Genetic defects

Genetic defects arise when random changes occur in a person's genetic material (DNA or genome). It is their type that determines the type of disease. At Paley European Institute, we treat and provide physiotherapy for people with:

1. Down syndrome,
2. West syndrome,
3. Tourettes Syndrome,
4. Rett syndrome.

West syndrome

West syndrome is a form of epileptic encephalopathy, a disorder resulting from damage to the brain. It is diagnosed in 1-1.6 per 100,000 live births, with a higher incidence in boys. Special changes, called hypsarrhythmia, appear in the EEG recordings of people with West syndrome between 3 and 9 months of age (the exception is a mild form of West syndrome). The main symptoms of the disorder include flexion epileptic seizures, which become apparent around age 4, and psychomotor developmental delay. Mental disability and cognitive impairment of various degrees are also frequently observed. The prognosis is generally inauspicious, and evolution to Lennox-Gastaut syndrome or other types of epilepsy, often difficult to treat, is often observed. In patients with West syndrome, premature death occurs in 5-31%.

The diagnosis of West Syndrome should prompt doctors and parents to look for the cause of the symptoms present. Among them can be distinguished:

1. Prenatal factors - mutations of genetic material, disorders of brain development,
2. Cerebral hypoxia and ischemia, causing encephalopathy, metabolic diseases and infections,
3. Perinatal - hypoglycemia, perinatal hypoxia,
   postnatal - infections of the nervous system, CNS tumors, brain injuries, cerebral ischemia,
4. Idiopathic - of unknown cause.

To prevent the development of severe complications, well-chosen treatment that addresses the cause of the disease should be instituted as soon as possible. The therapeutic goal is to control flexion seizures. Pharmacotherapy, and sometimes a ketogenic diet, vagus nerve stimulation, hormonal treatment and surgical treatment, which involves the destruction of epileptic foci in the brain, are used. This is complemented by physiotherapy, carried out using methods such as Bobath, Vojta and Petö, as well as psychological support. The overriding goal of treatment is to improve quality of life.

Tourettes syndrome

Tourette syndrome is a congenital neurological disorder characterized primarily by the occurrence of multiple motor and vocal tics. Tics refer to involuntary sudden, rapid, recurrent, non-rhythmic, stereotyped movements or vocalizations. Their mild form includes:

1. blinking eyes,
2. shoulder and head movements,
3. grimaces,
4. grunt,
5. milling.

In the more severe form, it is virtually impossible to lead a normal life. Since the tics are complex, the environment often interprets them as a manifestation of aggression. Sufferers are aware of the tics they perform, but are unable to control them. Attempting to suppress them involves great effort and causes severe physical and mental tension. Tics intensify under the influence of:

1. stress,
2. emotional arousal,
3. fatigue,
4. fatigue,
5. Certain substances, such as alcohol or caffeine.

Factors that reduce their severity include:

1. Sen,
2. activities that require concentration,
3. Activities that require motor coordination (riding a bicycle, playing a musical instrument),
4. physical exertion.

Tourette syndrome is diagnosed in 4.3/10,000 people, with males more commonly affected. It is inherited in an autosomal dominant manner, but to date it has not been possible to determine the site of the genetic changes underlying the disease. Abnormal metabolism of neurotransmitters in the brain, primarily dopamine and serotonin, is also likely to contribute to the development of Tourette syndrome.

Tourette syndrome is usually contracted for the rest of one's life, although brief periods of remission sometimes occur. Since the etiopathogenesis of the disease has not been precisely established, causal treatment cannot be implemented. Initially, symptomatic treatment is used to alleviate the effects of the disease and improve the patient's intellectual, emotional and social functioning. Treatment of the mild form of Tourette syndrome is generally limited to behavioral therapy and pharmacotherapy. In severe forms, when pharmacotherapy becomes ineffective or causes numerous side effects, surgical treatment is introduced.

Rett syndrome

Rett syndrome (RTT) is a genetically determined neurological developmental disorder. It appears under the influence of mutations in the MECP2 gene, which is located on one of the sex chromosomes in the XX transcript. That is why Rett syndrome affects almost exclusively girls. For most males, such a mutation is a lethal defect and leads to death at the stage of fetal development or severe neonatal encephalopathy with fatal descent before the age of 2. Detection of the mutation does not equate to a diagnosis of RTT. The final diagnosis is determined by concordance with the clinical picture. It occurs in girls with a frequency of 1:10000 to 1:23000 live births.

Characteristic features of Rett syndrome include:

1. Stereotypic hand movements - repetitive, involuntary, symmetrical movements performed in the midline;
2. Ataxia - otherwise known as motor ataxia, a disorder characterized by reduced coordination of movements and trouble maintaining balance, caused by damage to certain structures of the nervous system;
3. Hyperammonemia - an increased concentration of ammonia in the blood serum above an acceptable level;
4. general blunting of affect - a profound reduction in the intensity of emotional expression or lack thereof. Patients with affective blunting do not modulate their behavior, facial expressions, gestures according to the acting stimuli. They remain monotonous, and the person talking to the patient is unable to "read" his emotions;
5. Lower limb atrophy - muscle atrophy of the lower limbs;
6. symptoms characteristic of childhood autism - problems in communication and understanding of social phenomena.

