Congenital Defect of the Genitourinary System

Explain/Define Hypospadias and Epispadias in children

Hypospadias and epispadias are congenital conditions that affect the urethra in children.

Hypospadias:

It occurs when the opening of the urethra is on the underside (underside) of the penis instead of the tip of the penis. This can range from a mild curvature to a more severe form where the opening is close to the scrotum.

Epispadias:

In this condition, the urethral opening is at the top of the penis instead of at the tip of the penis. This is a rarer condition than hypospadias.

Explain the Etiology/cause of the child with the Hypospadias and Epispadias.

• The exact cause is unknown,
• Due to genetic factors,
• Due to hormonal factors,
• Due to environmental factors,
• Due to developmental abnormalities,
• As mother’s age is more than 35 years,
• Due to exposure of the mother to certain types of teratogenic substances during pregnancy,
• Due to the mother’s intake of substances like smoking and alcohol during pregnancy,
• Being a family history.

Explain the types of the Hypospadias And Epispadias

Types of hypospadias are as follows.

1) Glandular hypospadias,
2) Subcoronal (penile) hypospadias,
3) Midshaft (penile) hypospadias,
4)Penoscrotal hypospadias,
5) Perineal hypospadias.

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1) Glandular hypospadias,
In glandular hypospadias the urethral opening is located at the glans penis (tip of the penis). This is the mildest form of hypospadias.

2) Subcoronal (penile) hypospadias,
In subcoronal (penile) hypospadias, the urethral opening is just below the glans penis but still within the coronal sulcus, the groove separating the glans from the shaft of the penis.

3) Midshaft (penile) hypospadias,
Midshaft (penile) hypospadias The urethral opening is along the shaft of the penis, somewhere between the glans and the base of the penis.

4)Penoscrotal hypospadias,
In penoscrotal hypospadias, the urethral opening is between the penis and the scrotum or extends over the scrotum.

5) Perineal hypospadias.
In perineal hypospadias, the urethral opening is located at the perineum (the area between the scrotum and the anus). This is the most severe form of hypospadias.

Types of epispadias are as follows.

1) Glandular epispadias,
2) penile epispadias,
3) Panopubic epispadias

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1) Glandular epispadias,
In glandular epispadias the urethral opening is located on the dorsal aspect (upper side) of the glans penis.

2) penile epispadias,
Penile epispadias The urethral opening is located along the shaft on the dorsal aspect of the penis.

3) Panopubic epispadias
In penopubic epispadias the urethral opening is located on the dorsal aspect of the penis near the pubic bone.

Explain the Clinical manifestation/ Sign and symptoms of the Hypospadias And Epispadias

• having urethral opening abnormalities,
• Abnormal shape of the penis,
• Urinary incontinence,
• Backward flow of urine into the kidney,
• Urinary tract infection,
• Abnormal urine flow.

Explain the Diagnostic evaluation of the Hypospadias And Epispadias

• History taking and physical examination,
• imaging studies,
• ultrasound,
• CTScan,
• Magnetic resonance imaging,
• Urodynamic Studies,
• genetic testing,
• blood test,
• Intravenous pyelogram (IVP),
• Pelvic x-ray

Explain the medical management of the Hypospadias And Epispadias

If the child has a mild condition, no intervention is required, only continuous monitoring of the child.

Providing proper hormonal therapy to the child.

Enlarging the penis by providing hormonal therapy with testosterone to the child prior to some type of surgical procedure so that proper surgical intervention can be done.

Proper monitoring of child’s condition before surgical intervention.

Complete blood test of child before surgical procedure.

Complete urine test of child before surgical procedure.

Perform a complete imaging test of the child.

Proper surgical correction of hypospadias and epispadias.

The aim of surgery is to correct the urethral opening and reconstruct the urethral opening.

Surgical intervention is usually performed to correct the defect.

To provide proper psychological and emotional support to the parents of the child.

Keeping the child under proper close monitoring after surgery.

Explain the Nursing management of the Hypospadias And Epispadias

Preoperative Education

To provide complete education to the parents of the child about the treatment of the child’s condition. Because of this, the anxiety of the child’s parents can be reduced.

To perform all types of pre-operative diagnostic testing of the child.

Proper inspection of new born.

After confirming the diagnosis, providing information about the child’s condition to the parents of the child properly.

