Dravet Syndrome
Description
● Background:
• A rare and severe epileptic encephalopathy that first manifests in infancy is called Dravet Syndrome (DS).
• Genetics: SCN1A gene mutations affect about 80% of people.
• Features include neurologic impairment, developmental retardation, and refractory seizures.
● Overview of the Patient:
• Age/Sex: male, 2 years old
• The onset of seizures: at two months of age
● Types of seizures:
• Clonic-tonic febrile
• Changing the hemiclonic
• Seizures of absence
• Epilepticus status
➣ Neurological and Developmental Results:
> Up until 18 months, development was initially normal.
> Regression following the onset of seizures
> Worldwide delay in development
> Absence of head control
> No speech or motor activity that is age-appropriate
> Bilateral Babinski response and elevated limb tone
> