Syndromes not associated with chromosomal abnormalities, noonan syndrome, pradero-vili, russell-silver, progeria syndrome. Russell-Silver syndrome: causes, symptoms, diagnosis, treatment How long do people live with Russell-Silver syndrome

Until now, an end has not been put in the study of a serious illness - Russell-Silver syndrome. But it is indisputable that the disease begins with intrauterine fetal growth retardation, disruption of the process of skeletal formation, and the closure of the large fontanel occurs only at a late stage.

Russell-Silver Syndrome in its name united the names of two pediatricians who were successfully practicing in the middle of the last century. Englishman Russell and American and Silver in their practice have met hundreds of cases of congenital anomalies. It was a distortion of body symmetry with a characteristic growth hypotrophy. And it was accompanied by premature, accelerated puberty. In 1953, Silver described these anomalies. A year later, Russell added information from his practice. He drew a parallel between short stature and increased urinary gonadotropin. It turns out that the hormone of the anterior pituitary gland or gonadotropin acts as a stimulus for the development of the gonads in both women and men.

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ICD-10 code

Q87.1 Congenital malformation syndromes predominantly dwarfed

Epidemiology

To date, more than 400 cases of this disease have been registered. The prevalence of this disease is a ratio of 1: 30,000. In this case, the type of inheritance has not been established, although only a few genealogies with Russell-Silver syndrome are known.

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Causes of Russell-Silver Syndrome

Risk factors

The danger of the disease is that there are practically no risk factors identified. And although in all economically developed countries thousands of research doctors are working in this direction, there is no talk of the final victory of the disease.

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Pathogenesis

The pathogenesis or the mechanism that provokes the onset and development of the disease is not fully understood. It is known that hypomethylation of H19 and IGF2 exists in the syndrome. In 10% of cases, the disease is associated with maternal disomy (UPD) on chromosome 7.

Symptoms of Russell-Silver Syndrome

The most striking and obvious manifestation or the first signs of the disease are noticeable in the smallest children. Symptoms of Russell-Silver syndrome can be seen in a newly born baby. This means that intrauterine development was delayed. Hence - the size and weight of the child does not correspond to the gestational age. And the pregnancy itself often took place at risk, with the threat of its termination at an early stage. The baby born has a small, triangular face that tapers noticeably downward. Frontal cusps are underlined. An enlarged skull is also noticeable. And the external genital organs are underdeveloped.

Babies often have difficulty breastfeeding. Retrospective studies by Marsaud et al. Found in children with Russell-Silver syndrome frequent problems with digestion and malnutrition. Children have: severe gastroesophageal reflux disease (55%), severe vomiting before the age of 1 year (50%), persistent vomiting at the age of 1 year (29%), and constipation (20%).

If immediately after birth there are no obvious signs of the disease, they appear later. The teeth, despite the late appearance, are affected by caries, scoliosis develops, the asymmetric growth of the sides of the body progresses. In this case, the stuntedness of the child is observed. And almost always there is early puberty - a girl with Russell-Silver syndrome has an early menstrual period. Boys show secondary sexual characteristics prematurely.

In addition, there are persistent problems with the esophagus and kidneys. Such children walk and run with difficulty, very insecure.

Diagnosing Russell-Silver Syndrome

Unfortunately, this disease is on a par with most hereditary ones. And if the diagnosis of Russell-Silver syndrome (genetic research) confirms the disease, you need to know that there is no specific treatment method yet.

Differential diagnosis

Russell-Silver syndrome must be differentiated from the following diseases:

1. fanconi syndrome;
2. nijmegen syndrome (a genetic disorder, as a result of which a child is born with a small head, short stature, etc.);
3. bloom's syndrome ( genetic disease, accompanied by short stature and an increased likelihood of developing cancer).

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Russell-Silver Syndrome Treatment

The only thing that can and should be done is to maximize the quality of life of such a patient and also bring the child's appearance to a normal state as much as possible. Then the appointment of growth hormone will be required. Hormonal agents are also needed to correct early puberty. In especially severe cases and for medical reasons, plastic is possible, i.e. plastic surgery. It is prescribed for roughly expressed external genitalia.

Often, a school-age child is transferred to home schooling. This is not caused by mental retardation, which practically does not accompany the disease, but in order to protect the child from unnecessary psychological trauma. Attending regular school, a child with Russell-Silver syndrome experiences discomfort, which negatively affects his general condition.

Unfortunately, modern medicine did not defeat this most complex and largely mysterious disease. But she also gives recommendations that are vital to follow: such children should be under the constant supervision of an endocrinologist, the timing and frequency of medical examinations are set for them.

Particular attention should be paid to growth hormones, which have already been mentioned above. So far, they are the most effective of the entire spectrum of genetically engineered medicines. They are used strictly according to the scheme determined by the doctor. The drugs can be either imported - Swedish Genotropin, French Humatrop, Saizen made in Italy, and domestic Rastan. The dosage is permissible only as determined by the doctor.

During treatment, its effectiveness is constantly monitored. It is considered successful if there is a clear increase in growth. There are cases when a child in a year of taking medications added in height from 8 to 13 cm. This is especially noticeable in the first six months. Then, in the second year of taking hormones, growth slows down somewhat. But the child will become taller by 5-6 cm.

