time.

Thyroid. Thyroid too causes milk release problems.

Anxiety and stress, personality disorders, and other issues can cause hormonal changes in the body and can cause irregular lactation.

Breast stimulation and excessive use of the breast in sexual intercourse may arouse hormonal simulation that can cause lactation.

Breast cancer. Cancer and tumors are one of the most important reasons for lactorrhea. Tumors can affect the hormones of the breast and discharge of milk is common.

Injury. Injury to the chest due to an accident or any damage to the chest region may also cause lactation.

Some people also take herbal supplements to increase the size of the breasts like fenugreek, fennel seeds, etc. overdose of these supplements can cause milk leakage.

Kidney disease is also associated with galactorrhea.

Galactorrhea: Symptoms

A symptom of galactorrhea is the release of white milk-like discharge from either or both of the breasts. This can happen to either sex male or female and can happen to infants too.

Infection in the vagina is also a symptom

Some of the symptoms may cause headaches

Dryness in the vagina

Nausea and weakness

Menstrual periods get also affected by this condition

Blurry vision

Less sexual drive

Pain in the breasts

New hair growing in the chest area

Galactorrhea: Risk Factors

Several factors play an important role in the development of Galactorrhea which includes:

Sex. Galactorrhea cases are more in women than in men.

Age. Leakage of milk is a known condition for infants and people who are at adolescent age and had recent pregnancies.

Diseases. Patients suffering from other hormonal diseases like thyroid are at greater risk for this problem.

Personality disorder. Personality disorders like anxiety and stress, bipolar, and borderline can cause hormonal changes in the body and can cause irregular lactation.

Sexual intercourse. During sexual intercourse, breast stimulation plays an important role and some people overdo this and may suffer breast-related issues.

Cancer and tumors. People suffering from cancer and tumor are also at risk for galactorrhea.

Medicines. Some of the medicines which are used to treat other underlying diseases can cause galactorrhea.

Accidents. A person who has suffered Injuries to the chest can develop a leakage problem.

Supplements. Uses of supplements to correct or increase the size of the breasts like fenugreek, fennel seeds, etc. increases the risk for lactation.

Galactorrhea: Diagnosis

The diagnosis of Galactorrhea is mainly done based on observation and some of the tests may be required for confirmation and to rule out underlying causes:-

Physical examination. The doctor will physically examine your breasts and look for signs of abnormality in the nipples and other areas of sensation. He will also ask about the recent injury and will look for signs of any infection.

X-rays. X-rays may be used to check for another injury to the chest.

MRI. Magnetic Resonance Imaging is a useful modern technique used for imaging tumors and other issues related to the abnormality of the pituitary glands that secrete the hormone responsible for lactation.

Ultrasound. These scans are also useful along with all the above tests to confirm lumps in the breasts or nipples.

Blood test. This test provides the result of an infection in the blood and also confirms thyroid and other diseases.

Pregnancy test. Pregnancy can also be a reason for abnormal lactation.

Galactorrhea: Treatment

Medicines. Galactorrhea can happen due to some medication and the same needs to be stopped immediately in consultation with the doctor.

Thyroid treatment. Get your thyroid levels checked and start taking prescribed medication for it.

Try to avoid over-sensation in your breast area that triggers the hormone for lactation.

Breast cancer & tumor treatment. If the tumor or cancer is diagnosed the removal of the same may be suggested by your doctor.

Galactorrhea: Prevention

Some of the measures that can help to prevent Galactorrhea include:

Do not touch your breast unnecessarily.

Keep your breast free of any infection.

Wear a loose cloth to avoid nipples getting in contact with it.

Check for any irregular levels of thyroid or infection.

Do a pregnancy test.

Look for any lumps in the breast.

Look for any signs of changes in the nipple and nipple region.

Try to identify the milk or puss that comes from the nipple.

Do not try to drain the excess milk and consult your doctor.

Do not use any supplement for the enlargement of your breast.

Do not go for any surgery to perfect your shape.

Breastfeed your baby. Breastfeeding is very important to keep your breast away from infection and cancer.

Conclusion

Delirium Causes Symptoms Diagnosis And Treatment

Delirium is an acute organic mental disorder that is characterized by impairment of consciousness, disorientation, and disturbance in perception which occurs rapidly within hours to days. Delirium causes disturbances in mental abilities that result in confused thinking and reduced awareness of the environment.

