Symptoms, signs and treatment of Happy Doll (Angelman) syndrome

Angelman syndrome (AS) is a rare neurogenetic disorder that affects one in 15,000 births.

Synonyms

• happy, laughing doll (obsolete)
• Parsley syndrome, Parsley disease

It is often misdiagnosed as cerebral palsy or autism due to lack of awareness. Characteristics of the disorder include developmental delay, speech impediment, seizures, walking and balance disorders. Individuals with Angelman syndrome require lifelong care.

Research into Angelman syndrome is on the cusp of discovering possible treatments to reverse the debilitating symptoms.

Forms

Angelman syndrome is associated with four types of genetic mutations:

• A newly emerged chromosomal mutation, which is associated with the loss of a section of the chromosome at locus 15 q11 - q13. This mutation is the cause of about 80% of all cases of the disease.
• Unipaternal disomy, which is associated with the loss of the maternal locus (lack of maternal genetic material). This option is rare (about 5% of all cases).
• A defect in a number of genes subject to genomic imprinting (GI). These defects occur in 2-4% of patients as a result of a direct violation of imprinting (differences in the conversion of gene information into protein or RNA, which depend on the origin of the gene). Most often occurs as a result of loss of the GI regulatory center. GI defects without loss of the regulatory center are the result of a spontaneous mutation, the repetition of which is very rare.
• A spontaneous mutation in the maternal copy that causes the brain copy of the UBE3A gene to fail to transform. This gene encodes the activity of ubiquitin ligase (an enzyme involved in the complex process of protein breakdown). Deficiency of this enzyme is one of the molecular mechanisms of the syndrome.

It is currently not possible to establish the form of the disease in 7-9%.

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Causes

Angelman syndrome is associated with mental and neurological developmental delays

It is impossible to identify unambiguous factors for the occurrence of pathology in children. In most cases, a change in the composition of chromosome 15 is determined, but the defects in it are of a different nature. In 10% of patients, chromosomal abnormalities are not detected.

Possible changes in chromosome 15:

• deletion, i.e. loss of part of the genetic material. Angelman syndrome is often diagnosed with a 15q12 deletion. This area is associated with the activation of a large number of genes involved in the development of the nervous system and internal organs;
• in 3–5% of pathological cases, geneticists detect uniparental disomy. This is a condition in which the child’s karyotype contains two paternal chromosomes 15. There is no maternal copy;
• In the prenatal period of development, the UBE3A locus, localized on chromosome 15, plays an important role. When it is epigenetically “switched off,” symptoms of the disease develop;
• a mutation in the UBE3A locus is detected in 5–10% of sick children.

Patients with pathology and their parents need consultation with a geneticist. The specialist conducts molecular genetic studies aimed at identifying the cause of Angelman syndrome.

What is parsley syndrome?

Angelman (Parsley) syndrome is a genetic disorder that causes developmental delays, severe learning difficulties, and typical appearance and behavior. English doctor Harry Angelman first described it in 1965 - children have "flat heads, jerky movements, protruding tongues and fits of laughter."

The most common age at diagnosis of the disease is between three and seven years of age, when signs of Angelman disease become most obvious. Infants appear normal at birth but often have feeding problems in the first months of life and exhibit marked developmental delays by 6–12 months.

Attacks often begin between 2 and 3 years of age. Speech impairment is severe, often accompanied by hyperactivity, small head size, sleep and motor disorders (ataxia), and unprovoked episodes of laughter and smiling.

Angelman syndrome - what is it?

This pathology is a congenital disease. It develops in utero. This disorder was first described by a British pediatrician, Dr. Harry Angelman, in 1965. Back then, patients with this diagnosis were called “doll children.” The disease itself was called “happy puppet syndrome.” This disease has other names. One of them is Parsley syndrome. This pathology is accompanied by delayed physical and mental development, walking on straight legs and laughing for no reason. Outwardly, patients with this diagnosis look like dolls.

Angelman syndrome - causes

To this day, scientists are studying the factors that provoke the development of this pathology. Angelman syndrome develops more often, if genetics are disturbed. In other words, the likelihood of its occurrence increases when one of the parents has chromosomal defects. However, Angelman syndrome, Parsley syndrome, and the laughing doll syndrome can also appear spontaneously in a baby whose parents are completely healthy.