Prevention

Russell-Silver Syndrome is in no hurry to reveal its secret. If we compare, for example, TBZ and this disease, then with all the seriousness of the former, it can be avoided. Today, all newborns are vaccinated, and then the child is given mantu. Thus, tuberculosis, or rather, the likelihood of contracting it, is under constant control. But so far, things are not so with Russell-Silver syndrome, as, indeed, with other genetic diseases. Therefore, future parents need to check their health before conceiving a child. And if there are no contraindications, a pregnant woman must strictly observe the regime of not only behavior and nutrition, but also the psychological state. Many obstetricians and endocrinologists warn the expectant mother against a viral disease. They are convinced that flu in the first trimester is dangerous for the normal development of the fetus. But the rest of the period should also pass without colds and other diseases.

If on the part of the husband or wife there were cases of the birth of children with genetic abnormalities, then the parents themselves should show increased attention, first of all. And be sure to inform the gynecologist who is observing the pregnant woman about this.

Forecast

Parents of children with Russell-Silver syndrome keep asking themselves and the doctors the question: what is the prognosis of treatment? Will the result be favorable? Not a single doctor will give an unequivocal answer: although statistics are constantly changing, no one will undertake to assert that treatment will save a child from this disease. But there is another answer, supported by real numbers: both the state of health and the appearance of the patient who is diagnosed with Russell-Silver syndrome is radically changing for the better. And this is only on condition that the parents themselves confronted the disease in tandem with an experienced endocrinologist and other specialists.

Russell-Silver Syndrome (RSS), sometimes called Silver-Russell Syndrome (SRS), is a congenital condition. It is characterized by frequent growth and asymmetry of the limbs or face. Symptoms range in a wide clinical spectrum from severe to so mild as to go unnoticed.

The disorder is caused by very rare genetic defects. The number of cases in the global population is estimated to range from 1 to 3,000 and 1 in 100,000.

In addition, diagnosis can be difficult because many doctors may not be familiar with the disorder. Healthcare professionals can help diagnose the condition and decide on a treatment plan.

Treatment focuses on managing RSS symptoms. As patients get older, many symptoms will improve. People with RSS who are planning to have children should consult with a genetic counselor in advance. The chances of passing the condition are low, but should be considered.

Symptoms Symptoms of Russell-Silver Syndrome

There are many symptoms of Russell-Silver syndrome. Most of them are present at birth, while others appear in early childhood. Most people with RSS have normal intelligence, but they may experience delays in reaching early stages of development.

The main criteria for RSS are:

• intrauterine growth retardation / short stature at birth (below the 10th percentile)
• postpartum height below average in length or height (below the 3rd percentile)
• normal head circumference (between the 3rd and 97th percentile)
• limb, body or facial asymmetry

Minor symptoms include:

• short arm shoulder, but normal upper to lower shoulder ratio
• with clindodactyl of the fifth toe (when the little fingers are bent towards the fourth toes)
• face with a triangular shape
• prominent forehead

Other symptoms that you may experience with RSS include:

• changes in skin pigment
• hypoglycemia (low blood sugar)
• feeding difficulties (in infants)
• gastrointestinal disorders ( acute diarrhea, acid reflux disease, etc.)
• motor, speech and / or cognitive delay

Rare cases have been associated with:

• heart defects (congenital heart defects, pericarditis, etc.)
• underlying malignant conditions (eg, Wilms tumor)

Causes of the causes of Russell-Silver syndrome

Most people who have RSS do not have a family history of the disease.

About 60 percent of RSS cases are caused by defects in a particular chromosome. About 7-10 percent of RSS cases are caused by maternal unipartial dyssomy (UPD) on chromosome 7, in which the child receives both chromosome 7 from the mother and one chromosome 7 from each parent.

However, for most people who have RSS, the underlying genetic defect is undefined.

Diagnostics Diagnosis of Russell-Silver Syndrome

Your doctor may need to consult with several specialists to make a diagnosis. The signs and symptoms of RSS are most noticeable in infancy and early childhood, making diagnosis even more difficult in older children. Ask your doctor to see a specialist for a more in-depth analysis of your condition.

Medical professionals with whom you and your doctor can consult include:

• geneticist
• gastroenterologist
• nutritionist
• endocrinologist

RSS can be misdiagnosed as:

• Fanconi anemia syndrome (a genetic defect in DNA repair known to cause cancer)
• Nijumegen lesion syndrome (genetic disorder causing a small head, short stature, etc.)
• Bloom Syndrome (a genetic disorder that causes short stature and an increased likelihood of cancer)

RSS is present at birth. The first few years of life are very important for a child's development. Treatment for RSS focuses on treating its symptoms so the child can develop as often as possible.

Treatments to aid growth and development include:

a meal schedule with specified snacks and meal times

• growth hormone injections
• luteinizing hormone drugs (a hormone released in women for monthly ovulation)
• shoe lifts (inserts used to slightly raise one heel)

corrective surgery

• Treatment that promotes mental and social development includes:
• speech therapy

physical therapy

• language therapy
• early development programs
• OutlookOutlook for people with Russell-Silver syndrome
• Children with RSS should be monitored and tested regularly. This can help ensure that they reach milestones. Most people with RSS will see their symptoms improve as they enter adulthood.

