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Angelman syndrome : Causes - Symptoms- Diagnosis -Treatment

 What Is Angelman Syndrome?

Angelman syndrome is a complex genetic sickness that mostly influences the worried device. Characteristic capabilities of this circumstance encompass delayed development, intellectual disability, excessive speech impairment, and troubles with motion and stability (ataxia). Most affected youngsters additionally have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed improvement becomes great by means of the age of 6 to 365 days, and different common signs and symptoms and signs commonly appear in early formative years.

Children with Angelman syndrome typically have a satisfied, excitable demeanor with common smiling, laughter, and hand-flapping movements. Hyperactivity and a quick interest span are not unusual. Most affected kids also have trouble snoozing and want much less sleep than traditional.

With age, humans with Angelman syndrome grow to be much less excitable, and the sound asleep problems have a tendency to enhance. However, affected people keep having intellectual disability, intense speech impairment, and seizures at some point of their lives. Adults with Angelman syndrome have one of a kind facial capabilities that may be defined as "coarse." Other not unusual features encompass strangely truthful pores and skin with mild-coloured hair and a bizarre side-to-side curvature of the backbone (scoliosis). The existence expectancy of humans with this situation seems to be almost normal.

What Is Angelman Syndrome?


Angelman syndrome is an unprecedented, complicated neurodevelopmental situation that basically affects your apprehensive machine. It’s caused by issues with a specific gene called UBE3A.

Your worried machine is your body’s command in the middle. Originating from your brain, it controls your movements, mind, behaviors and automatic responses to the world around you.

  1. Musculoskeletal system
  2. Nervous system
  3. Peripheral nervous system

Medical terms

  • Angelman syndrome is a genetic disorder that affects the nervous system. It is associated with physical and developmental delays, including mental disability, speech impairment, and balance issues. This disorder is caused by a mutation in a gene responsible for the production of proteins. It affects one in 15,000 people worldwide and is characterized by frequent bouts of laughter, an inability to produce speech, and jerky movements.

  • Angelman Syndrome is a rare genetic disorder that affects approximately one in 15,000-20,000 live births. It was first described by Dr. Harry Angelman in 1965 and is known to cause developmental delays, intellectual disabilities, motor impairments, and speech difficulties. Physical characteristics often associated with this syndrome include a wide mouth with a protruding tongue, jerky movements, and frequent laughter. Angelman Syndrome can be caused by deletion of genetic material on the long arm of chromosome 15, mutation of the UBE3A gene, or a lack of maternal contribution to the expression of the UBE3A gene.

  • Angelman syndrome is a genetic disease. It reasons not on time improvement, problems with speech and stability, intellectual incapacity, and, occasionally, seizures.

  • People with Angelman syndrome frequently smile and giggle regularly, and feature satisfied, excitable personalities.

  • Developmental delays, which start between about 6 and three hundred and sixty five days of age, are commonly the first symptoms of Angelman syndrome. Seizures may start between the ages of 2 and 3 years old.

  • People with Angelman syndrome have a tendency to stay near an ordinary life span, however the disorder cannot be cured. Treatment focuses on dealing with scientific, sleep and developmental issues.

Angelman syndrome is a unprecedented genetic and neurological ailment characterized with the aid of intense developmental postpone and gaining knowledge of disabilities; absence or close to absence of speech; inability to coordinate voluntary movements (ataxia); tremulousness with jerky actions of the legs and arms and a distinct behavioral pattern characterized by means of a satisfied disposition and unprovoked episodes of laughter and smiling. Although people with the syndrome may be not able to speak, many steadily discover ways to communicate through different manners consisting of gesturing. In addition, kids might also have sufficient receptive language potential to apprehend easy styles of language conversation. Additional signs and symptoms may arise together with seizures, sleep problems and feeding problems. Some kids with Angelman syndrome might also have different facial capabilities however most facial functions replicate the ordinary parental traits. Angelman syndrome is due to deletion or atypical expression of the UBE3A gene.

Characteristic features of Angelman syndrome include:

  • Developmental delay that’s often noticeable by six to 12 months of age.

  • Intellectual disability.

  • No speech or very limited speech.

  • Issues with movement and balance (ataxia).

  • Seizures.