The following factors have a teratogenic effect on a child:

• bad habits of a pregnant woman;
• long-term use of psychotropic drugs by parents;
• strong feelings of the expectant mother, provoked by grief or excessive stress;
• an inflammatory process that affects the reproductive system of a pregnant woman;
• stay of the expectant mother in a zone of increased radiation radiation.

Angelman syndrome - type of inheritance

This pathology occurs due to a disturbance in the process of chromosome division. Angelman syndrome has a karyotype of 46 XX or XY. Defects are found in the 15th chromosome. The mutation manifests itself as follows:

1. Deletion
   is the loss of a piece of chromosome. Patients with this disorder suffer from severe mental retardation. These children in most cases cannot walk or talk. In addition, such patients are often overcome by epileptic seizures.
2. Duplication
   is the appearance of extra genes. If Angelman syndrome is diagnosed, patients are more likely to die in infancy. Sometimes such people survive until puberty.
3. Inversion
   is a defect in which part of a chromosome is missing. In this case, the genes are located in the reverse sequence.
4. Translocation
   - part of a chromosome is attached to another.
5. Uniparental disomy
   is a disorder in which a child inherits two copies of the father's set of chromosome 15. He does not receive maternal benefits.

Classification and symptoms of pathology

The clinical picture of the lesion is largely determined by the type of genetic defect that causes its occurrence. In medicine, it is customary to distinguish several types of disease:

• Loss of a section of chromosome 15 is the most common form of karyotype leading to symptoms in Angelman syndrome. It is diagnosed in 80% of cases.
• In 5% of patients, there is a loss of part of the maternal genetic information. A section of chromosome 15, which should be obtained from a woman's egg, is replaced with material from the sperm's DNA. This phenomenon is known as paternal disomy.
• Several genes can mutate at once. This problem is registered only in 3–4% of cases. Angelman syndrome in children with a similar defect is caused by disturbances in the imprinting process. This occurs as a result of mutation of the genes that control this mechanism.
• Some patients experience spontaneous formation of the defect. In such cases, a gene located in the child’s brain is transformed. This structure is responsible for the fermentation of proteins. Symptoms develop against the background of a deficiency of this compound.

In 6–8% of cases, it is not possible to determine the type of lesion.

Angelman syndrome is associated with various clinical manifestations, including:

• Retarded mental and physical development. A specific symptom is a decrease in the volume of the skull. A child with Parsley syndrome is difficult to learn, since the disease is associated with disruption of the brain.
• A characteristic sign of defeat is that the baby tends to constantly smile and laugh. However, there are often no reasons for such behavior. Patients appear cheerful and willing to make contact with other children and adults. It is this manner that allows doctors to suspect the presence of a disorder.
• Neurological symptoms are also common. They include tremor, hyperactivity of the upper limb girdle, and a specific gait. Children move in such a way that their legs remain straight. This gave the original name to the pathological condition - happy doll or puppet syndrome. Some patients experience seizures, which worsen their prognosis.
• Language dysfunction is a common problem in children with Angelman syndrome. At the same time, doctors often note a good understanding of the words of others, combined with difficulty expressing their own thoughts. The problem leaves a serious imprint on the social life of patients.
• Deformations of the skull, its cerebral and facial parts are also possible. Children have a massive chin pushed forward, a wide mouth, as well as anomalies in the formation and development of teeth.

It is characteristic that symptoms intensify on average at the age of 5–7 years. In newborns, the clinical picture is in most cases nonspecific and does not allow one to suspect the syndrome. Specific disorders that confirm the diagnosis are noted in the preschool period and are often associated with a lag behind peers in mental and physical development.

The main problem with the disease remains a decrease in communication skills, as well as difficulties in self-care. About 80% of patients with Angelman syndrome express their thoughts in 3–4 words. Children and adults with a genetic abnormality communicate well using gestures, so they widely use them in everyday life. This characteristic only proves relatively high intellectual abilities. Formal languages ​​remain difficult to access, as a result of which the methods of interaction with other people are individual in each case. It has been proven that patients with Engelman syndrome are unable to think abstractly.

Self-care skills also vary. The vast majority of people with a genetic abnormality are able to walk independently, relieve themselves, and use cutlery. Patients learn to communicate food preferences. They may need assistance with bathing and wearing clothes with buttons and zippers. At the same time, many actions performed by patients in everyday life require control. This need is due to the fact that people with Angelman syndrome completely lack a sense of danger. However, with proper support from loved ones, they adapt well to external conditions.