RSS symptoms that should improve with age include:

difficulty speaking

low weight

• short stature
• Development monitoring tests include:
• blood glucose test for hypoglycemia

growth rate (used to monitor a child's growth during childhood)

• limb length measurement for asymmetry
• Genetic counseling Genetic counseling
• RSS is a genetic disorder and a person with RSS rarely passes it on to their children. Individuals with this disorder should consider visiting a genetic counselor. The counselor can explain that your child can develop RSS.

J. Blissett, PhD, Lecturer in Psychology; G. Harris, PhD, Senior Lecturer in Psychology, University of Birmingham; J. Kirk, MD MRCP, Consultant Paediatric Endocrinologist, Birmingham Children’s Hospital, Birmingham, UK

To determine the prevalence and severity of eating disorders in children with Silver Russell Syndrome (CCP), a study was conducted using the Eating Function Questionnaire (Harris and Boot, 1992).

The study involved 32 children with CVR and 32 control groups aged 2 to 11 years. Each group consisted of 19 boys and 13 girls. During the meal, video surveillance of the relationship between parents and children during the meal was carried out. In addition, food intake was assessed over 3 days using a food weight diary. Children with CVD showed more problems with food intake than children in the control group. The main eating disorders in children with CVD were decreased appetite, anxiety, slow eating rates, and symptoms associated with oral-motor disorders. Despite the existing disorders, there was no pronounced deficit in consumed kilocalories, proteins, fats and carbohydrates. The relationship between parents and children in the CCP group during meals was significantly worse than in the control group. The observation was aimed at eliminating, if possible, negative moments in the relationship between parents and children in the process of eating and to reassure parents about the ability of their children to eat, as well as about the body weight and growth process of children.

Silver-Russell syndrome is known to cause intrauterine growth retardation (IGR) regardless of race (Patton, 1988). Children with CVD have low birth weight and thin limbs, and also lag behind their peers in development. They often have episodes of hypoglycemia with excessive sweating (Patton, 1988). However, due to the variability of phenotypes, symptoms may differ in patients with CVR. Lai et al. (1994), the diagnosis of CVD was made in the presence of three of the following symptoms: low birth weight, hypostatura, characteristic facial stigmas, clinodactyly, and asymmetry. Price et al. (1999), discussing the symptoms of CVD, came to the conclusion that IAD, small head circumference, thinness, hypostatura, facial dysmorphia, clinodactyly, light coffee spots on the skin, asymmetry are typical for this pathology. Additionally, there may be camptodactyly, symptoms of hypoglycemia, changes in the structure of the genital organs requiring surgery, difficulty in eating function, developmental disorders, in which there is a need for schooling according to a special program. Price et al. (1999) indicated that for a more convenient study of this pathology in groups of patients, subgroups should be defined. The diagnostic criteria that were used by most researchers made it possible to expand the concept of CVR and identify differences in CVR by phenotypes - from mild to significant, but the diagnostic group must certainly be homogeneous. Inconsistency with the criterion of homogeneity did not interfere with the study of such children, especially since the data obtained determine a number of specific problems among the many difficulties that are difficult to describe.

In a study by Lai et al. (1994) studied cognitive disorders in CVD. The existing difficulties with food intake (in 20 children out of 25) and speech disorders were considered precisely as manifestations of cognitive disorders. However, the researchers did not exclude the possibility that oral-motor disorders (OMD) were the root cause of speech and eating disorders in some children.

OMN is a violation of chewing food, moving it in the mouth, moving the tongue, closing the jaws and lips, as a result of which the formation of a food lump, the ability to retain food and fluid in the oral cavity are disturbed (Reilly et al., 2000). Children with eating disorders associated with OMD have difficulty chewing or find it difficult to cope with an unusual structure. Children with OMD tend to eat slowly, which is a concern for parents (Reilly and Skuse, 1992). In addition to the complications caused by organic problems such as DME, eating difficulties cause parental concerns about nutrition. At the same time, they begin to persuade or force children to eat. In the presence of poor appetite (Skuse, 1993), these persuasion or force-feeding makes the child's eating experience unpleasant (Harris and Booth, 1992). These situations exacerbate the already existing dysfunctions of food intake, which can develop, without outside interference, into a really serious problem. However, children who have had similar negative situations in the past associated with eating an unusual structure (for example, choking) learn to avoid them, refusing to eat rough or uneven food consistency (Skuse, 1993). This leads to a narrowing of the range of consumed products.

It has been shown that SMI is a major impetus for the development of eating disorders in children with growth problems, in particular with Turner syndrome (Mathisen et al., 1992).

Kotilainen et al. (1995) revealed craniofacial and dental anomalies in children with CVR who took part in the study, as well as articulation disorders compared with the control group. This confirms the hypothesis that OMN is a component of eating disorders in children with CVD. However, despite cases from the practice of clinicians (Harris, 1997) and testimonies of parents about problems associated with difficulties in eating and associated with CVD, there is no documentary evidence regarding the nature and severity of eating disorders in children of this group.

