Congenital Disorder
Medications

Spina bifida is considered a neural tube defect that occurs during early in-utero foetal development. The baby’s neural tube fails to develop in the baby’s spinal cord. The tube will not close completely. This condition can lead to a diverse range of impairments that include paralysis, sensory loss, and failure to control the bowels or bladder. Spina bifida is typically categorized into three types: spina bifida occulta, meningocele, and myelomeningocele. The severity and symptoms vary depending on which type of spina bifida the baby is born with. Treatment for spina bifida involves surgical interventions, specialized medical care, physical therapy, and assistive devices to enhance mobility and quality of life.

In the management of congenital disorders such as cleft lip, fragile X syndrome, and spina bifida, medications play a very important role. While medications cannot cure these genetic conditions, they can help ease the baby’s symptoms, manage severe complications, and improve the quality of life.

Medications Used to Treat Congenital Disorders

Cleft Lip:

• Antibiotics: Antibiotics may be prescribed to prevent or treat infections, particularly after surgical repair of the cleft lip.
• Analgesics: Pain medications, such as acetaminophen or nonsteroidal anti-inflammatory drugs (NSAIDs), are often used to manage post-operative pain.
• Anti-reflux medications: In some cases, youngsters with cleft lip may experience gastroesophageal reflux, and medications like proton pump inhibitors (PPIs) or H2 blockers may be prescribed to reduce acid reflux.

Fragile X Syndrome

• Stimulant Medications: Stimulant medications, such as methylphenidate (Ritalin) or amphetamines, may be prescribed to manage symptoms of attention deficit hyperactivity disorder (ADHD) that often co-occur with fragile X syndrome.
• Selective Serotonin Reuptake Inhibitors (SSRIs): SSRIs like fluoxetine (Prozac) or sertraline (Zoloft) may be used to treat symptoms of anxiety and depression that can be needed for those with fragile X syndrome.
• Antipsychotic Medications: Atypical antipsychotic medications, such as aripiprazole (Abilify) or risperidone (Risperdal), might be prescribed to manage behavioural challenges associated with fragile X syndrome.

Spina Bifida

• Folic Acid: Folic acid supplementation is recommended to pregnant women before conception and during early pregnancy to reduce the risk of neural tube defects, including spina bifida.
• Anticholinergic Medications: Anticholinergic medications like oxybutynin or tolterodine may be used to manage bladder dysfunction and reduce urinary incontinence in individuals with spina bifida.
• Pain Medications: Depending on the severity of symptoms, pain medications such as non-opioid analgesics or opioids might be given to manage ongoing pain associated with spina bifida.
• Muscle Relaxants: Muscle relaxants like baclofen may be prescribed to reduce muscle spasticity and improve mobility in individuals with spina bifida.

Side Effects

Cleft Lip

• Antibiotics: Common side effects of antibiotics include stomach issues such as nausea, vomiting, and chronic diarrhoea. Allergic reactions may also occur, like rash, itching, or difficulty breathing.
• Analgesics: Nonsteroidal anti-inflammatory drugs (NSAIDs) can sometimes cause stomach irritation, heartburn, or ulcers.
• Anti-reflux medications: Proton pump inhibitors (PPIs) and H2 blockers may cause headaches, nausea, vomiting, diarrhoea, and, in rare cases, an increased risk of certain infections or fractures with long-term use.

Fragile X Syndrome

• Stimulant Medications: Common side effects of these medications include appetite suppression, difficulty sleeping, irritability, and increased heart rate or blood pressure. It is essential to monitor growth and cardiac health while on these medications.
• Selective Serotonin Reuptake Inhibitors (SSRIs): SSRIs can cause side effects such as nausea, diarrhoea, drowsiness, sexual dysfunction, and changes in appetite. In rare cases, they may also produce suicidal thoughts, especially in children and adolescents.
• Antipsychotic Medications: Atypical antipsychotics may lead to sleepiness, gained weight, metabolic variations, and movement disorders. Regular monitoring of metabolic levels, such as the level of sugar and fat in the blood stream, is important.

Spina Bifida

• Folic Acid: Folic acid is generally well-tolerated, and side effects are uncommon. However, in some cases, high doses of folic acid can cause stomach issues like nausea, bloating, or gas.
• Anticholinergic Medications: Anticholinergic medications may cause dry mouth, constipation, blurry vision, or the inability to empty the bladder and kidneys.
• Pain Medications: Pain medications, especially opioids, can lead to side effects such as sleepiness, constipation, nausea, and potential addiction.
• Muscle Relaxants: Common side effects of muscle relaxants include sleepiness, dizziness, weakness, and dry mouth.

Infant responses to medications can vary compared to adults so always consult with your doctor if your baby should experience any side effects.

Conclusion

Congenital disorders such as cleft lip, fragile X syndrome, and spina bifida present unique challenges that require specialized medications and care. Babies respond differently to medications and may experience varying side effects. Regular evaluations, adjustments in dosages, and discussions about potential risks and benefits are always needed.

Medications provide valuable support in managing the symptoms and complications of cleft lip, fragile X syndrome, and spina bifida.