Angelman syndrome causes

In this disease, certain genes on chromosome 15 are missing. Most cases are characterized by a partial deletion or mutation of chromosome 15. With Angelman syndrome, the maternal chromosome is affected, and in case of changes in the paternal chromosome, Prader-Willi syndrome develops. Often the syndrome is caused by a spontaneous chromosomal defect, which is characterized by the absence of a contiguous region consisting of four million base pairs of DNA in places q11-q13 of the 15th chromosome.

Angelman syndrome has a karyotype of 46 XX or XY, 15r. Independent studies identify mutations in the UBE3A gene as the causes of Angelman syndrome. The enzymatic component of a complex protein degradation system is considered the product of this gene.

Notes

• X-linked mental retardation. (Russian). Center for Molecular Genetics at the Medical Genetic Research Center of the Russian Academy of Medical Sciences. Retrieved May 8, 2021.
• Yamasaki K., Joh K., Ohta T., Masuzaki H., Ishimaru T., Mukai T., Niikawa N., Ogawa M., Wagstaff J., Kishino T.
  Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. (English) // Human molecular genetics. - 2003. - Vol. 12, no. 8. - P. 837-847. — DOI:10.1093/hmg/ddg106. - PMID 12668607.
• Petersen MB, Brøndum-Nielsen K., Hansen LK, Wulff K.
  Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county. (English) // American journal of medical genetics. - 1995. - Vol. 60, no. 3. - P. 261-262. — DOI:10.1002/ajmg.1320600317. - PMID 7573182.
• Steffenburg S., Gillberg CL, Steffenburg U., Kyllerman M.
  Autism in Angelman syndrome: a population-based study. (English) // Pediatric neurology. - 1996. - Vol. 14, no. 2. - P. 131-136. — DOI:10.1016/0887-8994(96)00011-2. - PMID 8703225.

What will a child with doll syndrome be like?

You may have noticed that your baby has developmental delays and have turned to your pediatrician for help. Because it is a rare disorder, doctors do not usually suspect Angelman syndrome in children.

When parents are told the diagnosis is laughing doll syndrome, they are not familiar with the characteristics of this disorder. For example, seizures, sleep problems, behavioral abnormalities, laughter, non-verbal communication, severe cognitive impairment, delayed speech development.

Early diagnosis is beneficial. First, you have more time to learn about what it means to raise a child with special needs. This can be daunting because there are many factors to consider, including: special education; doctors and specialists.

Diagnosis also means early treatment and access to services that can be of great benefit to the baby.

Late diagnosis is no less important. Although parents/caregivers may suspect that their child has special needs, receiving a genetic diagnosis opens the door to a broad base of knowledge and strategies that are effective in AS, as well as access to a community of people with similar experiences.

FAQ

What will the baby look like? This is a natural question - will he be able to sit or walk? You may ask, “Will the child speak or use sign language? How will it be to play with other children? Will he go to school? Can he ride a bike? How will it develop? »

Although no one can predict this accurately, we do know that not all children with AS experience the same degree and severity of symptoms. Your baby is the product of ~29,000 normally functioning genes at one time.

Despite the lack of a “cure” for the genetic defect, physical, psychological, and speech therapy are useful for children with developmental delays, regardless of genotype or actual development

It is a mistake to assume that all characteristics will be present in each individual to the degree described by clinicians for the syndrome as a whole.

Measuring developmental achievements or progress in areas such as when the child began to sit, walk, and play games. The difference is large even among children with a similar genotype.

Nutritional Features

A person with Angelman syndrome requires a nutritious diet. Given feeding and reflux problems, it may be helpful to seek advice from a nutritionist. If a child is unable to eat solid foods, parents should talk to a healthcare professional about a G-tube that provides nutrients through a surgical opening in the stomach.

The final thought is that although a person is born with loss of function of one gene, UBE3A (the "Angelman" gene), there are thousands of others that are fully functional. Yes, the diagnosis will be a life-changing event, but many other factors influence development and determine its overall quality.

The best thing any parent can do is get informed. Find a great doctor. Find other parents and join the Angelman Syndrome organization that best aligns with your values.

Small miracles happen every day. Leave the door open to let them in.

(All people pictured in this article have Angelman syndrome.)

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How is Angelman syndrome treated?

This is a genetic disease and, unfortunately, scientists have not yet found methods to treat it. But there are techniques that make life easier for such people and significantly improve their quality of life.

In each individual case, with a disease such as Angelman syndrome in children, the symptoms will be different. Therefore, an individual therapy method is developed for each patient.

There are several types of therapeutic treatment, they are as follows.