Children with CVD, according to parents, often had poor appetite compared to peers or relatives. The researchers explained this by the fact that there is a relationship between the degree of development of the child's body and appetite (Harris and Booth, 1992). The amount of calories the body requires depends on its energy expenditure. If a child develops slowly, then his energy consumption is low. In addition, there is every reason to believe that the poor appetite observed by parents in children is more related to the actual food intake process than to the amount of food consumed (MacDonald et al., 1997). Thommessen et al. (1991) argue that apparent eating problems in children with a variety of disabilities probably do not affect total food intake. However, experience has shown that parents' perceptions of their child's poor appetite can heighten their anxiety about the child's poor eating habits and growing poorly (Harris and MacDonald, 1992) and lead to coaxing or force-feeding tactics by the parent.

Eating behavioral disorders in children are caused by the parents' inability to control when the child is satiated and causing the child to overeat (Harris and Booth, 1992). When it comes to controlling satiety, parents do not trust their children, which is why parents tend to ignore the satiety signs, especially if they are concerned about weight, height, or health (Birch and Deysher, 1986; Shea et al. 1992; Birch et al. 1993). As a result, the combination of OMN, insufficient appetite, and parental anxiety about the nutrition of their children determines the possibility of developing eating disorders.

The purpose this study was to determine the severity of dysfunctions of food intake in children with CVD in comparison with normally developing children. We studied the presence and severity of AMN in children with CVR, the severity of the ability to eat depending on the existing disorders and the relationship between the child and the parents during meals.

Methods

Study participants

The study involved children aged 2 to 11 years with a history of IAD and symptoms characteristic of CVD, who were examined at the Birmingham Child Development Clinic and the London Child Development Fund. Children with unspecified diagnosis and children with comorbidities were excluded endocrine system, epilepsy, brain damage, chromosomal disorders, cleft palate and long hospitalization. Initially, 38 children with CVR were selected to participate in the study, but 6 children did not have age and gender pairs in the control group, so only 32 people were left. According to the data provided by the pediatrician and endocrinologist, all study participants had a history of IUR and symptoms characteristic of CVD, in particular short stature, asymmetry of the limbs, clinodactyly and specific facial features.

The control group was formed from children studying in the surrounding schools. The socio-economic status of the families where the children lived was different. 82 parents, whose children had no growth disorders, gave their consent to participate; out of 82, 32 children were selected, corresponding in parameters to children with CVD. Children of both groups were matched by sex and age (± 4 months).

Indicators

Eating Function Assessment Questionnaire

The Eating Function Assessment Questionnaire (FATF; Harris and Booth, 1992) has been used successfully in the study of eating disorders in patients with cystic fibrosis (Harris and MacDonald, 1992) and in studies by Whitehouse and Harris (1998). It evaluates the child's eating behavior based on age. So, for example, if a 2-year-old child needs outside help while eating, then this is not a pathology. But if a child of 10 years old needs outside help while eating, this is already regarded as a deviation from the age norm.

There are four main points of FOFT:

The number of deviations from the norm detected when eating. This provision reflects the number of problems a child experiences while eating, as reported by parents.

Negative aspects of the eating process. In general, this position reflects how problematic the very process of eating is both for the child himself and for his parents. It reflects the tactics that parents use when their child eats: persuasion, distraction, force feeding, as well as the parents' understanding of how difficult it is for the child to eat and how poor his appetite is.

Refusal to eat. This position reflects how often the child behaves badly while eating, which is expressed in vomiting, refusal to eat or spitting out food, holding it in the mouth.

Anxiety while eating. This section includes questions about neophobia and eating habits by age, as well as what parental preferences a child should avoid in their diet.

This questionnaire assesses various physiological problems that contribute to the development of dysfunction of food intake: the presence of oral-motor disorders, persistent or restrictive, disorders eating behavior (poor appetite, eating only certain types of foods, irregular eating habits), hyperphagia. All details of such individual problems are recorded in detail.

They talk about the presence of OMD if the parents indicate that the child cannot chew food or it is difficult for him to eat heterogeneous food: the child suffocates or spits it out.

Anthropometry

When determining body weight and height, children had to take off their shoes; they did not need to take off their clothes. Subcutaneous fat was measured using two standard methods: skinfold thickness and bioelectrical impedance analysis (BIA). Body mass index (BMI) was calculated using a formula based on body weight and height in all children participating in the study. The amount of subcutaneous fat along the thickness of the skin fold was determined in 48 children, and with the use of BIA - in 36.

Food diary

A food diary for all children in the study was kept at the same time of year to avoid seasonal differences in diet. The food diary was kept for 3 days. The diary was created from the diary used in the nutritional department of Birmingham Children's Hospital. For 3 days in a row, parents had to weigh all the foods that the child ate and drank, and write this data in a diary. It was emphasized that the data on the amount of food consumed by the child, and not on the one offered, should be recorded. Instructions for its correct filling were placed on the title page of the diary. Nutritional analysis of the foods that the children ate (according to the food diary data) were carried out using the Microdiet computer program (University of Salford, UK) after the completion of the diary.

We analyzed the data of food diaries of 12 children with CVR and 12 children from the control group (n \u003d 24), among them 20 boys and 4 girls.