A child with Rett syndrome develops normally until 6-18 mo of age. After that, the development of the disorder begins, at which point it loses the skills it acquired earlier, and further development is hindered or stunted. Rett syndrome has a phase course, and its symptoms in phase II may be confused with those of autism.

Phase I - from about 6 to about 18 months of age

The changes that occur then are subtle, so they may go unnoticed, for example: the child becomes excessively quiet and taciturn, plays less, eye contact deteriorates, head circumference growth slows down.

Phase II - from about 1 year to about 3-4 years.

There is a sudden or gradual (lasting several weeks or months) regression in development. Previously acquired skills are lost, such as: purposeful hand movements, speaking and walking. Instead, they appear:

1. Stereotypical hand movements: touching the head, face, wringing the hands, movements resembling hand washing or washing, patting or clapping,
2. Respiratory disorders: hyperventilation, swallowing air, apnea,
3. sleep disorders,
4. fits of crying or laughing for no apparent reason,
5. deterioration of social skills and communication,
6. Deterioration of motor skills and motor coordination.

Phase III - preschool and school age

This is a phase of stabilization in which the child begins to communicate better, shows more interest in interacting with people, and his emotional vacillation decreases. However, there are still difficulties related to movement. Epilepsy may also occur.

Phase IV - from about 15 years of age

Motor skills deteriorate, there is a risk of scoliosis and most sufferers stop walking and adopt unnatural body positions. Comprehension, social skills, communication, hand manipulation skills remain at the same level or there is a slight improvement. The severity of epilepsy symptoms may decrease.

In addition to the symptoms mentioned above, osteoporosis, bruxism, underweight, constipation, apraxia, cardiovascular problems and many others may co-occur.

Currently, there is no proven causal treatment. Physiotherapy is used for physical symptoms, and patients are provided with orthotic supplies to facilitate daily functioning and provide relief. Patients should also be provided with education tailored to their abilities, speech therapy, nutritional support and psychological support, including appropriately tailored therapy. This enables them to learn proper communication, which is key to proper social, mental, emotional and intellectual development. In addition, treatment, including pharmacological treatment, of comorbidities is introduced.

Down syndrome

Down syndrome is a syndrome of birth defects caused by trisomy of the 21st pair of chromosomes. This means that an extra third chromosome or a fragment thereof is present at the 21st pair. It occurs with a frequency varying from 1:800 to 1:1,000 live births.

People with Down syndrome have primary immunodeficiency, reduced cognitive abilities, and mild to moderate intellectual disabilities. Their thinking is narrowed and often naive. People with mild intellectual disability need only a little help from a caregiver in daily life. In the case of severe intellectual disability, constant care and assistance is needed for even the simplest activities, such as dressing and washing.

Other symptoms include, but are not limited to (although they can also be found in healthy individuals):

1. A single palm furrow,
2. Almond-shaped eyes with a crease above the eyelid,
3. limb shortening,
4. weakening of muscle tone,
5. protruding tongue,
6. flat face profile,
7. Underdevelopment or underdevelopment of the frontal sinuses,
8. visual disturbances,
9. hearing disorders,
10. A short neck, less often a flippant neck,
11. pelvic hypoplasia,
12. genitourinary defects,
13. Skeletal defects, including: lever-rotator instability or excessive occipitofemoral mobility.

In addition, people with trisomy 21 chromosome have a higher risk of severe pneumonia and congenital heart defects.

Physical factors that increase the risk of Down syndrome are not known. However, a link has been detected between the age of the mother and the likelihood of giving birth to a child with trisomy 21 of a pair of chromosomes. Women in their 30s have almost twice the risk of having a child with Down syndrome compared to women in their 20s, and women in their 40s have as much as 10 times the risk of having a child with Down syndrome. This does not mean, however, that young mothers have no chance of giving birth to ailing offspring. Also, a higher age of the father is positively correlated with the risk of Down syndrome in a child.

Down syndrome is possible to detect even in the prenatal period. A routine ultrasound, performed after the 14th week of pregnancy, can show the characteristic ultrasound features of the disease. Other screening tests that can indicate Down syndrome include tests that measure marker levels in the mother's blood and urine. However, they do not detect all fetal developmental abnormalities, and can produce false-negative and false-positive results.

Suspicion of trisomy 21 of a pair of chromosomes is confirmed by performing a chorionic villus biopsy (CVS) in the first trimester and an amniocentesis (collection of amniotic fluid with a needle) in the second trimester. These are invasive fetal karyotype tests that are associated with an increased risk of pregnancy complications, including miscarriage.

Down syndrome is an incurable disease. The therapeutic process may include surgical treatment for heart defects and other body abnormalities. In addition, proper physiotherapy and regular check-ups are very important due to the increased risk of other conditions (e.g., hearing and vision disorders). Proper medical care, acceptance and involvement of the family, appropriate education and vocational training can increase the ultimate development and improve the quality of life of people with Down syndrome.

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