1. Since Angelman syndrome is characterized by seizures, convulsions, and epileptic attacks, antiepileptic drugs, or anticonvulsants, are recommended. They will significantly reduce the manifestations of these symptoms and allow you to control the patient’s condition.
2. Impaired motor skills and problems with motor functions are also symptoms of Angelman syndrome. Physical therapy classes and special training designed for such patients are necessary for their development. You need to do the exercises regularly and patiently, and then the work will be rewarded. Such children develop slowly, but with the patience of their parents a lot can be achieved.

Special classes help children with Angelman syndrome adapt to the outside world

Children with hypotension should be prescribed massage and special physiotherapeutic procedures. If a child has Angelman syndrome, treatment must include sign language. This will be very useful, both for them in further communication with people, and for the mothers and fathers themselves. Classes with a speech pathologist and speech therapist are recommended. Specially designed programs help to correctly and effectively teach children the rules of etiquette and behavior in society

They are designed to help patients cope with increased activity and learn to concentrate their attention. After undergoing such therapy, patients will find it easier to communicate with peers, and some can even start their own families. It is necessary to take a more careful approach to the preparation of the diet, since obesity is very often observed in such children, especially in girls.

In the presence of Angelman syndrome, metabolic processes in the body are disrupted, which can often lead to excess body weight with normal nutrition

1. In such patients, as a rule, the stool is disturbed; in this case, laxatives are prescribed.
2. For sleep disturbances, mild sleeping pills are prescribed.

Scientists have noticed that Angelman syndrome is very similar to a disease such as autism.

Clinical picture in detail

Different patients may exhibit different symptoms. This difference depends on the degree and type of chromosomal abnormality.

Signs can be divided according to the frequency of their manifestation in children with Angelman syndrome:

• Symptoms that appear in all patients . These include severe functional developmental delay, behavioral deviations (laughter and smiling for no reason, a state of happiness, increased excitability, decreased concentration). Also, absolutely all patients experience impaired motor functions, impaired balance, tremors, a predominance of nonverbal skills over verbal ones, and speech disorders.
• Symptoms characteristic of 80% of patients . Stunted growth leading to disproportion of the head relative to other parts of the body. This often leads to the development of microcephaly. Children under three years of age often experience epileptic seizures, then they become less frequent or disappear altogether. Electroencephalogram results are often abnormal, with low-level waves having increased amplitude and temporal dynamics.
• Symptoms that occur in less than 80% of patients . Such manifestations include strabismus, decreased ability to control tongue movements, problems with swallowing, hypopigmentation of the eyes and skin, albinism. Many patients experience increased activity of tendon reflexes. In early childhood, many people have problems with eating and sleeping. Manifestations also include drooling, tongue protruding, and constant thirst. External signs also include the presence of a flat back of the head and smooth palms.

As you grow older, the manifestations of the syndrome change. Sleep disorders, hyperactivity, and seizures are less common. Adults with Angelman syndrome appear younger than their peers.

Puberty occurs a little later than in individuals who do not have this pathology. Patients can have their own children, but there is a high risk of transmitting the disease to their offspring.

Many adult patients suffer from uncontrollable urination. Often there are difficulties with motor skills, which leads to the need to wear clothes without zippers and buttons. Among adult patients, there is a problem of excess weight, so it is necessary to monitor compliance with a special diet.

Children perceive oral speech well and understand the content of almost all conversations, but rarely respond. They often refuse to take part in the conversation and use several dozen words in their speech.

Clinical characteristics of the child

Outwardly, a sick child looks quite content and happy, however, this impression is deceptive .

Such children always have a severe delay in mental and physical indicators, which leaves a negative imprint on learning and communication with peers.

In severe cases, a persistent and significant impairment of hand motor skills develops, which makes the child unable to take care of himself (in particular, the child cannot independently fasten a button or zipper on clothes or shoes, or perform any other actions that seem quite ordinary to a healthy person) .

All this significantly worsens the child’s quality of life.

Children suffering from Angelman syndrome also have external differences , such as:

• flat face (its middle part), insufficient development of the facial bones of the skull;
• small and pointed chin;
• hypertrophied lower jaw, which protrudes strongly forward;
• a large and wide tongue that the child often sticks out;
• violations of the dentition, the presence of interdental spaces;
• small skull (the rest of the bones of the skeleton are of normal size, corresponding to age indicators);
• deformation (curvature) of the spine.