CCTV

Video surveillance was carried out in both groups in order to further analyze the relationship between the child and the parents during meals, and not the DMO itself. The video was recorded daily during main meals (usually in the evening). The camera was installed in an inconspicuous place, the parents stayed with the child for a meal in the absence of the researcher. In those cases when the researcher still needed to stay, he did not interfere with the child's communication with the parents. However, video surveillance often influenced the behavior of children and their parents. Parents noted that the behavior of children in the days when the video was recorded changed for the better. The results of video surveillance of the behavior of parents and children were analyzed using the Observer computer system (version 3.0; information technology Noldus, Netherlands). The following indicators were identified and analyzed: total duration of mealtime; the frequency of cases when parents were upset if the child refused to eat the offered food, spit out the food they did not like, got up from the table, or was capricious if he did not like the food; the number of cases of positive and negative feedback from the child during a meal; the number of cases when parents praised, persuaded or criticized the child; the total number of positive and negative responses from parents.

These indicators were analyzed in 11 children with CVR and 11 children in the control group (n \u003d 22), including 14 boys and 8 girls.

Statistical analysis

For statistical analysis of the above data, independent t-tests were used. The x² tests were used to analyze the data by category.

results

As expected, children in the control group had height (t \u003d 3.249; df \u003d 61; p< 0,002) и масса тела (t = 4,653; df = 61; p < 0,0001) были значительно больше, чем у детей с ССР. Дети из контрольной группы рождались с большей массой тела (t = 7,780; df = 61; p < 0,0001).

Using the BIA method and using the Obesity Scale, it was revealed that children with CVD have less adipose tissue than children in the control group. The same is true for BMI. It is assumed that growth hormone preparation, which was taken by 50% of children with CVD, could contribute to the decrease in the amount of adipose tissue.

Results obtained in the analysis of the FOFT

Children with CVD showed significantly more negative aspects of dysfunction of food intake, apart from physiological disorders that could also affect nutrition. Children with CVD had more cases of oral-motor disorders and more cases of forced and irregular feeding. More than 90% of parents whose children suffer from CVD indicated the presence of certain problems with food intake in their children, while in the control group only 25% of parents indicated this.

In general, children with CVD had more eating disorders than children in the control group (p< 0,0001). Кроме того, у детей с ССР чаще отмечались негативные проявления во время еды (p < 0,0001), поведенческие расстройства (p < 0,038).

To determine the differences in the state of younger and older children, all subjects were divided into 2 groups: children under 6 years of age and older. The differences between these groups were insignificant, within the physiological norms, with the exception that constipation was significantly more frequent among children with CVR under 6 years of age compared with peers in the control group (p< 0,038). Согласно данным ВОФПП, полученным от родителей, у детей младше 6 лет в группе ССР чаще встречались орально-моторные нарушения, чем у детей того же возраста контрольной группы. Дети младше 6 лет, страдающие ССР, ели более медленно (p < 0,0001) и предпочитали принимать пищу жидкой консистенции (p < 0,002). У детей с ССР старше 6 лет было меньше отличий с контрольной группой. У них отмечались только медленный темп еды (p < 0,002), затруднения употребления сухой (p < 0,01) и неоднородной пищи (p < 0,0001). Однако у всех детей с ССР было больше случаев, когда их приходилось уговаривать или заставлять принимать пищу, по сравнению с детьми из контрольной группы. Родители чаще указывали на плохой аппетит у детей с ССР (в группе детей младше 6 лет p < 0,0001; в группе старше 6 лет p < 0,044).

Children under 6 years of age with CVD showed more difficulty with food intake (p< 0,0001), больше случаев беспокойного поведения во время еды (p < 0,0001), отказа от приема пищи (p < 0,012) и нервного возбуждения во время еды (p < 0,001), чем в контрольной группе. При анализе результатов, полученных в группе детей старше 6 лет, у детей, болеющих ССР, случаев отказа от приема пищи и нервного возбуждения во время еды было не больше, чем в контрольной группе. Случаев затруднений, связанных с приемом пищи (p < 0,0005), и случаев беспокойного поведения во время еды (p < 0,046) было больше.

Food Diary Data Analysis Results

Despite the existing difficulties associated with the food intake process, the amount of calories, proteins, fats and carbohydrates consumed in children with CVD did not differ too much from those in the control group. At the same time, children with CVD were smaller in build than their peers from the control group. Children with CVD consumed on average 4781 kcal (SD 1166.7), 146.7 g of proteins (SD 1166.7), 198.7 g of fat (SD 1166.7) and 638.4 g of carbohydrates (SD 1166.7) within 3 days. During the same period, children from the control group consumed 5358 kcal (SD 1077.5), 162.2 g of proteins (SD 33.59), 237.2 g of fat (SD 71.9) and 670.8 g of carbohydrates (SD 124 , 7). The groups were not divided into subgroups by age under and over 6 years old due to insufficiently large groups.

Video Surveillance Analysis Results

Despite the rather different content of the messages of parents about the behavior of their children during meals, in particular about the relationship between them and their children, according to video surveillance data, the behavior of children with CVD and children from the control group did not differ significantly (Table 4). For example, no differences were found in the number of cases of refusal to eat (turning away from food, getting up from the table, spitting out food). However, children with CVD were significantly more likely to refuse supplementation compared with children in the control group. Parents in the study group yelled at their children, trying to get them to eat, no more often than in the control group. However, with a larger number of participants, these indicators would be statistically more reliable.