Delirium affects the cognition of the individual. Cognition includes several specific functions, such as the acquisition and use of language, the ability to be oriented in time and space, and the ability to learn and solve problems. It includes judgment, reasoning, attention, comprehension, concept formation, planning, and the use of symbols, such as numbers and letters used in mathematics and writing.

Delirium is of three types −

Hypoactive delirium is characterized by inactivity or reduced motor activity, sluggishness, and abnormal drowsiness.

Hyperactive delirium is characterized by restlessness, agitation, rapid mood changes, or hallucinations.

Mixed delirium includes both hyperactive and hypoactive symptoms. The person may quickly switch back from hyperactive to hypoactive states.

Various causes such as vascular conditions, infections, certain medicines, trauma, and electrolyte imbalance are known to result in delirium

The diagnosis of delirium and its underlying causes is based on the history, presentation, nervous system evaluations, CSF analysis, EEG, imaging tests, blood tests like CBC with ESR, blood grouping, urine examination, and serum electrolytes.

Delirium: Causes

Various factors play an important role in the development of Delirium. The following are the important causes of developing delirium −

Vascular causes such as hypertensive encephalopathy and intracranial hemorrhage.

Various Infections such as Encephalitis, and meningitis

Neoplastic diseases such as space-occupying lesions

Fever and acute infection, particularly in children

Exposure to various toxins

Malnutrition or dehydration in children

Certain medications can trigger delirium, including painkillers, benzodiazepines, opioids, anticholinergics, anti-allergics, and anti-convulsant medicines

People with Sleep deprivation for a long duration or severe emotional distress

Following major Surgeries or other medical procedures that include anesthesia

Following traumatic injuries in patients having subdural and epidural hematoma, contusion, laceration, and heatstroke.

Vitamin deficiency such as thiamine

Endocrine and metabolic causes include diabetic coma and shock, uremia, myxedema, hyperthyroidism, and hepatic failure

Heavy metals such as lead, manganese, mercury, carbon monoxide, and toxins

Decrease in the oxygen supply to the brain in conditions like anemia, pulmonary or cardiac failure

Delirium: Symptoms

Symptoms of delirium usually begin over a few hours or a few days and often fluctuate throughout the day, and there may be periods of no symptoms. Symptoms tend to be worse during the night when it’s dark and things look less familiar. Patients with delirium mainly present with the following symptoms that include −

The patient has difficulty staying focused on a topic or switching topics and gets stuck on an idea rather than responding to questions or conversation

The patient is easily distracted by unimportant things and is being withdrawn, with little or no activity or little response to the environment

Poor thinking skills

The patient has poor memory, particularly of recent events

Disorientation to time place and person

Difficulty speaking or recalling words

Rambling or talking nonsense things

Face difficulty in understanding what others are talking

Difficulty reading or writing

Behavior changes such as Hallucinations, restlessness, agitation, calling out, making other sounds, being quiet and withdrawn, slowed movement or lethargy, disturbed sleep habits, reversal of night-day sleep-wake cycle

Emotional disturbances such as the individual being either anxious, scared, or depressed., Irritable or very excited sometimes. The mood shifts are rapid and unpredictable

Disturbance of the sleep-wake cycle, the patients find difficulty in falling asleep, total sleep loss, daytime drowsiness, and disturbing dreams or nightmares.

Delirium: Risk Factors

Several factors play an important role in the development of delirium which includes −

Older age group people are at more risk

Patients with a history of brain disorders such as dementia, stroke, or Parkinson’s disease

History of previous delirium episodes

Certain Infection

Certain Medications like pain killers, anti-psychotics and anticonvulsants

Individuals with visual or hearing impairment

Patients with multiple medical problems

Bone fracture

Delirium: Diagnosis

The diagnosis of delirium is mainly done based on history and some of the tests may be required for confirmation and to rule out underlying causes

History of symptoms, head injury, and meningitis should be asked for

Mental status assessment and neurological exams should be done. That includes checking vision, balance, coordination, and reflexes which help to determine if a stroke or another neurological disease is causing the delirium.

