The baby has short legs

All male infants weigh less than 910 g and 20 % boys weigh less than 2 kg.

7-8 months: characteristics of infant development. squatting (sideways)

At around 8 months, the baby's range of motion increases significantly, he begins to crawl and learns to lift his body. The world around him takes his full attention! Therefore, it is often difficult for your baby to fall asleep and relax. You can make the transition to sleep interesting for you and your child. This can easily be done with a daily ritual. This includes quiet strokes and cuddles, stories ('What did we do today?'), songs or even a music box with a favorite tune. All of these techniques can be used from an early age. Consistently following the ritual will make it easier for the child to prepare for sleep. It is not necessary for both parents to perform the same ritual, they must adhere to their own ritual.

Important!!! If your child has not rolled from its back to its stomach by the age of 8 months, it needs therapy. You can read more about diagnosing childhood developmental disabilities here.

Age 7-8 months

moving and lifting

This phase is all about movement and getting on your feet. Movement is fun! The child easily rolls onto its stomach and back, turns around its own axis while lying down and crawls quickly and easily through the apartment. Baby begins to reach for toys, looks at them while lying on his back or plays with them while lying on his elbow on his side. For the first time, the child independently finds the right sitting position, the so-called side sitting position.

The child can sit on their side in various ways, e.g. B. by leaning on the forearm or by standing up with the help of the arm. For the first time, the buttocks and shins are actively engaged from the side: the baby sits with hips and knees bent. Now only one hand is needed for support, leaving the other free: you can touch your head or face and explore, play with toys or pick up small objects from the ground.

Another way to get into this position is on all fours. The child leans on his arms and raises his body so that only the hips are loaded and the hips are fully extended. When the child is pushed even higher, the abdominal and hip muscles reflexively tighten: the child gets on all fours and from this position rotates the pelvis and sits down, shifting the weight of the body to the side.

The squat is asymmetrical and still requires support from the hands, but it is an intermediate position between lying down and standing up. The side squat is a kind of bridge to standing and helps the child learn to stand. After a while, the child will be able to get up from this position on all fours and crawl and climb on their knees, leaning against the furniture. From there it goes higher and higher. Only in the oblique squat does the child learn to stretch his legs and sit up straight without using his arms. Initially, this is called immature sitting, when the legs are rotated in or out too far, and the pelvis and spine are still too unstable and curved. But now the child has both hands free and can devote itself to fine motor play with curiosity.

Symptoms of Hypothyroidism

Babies with an underactive thyroid are often born prematurely with a high birth weight (over 4 kg). Symptoms of hypothyroidism are not very pronounced in the neonatal period. This is because the child absorbs the thyroid hormones through breast milk. The symptoms therefore appear gradually.

What should you watch out for in newborns?

• Babies are sluggish when it comes to nursing or bottle feeding and gain weight poorly.
• Muscle tone is reduced.
• The heartbeat is less frequent and muffled on auscultation.
• Breathing is disturbed. These include difficulty breathing through the nose and stopping breathing during waking hours.
• Children with hypothyroidism quickly become hypothermic and do not maintain their body temperature.
• You tend to have stool retention and the first bowel movement is late.
• The skin may be dry and pale. A thickened fold of skin can be seen on the neck.
• There may be severe swelling.
• Jaundice in these children is usually long-lasting.
• It is not uncommon for the umbilical cord to fall off later than usual and for an umbilical hernia to occur.

Central hypothyroidism is one of the rare forms of congenital hypothyroidism. Symptoms of an underactive thyroid in this case can include low blood sugar and sodium, persistent jaundice, a small penis, and testicles that do not descend into the scrotum.

Left untreated, the symptoms of hypothyroidism progress. This can be observed at the age of 3-6 months:

• The child is severely impaired in its growth and development. His weight gain is small, but he doesn't seem emaciated because he has a lot of swelling.
• The body proportions are abnormal: short arms and legs, long trunk in relation to the limbs, short fingers, broad hands, short and thick neck.
• Characteristic facial features: broad bridge of the nose in combination with narrowed eye slits, swollen eyelids, large tongue.
• Late teething is noticeable.
• The child is severely retarded in its mental and motor development: it moves little, is unsociable, sleepy, apathetic.
• The skin is cold, rough to the touch and dry.
• Digestive problems, delayed bowel movements and bloating can be characteristic. An umbilical hernia is not uncommon.