Discussion

The study presented here is the first to document the nature and prevalence of eating disorders in children aged 2 to 11 years with CVD.

In children with CVD, problems with food intake of a different nature are significantly more common, in particular those associated with oral-motor disorders, and there are frequent cases of irregular and forced food intake (90% of cases in the group of children with CVD and only 25% in the control group). The most common problem among children in the control group is the problem of excessive picky, i.e. they consume only certain types of food (15.6%). About 60% of parents of children with SSR complained about this. The results obtained in the control group did not differ from those obtained in previous studies: prevalence of nutritional problems in children preschool age amounted to 12–34%; they mostly boiled down to refusal to eat or food “fads” (Skuse, 1993). The incidence of refusal to eat and food pickle in the group of children with CVR over 6 years old did not differ significantly from this indicator in the control group. As a rule, the number of cases of AMN decreases with age. The age range of children in this study is quite wide. This is due to the need to clearly define the size of the group in order to ensure statistically reliable analysis. The groups were matched by age; for some types of analysis, subgroups were identified: children under and over 6 years old. Of course, not an ideal methodological situation has been created, but based on the fact that the majority of children with CVD, regardless of age, have certain difficulties with food intake, we believe that this study can attempt to describe these problems that are typical for a certain age. ...

In most children, oral-motor disorders are combined with significant eating disorders, respiratory, neurological disorders and anatomical features (Alper and Manno, 1996). Prior to this study, it was known that only children with Turner syndrome who have growth and developmental impairments also have food intake dysfunctions due to MI (Mathisen et al. 1992). Based on the reports of parents of children with CVD that their children eat slowly and have difficulty eating a non-uniform consistency, it was concluded that in many children with CVD, especially those under 6 years of age, AMI is quite pronounced. Skuse (1992) argued that children with growth and developmental disorders also have speech disorders associated with OMN. Many children with CVS have developmental delays and speech impairments, which inevitably require treatment by a speech therapist (Saal et al. 1985; Lai et al. 1994; Kotilainen et al. 1995). Mild psychomotor disturbances or craniofacial nerve symptoms can cause significant dysfunctions in food intake in children with CVD.

According to parents, some children have a violation of swallowing, mobility of the tongue and soft palate and, possibly, a violation of the structure of the soft tissues of the oral cavity. However, these statements are only assumptions, to prove which it is necessary to conduct further research. When conducting objective assessment OMN using standard methods it took the participation of a speech therapist. It is possible that SMI play a certain role in the occurrence of eating disorders in children with CVR, but further research is needed to objectively assess these disorders. Reilly and Poblete (1996) described the importance of observing children's food intake in confirming parental reports of eating difficulties and in assessing the degree of PMD. These methods should definitely be adopted in the conduct of research on OMN in the future.

More than 90% of parents reported at least one type of eating disorder in their children with CVD; this figure is consistent with the results of previous studies. Lai et al. (1994) showed that 80% of the children with CVD examined by them had pronounced dysfunctions of food intake in infancy and early childhood. Given that 36% of children with CVD have glycemia, this can be a very serious problem (Lai et al. 1994). If a child has a predisposition to hypoglycemia, then if the intake of nutrients is insufficient, which can lead to a sharp decrease in blood sugar levels, he may develop certain neurological disorders.

However, the absence of pronounced differences between the study and control groups, despite the difference in weight, the severity of problems with food intake, negative aspects of eating, confirms the data of previous studies that children with CVD are capable of clear self-regulation of energy expenditure, as well as the fact that such children of preschool age also have the ability (Shea et al., 1992). That is, a child with CVD, despite poor appetite, does not consume significantly less food than his peers who do not have any developmental disabilities. Thus, the amount of food consumed does not significantly affect the severity of problems with food intake. These findings support the results of previous studies, in particular Thommessen et al. (1991), that there are no significant differences in energy and nutrient intake between children with and without eating problems. Harris and MacDonald (1992) reported the results of evaluating behavioral disorders in children with cystic fibrosis. They found that despite reports from parents of poor appetite in their children, the energy value of food consumed per day by these children was in line with the recommended norms (MacDonald et al., 1997).

These findings will help convince parents not to worry about the nutritional value and adequacy of their children's nutrition. However, it should be remembered that it is extremely important for children with CVD to consider the energy value of the foods they eat due to the potential risk of hypoglycemia. Given that children with CVD consume the same amount of food as their peers without CVD, it is important to know how their digestion and energy distribution are going. It should also be borne in mind that although the energy value of the daily diet in children with CVD does not differ from that in children in the control group, food digestibility in them may be impaired, which can cause hypoglycemia and body weight deficiency. Further research is contemplated on whether children with CVD have problems with digestion or energy distribution. Perhaps the data obtained can explain their thinness.