Tests for memory such as immediate, recent, and remote should be checked

Serum electrolyte to check for metabolic imbalance

Electroencephalography to check the electrical activity in the brain

Blood tests such as complete blood count, ESR, blood grouping

CSF analysis to look for meningitis

Urine examination

Brain biopsy may be required in required some patients

Delirium: Treatment Conservative Treatment

Conservative treatment includes −

The mainstay of the treatment for delirium includes treating the underlying medical condition which is causing the delirium. This may involve antibiotics for an infection, discontinuing a medication causing delirium, or treating metabolic or electrolyte imbalances.

Symptomatic treatment should be done. Treating the symptoms such as agitation, hallucinations, or other behavioral symptoms with antipsychotic medicines is required. Sedatives such as benzodiazepines may be used to calm the patient.

Supportive care is important for these patients. These patients require close monitoring and supportive care to prevent complications and ensure their safety.

Patients with delirium require close monitoring and follow-up care to ensure that their symptoms are improving and that they are not experiencing any complications.

Surgical Treatment

Surgical treatment may be required in some cases to treat the underlying cause which is causing delirium.

Delirium: Prevention

Some of the measures taken can help to prevent delirium to a certain extent include −

Underlying medical conditions should be treated adequately

Avoid the medicines that may cause delirium

A good amount of sleep

A healthy balanced diet containing balanced vitamins and micronutrients

Adequate hydration with plenty of water

Providing appropriate sensory stimulation such as natural light, music, and engaging activities may help prevent delirium.

Family care and support

Early recognition and management of delirium are important to prevent complications.

The patient should be under close monitoring to prevent the patient from self-harm

Regular follow-ups can help to identify the recurrence rate

Conclusion

Delirium is a condition in which the consciousness, orientation, and perception of an individual are altered. The patient is confused, his/her thinking capacity is affected and talks about unrelated things, faces difficulty in remembering things, and is disoriented to time, place, and person. Various causes can result in developing delirium such as vascular conditions, infections, certain medicines, trauma, and electrolyte imbalance. The patient may be agitated or depressed.

The condition is diagnosed based on the symptoms, clinical examination of the nervous system, memory tests, and by observing the patient’s behavior. Investigations like imaging tests, CSF analysis, blood tests, and urine examinations are required to look for the underlying causes. Treatment mainly involves treating the underlying cause, treating the symptoms accordingly, and supportive care. The condition can be prevented by avoiding the triggering factors and medicines, adequate sleep and hydration, adequate treatment of their health problems, and by regular health check-ups.

Entropion Causes Symptoms Diagnosis And Treatment

When you have entropion, your eyelid turns inward, causing your skin, eyelashes, and eye surface to rub together. It causes irritation and discomfort. Your eyelid may tilt inward with entropion either constantly or only when you blink vigorously or close your eyes tightly. Entropion often only affects the lower eyelid and is more prevalent in elderly persons.

Entropion symptoms can be reduced with the aid of artificial tears and lubricating creams. Nonetheless, surgery is frequently required to entirely treat the disease. Entropion can harm your cornea, infect your eyes, and impair your eyesight if it is not treated. It can also damage the translucent covering that covers the front of your eye.

Entropion: Causes

The following are the important causes of developing entropion −

Muscular lassitude. The tendons and muscles behind your eyes tend to sag as you get older. Entropion is most frequently caused by this.

Scars or signs of prior surgery. The natural curvature of the eyelid can be distorted by skin scarring caused by chemical burns, trauma, or surgery.

Eye disease. Several poor nations in Africa, Asia, South America, the Middle East, and the Pacific Islands suffer from trachoma, an eye illness. Entropion, blindness, and scarring of the inner eyelid can result from it.

Inflammation. You can try to rub or squeeze your eyelids shut to reduce eye irritation brought on by dryness or inflammation. This may cause the eyelid muscles to spasm and cause the lid’s edge to slide inward towards the cornea (spastic entropion).

Developmental difficulty. An additional fold of skin on the eyelid that results in turned-in eyelashes may be the source of entropion when it is congenitally present (existing from birth).