Angelman syndrome is a rare neurogenetic disorder that affects the developing brain before, during or shortly after birth It is caused by gene deletions or mutations of the maternally derived chromosome 15. A majority of cases are caused by maternal deletions The symptoms are due to a dearth of normal protein synthesis in certain areas of the developing brain in utero and as an infant It is characterized by severe developmental delay intellectual disability movement disorders and seizures The disease was first described in 1965 by Dr Harry Angelman (after whom it was named) and colleagues who reported the case of a 14-year-old boy with severe learning difficulties and behavioral problems who had previously been thought to be mentally retarded Angel.

or happy puppet syndrome Angelman syndrome is a rare neurogenetic disorder characterized by severe developmental delay and episodes of inappropriate laughter crying or silliness These mood shifts are usually triggered by environmental events such as being startled or seeing something unexpected Individuals with Angelman syndrome have a happy demeanor and appear to be unaware that anything is wrong They are often inappropriately affectionate but appear to be motivated by pleasure rather than hunger or pain The syndrome is named after British researcher Harry Angelman who first described it in 1965.

Symptoms Angelman syndrome

Angelman syndrome has several unique signs, or traits, and they vary from man or woman to individual and with age.

Angelman syndrome signs and symptoms include:

  • Developmental delays, including no crawling or babbling at 6 to 12 months

  • Intellectual disability

  • No speech or minimal speech

  • Difficulty walking, moving or balancing well

  • Frequent smiling and laughter

  • Happy, excitable personality

  • Sucking or feeding difficulty

  • Trouble going to sleep and staying asleep

People who have Angelman syndrome can also show the subsequent functions:

  • Seizures, usually beginning between 2 and 3 years of age

  • Stiff or jerky movements

  • Small head size, with flatness in the back of the head

  • Tongue thrusting

  • Hair, skin and eyes that are light in color

  • Unusual behaviors, such as hand flapping and arms uplifted while walking

  • Sleep problems

  • Curved spine (scoliosis)

When to see a doctor

Most toddlers with Angelman syndrome don't show signs or signs at the beginning. The first signs and symptoms of Angelman syndrome are typically developmental delays, which include loss of crawling or babbling, between 6 and three hundred and sixty five days.

If your baby seems to have developmental delays or in case your child has different signs and symptoms or signs and symptoms of Angelman syndrome, make an appointment together with your child's health practitioner.

Causes Angelman syndrome

  • Many of the characteristic capabilities of Angelman syndrome result from the loss of characteristic of a gene known as UBE3A. People generally inherit one replica of the UBE3A gene from each parent. Both copies of this gene are turned on (lively) in most of the body's tissues. However, in nerve cells (neurons) in the mind and spinal twine (important anxious machines), the copy inherited from someone's mother (the maternal reproduction) is active. This parent-unique gene activation is because of a phenomenon referred to as genomic imprinting. If the maternal replica of the UBE3A gene is misplaced because of a chromosomal trade or a gene version (additionally referred to as a mutation), someone will not have any active copies of the gene in most components of the brain.
  • Several exceptional genetic mechanisms can inactivate or delete the maternal replica of the UBE3A gene. Most instances of Angelman syndrome (about 70 percent) occur while a phase of the maternal chromosome 15 containing this gene is deleted. In different cases (approximately 10 to 20 percent), Angelman syndrome is caused by a variation within the maternal copy of the UBE3A gene.
  • In a small percentage of cases, Angelman syndrome results whilst a person inherits two copies of chromosome 15 from his or her father (paternal copies) rather than one reproduction from each discern. This phenomenon is known as paternal uniparental disomy. Rarely, Angelman syndrome can also be due to a chromosomal rearrangement known as a translocation, or by means of a version or different illness inside the region of DNA that controls activation of the UBE3A gene. These genetic modifications can abnormally flip off (inactivate) UBE3A or different genes on the maternal reproduction of chromosome 15.
  • The reasons for Angelman syndrome are unknown in 10 to fifteen percent of affected people. Changes related to different genes or chromosomes can be responsible for the disease in those cases.
  • In a few human beings who have Angelman syndrome, the loss of a gene known as OCA2 is associated with mild-coloured hair and truthful pores and skin. The OCA2 gene is positioned at the phase of chromosome 15 that is regularly deleted in people with this disorder. However, lack of the OCA2 gene does not cause the opposite signs and symptoms and signs and symptoms of Angelman syndrome. The protein created from this gene facilitates the coloring (pigmentation) of the pores and skin, hair, and eyes.

Angelman syndrome is a genetic disease. It's commonly due to troubles with a gene positioned on chromosome 15 referred to as the ubiquitin protein ligase E3A (UBE3A) gene.

A missing or defective gene

You receive your pairs of genes out of your dad and mom — one replica from your mom (maternal replica) and the other out of your father (paternal replica).

Your cells generally use statistics from both copies, however in a small range of genes, the handiest one reproduction is active.

Normally, the handiest maternal replica of the UBE3A gene is lively in the mind. Most instances of Angelman syndrome occur whilst part of the maternal copy is lacking or damaged.