Provide complete education to the child’s parents about the child’s condition, its signs and symptoms, and its treatment and surgical procedures.

To provide proper reassurance to parents to accept their child.

Keep the child on NPO.

Provide intravenous fluids to maintain the nutritional status of the child.

Properly maintain the child’s body temperature.

To monitor the child’s vital signs regularly.

Postoperative nursing management

Provide proper postanesthetic care to the child.

Maintain proper aseptic technique to prevent child from infection.

To monitor the child’s vital signs properly.

Keeping the surgical site performed in the child’s body properly clean and maintaining its hygienic condition.

Circulation at the surgical site and color of the site should be properly observed.

The surgical site should be kept properly clean by maintaining aseptic technique and covered by proper dressing.

Observing the child’s urine output.

Assess the child for any other complications like abdominal distention, bleeding or not.

Properly monitoring the child’s fluid and electrolyte levels.

Provide intravenous fluids to properly maintain the nutritional status of the child.

To provide complete education to the child’s parents about the child’s condition.

To provide complete education to the parents about the child’s medication, his hygienic condition, and his diet.

To provide complete education to the parents if the child has to perform any surgery in the future.

Advise parents to maintain proper hygienic condition of child to prevent infection.

Advise parents to keep child’s surgical area properly dry and clean.

Advising parents to provide properly prescribed medication to their child.

Advising parents to follow up regularly.

• Explain/Define Exstrophy of bladder in children.

Bladder exstrophy is a rare congenital condition where the bladder does not develop properly in its normal place. The bladder is inside and exposed to the outside of the body through the abdominal wall. It also often occurs with other abnormalities of the urinary track and pelvic bone.

It is also known as ectopia vesicae i.e. malposition and displacement of the urinary bladder from its normal position in the pelvic cavity.

Exstrophy Means “Turned Inside Out” Bladder Exstrophy is a congenital abnormality of the bladder. This condition usually occurs when the skin of the lower abdominal wall is not properly formed so the bladder is open and exposed to the outside of the body.

Explain the Etiology Exstrophy of bladder in children.

The exact cause is unknown.
Due to genetic factors,
Due to environmental factors,
Due to abnormal development of embryonic cloacal membrane,
Due to birth defect,
Due to environmental factors.

Explain the Clinical manifestation/ sign and symptoms Exstrophy of bladder in children

• The bladder appears on the outside of the body,
• Bladder is red, moist looking,
• Abnormal genital area,
• Urinary symptoms are observed,
• Urinary incontinence,
• Frequent urinary tract infections,
• Difficulty in completely emptying the bladder,
• Finding pelvic deformities,
• Musculoskeletal deformities are observed,
• Psychological impact in the child,
• Ulceration of bladder mucosa,
• Skin excoriation.

Explain the Diagnostic evaluation of Exstrophy of bladder in children.

• History taking and physical examination,
• imaging studies,
• ultrasound,
• voiding cytourethrogram (VCUG),
• Magnetic Resonance Imaging (MRI),
• Cytoscopic examination,
• Intra venous pyelogram (IVP),
• Urodynamic Studies,
• Urogram.

Explain the Surgical management of Exstrophy of bladder in children.

The aim of surgical management of bladder exstrophy in children is to provide a normal position of the bladder, and to provide proper reposition of the pelvic floor and abdominal wall.

Primary closure
In this primary closure, the surgeon provides repositioning of the bladder in the pelvic cavity and then properly closes the abdominal wall. This procedure is usually performed a few days after birth.

Bladder neck reconstruction
In some cases, additional surgery is also performed to reconstruct the bladder neck and urethra and to improve urinary continence and function. In which surgeries like bladder neck reconstruction and bladder neck closure are usually performed.

Pelvic osteotomies
Abnormalities of the pelvic bones are also commonly seen in children with the condition of bladder exstrophy. Which usually impairs pelvic stability and function.

Pelvicosteotomies are usually performed to realign the pelvic bones and improve pelvic support.

Explain the Nursing management of Exstrophy of bladder in children.

Preoperative Nursing Management

To provide proper position to the child.

Provide oxygen to the child.

To provide proper psychological support to the child.

Monitoring the child’s blood oxygen level regularly.

Provide proper protection to the exposed bladder to prevent infection and trauma.

Avoid any irritating cloth and linen on the exposed bladder.

Provide proper supine position and sidelining position to the child.