Entropion: Symptoms

The patient with entropion mainly presents with the following symptoms that include −

The impression that there is something in your eye

A reddened eye

Eye sensitivity or discomfort

Sensitivity to the wind and light

Moist eyes (excessive tearing)

Crusting on the eyelids and mucus discharge

When to Visit a Doctor?

If you have been told you have entropion and you suffer any of the following −

Your eyes’ redness rises quickly

Pain

Responsiveness to light

Reduced vision

These are indications of corneal damage, which might impair your eyesight.

If you feel as though there is always something in your eye or if you observe that portions of your eyelashes appear to be moving inward towards your eye, schedule an appointment with your doctor. Entropion might permanently harm your eye if you don’t address it promptly. Before your appointment, start moisturizing your eyes with eye ointments and artificial tears to safeguard them.

Entropion: Risk Factors

Several factors play an important role in the development of entropion which includes −

Age. Your chances of developing the condition increase with age.

Previous trauma or burns. The scar tissue that results from a burn or other facial injury may increase your chance of developing entropion.

Infection with trachoma. Those who have had trachoma are more prone to develop entropion because this illness can leave scars on the inner eyelids.

Entropion: Diagnosis

The diagnosis of the entropion is mainly done based on history and some of the tests may be required for confirmation and to rule out underlying causes

Typically, a regular eyecheck and physical may detect entropion. During the examination, your doctor could tug on your eyelids, urge you to blink or firmly close your eyes, or both. This enables him or her to evaluate the tightness, tone, and location of your eyelid’s muscles.

Your doctor will also check the surrounding tissue to see whether the entropion is brought on by scar tissue, past surgery, or some other problem.

Entropion: Treatment Conservative Treatment

The method of treatment is determined by the cause of your entropion. There are nonsurgical options available to manage symptoms and safeguard your eye.

When you treat the inflamed or infected eye, your eyelid may return to its natural alignment when active inflammation or infection results in entropion (spastic entropion). Entropion, however, could continue even after the other problem has been addressed if tissue scarring has taken place. In most cases, surgery is necessary to treat entropion, however, temporary solutions may be helpful if you can’t endure surgery or have to put it off.

Therapies

Botox. Lower eyelids can shift outward when botulinum toxin (Botox) in small doses is injected into the area. A series of injections may be given to you, with effects lasting up to six months.

Stitching causes the eyelid to turn outward. Using a local anesthetic, this surgery can be carried out in your doctor’s office. Your doctor will numb the eyelid before stitching it numerous times along the damaged eyelid.

The eyelid is turned outward by the sutures, and the ensuing scar tissue maintains its position even after the stitches are taken out. Your eyelid could move back inward after many months. So, this method isn’t a permanent fix.

Body tape. Your eyelid can be taped with special skin-transparent tape to prevent it from turning in.

Surgical Treatment

Surgical treatment may be required in severe cases. Your surgical procedure will be determined by the state of the tissue around your eyelid and the underlying reason for your entropion.

Your surgeon will probably cut a tiny portion of your lower eyelid if the cause of your entropion is age-related. The afflicted tendons and muscles are made tighter as a result. In the outside corner of your eye or just below your lower eyelid, you’ll need a few sutures.

A mucous membrane transplant utilizing tissue from the roof of your mouth or nasal passages may be performed by your surgeon if you have scar tissue on the inside of your lid, have undergone trauma, or have had prior procedures.

You might need to take rest after surgery. For a week, apply an antibiotic ointment on your eye. Periodically use cold compresses to reduce bruising and swelling

Entropion: Prevention

Entropion can seldom be stopped. The trachoma infection-related kind could be prevented. After visiting a region where trachoma infection is widespread, if your eyes start to become red and itchy, get checked out and treated very away.

Conclusion

Others may be consulted to help with management even though the ophthalmologist is virtually always engaged in the care of individuals with an eyelid deformity. This operation can also be handled by a face plastics surgeon. The nurses are an essential part of the interprofessional team since they will keep an eye on the patient’s vital signs and look for any indicators of a worsening condition.

Broken Foot Causes Symptoms Diagnosis And Treatment

Any damage to the bone of the foot is a fractured foot. A fractured foot might result from a simple slip or fall, an automobile accident, or both. A fractured foot can range in severity. Little fissures in the bones can become fractures, as can break that puncture the skin.

