Williams syndrome: how the pathology is diagnosed and whether a cure is possible

Williams syndrome: how the pathology is diagnosed and whether a cure is possible

24.05.2022 0 By admin

Williams syndrome is a genetic disease that is diagnosed among people of both sexes. It occurs quite often – in 1 out of 20,000. This genetic disease is inherited in an autosomal dominant manner – a deletion (loss of a section) occurs on a long section of the 7th chromosome, which leads to the development of the syndrome.

The first signs of pathology can be seen in newborns in appearance, as they grow older, the symptoms become more pronounced. To confirm the diagnosis, a molecular genetic analysis is performed. Unfortunately, it is not possible to cure Williams syndrome, but it is possible to improve the child’s quality of life. In this article, we will talk about the symptoms and signs of the disease, and also consider the features of teaching children with Williams syndrome.

williams syndrome causes

General characteristics of Williams Syndrome

Signs of Williams syndrome include changes in appearance, developmental patterns, and intelligence. Features of appearance are sometimes visible immediately after the birth of a child, so the second name of this syndrome is the “elf face” syndrome.

Williams syndrome occurs against the background of hereditary chromosomal rearrangement, with this genetic disorder the face is significantly different – it is more elongated than in other children. Also stands out a modified section of the eyes, an unusual shape of the ears.

Also a sign of Williams syndrome is a general mental retardation with the development of certain areas of intelligence.

Violations are associated with an altered set of genes. People with Williams disease lack several genes that are present in the genetic makeup of a healthy person.

Different people may be missing a different number of genes. The intensity of symptoms and its nature will depend on this indicator. For the first time, pathology was characterized by doctors in the 60s. The main cause of the syndrome is considered a sudden mutation.

The mutation leads to the fact that from 1.6-1.8 million base pairs fall out of the gene chain. The disorder is equally common among both girls and boys.

The karyotype in such children is incomplete, which leads to insufficient production of various substances. For example, with incomplete production of elastin, a person subsequently has problems with organs in which this substance is present – diseases of blood vessels, heart valves, and hypertension develop.

General symptoms of Williams syndrome

Williams Syndrome is not in vain otherwise called the “elf face”. The characteristic features of the face are the distinguishing feature. Symptoms are visible in the baby immediately after birth.

The disease is characterized by the following altered features of appearance:

  • plump lips;
  • flattened nose bridge;
  • sagging cheeks;
  • ears located lower than in healthy children;
  • protruding occipital area on the head;
  • blue iris with a pronounced pattern;
  • converging strabismus.

In addition to the characteristic signs in appearance, the doctor examining the child may notice a weak muscle tone, an altered shape of the skeleton.

If the disease manifests itself in a mild degree, the doctor may not notice the signs of the disease, deciding that these are individual characteristics. In this case, the karyotype lacks a smaller number of nucleotide pairs, due to which the symptoms are not so pronounced.

Signs in the first year of life

Sometimes the disease is not diagnosed immediately. If there is a suspicion of the development of Williams syndrome, the child is observed. Diagnosis can be complicated by the fact that the symptoms are different.

Against the background of a genetic disease, the following pathologies can develop:

  • congenital dislocation of the hip;
  • inguinal hernia;
  • umbilical hernia;
  • heart disease.

When examining a child, doctors pay special attention to the work of the heart. Systolic murmurs may be heard. In the presence of any abnormal phenomena, an additional examination is prescribed. An ultrasound of the heart is performed. Based on its results, stenosis of the pulmonary artery, supravalvular stenosis of the aorta can be detected.

Monitoring a child with suspected Williams syndrome often leads the doctor to discover other signs of pathology. The development of children with such a diagnosis does not correspond to generally accepted age norms. They slowly gain weight, grow in length. More often, newborns with this pathology are born with insufficient weight.

Williams syndrome in children

Symptoms of the disease in old age

The degree of damage to the gene set affects the severity of symptoms. As the child grows, the signs of Williams syndrome become even more pronounced. Against the background of weakness of the muscular corset, the shoulder girdle droops. The back of such children is more rounded, the chest is sunken. The shape of the legs is changing, many have flat feet.

Signs of the “elf face” gradually become less noticeable, but an unusually large distance between the base of the nose and the upper lip catches the eye. The bridge of the nose ceases to be so flat, facial features take on a more adult look, but massive brow ridges are formed.

Neurological changes

Children with Williams syndrome have a specific appearance, as well as a characteristic feature is a general delay in mental development, with the development of certain areas of intelligence.

Depending on the severity of the mutation, developmental abnormalities may be minor. Speech abilities are most often at a high level, the child is able to master a good vocabulary. Children are open to communication, with proper training they can learn to read and write well.

The problems faced by children with Williams syndrome and their parents include the lack of organizational skills. Sometimes a child may suffer from obsessive repetitive actions, unjustified fears. A small percentage of patients experience enuresis.