When evaluating video recordings of the relationship between parents and children during meals, it was revealed that children with CVD more often than their peers from the control group refuse to take food supplements. This, as well as the frequent shouts of parents of children with SSR in order to persuade or force them to eat (usually to no avail) suggests that, despite the artificially created favorable conditions by installing video cameras, the relationship between parents and children during meals is more negative. in families of children with SSR compared with families in which children without SSR. Parents often over-control their children, especially when there are concerns about the child's development and growth (Birch et al. 1991; Harris and Booth 1992). For the same reason, it is sometimes difficult to convince parents that the child's body is capable of self-regulation, especially in children over 3 months of age (Harris, 1988). Evidence presented in this report suggests that eating disorders in children with CVD are due in part to parental efforts to exert greater control (MacDonald et al. 1991; Harris and Booth 1992; Harris and MacDonald 1992; MacDonald et al. others, 1997). By the age of 7 (this is the average age of the children in the study), most of the dysfunctions in food intake have disappeared or become less pronounced. For many of these children, eating problems can persist for many years, which inevitably leads to serious parental concerns about nutrition and their interference in this process. If such a child refuses to eat in early childhood, then in the following years, he will have a violation of the function of eating (Dahl et al., 1994). Difficulty eating can affect the child's overall well-being and contribute to increased stress in the parents (Hagekull and Dahl, 1987).

Conclusion

This study confirms the assumption that children with CVR have more pronounced dysfunctions of food intake than normally developing children. Children with CVD have significantly more problems in almost every area. Oral-motor disorders are especially common, namely, difficulty in chewing food that has a non-uniform consistency and a slow pace of eating. The amount of consumed kilocalories, proteins, fats and carbohydrates in children with CVD does not differ significantly from those in children who do not suffer from this pathology. These results support previous studies (Thommessen et al. 1991; Harris and MacDonald 1992; MacDonald et al. 1997). According to video surveillance data, parents of children with CVD behave more demanding than parents from the control group, and children with CVD resort to various tricks in order to avoid food intake significantly more often than children in the control group. Prior to this study, eating problems were not considered to be common in children with CVD. Thus, the findings are useful for describing the prevalence and severity of eating problems in children with CVD. To eliminate this problem, it is necessary to improve the relationship between parents and children during meals, provide the ability to control food intake to the child himself and stop parents worrying about their children's food intake, as well as their height and body weight.

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In modern medical practice there are many various diseases... Some are well-known, acquired in the process of life, others are congenital. Russell-Silver Syndrome is one of the genetic diseases.

Features of the disease

Another name for this syndrome is also known, such as Silver-Russell dwarfism. The study of intrauterine developmental delay was carried out by pediatricians A. Russell and H. K. Silver, after whom the disease is named.

A characteristic feature of this ailment can be called a delay in physical development even during the period of gestation, namely, a violation of the formation of the child's skeleton. Subsequently, there is a late closure of the fontanelle. Hereditary causes are still not well understood. One person in 30 thousand gets sick with this syndrome. Gender characteristics do not affect the course of the disease. The pathogenesis of Russell-Silver syndrome is discussed below.

Causes of occurrence

The root cause of the disease is changes at the genetic level, in which the pattern of inheritance is not periodic or systemic. Basically, chromosomes seven (ten percent of cases), eleven, fifteen, seventeen, eighteen, which are fundamental in the formation of human growth, are affected. Small stature most often occurs due to the fact that the child inherits these chromosomes from the mother. This process is called uniformed maternal disomy. A child who is born with this disease has a very small body weight (no more than 2500 g), despite the fact that the pregnancy is full-term. In the process of life, growth retardation is also noted in adults. Body weight is fully consistent with age, sometimes it is overweight.

Symptoms of Russell-Silver Syndrome

The work of the genitourinary system associated with cryptorchidism (a change in the reproductive system when the testicles are in an atypical place for this), hypospadias (the urethra is not in its place), underdevelopment of the penis and scrotum are disrupted. External changes in a person with this disease take place, which is manifested in the asymmetry of the body, this applies to both the face and body, the length of the arms and legs.

Russell-Silver syndrome also affects the shape of the face. The cerebral section of the cranium, where the brain is located, is much larger in size than its facial part, while there is a clear increase in out of proportion. The face takes on a triangular appearance, where the forehead is convex, and the lower jaw and mouth are largely smaller, this change is called pseudohydrocephaly. The corners of the lips are slightly lowered down, the palate is raised, sometimes it even meets with a cleft. The ears of a patient with the syndrome are most often protruding. In addition, this can be attributed to external signs: violation of the secretion of the sebaceous glands, narrow rib cage, the convex shape of the spinal column forward; curvature of the little finger.

Diseases of the internal organs that accompany the syndrome

In addition to external signs, such as small stature and distortion of facial features, problems with internal organs... This syndrome (signs indicating a violation appearance, presented earlier) affects the functioning of the kidneys due to the fact that they were malformed (horseshoe shape with an enlarged renal pelvis and tubular acidosis). Changes are also observed on the part of the reproductive system: regardless of gender, puberty in the early stages is characteristic. Thirty percent of people are around the age of six. This is due to the fact that there is a significant increase in the amount of sex hormones, however, intellectual abilities are normal.

Diagnosing Russell-Silver Syndrome

This disease is diagnosed even in childhood. Such a diagnosis is made by a pediatrician when examining a sick child. In addition to the standard examination, the patient undergoes tests for the laboratory to determine the level of sugar in the blood. It is common for patients who are diagnosed with this to have low blood glucose levels. Testing is also done to identify chromosomal abnormalities. Most often, these problems take place.

The patient needs to pass a test for the amount of growth hormones, since with this syndrome there is a lack of it. It is also necessary to analyze the formation of the skeleton in order to exclude factors that can give a false positive result. The diagnosis is mostly clinical, but it can be confirmed by a genetic abnormality.