In some cases, Angelman syndrome is prompted when two paternal copies of the gene are inherited, instead of one from every figure.

Risk factors Angelman syndrome

Angelman syndrome is rare. Researchers commonly do not know what causes the genetic modifications that result in Angelman syndrome. Most people with Angelman syndrome do not have a circle of relatives records of the sickness.

Occasionally, Angelman syndrome may be inherited from a parent. A family history of the disease may also increase a toddler's chance of developing Angelman syndrome.

Complications Angelman syndrome

It’s vital to remember that no two kids with Angelman syndrome are affected in the same way. While everybody with Angelman syndrome will have a few forms of developmental delay, speech impairment and motion (motor) impairment, there are many variations in the severity of these signs.

It’s not possible to predict with reality how your baby may be affected. The satisfactory way you can put together and help your toddler get the first-class care is to speak to healthcare vendors who concentrate on treating Angelman syndrome.Complications related to Angelman syndrome consist of:

  • Feeding difficulties. Difficulty coordinating sucking and swallowing can also cause feeding issues in babies. Your pediatrician may additionally recommend excessive-calorie components to assist your child gain weight.

  • Hyperactivity. Children with Angelman syndrome regularly pass quickly from one pastime to another, have a quick interest span, and keep their arms or a toy in their mouths. Hyperactivity frequently decreases with age, and remedy usually is not necessary.

  • Sleep disorders. People with Angelman syndrome frequently have unusual sleep-wake styles and can require much less sleep than the majority. Sleep difficulties may additionally improve with age. Medication and behavior therapy may assist in manipulating sleep problems.

  • Curvature of the spine (scoliosis). Some people with Angelman syndrome increase an atypical side-to-side spinal curvature over the years.

  • Obesity. Older children with Angelman syndrome tend to have huge appetites, which may additionally result in obesity.

Prevention Angelman syndrome

In uncommon instances, Angelman syndrome may be surpassed from an affected figure to a baby via defective genes. If you're involved in approximately your own family history of Angelman syndrome or if you have already got an infant with the disease, bear in mind speaking for your physician or a genetic counselor for help making plans for future pregnancies.

Unfortunately, in maximum cases, there’s no way to prevent Angelman syndrome since it occurs due to spontaneous (random) genetic abnormalities while the fetus is growing in the womb. In maximum instances, this occurs without a recognised motive.

A small percent of human beings with Angelman syndrome inherit the condition. If you intend on having a biological infant, talk with your healthcare company about genetic testing to understand your risk of getting an infant with a genetic situation or a situation that can be caused by an inherited genetic mutation.

What medication do people with Angelman syndrome take?

People with Angelman syndrome take medication to control seizures and to manage the sleep-wake cycle Other medications are given to relieve anxiety, depression , mood swings and involuntary movements associated with the disorder.

Could Angelman syndrome be prevented?

The answer to this question is yes Angelman syndrome can be prevented It is vital to understand that while it is not necessarily inherited the risk of contracting the disease increases if you have a family history of it For those who are genetically susceptible to Angelman syndrome there are preventative measures such as avoiding alcohol and drugs during pregnancy and getting regular prenatal screenings Top 10 Causes of Sleep Disorders in Older Adults The senior population suffers from many sleep disorders According to the National Center on Sleep Disorders Research about 50% of people over 65 have trouble sleeping Some may have medical issues that cause them to wake up frequently at night Others may simply have trouble falling asleep for various reasons In any.

What is the long term outlook for a child with Angelman syndrome?

A child with Angelman syndrome is not expected to live beyond the teen years because of a number of potential complications most significantly seizures Children with Angelman syndrome will require special attention throughout their lifetime including physical speech and occupational therapy They may eventually need to be fed through a tube and will also require some type of care for daily living skills.

Can you live a normal life with Angelman syndrome?

Angelman syndrome (AS) is a genetic disorder caused by a missing or defective copy of chromosome 15. The symptoms of AS range from mild to severe and can include developmental disabilities, intellectual disability, speech and language delays, sleep problems and seizures People with AS usually have normal lifespans and are able to live independently.

Do babies with Angelman syndrome babble?

Babies with Angelman syndrome are often described as “happy” or “smiling” babies because they do not cry much Even though these babies lack the ability to babble they do develop other forms of communication Consequently parents should look for certain types of motor movements that can be used to communicate feelings such as happiness and pain For instance when they are happy they may clap their hands together wave at you or laugh When in pain they may stiffen their legs and arms or start jerking them around Babies with Angelman syndrome typically stop making eye contact by around 12 months old; therefore it is especially important to watch for nonverbal communication skills between 6 and.

