The neurological symptoms of Angelman syndrome may also be accompanied by certain distinctive facial features.
Angelman Syndrome
Your nervous system is the main organ affected by the uncommon, complicated neurodevelopmental disorder known as Angelman syndrome. It is brought on by problems with the UBE3A gene.
The control centre of your body is your neurological system. It is controlled by your brain and governs your actions, thoughts, and instinctive reactions to your environment.
The Following Characteristics Of Angelman Syndrome Include:
- developmental delay that is frequently apparent between the ages of 6 and 12 months.
- intellectual handicap
- Speech is absent or is extremely restricted.
- problems with balance and mobility (ataxia).
- Seizures.
- Angelman syndrome patients frequently have a cheerful, animated demeanour. They regularly make hand movements, grin, and laugh.
- The illness known as Angelman syndrome was initially described in 1965 by an English doctor named Dr. Harry Angelman.
Who Is Impacted By Angelman Syndrome?
- Despite being uncommon, any foetus can get Angelman syndrome. Most instances are caused by spontaneous gene mutations, indicating that the illness is not inherited from the child’s biological parent(s) or parents.
- Both those born as females and those born as males are equally impacted.
The Frequency Of Angelman Syndrome?
- Rare is Angelman syndrome. About 1 in 12,000 to 20,000 persons are impacted.
Is Angelman Syndrome A Component Of Autism?
It can b challenging to differentiate between autism spectrum disorder and Angelman syndrome in the early stages of development since they both share traits including speech difficulties and developmental delays. However, the autism spectrum does not include Angelman syndrome. They are separate ailments.
- Causes and Symptoms
- What signs indicate Angelman syndrome?
- There are several symptoms or traits associated with Angelman syndrome, and they range from person to person and with age.
- Angelman syndrome common signs
- About 80% to 99% of patients with Angelman syndrome experience the following symptoms throughout the course of their lifetimes:
- Slow development
- Learning disorders.
- Problems with speech development, which can range from not communicating at all (being nonverbal) to utilising a limited number of words.
- Walking difficulties, such as clumsiness and a wide-based walk (gait).
- Ataxia
- Seizures.
Facial Features Of Angelman Syndrome
Common facial features of Angelman syndrome include:
- A short and broad skull (brachycephaly).
- Abnormally large tongue (macroglossia) that may stick out of their mouth.
- Abnormally small head
- A big lower jaw (mandibular prognathic).
- Wide mouth.
- Widely spaced teeth.
Symptoms Of Angelman Syndrome Specific To Children
Children with Angelman syndrome typically have distinctive behaviours (in addition to the characteristic symptoms), including:
- A happy, excitable attitude.
- Frequent smiling and laughing.
- Frequent hand-flapping motions.
- Hyperactivity and a short attention span.
- Difficulty sleeping and needing less sleep than other children.
- A fascination with water.
People with Angelman syndrome tend to get less excitable as they get older, and their sleep issues usually get better.
Why Does Angelman Syndrome Occur?
Angelman syndrome is characterised by several symptoms that are brought on by the dysfunction of the UBE3A gene. Before a baby is born, several changes take place early in foetal development.
An alteration in the DNA sequence is referred to as a genetic mutation. Your cells receive the information they require to carry out their functions from your DNA sequence. You could exhibit signs of a genetic disorder if part of your DNA sequence is incomplete or damaged.
The UBE3A gene is typically inherited in one copy from each biological parent. In many of the tissues in your body, both copies of this gene are “turned on” (active). However, in other regions of your brain, only the maternal copy (which you got from your birth parent) is active.
You won’t have active copies of the UBE3A gene in specific regions of your brain if the maternal copy is deleted due to a chromosomal alteration or a gene mutation. This results in the neurodevelopmental disease known as Angelman syndrome’s signature symptoms.
Angelman syndrome symptoms can occur in roughly 70% of instances when the UBE3A gene is partially deficient or absent. In 11% of instances, structural alterations to UBE3A can also cause Angelman syndrome.