The specific location and degree of the fracture will determine the course of treatment for a fractured foot. Surgery may be necessary to implant plates, rods, or screws into a badly fractured foot to keep the damaged bone in the right position while it heals.

Broken Foot: Causes

The probable causes of a broken foot may include −

Auto mishaps. Car accidents frequently result in crushing injuries, which can break bones that need to be surgically repaired.

Falls. Your feet are susceptible to breaking if you trip and fall or if you land on your feet after a brief leap.

Impact caused by a large weight. Fractures are frequently caused by dropping anything heavy on your foot.

Missteps. Sometimes even placing your foot incorrectly might lead to a shattered bone. By stumbling your toes on furniture, you run the risk of breaking a toe.

Overuse. The weight-bearing bones in your foot are prone to stress fractures. These minute fissures are typically brought on over time by misuse or repeated force, such as long-distance jogging. But, they can also happen when a bone that has been weakened by a disease like osteoporosis is used normally.

Broken Foot: Symptoms

The major symptoms include −

Instantaneous throbbing ache

Pain that gets worse as you move about and becomes better when you rest

Swelling

Bruising

Tenderness

Deformity

Have trouble walking or carrying weight

When to Visit a Doctor?

If there is a clear deformity, if pain and swelling don’t improve with self-care, or if the discomfort and swelling worsen over time, see a doctor. Get a doctor if the injury makes it difficult for you to walk.

Foot fracture complications can occur.

Diseased bones (osteomyelitis). If you have an open fracture, in which one end of the bone protrudes through the skin, your bone may be exposed to pathogens that cause infection.

Damage to nerves or blood vessels. Every injury to the foot has the potential to rupture surrounding blood vessels and nerves. Get immediate assistance if you have any numbness or circulation problems. A bone that doesn’t get enough circulation may deteriorate and collapse.

Broken Foot: Risk Factors

The major risk factors include −

Engage in sports with high impact. Strains, direct impacts, and twisting mishaps that occur when participating in sports like basketball, football, gymnastics, tennis, and soccer can result in foot fractures.

Using improper technique or sporting equipment. Defective equipment, such as too-worn-out or ill-suited shoes, can result in stress fractures and falls. Foot problems can also be caused by ineffective training techniques, such as omitting a warm-up and a stretch.

You start moving around more. No matter if you’re an experienced athlete or you’ve only recently started working out, dramatically increasing the frequency or duration of your exercises may increase your risk of suffering a stress fracture.

Engage in specific vocations. In a variety of work environments, such as a construction site, you incur the risk of falling from a height or treading on something heavy.

Maintain an unorganized or poorly lit home. Walking aimlessly through a messy or dark home increases your chance of falling and being hurt on your feet.

Meet a few requirements. If you have osteoporosis, which lowers bone density, you run the risk of damaging the bones in your feet.

Broken Foot: Diagnosis

Your doctor will feel your foot for any sensitive spots during the physical examination. Your pain’s exact location can be used to identify its root cause.

To assess your range of motion, they could move your foot into various positions. To assess your gait, your doctor can ask you to walk a short distance.

Imaging Exams

One or more of the imaging tests listed below may be recommended by your doctor if your signs and symptoms point to a break or fracture.

X-rays. In X-rays, the majority of foot fractures may be seen. To avoid a lot of bone image overlap, the technician might need to take X-rays from several angles. Stress fractures frequently do not manifest on X-rays until the break has begun to mend.

A bone scan. A tiny quantity of radioactive substance will be injected into a vein by a technician for a bone scan. Your bones, especially the areas that have been injured, are drawn to the radioactive substance. In the generated picture, damaged regions, including stress fractures, appear as bright patches.

Computer-aided imaging (CT scan). In a CT scan, X-rays are collected from several angles and combined to create cross-sectional pictures of your body’s interior components. The best course of therapy may be decided by your doctor with the use of a CT scan, which can provide more information about the bone and the soft tissues that surround it.

Imaging with magnetic resonance (MRI). A powerful magnetic field and radio waves are used in MRI to provide incredibly precise pictures of the ligaments that support your joints.

Broken Foot: Treatment

Medications − An over-the-counter painkiller, such as acetaminophen, may be suggested by your doctor.