Provide care to the exposed bladder by maintaining proper aseptic technique.

Provide intravenous fluids to maintain the nutritional status of the child.

Keep the child properly clothed to prevent hypothermia.

Provide proper antibiotic medicine to prevent the child from infection.

Postoperative nursing management

Proper close monitoring of the child.

Continuously monitoring the child’s vital signs.

To continuously monitor the intake output chart of the child.

Provide adequate intravenous fluids to maintain the nutritional status of the child.

Provide adequate respiratory support to the child.

Administer oxygen properly to the child.

Proper ventilation to keep the child’s air passage clear.

Maintaining body temperature of child continuously Avoiding exposure of child to external environment.

Providing a nutritious diet to the child.

Maintain proper hygienic condition to prevent child from infection.

Provide dressings maintaining proper aseptic technique on the operative side.

Daily weight monitoring of child.

Continuously monitoring the child for any complications.

To provide education to the parents to provide adequate care of the child.

Providing complete education to the parents about the child’s condition.

Advising the parents of the child to provide the prescribed medication to the child.

To provide proper psychological support to the parents of the child.

Advising the child’s parents to follow up regularly.

Explain/Define the Phimosis.

Phimosis is a condition in which the foreskin over the penis is tightened and does not retract properly and the gland tightens on the penis. This condition is called phimosis.

This condition is mainly congenital but it can also be seen due to any infection.

Phimosis disease condition causes pain and discomfort during urination and sexual activity.

Explain the Etiology/cause of the Phimosis. (Give reasons for phimosis.)

• Due to congenital deformity.
• Due to any infection and inflammation.
• Due to trauma and injury.
• Due to some type of medical condition.
• Balatinitis xerotica obliterans
• This is a type of chronic and progressive condition in which infection, inflammation and scarring are seen in the foreskin above the glans penis.
• Due to repeated skin infections.
• Due to improper hygienic conditions.
• Due to catheterization.

(Explain the clinical manifestation / sign and symptoms of the Phimosis).

• Swelling.
• Redness.
• Tenderness.
• Purulent discharge.
• Foreskin tightening.
• Pain and discomfort
• Inflammation.
• Recurrent infection.

Explain the diagnostic evaluation of the child with Phimosis.

• history taking and physical examination.
• Urine analysis.
• Blood analysis.
• Swab culture.
• Biopsy.

Explain the medical management of the child with Phimosis.

Provide corticosteroid topical application cream to reduce child’s inflammation.

A circumcision procedure is performed to treat the child’s condition. In this procedure, the foreskin of the glans penis is excised.

Advise the child’s parents to gently stretch the foreskin.

Provide topical antifungal cream to the child.

Provide Topicol antibiotic cream to the child.

Advising parents of child to maintain proper hygienic condition.

Advising parents of child to take regular follow up.

Advising the child’s parents to provide proper medication to the child.

Explain the Nursing management of child with Phimosis.

Provide proper medication to the child.

Advising parents of child to maintain proper hygienic condition.

Advise the child’s parents to apply proper topical medication.

Advising the parents to take regular follow up for the child.

If the child is in pain, provide analgesic medicine.

If the child is in discomfort, provide mild diversional therapy.

Properly assess the child for any type of bleeding or not.

Provide proper emotional support to the child.

Vaseline gauze dressing applied to the child should be changed frequently when soiled.

Giving advice for proper care of the operative area.

Provide proper postoperative care to the child.

Proper communication with other health care personnel for proper care of the child.

To provide complete information to the child’s parents about the disease, its causes, its symptoms and signs, and its treatment.

To provide proper psychological support to child’s family members, caregivers.

Explain/Define Undescended testes Testes (

Undescended testes, also known as “cryptorchidism”, is a condition in which one or both testes fail to move down from the abdomen into the scrotum before both.

This condition can affect the development and function of the testes. This condition is more commonly seen in preterm infants.

Normally the testes are present in the abdominal area of ​​the fetus till 7 months of intrauterine life and the testis descends into the scrotum between 8 and 9 months of intrauterine life.

When due to some type of factor these testes do not descend in the scrotum and the testes remain present in the abdominal area of ​​the newborn, this condition is called undescended testes.

Explain the types of the undescended testes/ Cryptorchidism.

Two types of undescended testes/cryptorchidism
is as follows.

