Human life, which begins with the moment of birth, is affected by many factors related to birth and even pre-conception and birth. Preventing a cause that may cause disability, especially during infancy, depends on multiple variables. In addition, in our country, where consanguineous marriage is seen at a rate of 17-27%, early recognition of metabolic, neurological disorders and disabilities that develop due to consanguineous marriage becomes important. Genetic counseling becomes even more important, especially if one of the family members has a diagnosed genetic disorder. Factors that cause disability in children are examined in four groups:
A. Prenatal Long-lasting high fever, especially in the first three months of pregnancy,
Various diseases during pregnancy, Drug use during pregnancy without the supervision of a doctor, Alcohol, Smoking and similar substance use, Some chronic diseases of the mother (hypothyroidism, etc.), Inadequate and unbalanced nutrition, Accidents during pregnancy. Brain damage during pregnancy, premature birth and low birth weight babies.
C. Postpartum Not receiving enough breast milk, Exposure to environmental pollution, Lack of stimulation, Iron deficiency, Infectious diseases of the central nervous system (such as meningitis), Metabolic diseases ( phenylketonuria, hypothyroidism, etc.), Brain damage as a result of accidents.
D. Genetic causes Consanguineous marriages (disease occurs in the presence of genes that cause mental disability in the family), Nutritional Therapy to Prevent Pregnancy-Related Disability Healthy birth of children, balanced and adequate nutrition of the mother It is of great importance to protect the health of the baby and one's own health and to raise awareness on this issue.
The relationship between nutrition during pregnancy and the baby's birth weight, brain development, intrauterine death, prematurity and preeclampsia has been proven by various studies. There are some factors that negatively affect the health of the mother and the baby during pregnancy: Mother having a child at an early or late age. Number of pregnancies. Period between the last two pregnancies. Infections during pregnancy. Medicines used. Chronic diseases of the mother. Receiving radiation. Intake of mold, pesticide and fungal residues through food. Insufficient and unbalanced nutrition of the mother. In societies with low socio-economic levels, a pregnant woman gains 6.5 kg of weight during pregnancy, whereas in societies with adequate and balanced nutrition, this increase reaches 10.5 kg.
14% of the children of women who cannot gain sufficient weight during pregnancy are premature or low birth weight (Nutrition Therapy in Disabled Children There are two types of nutritional disorders in disabled children: Obesity: It occurs as a result of the energy intake being less than the energy spent. Short stature, which is the most important indicator of chronic malnutrition , developmental delay in long bones and low physical activity have brought the obesity problem to the agenda.
Malnutrition: Deficiency of required nutrients for a long time. These children with lack of movement (muscular dystrophy, muscle weakness, inability to walk) have two problems in terms of nutrition. These are children with growth and development retardation and malnutrition.
The consequences of malnutrition are as follows: Functional capacity decreases. Physical activity decreases. Functions in the gastrointestinal system decrease. The immune system is negatively affected. A deterioration in psychological functions and quality of life is observed. Growth and development slow down. The cost of the disease increases.
Clinical Nutrition or Medical Nutrition Therapy: It is a supportive treatment that is highly effective on the quality of life, which directly affects the prognosis of patients hospitalized or treated at home.
Which Patients Should Get Nutritional Support? Should it be given?
It should be given in weak patients with excessive muscle loss, in patients with protein energy malnutrition, in patients undergoing physical therapy and rehabilitation, in cases where the child cannot perform any function, in cases of frequent infections, in apathy and difficulties in food intake, and in increasing hospitalization. Basic Principles of Nutrition Increasing resistance against infections, strengthening the immune system, ensuring growth and development, adjusting the diet according to the child's age and body weight and general clinical condition. Providing increased energy requirements, preventing the development of malnutrition, providing the most appropriate nutritional treatment and nutritional support in developed patients. Factors that make intake difficult: Difficulty in chewing food Difficulty in swallowing food Removing food and clenching teeth, difficult chewing Constipation due to continuous intake of watery food Inability to put food into mouth, inability to eat on one's own Nutritional support is required due to insufficiency in feeding and consuming food. Nutrients that Play a Role in the Formation of Nerve Cells Protein and lipids Sodium, potassium and other electrolytes B group (folic acid, B12, B6) vitamins Glucose play a role. The most common nutritional problems in patients are chewing, swallowing difficulties and esophageal reflux. Oral nutrition (products of different tastes, daily nutritional supplements), feeding through gastrostomy tubes and food rejection anorexia and, accordingly, enteral nutrition products are recommended for patients who have developed esophageal reflux. Standard polymeric and concentrated polymeric enteral products can be used in these patients. These products are rich in energy, protein, vitamins, minerals and trace elements. It contains nutrients that support the central nervous system, such as carnitine, biotin, choline, inositol and taurine. Additionally, carbohydrate and protein modules from modular products can also be used in these patients. Carbohydrate modules contain maltodextrin and are easily soluble and digested compared to polysaccharides.