Techniques, both surgical and otherwise

Reduction. Your doctor may need to put the fragments back into their appropriate locations, a procedure known as reduction, if you have a displaced fracture, meaning the two ends of the fracture are not aligned. You might need to take a muscle relaxant, sedative, or even general anesthesia before this treatment, depending on how much pain and swelling you are experiencing.

Immobilization

Surgery

An orthopedic surgeon might occasionally need to use pins, plates, or screws to keep your bones in the right positions while they recover. If these materials are noticeable or uncomfortable, they may be removed once the fracture has healed.

Broken Foot: Prevention

You can take the following preventive measures to avoid the chances of getting a broken foot −

Wear the right footwear. If the ground is rocky, use hiking boots. If required, use steel-toed boots when working. Choose the right athletic footwear for your sport.

Regularly swap out your running shoes. Throw away shoes as soon as the tread or heel begins to deteriorate or if the wear is uneven. Running shoes should be changed every 300 to 400 kilometers.

Start gradually. It holds for both fresh fitness regimens and every workout.

Cross-train. Stress fractures can be avoided by alternating activities. Alternate between cycling and jogging.

Boost bone vigor. Milk, yoghurt, and cheese are just a few examples of calcium-rich foods that are excellent for your body. Supplementing with vitamin D can also be beneficial.

Clean up your home. Avoiding trips and falls can be made easier by keeping debris off the floor.

Conclusion

Foot fractures result in pain and edema. The pain is typically (but not always) so severe that it prevents you from walking. You might be able to walk with a broken toe since fractured toes hurt less. Foot bruising in the presence of a shattered bone is also typical.

Angelman Syndrome Causes Symptoms Diagnosis And Treatment

A hereditary condition called Angelman syndrome. It results in intellectual impairment, speech and balance issues, developmental delays, and occasionally seizures.

Angelman syndrome patients usually have joyful, vivacious dispositions and regularly grin and laugh. The Angelman syndrome often manifests as developmental impairments that start between the ages of 6 and 12 months. Between the ages of 2 and 3 years old, seizures can start.

Although Angelman syndrome cannot be treated, most affected individuals have near normal lifespans. Management of medical, sleep and developmental concerns is the main emphasis of treatment.

Angelman Syndrome: Causes

For the hereditary condition called Angelman syndrome, the ubiquitin-protein ligase E3A (UBE3A) gene, which is found on chromosome 15, is often the culprit.

A gene that is absent or broken. Your parents give you two sets of genes: a maternal copy (from your mother) and a paternal copy (from your father) (paternal copy). The information in both copies is normally used by your cells, but in a limited number of genes, only one copy is functional.

In the brain, the UBE3A gene normally exclusively expresses activity in the maternal copy. The majority of Angelman syndrome instances involve missing or damaged mother copies. When two paternal copies of the gene, rather than one from each parent, are inherited, it can occasionally lead to Angelman syndrome.

Angelman Syndrome: Symptoms

The major symptoms include −

Developmental delays, such as failure to babble or begin to crawl by 6 to 12 months

Intellectual handicap

Little or nonexistent speaking

Difficulty moving, balancing, or walking

Frequently grinning and giggling

A cheerful, vivacious personality

Feeding or sucking challenges

Difficulty falling and staying asleep

The following characteristics may also be present in those with Angelman syndrome −

Seizures, which often start between the ages of 2 and 3,

Jerky or stiff motions

Small head size and back of the head flatness

With the tongue out

Light-colored eyes, complexion, and hair

Unusual actions, such as walking with arms raised and hands flapping

Issues with sleep

Bent spine (scoliosis)

Angelman Syndrome: Complications

Patients with Angelman Syndrome can face the following complications −

Feeding problems. Infants that have trouble swallowing and sucking may have trouble eating. A high-calorie formula could be suggested by your physician to help your baby acquire weight.

Hyperactivity. Children with Angelman syndrome frequently switch between activities fast, pay little attention to what they are doing, and keep their hands or a toy in their mouths. Age frequently causes a reduction in hyperactivity, therefore medication is typically not required.

Sleep problems. Angelman syndrome patients frequently have irregular sleep-wake rhythms and may need less sleep than the average person. Age may make sleep issues better. Sleep problems may be managed with the use of medication and behavioral therapy.