Diagnosis of hypothyroidism

Since 1993, all newborns in Russia have been examined for various hereditary diseases (neonatal screening). This includes congenital hypothyroidism. Newborn screening makes it possible to identify almost all sick children in the first month of life.

This test essentially examines the thyroid hormone level in the blood of the newborn. This blood is taken from all newborns in the maternity hospital or in the neonatal pathology department. If the hormone levels in the baby's blood are too high, a repeat test will be ordered. Children with hypothyroidism are diagnosed based on the results of the repeat test.

A normal thyroid hormone value on the 3rd to 5th day of life in premature babies is no more than 20 mU/ml. If the hormone level is 20-50 mU/ml, a repeat test is carried out. If the thyroid hormone level is higher than 50 mU/ml, treatment is started immediately.

The exception that confirms the diagnosis using this method is central hypothyroidism. This is a very rare form of the disease with a frequency of 1:50,000 and is associated with disturbances in the pituitary and hypothalamus. Thyroid hormone levels are normal or reduced in this form of the disease. Decreased levels of the thyroxine hormone ─ are detected.

There is a molecular genetic test to detect congenital hypothyroidism. It is very complex and does not always deliver the desired result. However, this analysis is not particularly important. Regardless of the type of hypothyroidism, it can be treated well if diagnosed early.

causes

The disease is caused by a spontaneous chromosomal abnormality, a deletion of chromosome 17 at position 17p11.2, involving the loss of up to 4 million nucleotide pairs. Up to 25 % clinical cases of Smith-Magenis syndrome are atypical microdeletions, where a smaller fragment of the short arm of the chromosome is lost. The disease is sporadic, and researchers have yet to identify typical patterns and triggers.

The development of the characteristic symptoms of the syndrome is mainly attributed to a disruption of the RAI1 gene, which is a retinoic acid inducer. Scientists debate its involvement in tissue differentiation, which explains the development of numerous birth defects. It is believed that RAI1 also plays a role in neuronal differentiation. Some psychological manifestations of Smith-Magenis syndrome are caused by a disruption in melanin synthesis and breakdown.

symptoms

Babies have typical characteristics that can already be recognized in infancy. They typically have a broad, square head, a convex forehead, and deep-set Mongoloid eyes. The syndrome is also characterized by an underdeveloped midface, a short nose with upturned nostrils, and a hollow upper lip with a relatively small lower jaw. The children have disproportionately short arms and legs and have been stunted from an early age.

A specific diagnostic feature of Smith-Magenis syndrome is sleep disturbance. In the first year of life there is abnormal sleepiness; these children sleep a lot during the day and need to be woken up to feed. Over time, the circadian rhythm becomes disrupted and a late bedtime with frequent nocturnal awakenings predominates. With increasing age, the patient sleeps more and more during the day and can no longer sleep at night.

Mental and neurological changes include moderate mental retardation, which occurs in almost all patients. Characteristic features include delayed psychomotor development, difficulty in pronouncing words, attention deficit with psychomotor hyperactivity syndrome. Up to 30% of % patients have neurological disorders: motor incoordination, peripheral neuropathy, seizures.

Smith-Magenis disease is accompanied by a specific behavioral profile. The children suffer from stereotypical behaviors and display maladaptive personality traits—outbursts of anger, disobedience, constant demands for adult attention. Some patients are prone to self-injury: they bite, pinch or hit themselves, insert foreign objects into physiological orifices.

Symptoms of Rickets in Children Under One Year (Symptoms)

Symptoms of the disease are unremarkable at the initial stage, so many parents do not pay much attention to them. They explain their child's excessive sweating by swaddling them too tightly or poorly ventilating a stuffy room. They write off the bald patch on the back of the head as restless sleeping habits. However, if the parents were a little more observant, they would find that the child:

• sweating, urine smelling sour ;
• sweating, diaper rash is systemic;
• Response to noise is acute;
• crying is increased;
• falling asleep is difficult;
• appetite is bad;
• Vomiting, diarrhea, constipation are common.

The initial stage of the disease lasts about 1-2 months. If preventive measures are not taken during this period, other, more serious symptoms of rickets will gradually appear:

• softening of the frontal and parietal bones;
• Thickening, lengthening of the skull
• bulging or bulging of the breast;
• enlargement of the wrists, phalanges of the fingers;
• curvature of the feet;
• Weakening of the muscle tone of the abdominal wall.

The first symptoms of rickets in children under the age of one are common. However, correcting your diet and lifestyle early on and taking medication containing vitamin D can prevent the disease from progressing. If this point is missed, the physical and mental development of the child is inhibited by damage to the bone and muscle tissue, as well as the ligaments and joints.

causes

The main cause of rickets is a lack of vitamin D, which is actively involved in calcium-phosphate metabolism. This vitamin is both ingested with food and formed in the skin under the influence of natural or artificial ultraviolet light. Through this:

• it increases the absorption of calcium in the small intestine;
• improves phosphorus reabsorption in the kidneys;
• promotes the production of interferon;
• stimulates calcium absorption by muscle tissue;
• supports the normal metabolism of micronutrients and proteins.

If there is a lack of vitamin D in the child's body, canalicular bone formation is inhibited and there is an excess of growing bone tissue. From this arise the characteristic symptoms of rickets in children under the age of one year: thickening of the skull, deformation of the chest, softening of the edges of the fontanelles. Infants most at risk of rickets:

• Little sun exposure;
• born in autumn or winter;
• weakened and born prematurely;
• infectious diseases;
• artificially fed;
• allergy sufferers.

Children whose mothers suffered from toxemia during pregnancy are also at risk. Improper introduction of complementary foods, an unbalanced diet and frequent colds also contribute to the development of rickets. Children with dysbacteriosis, liver and kidney diseases are also at risk of developing rickets.

Which doctor should be consulted?

Parents should pay more attention to symptoms such as excessive sweating, nervousness and loss of appetite. Because the first symptoms of rickets in children under 1 year old are similar to these. It is advisable to see a doctor specializing in:

Genetic defects in children - sex chromosome aberrations

Sex chromosome aberrations (X stands for female and Y for male) result in the loss of a chromosome or the presence of an extra sex chromosome. One of the diseases associated with these abnormalities is Turner syndrome, which is caused by the presence of a single X chromosome and occurs in girls with a frequency of 1:2500.

The birth weight of newborns is about 500 g less than the average for healthy newborns, and their body length is about 3 cm shorter (the average height of an adult female is 143 cm). Lymphedema, a high forehead, a wide base of the nose, a small, narrow lower jaw, and low-set and protruding ears are also found in the newborns.

Girls with Turner syndrome are also characterized by impaired visual motor skills, spatial awareness, concentration, difficulty solving problems and learning math—many are musically gifted. Most adult women with Turner syndrome have normal working lives and their IQ is within the normal range.

Another chromosomal abnormality in women is the presence of an extra X chromosome - so they have three X chromosomes instead of two - the frequency of this abnormality is 1 in 1000 girls. Girls with this abnormality develop normally at birth, but their average birth weight, height, and head circumference are slightly smaller than girls with normal X chromosomes. However, most women with this anomaly lead normal professional and family lives (about 75 % of women are fertile).

Klinefelter syndrome is associated with chromosomal abnormalities in boys. The frequency is 1 in 700 to 1,000 boys. The cause of this condition is an extra X chromosome – instead of one X chromosome and one Y chromosome, there are two X chromosomes and one Y chromosome. It can also happen that two or three extra X chromosomes are present, but this is very rare. However, diagnosing Klinefelter's syndrome in newborn age is not possible, since there are no characteristic clinical signs.

Genetic testing for genetic defects

Genetic tests can already be carried out during pregnancy. If anomalies are detected in the genetic makeup of the fetus, early diagnosis can help expectant parents prepare for the birth of a child who will need special care if the woman decides to give birth.

If prenatal testing indicates a high probability of serious and irreversible harm to the fetus or an incurable disease threatening the fetus, the pregnancy can be lawfully terminated until the fetus can live independently. In some cases, confirmation of a genetic defect in the fetus allows treatment to begin immediately after birth or while the baby is still in the womb.

Testing the baby's DNA is possible, among other things, thanks to the Harmony test, a new non-invasive prenatal testing method in which fetal DNA from the mother's blood is analyzed in the laboratory. With this method, the fetal risk can be determined with an accuracy of more than 99 %:

This test can also be used to determine the sex of the baby.

The Harmony, NIFTY Pro and SANCO tests are purely screening tests. In the case of abnormalities, the diagnosis must be confirmed by invasive testing, which requires taking a biological sample from the fetus. However, this can be associated with complications such as harm to the fetus, miscarriage, or infection.

Invasive tests include amniocentesis, chorionic villus sampling, cordocentesis, and fetoscopy. After delivery, a karyotype test (cytogenetic or molecular) or e.g. B. the NOVA test can be carried out. However, the NOVA test does not detect the presence of chromosomal abnormalities, but checks for primary immunological deficiencies or congenital metabolic diseases that are very dangerous for the baby's health.

How should the folds on the legs be arranged?

Newborns and infants in the first year of life have special skin folds on the buttocks and thighs. Ideally, when folding the baby's legs, the groin and knee creases should mirror each other (form a horizontal line).

If the folds on the legs are asymmetrical, this can be either a congenital developmental feature that does not pose a threat to the child's health, or a sign of the development of a pathology. Therefore, if you notice asymmetry of the folds on the legs, you should consult a doctor who will examine the child and conduct the necessary diagnostics.

How many wrinkles should a baby have on their legs?

Ideally, your baby should have two folds on each thigh and one fold on each buttock. All folds in a newborn should be symmetrical.

Skin folds in infants require special daily care to prevent redness and diaper rash. Among other things, the popliteal and groin creases of the infant must be taken into account. Regular diaper changes and baths are just as important as using baby creams and powders.

Abnormal hypertonicity impairs muscle control

Muscle tension is the resistance that a muscle offers to movement. For example, it can be measured by squeezing the biceps in a relaxed state. The resistance of a muscle is its tone. Assessing muscle tone is part of the standard neurological examination of a child from the neonatal period.

When a baby is born, it is usually physiologically hypertonic: the upper and lower limbs are pressed against the body, and the hands are often clenched into fists. This is normal in the first few months of life. Then the tone gradually decreases, allowing the baby to learn new skills: rolling, crawling and so on.

In some cases, however, the tone is pathological: too low (hypotonus) or too high (hypertonus). Both can affect the normal development of the child. With hypertonicity, the muscles are too stiff and therefore difficult to control. This makes it difficult for the child to learn motor skills. As you age, you may experience difficulties with walking, balance, and the ability to lift and hold objects.

Oleg Eletsky, pediatric neurologist:

– The tone of infants often changes during development and this is completely normal. In the first months of life, infants have physiological hypertonia of the limbs, which gradually decreases by the third month of life, and parents notice that the child's arms and legs are no longer pressed against the trunk, and general gymnastics is much easier.

Hypertension can be a sign of a problem

The tone changes as the child grows. But it can also change over the course of the day: if a child is anxious or crying, for example, the tone usually increases. This can also happen during a visit to the doctor, so the presence of a disease cannot be judged solely on the basis of an increased tone.

Oleg Eletsky, pediatric neurologist:

– Muscle hypertonia or muscle hypotonia are not diseases, but can be symptoms of various disorders of the nervous and muscular systems. Diagnoses that mention only tonus (muscular dystonia syndrome, movement disorder syndrome - muscular hypertonia), as a rule, mean that the neurologist found tonus characteristics during the examination at the child's age and do not suggest a serious pathology .

Persistent or extremely marked tone abnormalities are a concern, but in severe central nervous system disorders, tone is only part of the neurological examination.

What Are the Symptoms of Muscle Hypotonia in Children?

Some of the symptoms of hypotension in infants are:

• The child is too lethargic to be kept quiet
• Poor or absent control of the neck muscles, causing the head to hang loosely on the back of the neck
• The child cannot bend or raise his arms and legs in the supine position.
• Feeding problems (poor sucking and chewing)
• Faint crying
• From the age of 4 months, the child cannot carry any weight on its legs
• Hypermobile (very mobile) joints

Symptoms of hypermobility in toddlers and older children include but are not limited to:

• Delayed gross motor skills (eg, not sitting at 10 months, not trying to stand up at 12 months, not walking at 18 months)
• The child tires quickly and needs regular breaks for demanding physical tasks.
• The child prefers sedentary activities
• When the muscles of the mouth are affected, there is a delay in speech development
• Drooping shoulders
• Difficulty maintaining an upright posture for long periods of time
• Hypermobile (very flexible) joints

What causes hypotension?

Hypotension is more of a symptom than a condition. There are many different causes of hypotension, e.g. B. infections, genetic, neurological or muscular disorders. Sometimes hypotension occurs spontaneously. Such hypotension is called mild congenital hypotension. Premature babies sometimes suffer from hypotonia because their muscle tone is not fully developed at birth.

The outcome in each individual case depends largely on the nature of the underlying condition. Hypotension usually does not significantly worsen, and sometimes even improves. It usually does not threaten life expectancy. Hypotension does not impair intelligence per se, although many underlying conditions can impair one or more aspects of cognitive function. Whether a child outgrows hypotension depends on the underlying cause of the condition. If the underlying cause can be treated, e.g. B. an infection, muscle tone often improves. Infants with mild congenital hypotension often improve as they grow, but mild weakness may persist into adulthood. If there is an underlying condition that cannot be cured, hypotension may not go away, but there are many ways to control reduced muscle tone.

Treatment of cryptorchidism

Drug treatment of cryptorchidism

Drug treatment of cryptorchidism results in testicular prolapse in 30-60 %. If the testicle is close to the scrotum, there is a 90 percent chance of a favorable outcome. However, if he is in the abdominal cavity, then taking medication will not be successful. In such cases, surgery is required.

Treatment for cryptorchidism begins at 6 or 12 months of age. A contraindication to drug treatment is when the patient enters puberty, when the natural level of testosterone increases.

Human chorionic gonadotropin (HGH) is used in the treatment of cryptorchidism. (Chorionic Gonadotropin, Pregnyl) is administered intramuscularly. Dosage: Children under 10 years 500 to 1000 IU, people over 10 years and adults 1500 IU 2 to 3 times a week for 4 weeks. If the result is positive, the treatment is repeated after 3 months.

Unfortunately, the disease recurs in 20 % of the patients even after successful drug treatment.

surgical treatment

Indications for surgery for cryptorchidism

• Tumor of the testicle - true cryptorchidism
• twisting of the spermatic cord
• compression of the testicle
• hernia
• ectopia of the testicle
• Testicular hypotrophy: Impairment of tissue nutrition and reduction of testicular mass.

When cryptorchidism is first diagnosed in a teenage or adult male, the testicle is removed. It is believed that the gland has lost its function and that even if the testicle successfully returns to the scrotum, it will not be able to function normally. There is also an increased risk of developing a testicular tumor.

Contraindications to the operation

One-stage Schumacher-Petrival operation. An incision is made in the inguinal canal to gain access to the testicle, and a second incision is made in the scrotum. The vas deferens is stretched and freed from the peritoneum and the fibrous bands. A clamp is used to position the testicle in the correct position and attach it to the scrotal wall. Both wounds are sewn up.

In case of ectopia or signs of testicular atrophy, the testicle is amputated. During surgery, the surgeon may insert an implant (testicular prosthesis) and perform scrotalplasty to restore the testicle's appearance.

Preparing for cryptorchidism surgery

• Follow-up examination by a therapist to identify chronic concomitant diseases (jaw, tonsillitis, bronchitis) that can lead to postoperative complications.
• Stop taking aspirin and other blood-thinning medications that can cause bleeding for a week before surgery.
• Blood, stool and urine tests.
• Repeat ultrasound or MRI scan to confirm testicle location and condition.
• Consultation with an anesthetist to determine the risks associated with anesthesia.
• Shower the evening before the operation. Adult men should shave their groin hair.
• Last meal in the evening, 8-10 hours before the operation. This is to facilitate the anesthesia of the patient.

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