The UBE3A gene’s abnormalities often arise spontaneously (at random), not through inheritance (passed down). The development of Angelman syndrome occurs in a tiny percentage of children who don’t inherit a typical copy of chromosome 15 from their birth parent (for instance, they could get two copies of chromosome 15 from their other biological parent).
Healthcare professionals are unable to identify the underlying aetiology of Angelman syndrome in 10% to 15% of cases. In certain instances, the disorder may be caused by modifications to other genes or chromosomes.
Tests and Diagnosis
How Is The Syndrome Of Angelman Identified?
Angelman syndrome doesn’t often manifest its recognisable symptoms at birth. Children between the ages of one and four have the ailment most frequently diagnosed by medical professionals. However, due to the vast variety of symptoms and severity associated with Angelman syndrome, this can change.
Other disorders that closely resemble Angelman syndrome might potentially be mistaken for it, including:
- The autism spectrum condition.
- The cerebral palsy.
- the Mowat-Wilson condition.
- Christianity on syndrome
- Pitt-Hopkins disease
- Prader-Willi disease
- The Phelan-McDermid syndrome
Genetic testing that looks for mutations to the UBE3A gene is the only reliable approach to identify Angelman syndrome.
What Diagnostic Procedures Are Used To Identify Angelman Syndrome?
Angelman syndrome is often diagnosed in young children, however it can occasionally be found in pregnant women by healthcare professionals (before birth).
Prenatal Diagnosis Of Angelman Syndrome
Prenatal ultrasounds can occasionally help doctors diagnose Angelman syndrome before your child is born. They search for indicators of foetal growth problems.
Recent research has demonstrated that non-invasive prenatal screening (NIPS) may diagnose Angelman syndrome before delivery with a high degree of accuracy. NIPS is a technique for estimating the likelihood that your child will be born with specific genetic anomalies. Small DNA fragments that are floating about in a pregnant person’s blood are examined by this test.
Angelman Syndrome Identification After Delivery
Angelman syndrome is often diagnosed in children between the ages of one and four by medical professionals. If your child’s growth is delayed and they exhibit the syndrome’s tell-tale symptoms, they could suspect the disorder.
Several specialised blood tests are used by healthcare professionals to confirm the diagnosis of Angelman syndrome. Several genetic tests are carried out in the lab by scientists to seek for:
- Any missing chromosomes or chromosomal segments.
- Modifications to your child’s UBE3A gene that might prevent it from functioning.
- Any modifications to the UBE3A gene that either biological parent may have passed on.
It’s crucial to understand the genetic mutation responsible for Angelman syndrome if your child has it. By doing so, you can ascertain if you might be carrying the Angelman syndrome gene for future generations.
The following tests may also be requested by your child’s doctor to aid in the diagnosis or look for any potential complications:
- Electroencephalogram (EEG): An EEG monitors and captures electrical impulses coming from your child’s brain. A technician will apply tiny metal discs called electrodes to your child’s scalp during the EEG. The electrodes connect to a device that provides information about your child’s brain activity to their healthcare physician. This test can reveal any epileptic activity and the typical brain activity pattern of Angelman syndrome, which can aid in the diagnosis.
- A sleep study, also known as polysomnography, is a test that can identify any sleep problems, which are frequent in children with Angelman syndrome.
Administration and Therapy
How Is The Syndrome Of Angelman Treated?
Angelman syndrome doesn’t have a primary therapy. Instead, healthcare professionals target treatment for each kid with Angelman syndrome according to their unique set of symptoms. The best quality of life for a kid with Angelman syndrome depends on early identification and treatment.
A group of professionals may need to work together during treatment, including:
- Paediatricians.
- Neurologists.
- Physical and occupational therapists.
- SLPs (speech-language therapists).
- Behavioural therapists
- Gastroenterologists.
- Nutritionists.
The management of symptoms may entail actions and therapies like:
- Anticonvulsants, which are prescribed to those who have seizures.
- Physical therapy to aid with challenges with walking, posture, balance, and to avoid joint stiffness.
- Wearing ankle or foot braces to facilitate walking.
- Behavioural treatment and rigorous observance of night-time rituals to treat sleep issues.