The spinal column’s arc (scoliosis). Over time, some individuals with Angelman syndrome experience abnormal side-to-side spine curvature.

Obesity. The tendency of older Angelman syndrome patients to have enormous appetites might result in obesity.

When to Visit a Doctor?

Most infants with Angelman syndrome are born without any indications or symptoms. Between the ages of 6 and 12 months, developmental impairments including a lack of crawling or chattering are frequently the first indicators of Angelman syndrome.

Make an appointment with your kid’s doctor if your youngster exhibits any developmental delays or other Angelman syndrome symptoms.

Angelman Syndrome: Risk Factors

Rare is Angelman syndrome. Most of the time, scientists are unsure of what genetic abnormalities lead to Angelman syndrome. Most persons who have Angelman syndrome don’t have a history of the condition in their families.

On rare occasions, a parent’s Angelman syndrome may be passed down to a child. A newborn may be more likely to acquire Angelman syndrome if there is a family history of the condition.

Angelman Syndrome: Diagnosis

Your kid’s doctor could suspect Angelman syndrome if your child exhibits additional indications of the condition, such as seizures, mobility and balance issues, a small head size, a pleasant disposition, and developmental delays, particularly little or missing language.

A blood test nearly usually yields a conclusive diagnosis. This genomic examination can find chromosomal anomalies in your child that point to Angelman syndrome. The chromosomal abnormalities linked to Angelman syndrome can be identified using a combination of genetic testing. These exams might examine −

DNA pattern from parents. Three of the four known genetic disorders that cause Angelman syndrome are screened for by this test, known as a DNA methylation test.

Absence of chromosomes. If any chromosomes are missing, a chromosomal microarray (CMA) can demonstrate this.

Gene change. Rarely, a person’s maternal copy of the UBE3A gene may be active but mutated, resulting in Angelman syndrome. A UBE3A gene sequencing test to check for a maternal mutation may be prescribed by your child’s doctor if the findings of a DNA methylation test are normal.

Angelman Syndrome: Treatment

Angelman syndrome has no known treatment. Targeting certain genes for therapy is the focus of current research. The focus of current therapy is on controlling medical and developmental problems.

You will probably collaborate with a diverse team of medical specialists to manage your child’s illness. Treatment options for Angelman syndrome might vary depending on your child’s signs and symptoms and may include −

Drug to prevent and treat seizures

Physical therapy for issues with gait and mobility

Speech and communication treatment, which may use visual communication and sign language

Behavior therapy to aid in growth and combat hyperactivity and a lack of attention span

To address sleep difficulties, use medication and sleep instructions.

Changing one’s diet and using drugs might assist with gastrointestinal conditions such as difficulty eating and constipation.

Genetic Guidance

A de novo genetic change with a very low likelihood of recurrence causes the condition in people with Angelman Syndrome, who are often simplex instances (i.e., one afflicted family member). Less frequently, a genetic change linked to an imprinting pattern of autosomal dominant inheritance or variable recurrence risk causes an individual with Angelman Syndrome to have the condition.

Identification of the underlying genetic mechanism in the proband and verification of the parent’s genetic status is thus necessary for a reliable estimate of the risk of recurrence. Once the underlying genetic mechanism in the proband has been established, families have the option of prenatal detection of all known molecular genetic abnormalities in the 15q11.2-q13 area that cause Angelman Syndrome.

Agents or situations to avoid: Excessive use of sedative drugs to lessen hyperactive and motoric activity. When movement abnormalities are misdiagnosed as seizures and/or when EEG abnormalities continue even after seizures are under control, anti-seizure medicine is administered excessively.

Angelman Syndrome: Prevention

Rarely, a child with Angelman syndrome may inherit its genetic defects from an afflicted parent. Consider consulting your doctor or a genetic counselor for assistance in planning future pregnancies if you have concerns about a family history of Angelman syndrome or if you currently have a child who has the condition.

Conclusion

A severe neurodevelopmental condition with a complicated clinical presentation, Angelman syndrome is uncommon. There are several distinctive facial characteristics in a kid with a psychomotor delay that, when combined with hypopigmentation, a cheerful demeanor, jerky movements, and ataxia, should strongly suggest Angelman syndrome.

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