Regardless of the severity of the syndrome, children have an excellent ear for music in the complete absence of mathematical abilities. The main character traits are good nature, obedience. Children are usually very friendly, their emotional coloring never becomes negative. They actively make contact, are capable of partial social adaptation. If the violations are quite pronounced, it is worth using auxiliary educational institutions.

Diagnostic measures

It is often possible to suspect Williams syndrome by external signs (“elf face”), by the nature of the development of the child emotionally and physically, especially in mental development, with a general delay in which some areas of the intellect are developed. But in order to make a diagnosis and obtain an official medical opinion, it is necessary to undergo a series of procedures.

To confirm Williams disease, the following procedures are performed:

  • a biochemical blood test to detect elevated calcium levels;
  • electrocardiogram for diagnosing valve insufficiency, stenosis;
  • molecular genetic analysis.

It is the molecular genetic study that allows you to accurately determine what caused the violations in the state of health of the child. Such an analysis involves the use of a special DNA microchip that detects abnormalities in the formation of the 7th chromosome. As a result, the absence of its site becomes apparent.

Can Williams syndrome be treated?

Since Williams disease is a genetic pathology, it cannot be treated. The goal of any therapy with such a diagnosis is to maximize the patient’s quality of life, to create the necessary conditions.

Surgery may be required if the baby was born with severe disabilities. More often, doctors have to perform operations to correct heart defects. Such interventions are most effective in infancy.

Features of teaching children with the syndrome

Williams syndrome treatment training

Although intellectual abilities may be reduced, the level of mental development of the child depends largely on the efforts of the parents. When the right educational measures, psycho-correctional work are carried out, children master communication skills well. The risk of backwardness is reduced.

Although children with Williams syndrome learn worse than their peers and require an individual approach, they are able to absorb educational material. The humanities, writing, reading, music are best suited to them.

In order for the child to develop better, it is important to create a favorable atmosphere in the family. At home, friendliness and warmth should reign. To facilitate social adaptation, it is necessary to undergo a course of psychotherapy.

The prognosis of life in people with Williams syndrome is favorable. Although patients live less against the background of concomitant diseases, with timely treatment of these pathologies, one can live with such a diagnosis until old age. The disease is detected more often soon after birth, requires proper psychological correction and medical supervision. If necessary, surgical and drug therapy is used, a sick person is provided with comfortable living conditions.

Video

Read the next article: Sudden Infant Death Syndrome

Photo: © Depositphotos

Williams syndrome: how the pathology is diagnosed and whether a cure is possible

24.05.2022 0 By admin

Williams syndrome is a genetic disease that is diagnosed among people of both sexes. It occurs quite often – in 1 out of 20,000. This genetic disease is inherited in an autosomal dominant manner – a deletion (loss of a section) occurs on a long section of the 7th chromosome, which leads to the development of the syndrome.

The first signs of pathology can be seen in newborns in appearance, as they grow older, the symptoms become more pronounced. To confirm the diagnosis, a molecular genetic analysis is performed. Unfortunately, it is not possible to cure Williams syndrome, but it is possible to improve the child’s quality of life. In this article, we will talk about the symptoms and signs of the disease, and also consider the features of teaching children with Williams syndrome.

williams syndrome causes

General characteristics of Williams Syndrome

Signs of Williams syndrome include changes in appearance, developmental patterns, and intelligence. Features of appearance are sometimes visible immediately after the birth of a child, so the second name of this syndrome is the “elf face” syndrome.

Williams syndrome occurs against the background of hereditary chromosomal rearrangement, with this genetic disorder the face is significantly different – it is more elongated than in other children. Also stands out a modified section of the eyes, an unusual shape of the ears.

Also a sign of Williams syndrome is a general mental retardation with the development of certain areas of intelligence.

Violations are associated with an altered set of genes. People with Williams disease lack several genes that are present in the genetic makeup of a healthy person.

Different people may be missing a different number of genes. The intensity of symptoms and its nature will depend on this indicator. For the first time, pathology was characterized by doctors in the 60s. The main cause of the syndrome is considered a sudden mutation.

The mutation leads to the fact that from 1.6-1.8 million base pairs fall out of the gene chain. The disorder is equally common among both girls and boys.

The karyotype in such children is incomplete, which leads to insufficient production of various substances. For example, with incomplete production of elastin, a person subsequently has problems with organs in which this substance is present – diseases of blood vessels, heart valves, and hypertension develop.

General symptoms of Williams syndrome

Williams Syndrome is not in vain otherwise called the “elf face”. The characteristic features of the face are the distinguishing feature. Symptoms are visible in the baby immediately after birth.

The disease is characterized by the following altered features of appearance:

  • plump lips;
  • flattened nose bridge;
  • sagging cheeks;
  • ears located lower than in healthy children;
  • protruding occipital area on the head;
  • blue iris with a pronounced pattern;
  • converging strabismus.