Features of the appearance of people with Angelman syndrome

People suffering from this defect may present some external signs. For example, we are talking about skeletal dysmorphism. Full list of these signs:

• Hypoplasia of the midface.
• Pointed chin.
• The lower jaw protrudes strongly forward.
• The tongue is too wide and sticks out (protrusion).
• The spaces between the teeth are too wide.
• Microcephaly is a small size of the skull with normal size of other bones.
• Scoliosis is a deformity of the spine.
• Pointed chin.

In addition, people with Angelman syndrome are prone to autonomic and somatic disorders. They do not tolerate hot weather well and often suffer from constipation and esophageal reflex.

The gait of patients also has its own characteristics. It is ataxic, that is, “twitchy.” A person looks like a puppet, which is what the original name of this syndrome was associated with. To maintain their body in a balanced state, patients make sudden movements with their hands.

Treatment

Angelman syndrome is an incurable disease, but today there are many options for supportive care. Thanks to it, the intensity of some symptoms is significantly reduced. Help to cope with pathology:

• anticonvulsants, which reduce the number of epileptic seizures and help control them;
• melatonin, which improves and prolongs sleep;
• medications for the prevention of gastroesophageal reflux in young children;
• behavioral and communication therapy that improves the quality of life of patients;
• occupational therapy for teaching self-care (for sick children, clothing without fasteners, buttons, and shoes without laces is preferable);
• physiotherapy;
• surgery for strabismus;
• wearing braces.

Angelman syndrome is not a progressive disease. With proper therapy, symptoms decrease, but in any case, patients need lifelong care.

If you notice any unusual development or behavior in your child, discuss it with your pediatrician. When examining a child, a specialist must exercise caution, as there is a high probability of making an erroneous diagnosis. Among the features, the doctor should pay attention first of all:

• for characteristic anomalies of the head and face;
• a happy smile;
• missed or delayed child development milestones, especially lack of speech;
• motor dysfunction (fine trembling, flapping of arms, stiff gait);
• history of development with seizures.

Of course, early diagnosis will allow you to take advantage of all therapeutic options that will help improve your child's life!

Angelman syndrome Genetic diseases Genetics Disease Children's diseases Disease Pathology

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Symptoms and signs

The clinical picture of the disease is very diverse and may differ in each specific case. In particular, the child exhibits physical and mental abnormalities , some signs are characteristic of all cases, others are much less common.

Clinical manifestations of the disease are also usually divided depending on their prevalence. Thus, there are symptoms that occur in all children suffering from this disease, signs that occur in most cases (but not always) and more rare manifestations.

The clinical manifestations of the disease change as the child grows older . Thus, in adolescent children there is a delay in puberty (while childbearing function is not impaired in the future), and when the child becomes an adult, he looks much younger than his peers.

Often, older children experience other manifestations of the disease , such as difficulty urinating, complex motor skills of the hands, problems with communication (the teenager understands spoken language, but does not see the need to respond to the interlocutor).

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Symptoms of Angelman syndrome

Manifestations of the disorder in the psycho-emotional sphere:

• developmental delay, including absence of babbling and crawling between 6 months and 1 year;
• learning disability;
• lack of speech or minimal speaking skills;
• unmotivated frequent laughter/smiling;
• the personality type can be described as joyful, exalted.

Symptoms of the disorder at the somatic level:

• seizures of epilepsy, which usually occur between the ages of 2 and 3 years;
• difficulty walking/moving, stiff or sharp angular movements due to the inability to control voluntary movements (ataxia);
• unusual behavior such as sudden flapping of arms, walking with raised arms and/or stiff legs;
• small head size with flattening in the occipital area (microbrachycephaly);
• hair, skin and eyes of a light shade (hypopigmentation);
• Sometimes children have a wide mouth, sparse teeth and a protruding tongue. In most cases, patients' facial features do not differ in anything unusual.

Separately, we should dwell on the features of speech development and motor skills characteristic of people with Angelman syndrome.

Most children with this disorder have an extremely poor vocabulary, which may be limited to a few words (up to one or two dozen). This causes significant difficulties in the socialization of a child who has Parsley syndrome.

At the same time, children with such a disorder - as a rule - understand not only simple commands, but are also able to absorb information in a volume that significantly exceeds their ability to communicate and express thoughts.

As for motor skills, in addition to the manifestations described above, “Parsley” children can often hold their arms raised and bent at the elbows and wrists, and periodically wave their arms in moments of excitement or while walking. It was this similarity to the movements of a puppet, coupled with their angularity and stiffness against the background of the patients’ frequent exaltation, that became the reason for calling the disorder happy doll syndrome.