- Therapy for behavioural modification to assist in modifying undesirable habits.
- Communication treatments and aids, such as sign language, hand gestures, and the use of specialised computer communication tools, for enhancing social and academic communication.
Is Angelman Syndrome Treatable?
Currently, there is no treatment for Angelman syndrome. The goal of treatment is to reduce the condition’s symptoms.
Prevention
Angelman Syndrome: Is It Preventable?
Unfortunately, Angelman syndrome cannot often be prevented since it develops spontaneously (at random) during the foetus’s development in the uterus. Most often, there is no established reason why this occurs.
Angelman syndrome is inherited by a tiny proportion of the population. If you intend to have a biological child, discuss genetic testing with your healthcare provider to determine your risk of giving birth to a kid who has a genetic disorder or a disorder that can be brought on by an inherited genetic mutation.
OUTLOOK / PROGNOSIS
If My Child Has Angelman Syndrome, What Can I Anticipate?
It’s crucial to keep in mind that not every child with Angelman syndrome experiences its effects in the same manner. Although there are significant differences in the degree of these symptoms, all individuals with Angelman syndrome will experience some kind of developmental delay, speech impairment, and movement (motor) disability.
It’s hard to know with confidence how it will influence your child. Speaking with medical professionals that specialise in treating Angelman syndrome is the greatest method for you to get ready and assist your kid in receiving the finest treatment.
What Is The Angelman Syndrome Prognosis (Outlook)?
The following variables affect the prognosis (outlook) for someone with Angelman syndrome:
- Genetics is to blame (big deletions of the UBE3A gene have a worse prognosis).
- When your child was diagnosed.
- The degree of symptom severity.
- The extent of counselling and assistance your kid can get to help them manage their symptoms.
The majority of those who have Angelman syndrome will live regular lives. They won’t experience any developmental regression, and with supportive care and self-help skills, their behavioural problems could become better.
Due to their conduct, most persons with Angelman syndrome require ongoing care. Early diagnosis and treatment with speech, physical, and occupational therapy dramatically enhance the prognosis.
How Long Will Someone With Angelman Syndrome Live?
People with Angelman syndrome appear to live virtually normal lives.
Living With
How Should I Care For My Kid Who Has Angelman Syndrome?
Follow your kid’s healthcare professionals’ directions for the following to assist take care of your child with Angelman syndrome:
- Administering any medicines as directed.
- Receiving speech, occupational, and physical treatments as well as developmental evaluation
- Attending all subsequent doctor’s appointments.
Angelman syndrome affects mobility and behaviour, and children with it are likely to require assistance with daily activities for the rest of their lives.
The medical staff of your kid can provide information and assistance. Additionally, they might be able to suggest a nearby or online support group.
When Should My Child Schedule A Medical Appointment?
- If your kid has been identified as having Angelman syndrome, they will need to visit their medical team frequently to ensure that their therapies and treatments are effective.
- What inquiries should I make of my physician regarding Angelman syndrome?
- Asking the following questions of your child’s medical professionals whether they have Angelman syndrome might be beneficial:
- Which therapies can help my child’s symptoms be managed the best?
- How can I assist my child in improving communication?
- If I want to have additional kids, should I get genetic counselling or testing?
- How can I effectively prepare for the future assistance my kid may require?
- • Is there a local family support group that we may join?
Final words for all
It might be overwhelming to learn that your kid has Angelman syndrome. You and your family can get support from a variety of places, so be aware that you’re not alone. For the optimal care, it’s crucial that your kid has a team of medical professionals who are experienced with the condition.
Conclusion:
Angelman syndrome is a rare neurodevelopmental disorder caused by problems with the UBE3A gene, leading to symptoms such as developmental delay, intellectual disability, speech difficulties, and seizures. Facial features such as a short and broad skull, abnormally large tongue, and wide mouth may also be present. The disorder is not inherited from the child’s parents and can affect both males and females.
Last worded from the author:
“The UBE3A gene is typically inherited in one copy from each biological parent, but in Angelman syndrome, the gene is not functioning properly.”
Also Read