Diagnosis Angelman syndrome

A prognosis of Angelman syndrome can be made based totally upon an in depth affected person records, an intensive scientific evaluation and identification of characteristic findings. About eighty% of cases can be confirmed through a variety of specialized blood exams which include DNA methylation (detects, however, does not discriminate between chromosome deletion, imprinting center defect and paternal uniparental disomy). Fluorescent in situ hybridization (FISH) or, most usually, microarray chromosome evaluation can discover the feature deletion (seen in 70% of instances) of chromosome 15q11-q13 in cells of the frame. Mutation analysis of the Angelman gene, UBE3A, can hit upon about 10% of people with Angelman syndrome who've bad DNA methylation research. Mutation evaluation of UBE3A may be both ordered particularly as a single take a look at but, greater often now, UBE3A mutations are recognized by using use of a whole exome sequencing panel that consists of a set of many genes recognised to motive highbrow deficiency or when one plays a whole whole exome sequencing take a look at (e.G., a screening test on approximately 20,000 genes).

Your child's physician may also suspect Angelman syndrome if your infant has developmental delays, particularly minimum or absent language, and other symptoms and symptoms of the ailment, along with seizures, issues with movement and stability, a small head length, and a glad demeanor.

Tests

A definitive analysis can nearly constantly be made through a blood test. This genetic checking out can perceive abnormalities in your infant's chromosomes that suggest Angelman syndrome.

An aggregate of genetic exams can screen the chromosome defects related to Angelman syndrome. These tests may also overview:

  • Parental DNA pattern. This take a look at, referred to as a DNA methylation test, displays three of the four recognized genetic abnormalities that cause Angelman syndrome.

  • Missing chromosomes. A chromosomal microarray (CMA) can show if quantities of chromosomes are lacking.

  • Gene mutation. Rarely, Angelman syndrome may additionally occur when someone's maternal reproduction of the UBE3A gene is energetic, however mutated. If outcomes from a DNA methylation test are normal, your child's doctor may order a UBE3A gene sequencing take a look at to look for a maternal mutation.

Treatment Angelman syndrome

At this time, treatment plans for Angelman syndrome are symptomatic and supportive. Several clinical trials on Angelman syndrome are ongoing (see underneath) but there may be no genetic remedy or healing remedy available. Advances in neuroscience and in gene therapy techniques however maintain incredible capability for presenting meaningful treatment and/or treatment of the syndrome.

The general bodily health of those with Angelman syndrome is good and ordinary pediatric care, including standard youth immunizations, may be furnished.

Anti-seizure medicines (anticonvulsants) are beneficial to those experiencing seizures. Usually seizures may be properly controlled with an unmarried remedy but in some instances seizure control may be difficult and a couple of medicines are needed. No one anticonvulsant drug has been demonstrated to be handiest in all instances. Sleep disorders are commonplace and might require behavioral remedy and adherence to strict bedtime workouts. At times, sedating medications may be helpful.

Feeding problems can be handled with the aid of modified breast feeding methods and via an approach inclusive of unique nipples to help infants with a terrible capability to suck. Gastroesophageal reflux can be dealt with with the aid of upright positioning and pills that resource the movement of meals through the digestive device (motility tablets). Surgical tightening of the valve that connects the esophagus to the stomach (esophageal sphincter) can be required in some instances. Laxatives may be used to treat constipation.

Ankle braces/supports and bodily therapy can assist in success on foot. Scoliosis can expand in about 10% and might require braces or surgical correction. In a few instances, strabismus may additionally require surgical correction.

Early intervention is vital to ensure that children with Angelman syndrome reach their capability. Special services that may be useful to kids with Angelman syndrome may additionally include unique social help and other scientific, social, and/or vocational services. Most children with Angelman syndrome gain from bodily, speech and occupational remedy. Behavioral change therapy can be used to discourage undesirable behaviors. Use of special verbal exchange devices which includes computer picture-based structures, voice emitting gadgets and other current makes use of era all assist Angelman syndrome individuals provide for advanced studying and social conversation.

Genetic counseling is recommended for the households of those with Angelman syndrome.

There's no remedy for Angelman syndrome. Research is specializing in targeting unique genes for remedy. Current treatment focuses on dealing with scientific and developmental problems.