Treatment features

As well as the main quantity hereditary diseasesRussell-Silver syndrome does not require specific treatment. All therapies for this disease focus on providing better living conditions. With slow growth, growth hormone is prescribed to patients. With regard to early puberty, special hormonal preparations are prescribed.

There are individual cases when it is necessary to resort to help with this ailment. plastic surgeon... In addition, sometimes a sick child has to be transferred to individual training due to the fact that the child has mental retardation, but intelligence with this syndrome is normal. These measures have to be applied because of the psychological disorders in the child in the process of his studies in a regular school.

With a diagnosis of Russell-Silver syndrome, patients should be registered with an endocrinologist and undergo regular medical examinations.

Women can both conceive a child and carry him out. The likelihood of heredity of this disease is individual in each case.

If a girl does not plan a pregnancy, and her worries are limited only to excessive hair growth, purulent skin rashes and menstrual irregularities, then it is necessary to undergo therapy with drugs containing antiandrogens and estrogens.

However, the use of glucocorticoid drugs that restore ovarian function has practically no effect on reducing excess hair. In the case of obvious virilism of the genitals, plastic corrective surgery is performed, which consists in removing adrenogenital signs, which can manifest itself from clitoris hypertrophy to complete masculinization of the genitals.

In addition, if the cause of virilism is a tumor in the adrenal gland or ovary, then it is recommended surgical method treatment. How many people live with Silver Russell syndrome? Let's consider further.

Forecast

The sick person has small height and weight, otherwise the long-term prognosis will be good.

Russell-Silver syndrome is a fairly rare congenital disease (1-30 cases per 100,000 people). Pathology is diagnosed in early childhood and is characterized by growth retardation (including intrauterine growth), impaired formation of the skeletal system, as well as puberty. Consider the causes, symptoms and treatment features of this ailment.

Russell-Silver syndrome: features of manifestation

The disease was first described by pediatricians Silver and Russell in the middle of the 20th century. In their studies, they revealed the relationship between an increase in gonadotropic hormone in the human body and a symptom of short stature.

Later, the influence of this hormone on sexual development was proved.

Russell-Silver syndrome is diagnosed in both females and males. In most cases, this genetic disorder occurs sporadically, although pedigrees with this ailment are extremely rare.

Causes

To date, there is no exact data on the causes of the development of Russell-Silver syndrome.

Numerous studies make it possible to conclude that there is a genetic provocateur of the process, which is transmitted from the mother.

Symptoms

Russell-Silver syndrome (mcb10) has characteristic signs of manifestation in infancy:

• Low birth weight.
• Enlarged cranium, pronounced forehead and narrow chin (gives the impression of "pseudohydrocephaly").
• Underdevelopment of the genitals.
• A narrow chin, a small mouth, the corners of the lips are lowered.
• Late closure of the large fontanelle.
• Insufficient weight gain and growth.

Congenital malformation in the first year of a child's life often makes itself felt by frequent vomiting, constipation, gastroesophageal disease.

Sometimes the first symptoms of the disease are not clearly expressed, and later such violations join:

• Asymmetry of the body structure, which leads to gait disturbance.
• Scoliosis.
• Curvature of the V finger.
• Low stature.
• Diseases of the gastrointestinal tract.
• Late teething.
• Caries.
• Kidney pathology.
• Availability on skin rounded coffee-colored stains of different sizes.
• Early puberty.

In children with Russell-Silver syndrome, as a rule, secondary sexual characteristics appear early (hair on the face in boys, in the groin and armpits in both sexes, menstruation in girls, etc.). The intellect of such patients, as a rule, is preserved.

Diagnostics

Modern medicine makes it possible to identify this pathology even during the prenatal period of the child's development.

From the 22nd week of pregnancy, genetic testing is possible. If the analysis shows the possibility of this defect, there is a need to differentiate it from other disorders:

• Farconi's syndrome.
• Bloom's syndrome.
• Nijmegen syndrome.

These pathologies have symptoms similar to Russell-Silver syndrome, and are no less serious diseases.

Future parents are warned about possible risks, deviations in the development of the child, physical disorders, psychological trauma of both the child and his relatives, as well as the lack of an optimal option for correcting the condition of such a patient.

The mother and father must decide on the advisability of further bearing a child diagnosed with Russell-Silver syndrome.

Treatment

This disease has not been sufficiently studied so far, so there is no single correct method for its treatment.

Based on this, the main task in the treatment of the syndrome is to maximize the effect of the disease on the quality of human life, as well as to prevent possible complications.

Early detection of pathology allows you to start correcting its development earlier.

Typically, treatment for Russell-Silver syndrome includes the use of such hormonal drugs:

• Humatrop.
• Rastan.
• Saizen.
• Genotropin.

The expediency, dosage and schedule of taking these drugs are determined by the attending physician on an individual basis, tracking their effect on the patient's condition.

Statistics show that the use of hormone replacement therapy brings the following results:

• During the first year of treatment, the patient gains 8-13 cm in height.
• In the second year, the patient grows another 5-6 cm.

In addition to the positive dynamics in human growth, there is a decrease in the asymmetry of the body structure, as well as scoliosis.