They are used as an energy source in unbalanced nutrition, inadequate food consumption, general muscle weakness, liquid nutrition, chronic nutritional disorders and frequent infectious diseases. Protein modules are milk protein in powder form with high biological value. They contain high amounts of calcium and small amounts of fat. It is used to meet the increased protein requirement in cases of general nutritional deficiencies, decreased food consumption, frequent infections and decreased muscle strength, growth retardation and anorexia.
Vitamin E: Vitamin E is tocol and tocotrienol derivatives with biological activity. The most important are α, β and γ tocopherols. It is α tocopherol that shows standard vitamin E activity. Clinically, its deficiency causes neuropathy, myopathy and cardiomyopathy. α tocopherol interacts with cell membranes.
Vitamin C: It is an antioxidant vitamin. It has an active role in the immune system, preventing infections and preventing iron deficiency anemia. Daily requirement is 50-100 mg.
Coenzyme Q-10: It is one of the antioxidants with potential therapeutic value. As a coenzyme, it helps convert nutrients into body energy. It has a physical endurance enhancing effect resulting from its effect on energy production. Requirement in adults: 30-90 mg/day. The dosage is decided according to the course of the disease and food consumption. It is naturally found in fish and red meat.
Vitamin B1: When energy intake is increased, thiamine intake should be above the RDA (0.5 mg/1000 kcal). Thiamine is important in the release of presynaptic neurons in acetylcholine metabolism. Thiamine deficiency damages the cholinergic system and the thiamine-related enzyme structure changes. Vitamin D and Osteopenia Risk: Vitamin D deficiency disrupts bone and muscle tissue through calcium absorption. Addition of vitamin D prevents the formation of osteomalasia and rickets in epileptic children receiving anticonvulsant treatment. Folic Acid: These types of drugs cause clinical level folate deficiency (megaloblastic anemia) by using folic acid as a cofactor during their enzymatic metabolism. Weight loss, growth retardation, and muscle weakness occur. Nutritional treatment consisting of high energy, high biological value protein and frequent meals is recommended. Magnesium: It plays a role in the formation of bone, protein and fatty acids, new cell formation, activation of B vitamins and increasing muscle strength. It is necessary for the formation of ATP. Magnesium deficiency develops as a result of inadequate nutritional intake, multiple drug use, and disorders in gastrointestinal and renal tubular functions.
Neuromuscular and cardiovascular diseases, endocrine disorders, and constant fatigue are observed as a result of magnesium deficiency.
Zinc: In ensuring growth, It is an indispensable element in protein synthesis, in the protection of the body against free radicals in the immune system, and in the structure of structural enzymatic and regulatory proteins. It enters the structure of more than 300 enzymes. It has an additional function as a neurosecretory product or cofactor in the central nervous system. Zinc is found in high amounts in the synaptic vesicles of neurons. These neurons are mostly found in the brain, and when they are lacking, protein metabolism is structurally impaired. and malnutrition and developmental delay occur. The average daily requirement is 15 mg.
Iron: In addition to inadequate intake in these children, factors that reduce iron absorption (phytates, tannins, malabsorption, protein-poor diet) cause iron deficiency. It increases the difficulty of the disease with symptoms such as lack of attention and weakness. Carnitine: It is synthesized from the essential amino acids lysine and methionine in the liver and kidneys. Its most important function is to ensure the transfer of long-chain fatty acids (12 - 18 C) to the mitochondrial matrix, thus taking part in the β-oxidation of fatty acids. Acetyl CoA, the oxidation product, enters the citric acid cycle and provides energy generation in the form of ATP. Due to this feature, carnitine provides energy to muscle tissue and increases the working speed of the muscle. Long Chain Polyunsaturated Fatty Acids: Necessary for the development of eye and brain tissues. It is beneficial to take omega-3 fatty acids in daily doses recommended by a dietitian and physician for the central nervous system, cells to become functional, the strongest anti-inflammatory effect and to strengthen the immune system. Constipation: In order to eliminate the constipation problem that is common in these children, fluid and fiber intake should be increased, and foods such as dried fruits with laxative effects should be added to the diet.
Lack of appetite: It can be seen in certain periods of life and may occur in the form of refusing food or being satisfied with a small amount of food. Depression should be treated in these individuals, interesting pursuits should be found, physical pain should be reduced, food should be prepared and presented in an attractive form, appetite should be stimulated in groups, on picnics, and by avoiding excessive insistence. Foods (empty calorie sources such as junk food) should be avoided. In preventing excessive weight gain and balancing body weight according to height, meals should not be skipped, adequate and balanced nutrition programs should be implemented and foods should be cooked with healthy cooking methods.
As a result, the number of daily meals should be increased, night nutritional support should be provided, foods containing good quality protein suitable for age should be consumed. Vitamin and mineral support should be provided with nutrients, gastrostomy tubes or nasogastric tubes should be used due to difficulty in food intake.
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