1) Pseudocryptorchidism
2)True cryptorchidism

1) Pseudocryptorchidism

The condition of pseudocryptorchidism occurs when the testis is felt in the inguinal canal or scrotum but retracts back into the groin area when the child is examined. It gives the appearance of an undescended testis, but in reality, the testis is temporarily able to descend into the scrotum.

Pseudocryptorchidism is often due to normal reflexes, such as the cremasteric reflex.

which causes the testes to retract in response to certain stimuli such as cold or touch. Unlike true cryptorchidism, in pseudocryptorchidism, the testes can be manually manipulated into the scrotum and remain there.

2)True cryptorchidism

This condition of true cryptorchidism occurs when one or both testes fail to descend into the scrotum and persist in the undescended testis.

True cryptorchidism can be unilateral (affects only one testis) or bilateral (affects both testes).

True cryptorchidism is usually caused by abnormal development or failure of the testes to descend properly into the scrotum during fetal development.

Thus, pseudocryptorchidism usually involves the testes temporarily retracting into the groin area due to a normal reflex, whereas in true cryptorchidism one or both testes persistently fail to descend into the scrotum.

Explain the Etiology/ cause of the undescended testes/ Cryptorchidism.

• Due to abnormal development,
• Due to hormonal factors,
• Due to genetic factors,
• Due to pre-mature birth,
• Due to maternal factor,
• Due to intrauterine growth restriction,
• Due to certain environmental factors,
• Due to certain medical conditions,
• Due to hypothalamic pituitary gonadal eczema impairment,
• Due to a hereditary condition,
• Due to chromosomal abnormalities.

Explain the clinical manifestation/ sign and symptoms of the undescended testes/ Cryptorchidism.

• Absent testes in the scrotum,
• Feeling of palpable mass and bulge like structure in groin area and inguinal canal,
• The scrotum appears small and empty.
• The scrotum appears asymmetrical,
• future fertility issues,
• Increased risk of testicular cancer,
• Pain and discomfort in the groin area.
• Sterility.

Explain the Diagnostic evaluation of the undescended testes/ Cryptorchidism.

• History taking and physical examination,
• imaging studies,
• ultrasonography,
• Magnetic resonance imaging,
• hormonal testing,
• Laparoscopy.

Explain the medical management of the undescended testes/ Cryptorchidism.

Medical management of undescended testes/cryptorchidism usually depends on the age of the child, the condition of the testes, and its severity.

If the child is young and the testis descends into the scrotum on its own, observe the child properly.

Providing proper hormonal therapy to the child.

In which human chorionic gonadotrophin (HCG) and gonadotrophin releasing hormone (GTRH) help the child in normal testicular descent.

Human Chorionic Gonadotrophin (HCG) Hormone A If Child A,
If less than 1 year, 250 units should be administered.
500 units should be administered if the child is 1 year to 5 years,
And if the child is older than 5 years then provide 1000 units.
It is usually provided twice a week for 5 to 6 weeks. Good response is seen within 1 month of providing this treatment.

Luteinizing hormone releasing hormone (LHRH) is also used as an alternative injection and nasal spray.

Hormonal therapy is usually provided in conditions where there is an abnormality in the descent of the bilateral testes.

Proper surgical management of undescended testis.

The surgery is usually performed after the child is one year old.

Orchidopexy

Orchidopexy is the most common surgical treatment used to treat undescended testes. During this procedure, the testes are brought into the scrotum and secured in place to prevent the testes from re-descending.
Orchidopexy is usually performed before 1 or 2 years of age to optimize outcome and reduce complications.

Laparoscopic surgery

When the position of the testes cannot be detected by physical examination and imaging studies, a laparoscopic procedure is performed to bring the testes into the scrotum.

Orchiectomy

In some cases, when the testes are severely abnormal and there are chances of malignancy, the testes are surgically removed (orchiectomy).

Silastic prosthesis

If the testes are absent, a silastic prosthesis is inserted between the ages of 8 and 10 to prevent emotional upset.

Explain the Nursing management of the undescended testes/ Cryptorchidism.

Preoperative Nursing Management

To provide proper position to the child.

Provide oxygen to the child.

To provide proper psychological support to the child.

Monitoring the child’s blood oxygen level regularly.

Provide proper protection to prevent infection and trauma to the chuck.

To provide complete education to the child’s parents and caregivers about the child’s condition, its causes, symptoms and signs.

Provide proper supine position and sidelining position to the child.