They may experience both decreased muscle tone in the trunk (hypotonia) and increased muscle tone in the extremities (hypertension), as well as abnormally exaggerated reflex reactions (hyperreflexia). Some children develop fine tremors in the arms and legs. These disorders may appear between 6 months and 1 year of age.

The acquisition of some milestone motor skills, such as walking, is delayed.

In cases of relatively mild forms of the disease, children can begin to walk at 2-3 years of age. In more severe cases, upright walking is slowed down and occurs jerkily - “rigidly”, which also resembles the movements of a puppet. Some children do not walk until they are 5 to 10 years old. Approximately 10% of patients are unable to move without assistance.

Necessary diagnostics

Confirming the presence of a problem begins with taking a history and examining the child. As a rule, suspicion of Angelman syndrome arises due to the specific behavior and appearance of the patient. However, to make an accurate diagnosis, genetic tests will be required. The examination of the child also includes standard blood tests, which make it possible to exclude other possible disorders that are accompanied by the development of a similar clinical picture. Computed and magnetic resonance imaging is also widely used to obtain layer-by-layer photos of bone structures and the brain. Such studies are necessary in the presence of neurological symptoms.

Causes

Our cells contain 23 pairs of chromosomes. Each pair contains copies of chromosomes from the father and from the mother. Chromosome 15 contains the UBE3A gene, which is different in that it functions in brain cells and only on the chromosome of maternal origin. The copy from the father is inactive.

Angelman syndrome is caused by the absence or malfunction of this gene on the maternal chromosome, which impairs neurological development.

There are four types of genetic abnormalities:

• Chromosome loss (about 70% of cases): random loss of a small region "15q 11-12" of the 15th chromosome of maternal origin, containing the UBE3A gene.
• Mutation of the UBE3A gene (about 20% of cases).
• Chromosome 15 is paternal in origin (3 to 5% of cases): both chromosomes come from the father, both copies of the UBE3A gene are inactive.
• Isolated fingerprint abnormality (3 to 5% of cases): Maternally derived chromosome 15 is present but does not have a fingerprint that identifies it as such. Therefore, the UBE3A gene is inactive.

Another non-genetic origin of the pathology has also been put forward. It is characterized by abnormalities in the formation of the egg, during reproduction or during embryonic development.

History of the study of the disease

The disease is named after Harry Angelman, a British pediatrician who first differentiated this syndrome in 1965. Then it was called happy puppet syndrome, but today this term is not used, as it was considered disparaging.

Dr. Angelman had treated several children with similar symptoms and suspected a common diagnosis. It was not possible to prove the diagnosis and obtain accurate data at that time due to the lack of technologies that are available today. The doctor reflected his guesses in an article entitled “Children of Puppets.”

At that time, the publication did not arouse much public interest, and was soon forgotten. It was remembered again in the eighties, when the necessary research methods appeared. Scientists have found that most children suffering from the syndrome are missing a small part of chromosome 15.

Features of education

Clinical manifestations of the disease may disappear or change with age, replacing each other. It all depends on the conditions and emotional environment in which the sick baby lives. Children suffering from this disease need special treatment from their parents .

In particular, you should never focus a child’s attention on the fact that he is sick, defective, or different from other children.

A sick child, like all other children, needs love, affection, and understanding from people dear to him.

Of course, in order to instill in a child basic skills and at least some independence, parents will have to work hard, because actions that are considered normal for other children cause serious difficulties for a sick child.

However, if you follow the recommendations of your doctor and regularly conduct special physical and educational activities with your child, the chance that your child will live a more or less comfortable life increases significantly.

Angelman syndrome main causes

The most important reason for the occurrence of this disease is genetic. The problem is that chromosome 15 divides incorrectly and this can cause it to lose copies of normal maternal genes.

Another reason may be a mutation of paternal genes, paternal disomy (the presence in a cell of two sets of chromosomes identical in structure) or trisomy.

If a child received a modified copy from one of the parents, then he is at risk, especially if he received a maternal copy.

During pregnancy, the expectant mother is offered to undergo testing, which will help identify congenital pathologies of the baby.

Since chromosome-related diseases are considered incurable (treatment has not yet been developed), such a test can prepare parents for the problem they will have to face in the future.

In some particularly severe cases, the mother is offered to terminate the pregnancy.