Children with Angelman syndrome

Update: December 2018

Angelman syndrome – a disease that has a genetic nature,
which manifests itself in early childhood signs
intellectual and physical delays as well
sleep disturbances, causeless smiles or laughter, cramps and
sharp uncoordinated movements (especially hands).
Visually sick with Angelman syndrome always look.
optimistic, happy and good-natured.

The syndrome is named after the doctor’s first name
described (Harry Angelman) in the middle of the last century (1965).
This disease is sometimes called the old name – syndrome
happy puppets, however, this term in modern medicine
practically not used.

Etiology of the disease

Angelman syndrome occurs infrequently – approximately 1 case per 10
– 20 thousand newborn babies. Main cause of pathology
is loss of chromosome 15 copies of normal maternal genes,
что происходит по причине нарушения деления данной chromosomes. Besides
In addition, the disease may occur due to paternal mutations.
genes, paternal disomy or trisomy.

Normally, a healthy person receives one from his mother and father
копии 15 chromosomes. If the child received from someone from the parents
genetically modified copy (especially from the mother, as she has
gene copies are stronger than the father), the child develops
Angelman syndrome.

Have кого может родится ребенок с синдромом Ангельмана?

Angelman syndrome occurs spontaneously and theoretically with it.
absolutely any child can be born. The risk of having a baby,
the patient with Angelman syndrome is great if someone from his
parents (described the case of the birth of a sick baby mother with
similar syndrome). If the family already had one child,
Angelman syndrome patient, this does not mean that the next baby
will also be sick, the risk of re-birth of a similar child
is only 1%. It should be noted that on Angelman syndrome
affects the presence of any chromosomal abnormalities in the parents.

Interesting facts: Angelman syndrome is sick Colin Farrell’s son,
– famous American actor. However, this feature is not at all
prevents the boy’s parents faithfully to love their child!

Symptoms of Angelman syndrome

The disease is characterized by a number of symptoms: Синдром Ангельмана

  • newborn babies are malnourished and underweight;
  • developmental delays (children start to sit late and
    walk);
  • there is a delay in speech development or in general
    underdevelopment;
  • violation of the expression of thoughts with a good understanding of them;
  • child hyperactivity (excessive mobility);
  • chaotic limb movements or small tremors;
  • concentration disorder; Children with Angelman syndrome
  • the child is difficult to learn;
  • epilepsy is common;
  • deformity of facial features is sometimes noted (rare teeth, too
    wide mouth, massive chin, pushed forward);
  • smile and laughter for no reason;
  • characteristic “puppet” gait on straight, not bending,
    feet;
  • head deformation (flattened back of the head);
  • presence of strabismus;
  • head has sizes significantly smaller than average;
  • sleep problems;
  • scoliosis;
  • hypersensitivity to elevated ambient temperature
    environment.

Some of the above symptoms of Angelman syndrome
observed in patients more often, and some less. So, almost all
children with Angelman syndrome suffer from: physical and
mental development, speech disorders, motility (movement,
balance, tremor of limbs), deviations in behavior (laughter and
smile for no reason), hyperexcitability, motor activity and
concentration disorder.

Somewhat less common is another group of symptoms: deformity
head convulsions. And, finally, quite rare
a group of symptoms such as: violation of sucking and swallowing,
uncontrolled movement of the tongue, squint, overly active
tendon reflexes, malnutrition, advancement of the lower
jaws, protruding, trembling tongue and other symptoms.

Sometimes with age, the symptoms of the disease may vary.
Almost all patients, reaching adulthood, retain
youthful appearance and look much younger than their
true age. They normally reach puberty, and
some even create families and have children. However, the risk of being born in
such families of a child suffering from a similar syndrome are sufficient
is high.

Adult patients with Angelman syndrome may suffer from incontinence.
urine and impaired fine motor skills. They bad button buttons,
buttons and zippers on clothes, so it’s better for them to choose clothes without
fasteners And, nevertheless, in everyday life many patients are pretty good.
master the simplest skills: brushing your teeth, using a spoon and
fork and others

Most adult patients with Angelman syndrome
have obesity (especially women) and severe scoliosis, which
quite actively progressing with age.

Children suffering from Angelman syndrome understand a lot, but few
they say Sometimes they don’t talk at all or they cost a lot
poor vocabulary stock, limited to a couple dozen words. Such
children are very friendly, they love people and other children willingly with
they play. They are very affectionate and loving. Syndrome patients
Angelman is desirable to teach sign language from an early age. For
There are special tutorials that they develop.
general and fine motor skills that helps children better adapt to
life in society.

Angelman syndrome treatment

This is a congenital anomaly that occurs at the chromosomal level,
therefore the specific drug treatment of angelman syndrome
does not exist. However, there are activities that facilitate and
improving the quality of life of such patients. So, kids suffering in
infancy hypotonia, massage and firming
physical procedures.

At an older age, when a child begins to form
speech, help enhanced lessons with a speech therapist, with their help children
master the skills of pronunciation and articulation of speech. If a child
there is a sleep disorder, he is prescribed sleeping pills. Successfully
seizures and seizures and epileptic seizures (shown
anticonvulsant drugs).

Patients with Angelman syndrome do not look flawed. Have them
happy appearance, great mood, they are sociable, love
games and get along well with children.

However, the establishment of a connection between healthy people and sick
Angelman syndrome is sometimes difficult, it is more
degree due to the fact that healthy people are not always adequate and
sincerely accept the attention of patients. For установки полноценного
Contact takes some time. Most often, communication is difficult.
due to impaired speech skills. However, this is successfully compensated
non-verbal communication.

Care for a child with Angelman syndrome and prognosis

The most common diagnosis is given to a child aged 3 to 7 years old, with
this signs of the disease are already pronounced. Have
It is difficult to diagnose newborns syndrome, this is due to
nonspecificity of its symptoms. In addition, the disease is considered
rare and not every specialist in the practice there are similar
cases. In European countries, information about Angelman syndrome
more, therefore, the detectability of pathology is at a higher
level than us

For того, чтобы точно установить диагноз больному ребенку,
Consultation is necessary genetics, which in addition to examining the child
prescribe a genetic analysis.

The prognosis of the disease depends on the degree of damage 15
chromosomes. So, it is noted that some people suffering from the syndrome
Angelman, perfectly serve themselves and even communicate (there is only
gene mutation), while others are not able to talk or even walk
(causal is a deletion of a fragment of the chromosome).

The life expectancy of such patients is average. The quality of life –
corresponding to the severity of the disease. Such больные нуждаются в
special attention and understanding of relatives and friends. Only they are capable
create an atmosphere of friendliness, love and
complete understanding. Sometimes these children are defined in
specialized schools and boarding schools where they pass special
course of study and adaptation to society.

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