A multidisciplinary crew of fitness care experts will probably paint with you to control your infant's condition. Depending in your child's signs and symptoms and signs, treatment for Angelman syndrome might also contain:

  • Anti-seizure medication to control seizures

  • Physical therapy to help with walking and movement problems

  • Communication and speech therapy, which may include sign language and picture communication

  • Behavior therapy to help overcome hyperactivity and a short attention span and to aid in development

  • Medications and sleep training to manage sleep issues

  • Dietary changes and medications To help with gastrointestinal troubles such as feeding difficulties and constipation

Coping and support

Finding out that your baby has Angelman syndrome can be overwhelming. You won't recognize what to expect. You might also fear your ability to take care of your infant's clinical concerns and developmental disabilities. There are assets that can assist.

Work with a team

Find a crew of doctors and therapists you agree with that will help you with crucial decisions approximately your baby's care and remedy. These specialists also can assist you discover nearby sources.

Consider a support group

Connecting with different households dealing with similar demanding situations might also assist you feel less alone. Ask your child's medical doctor for statistics about neighborhood help agencies and other beneficial corporations.

Preparing for your appointment

Call your medical doctor in case your infant or toddler isn't attaining expected developmental milestones or has different signs or signs common to Angelman syndrome. Your medical doctor may additionally then refer you to a physician who specializes in conditions that have an effect on the mind and worried device (neurologist).

Here's some statistics that will help you get prepared for your appointment.

What you can do

  • Write down signs or symptoms you've noticed in your child, And for the way long they have been happening.

  • Bring baby books and other records of your child's development to the appointment. Photographs and video recordings can be helpful.

  • List your child's key medical information, Inclusive of other conditions for which your baby is being dealt with, and the names of medicines, nutrients or supplements that they take.

  • Ask a family member or friend to join you for your child's appointment. If your infant's physician mentions the opportunity of a developmental sickness, you may have great difficulty specializing in something the medical doctor says subsequently. Take a person along who can offer emotional assistance and will let you bear in mind the facts.

  • Write down questions to ask your doctor.

Questions to ask your child's doctor include:

  • What is likely causing my child's signs and symptoms?

  • Are there other possible causes for these signs and symptoms?

  • What tests does my child need?

  • Should my child see a specialist?

Questions to ask a specialist include:

  • Does my child have Angelman syndrome?

  • What are the possible complications of this condition?

  • What therapies are available?

  • What treatment do you recommend?

  • What is the long-term outlook for my child?

  • Should my child or I be tested for the genetic mutations associated with this condition?

  • What other specialists should my child see?

  • How can I find other families who are coping with Angelman syndrome?

Don't hesitate to ask other questions, as well.

What to expect from your doctor

A health practitioner who sees your toddler for viable Angelman syndrome is probably to invite you a number of questions, including:

  • What are your child's signs and symptoms and when did you notice them?

  • Does your child have feeding problems?

  • Is your child reaching the expected, age-related physical milestones?

  • Have you noticed problems with balance, coordination or movement?

  • Does your child laugh, smile or express excitement more often than his or her peers?

  • Does your child express excitement with unusual physical behaviors, such as hand flapping?

  • Does your child communicate verbally?

  • How well does your child sleep?

  • Has your child had seizures? If so, how often?

  • Have any of your child's first-degree relatives — such as a parent or sibling — been diagnosed with Angelman syndrome?

General summary

  1. Angelman syndrome is a severe neurological disorder that is characterized by slow physical and mental development abnormal body movements jerky reflexes and seizures Common symptoms include wide-eyed staring floppy limbs and difficulty controlling movement People with Angelman syndrome can have many different medical problems including heart defects digestive disorders hearing loss and intellectual disability Babies born with the disorder are typically normal at birth but quickly begin to experience developmental delays as they age.

  2. Angelman Syndrome is a rare genetic disorder that affects the nervous system. It is characterized by developmental delays, speech impairment, seizures, and unique physical features. Symptoms of the disorder typically appear during childhood and may include a lack of coordination, limited motor skills, an absence of speech, and an excitable personality. Additionally, those with Angelman Syndrome may experience significant learning difficulties as well as a decreased ability to regulate their emotions.

  3. Angelman Syndrome (AS) is a genetic disorder that causes severe developmental delay, intellectual disability, and other neurological impairments. Affected individuals often have seizures, sleep disorders, jerky movements, speech impairments, and problems with balance and coordination. AS is caused by a gene mutation or deletion on the chromosome 15. It is usually passed down from the father to the child, though it can also occur randomly.

  4. Angelman syndrome (AS) is a genetic disorder that is caused by changes to the UBE3A gene. This genetic condition affects the nervous system and can cause intellectual disability, developmental delay, and a range of physical characteristics. People with Angelman syndrome can find it difficult to develop language and communication skills, as well as motor skills. Additionally, those with AS often experience seizures and sleep disturbances.

Angelman syndrome : Causes - Symptoms- Diagnosis -Treatment

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