Provide care by maintaining proper aseptic technique of the child.

Provide intravenous fluids to maintain the nutritional status of the child.

Keep the child properly clothed to prevent hypothermia.

Provide proper antibiotic medicine to prevent the child from infection.

Postoperative nursing management

Proper close monitoring of the child.

Continuously monitoring the child’s vital signs.

To continuously monitor the intake output chart of the child.

Provide adequate intravenous fluids to maintain the nutritional status of the child.

Provide adequate respiratory support to the child.

Administer oxygen properly to the child.

Proper ventilation to keep the child’s air passage clear.

Maintaining body temperature of child continuously Avoiding exposure of child to external environment.

Providing a nutritious diet to the child.

Maintain proper hygienic condition to prevent child from infection.

Provide dressings maintaining proper aseptic technique on the operative side.

Daily weight monitoring of child.

Continuously monitoring the child for any complications.

To provide education to the parents to provide adequate care of the child.

Providing complete education to the parents about the child’s condition.

After surgery and maintaining proper traction between the child’s scrotum and the thigh.

Provide continuous rest for seven to ten days after child’s surgery.

Provide proper psychological support to reduce the anxiety of the child and his family members.

Advising the parents of the child to provide the prescribed medication to the child.

To provide proper psychological support to the parents of the child.

Advising the child’s parents to follow up regularly.

Explain/Define Ambiguous genitalia/Hermaphroditism

Ambiguous genitalia is also known as intersexuality disorder and disorder of sexual development (DSD).

This is a condition in which the child’s genital area does not clearly appear to be male or female at birth.

This involves different types of anatomical variations, including the involvement of the genital area in which the child may have both male and female characteristics at birth, or it may not be clearly differentiated into male or female in general.

Hermaphroditism is a condition in which both male and female reproductive organs are present in a child at birth.

Explain the Classification of the Ambiguous genitalia/ Hermaphroditism

1) Female pseudohermaphroditism,

2) Male pseudohermaphroditism,

3) Mixed or dysgenetic gonadal development.

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1) Female pseudohermaphroditism,

In this category, the child has the characteristic 46XX karyotype pattern of a female. This condition is usually congenital adrenal hyperplasia (CAH).

2) Male pseudohermaphroditism,

A child in this category has a 46XY karyotype pattern typical of male and the child has an inborn testosterone error.

3) Mixed or dysgenetic gonadal development.

In this condition, tissues of both ovaries and testes are present in the child.

Explain the Clinical manifestation/ Sign and symptoms of the Ambiguous genitalia/ Hermaphroditism.

• In this condition, the external genital area cannot be differentiated into male and female at the time of birth of the child.
• undescended testes,
• Enlargement of the clitoris,
• The clitoris has the appearance of a penis,
• The labia majora becomes hypertrophied giving a scrotum-like appearance.
• Finding hypospadias,
• Micropenis (penis smaller than normal),
• Gonads (ovaries and testes) are palpable,
• In the male child, the scrotum has a vulva-like appearance because the testis is not present.

Explain the Diagnostic evaluation of the Ambiguous genitalia/ Hermaphroditism.

• History taking and physical examination,
• Head to Toe Proper Examination,
• imaging studies,
• ultrasound,
• computed tomography,
• Magnetic resonance imaging,
• laboratory test,
• blood test,
• hormonal test,
• Testosterone, dihydrotestosterone (DHT),
• Estrogen, follicle-stimulating hormone (FSH), luteinizing hormone (LH), and anti-Müllerian hormone (AMH) testing,
• genetic studies,
• Chromosomal Analysis,
• endoscopic examination,
• vaginogram,
• Intravenous pyelogram (IVP),
• Gonadal biopsy.
• Peripheral blood or bone marrow and buccal smear test.

Explain the management of the Ambiguous genitalia/ Hermaphroditism.

Early diagnosis of ambiguous genitalia/hermaphroditism.

Provide corticosteroids to the child properly.

Providing proper hormonal therapy to the child.

Proper surgical correction of the child’s condition in the first year after the child’s birth, such as genitoplasty followed by vaginoplasty.

Proper steroid therapy should be provided if the child has a condition of infection.

If the child has a condition of dehydration in the first 24 hours, provide 4-8 gm of sodium chloride to treat it.

Surgical construction of the external genital area.

To provide proper psychological support to the parents and family members of the child.

