Prader-Willi Syndrome - Causes, Symptoms And Treatment

2024 Author: Josephine Shorter | [email protected]. Last modified: 2023-12-16 21:43

Prader-Willi syndrome

Content:

• Symptoms of the Prader-Willi syndrome
• Causes of the Prader-Willi syndrome
• Diagnostics of the Prader-Willi syndrome
• Treatment of Prader-Willi syndrome

Prader-Willi syndrome is a genetic disorder that is extremely rare. Its development is due to the fact that seven genes, or their parts, located on the 15th paternal chromosome are absent, or cannot function normally. The syndrome was described in 1956 by scientists A. Prader, G. Willie, A. Labhart, E. Ziegler and G. Fanconi.

According to statistics, the syndrome is detected in 1 out of 10-25 thousand newborns. The manifestation of pathology is influenced by the paternal genetic material, since the disturbed part of chromosome 15 is subject to the phenomenon of imprinting. That is, a copy of only one gene among the genes of a given region will work in full.

Symptoms of the Prader-Willi syndrome

The following symptoms of Prader-Willi syndrome allow the patient to be diagnosed correctly, even if they are not manifested in full:

• During intrauterine development, the motor activity of the fetus is reduced, women often suffer from polyhydramnios, and fetal presentation is found.
• At the time of birth, the baby is in breech presentation, lethargy and hypotension are observed. Weak muscle tone affects the sucking reflex, making it difficult to breastfeed. The child may have trouble breathing. The syndrome of hypogonadism is characteristic of this genetic disorder.
• In early childhood, a lag in physical development comes to the fore, intellectual problems are observed. The child gets tired quickly, prone to drowsiness. Strabismus often develops. It is for early childhood that scoliosis is characteristic, which is not diagnosed in infancy.

• For older children, speech disorders are characteristic, overweight is observed. At the age of 2 to 8 years, the child begins to show tendencies to overeating, physical coordination is disturbed, and sleep suffers. Scoliosis continues to progress.
• In puberty, adolescents often experience delayed puberty, the growth of such children is lower than their peers. Flexibility is abnormally high, body weight is above normal.
• By the age of 18, people with Prader-Willi syndrome suffer from the inability to conceive because they are infertile. The hair on the intimate area is thin, hypogonadism continues to progress. Obesity, low blood pressure, intellectual problems, learning difficulties are all symptoms caused by existing genetic disorders. In addition, in the period of adulthood, a person may already be diagnosed with diabetes mellitus, provoked by the existing genetic pathology.

• Adults with Prader-Willi's symptom have the following external characteristics: their nose is wide and large, their forehead is high, the eyelids are drooping, the eyes are almond-shaped, the upper and lower limbs are small, the fingers on them are narrow, the body weight is overweight. Compared to other close relatives, the hair and skin of a sick family member are somewhat lighter. The sexual and motor development of a person is impaired, striae form on the skin, there is a tendency to dermatillomania (plucking out of skin areas).

Neuro-cognitive impairment

In 1992, Kurf and Freem investigated the level of intelligence in people with Prader-Willi syndrome. It was found that most of the patients (39%) have minor mental retardation, 27% of patients had moderate mental retardation, or were on the border of intellectual activity, giving an intelligence level in the range from 70 to 85. With a low average intelligence level, 5 % of people, and with severe mental retardation 1%. Moreover, profound mental retardation was observed in less than 1% of cases.

It was found that in childhood patients have the ability to read, they have an extensive vocabulary. However, speech disorders reduce their understanding. With difficulty such people are given mathematics and writing, concentration of attention, visual and short-term memory suffer. Therefore, even despite the level of development of intelligence, problems in these areas do not disappear with age.

Behavioral disorders

• Increased appetite leads to the development of obesity.
• Compulsive behavior is expressed in an increased level of anxiety and dermatillomania.
• Disorders in mental development are manifested in depression, paranoia, hallucinations.

Often, it is behavioral disorders that lead to the hospitalization of patients.

Endocrine Disorders

In people with Prader-Willi syndrome, there is a lack of growth hormone in the body, which leads to the development of obesity, an increase in bone density.

Hypogonadism is the reason that the testes do not descend into the scrotum in men, and in women there is early sexual hair growth (adrenarche). However, both of these conditions can be corrected surgically and conservatively.

Causes of the Prader-Willi syndrome

The causes of Prader-Willi syndrome lie in genetic disorders. As a result of certain mutations, there is a loss of chromosome 15 of the paternal copy of the genes.

Another reason for chromosomal rearrangements, in addition to gene mutations, are:

• Inheritance of two pairs of chromosomes only from the mother (maternal uni-paternal disomy);
• Disorders resulting from a chromosome rupture or due to unequal crossing over (deletion);
• Disorders as a result of chromosomal translocations with the transfer of a chromosome section to a non-homologous chromosome.

At the same time, the risk that the second child in the family will be born with Prader-Willi syndrome depends on what caused the restructuring. Thus, uni-paternal dyssomnia and deletion reduce the risk to only 1%, chromosomal translocations increase it to 25%, and mutations against the background of imprinting up to 50%. Parenatal testing allows you to calculate all these options.

Diagnostics of the Prader-Willi syndrome

Timely diagnosis of Prader-Willi syndrome allows not only to identify the existing disorders, but also to start immediate treatment, which greatly improves the prognosis of the pathology development.

If earlier the diagnosis was made only on the basis of clinical signs, then modern medicine uses the method of genetic testing. It is imperative for all newborns with hypotension.

With regard to differential diagnosis, this genetic pathology must be distinguished from Down syndrome.

Treatment of Prader-Willi syndrome

There is no cure for getting rid of genetic disorders completely. However, drugs for the treatment of Prader-Willi syndrome, or rather for the relief of its symptoms, are under development.

Therefore, doctors recommend that all children with the detected Prader-Willi syndrome undergo physical therapy without fail, which is aimed at increasing muscle tone. The learning process must also be adapted to the intellectual capabilities of the child.

Obesity remains a big problem, so these children are advised to inject recombinant growth hormone every day. This allows you to control your appetite, and also gives you the opportunity to support the increase in muscle mass rather than adipose tissue.

To rule out obstructive sleep apnea, patients are advised on an ongoing basis to use a ventilator.

Article author: Mochalov Pavel Alexandrovich | d. m. n. therapist

Education: Moscow Medical Institute. IM Sechenov, specialty - "General Medicine" in 1991, in 1993 "Occupational Diseases", in 1996 "Therapy".