In addition to the characteristic signs in appearance, the doctor examining the child may notice a weak muscle tone, an altered shape of the skeleton.

If the disease manifests itself in a mild degree, the doctor may not notice the signs of the disease, deciding that these are individual characteristics. In this case, the karyotype lacks a smaller number of nucleotide pairs, due to which the symptoms are not so pronounced.

Signs in the first year of life

Sometimes the disease is not diagnosed immediately. If there is a suspicion of the development of Williams syndrome, the child is observed. Diagnosis can be complicated by the fact that the symptoms are different.

Against the background of a genetic disease, the following pathologies can develop:

  • congenital dislocation of the hip;
  • inguinal hernia;
  • umbilical hernia;
  • heart disease.

When examining a child, doctors pay special attention to the work of the heart. Systolic murmurs may be heard. In the presence of any abnormal phenomena, an additional examination is prescribed. An ultrasound of the heart is performed. Based on its results, stenosis of the pulmonary artery, supravalvular stenosis of the aorta can be detected.

Monitoring a child with suspected Williams syndrome often leads the doctor to discover other signs of pathology. The development of children with such a diagnosis does not correspond to generally accepted age norms. They slowly gain weight, grow in length. More often, newborns with this pathology are born with insufficient weight.

Williams syndrome in children

Symptoms of the disease in old age

The degree of damage to the gene set affects the severity of symptoms. As the child grows, the signs of Williams syndrome become even more pronounced. Against the background of weakness of the muscular corset, the shoulder girdle droops. The back of such children is more rounded, the chest is sunken. The shape of the legs is changing, many have flat feet.

Signs of the “elf face” gradually become less noticeable, but an unusually large distance between the base of the nose and the upper lip catches the eye. The bridge of the nose ceases to be so flat, facial features take on a more adult look, but massive brow ridges are formed.

Neurological changes

Children with Williams syndrome have a specific appearance, as well as a characteristic feature is a general delay in mental development, with the development of certain areas of intelligence.

Depending on the severity of the mutation, developmental abnormalities may be minor. Speech abilities are most often at a high level, the child is able to master a good vocabulary. Children are open to communication, with proper training they can learn to read and write well.

The problems faced by children with Williams syndrome and their parents include the lack of organizational skills. Sometimes a child may suffer from obsessive repetitive actions, unjustified fears. A small percentage of patients experience enuresis.

Regardless of the severity of the syndrome, children have an excellent ear for music in the complete absence of mathematical abilities. The main character traits are good nature, obedience. Children are usually very friendly, their emotional coloring never becomes negative. They actively make contact, are capable of partial social adaptation. If the violations are quite pronounced, it is worth using auxiliary educational institutions.

Diagnostic measures

It is often possible to suspect Williams syndrome by external signs (“elf face”), by the nature of the development of the child emotionally and physically, especially in mental development, with a general delay in which some areas of the intellect are developed. But in order to make a diagnosis and obtain an official medical opinion, it is necessary to undergo a series of procedures.

To confirm Williams disease, the following procedures are performed:

  • a biochemical blood test to detect elevated calcium levels;
  • electrocardiogram for diagnosing valve insufficiency, stenosis;
  • molecular genetic analysis.

It is the molecular genetic study that allows you to accurately determine what caused the violations in the state of health of the child. Such an analysis involves the use of a special DNA microchip that detects abnormalities in the formation of the 7th chromosome. As a result, the absence of its site becomes apparent.

Can Williams syndrome be treated?

Since Williams disease is a genetic pathology, it cannot be treated. The goal of any therapy with such a diagnosis is to maximize the patient’s quality of life, to create the necessary conditions.

Surgery may be required if the baby was born with severe disabilities. More often, doctors have to perform operations to correct heart defects. Such interventions are most effective in infancy.

Features of teaching children with the syndrome

Williams syndrome treatment training

Although intellectual abilities may be reduced, the level of mental development of the child depends largely on the efforts of the parents. When the right educational measures, psycho-correctional work are carried out, children master communication skills well. The risk of backwardness is reduced.

Although children with Williams syndrome learn worse than their peers and require an individual approach, they are able to absorb educational material. The humanities, writing, reading, music are best suited to them.

In order for the child to develop better, it is important to create a favorable atmosphere in the family. At home, friendliness and warmth should reign. To facilitate social adaptation, it is necessary to undergo a course of psychotherapy.

The prognosis of life in people with Williams syndrome is favorable. Although patients live less against the background of concomitant diseases, with timely treatment of these pathologies, one can live with such a diagnosis until old age. The disease is detected more often soon after birth, requires proper psychological correction and medical supervision. If necessary, surgical and drug therapy is used, a sick person is provided with comfortable living conditions.

Video

Read the next article: Sudden Infant Death Syndrome

Photo: © Depositphotos