To provide complete education to the parents about the child’s condition, its causes and its treatment.

Advising the parents of the child to follow up regularly.

Explain the Nursing management of the Ambiguous genitalia/ Hermaphroditism.

Preoperative nursing management

To provide proper position to the child.

Provide oxygen to the child.

To provide proper psychological support to the child.

Monitoring the child’s blood oxygen level regularly.

Provide proper protection to prevent infection and trauma to the child.

To provide complete education to the child’s parents and caregivers about the child’s condition, its causes, symptoms and signs.

Provide care by maintaining proper aseptic technique of the child.

Provide intravenous fluids to maintain the nutritional status of the child.

Keeping the child properly clothed to prevent hypothermia.

Provide proper antibiotic medicine to prevent the child from infection.

Postoperative nursing management

Proper close monitoring of the child.

Continuously monitoring the child’s vital signs.

To continuously monitor the intake output chart of the child.

Provide adequate intravenous fluids to maintain the nutritional status of the child.

Provide adequate respiratory support to the child.

Proper oxygen administration to the child.

Proper ventilation to keep the child’s air passage clear.

Maintaining body temperature of child continuously Avoiding exposure of child to external environment.

Providing a nutritious diet to the child.

Maintain proper hygienic condition to prevent child from infection.

Provide dressings maintaining proper aseptic technique on the operative side.

Daily weight monitoring of child.

Continuously monitoring the child for any complications.

To provide education to the parents to provide adequate care of the child.

Providing complete education to the parents about the child’s condition.

Provide proper psychological support to reduce the anxiety of the child and his family members.

Advising the child’s parents to provide the prescribed medication to the child.

To provide proper psychological support to the parents of the child.

Advising the parents of the child to follow up regularly.

Explain/Define Polycystic kidney

‘Polycystic’ means having many cysts present in the kidney. Polycystic kidney in children is a genetic disorder. In which there is growth of multiple cysts in the kidney.

These cysts are fluid field sacs and come in different sizes and numbers. It is also present in one or both kidneys, due to which the size of the kidney is also enlarged and its function is also altered.

Explain the types of the Polycystic kidney disease

There are two types of polycystic kidney disease.

1) Autosomal Dominant Polycystic Kidney Disease (ADPKD),

2) Autosomal Recessive Polycystic Kidney Disease (ARPKD)

1) Autosomal Dominant Polycystic Kidney Disease (ADPKD),

This is the most common form of PKD, which is usually diagnosed in adulthood. However, in rare cases, a child may inherit ADPKD from a parent who has the disease. Its symptoms do not appear until after childhood or adolescence.

2) Autosomal Recessive Polycystic Kidney Disease (ARPKD)

This is a more severe form of PKD that is usually diagnosed in infancy or early childhood.

It is caused by changes in the PKHD1 gene.
It can cause serious complications like kidney failure, high blood pressure and liver complications.

Explain the Etiology/cause of the Polycystic kidney disease

• Due to genetic factors,
• Due to hormonal factors,
• Due to environmental factors,
• Due to congenital anomalies.

Explain the Clinical manifestation/ Sign and symptoms of the Polycystic kidney disease

• Multiple cysts appear in the kidney,
• Abdominal and flank pain,
• high blood pressure,
• Kidneys are enlarged,
• Hematuria (blood in urine),
• Urinary tract infection,
• Stone formation in kidney,
• Renal insufficiency and renal failure.

Explain the Diagnostic evaluation of the Polycystic kidney disease

• History taking and physical examination,
• imaging studies,
• ultrasound,
• Computed tomography scan,
• Magnetic Resonance Imaging,
• genetic testing,
• laboratory test,
• blood test,
• urine test,
• family screening,
• Intra venous pyelogram (IVP),
• Renal angiography.

Explain the management of the Polycystic kidney disease

Continuous monitoring of child’s blood pressure.

Provide analgesic medication if the child is in pain.

Advising the child on nutritious food intake.

Provide low potassium, low sodium and low phosphorus diet.

Provide proper antibiotic medicine to child to treat urinary tract infection of child.

Monitoring the child regularly.

Providing proper genetic counseling to the parents of the child.

Provide proper symptomatic treatment to the child.

To provide proper psychological support to the parents of the child.

Advise the parents of the child to provide medication to the child regularly.

Advising Chinese parents to follow up regularly.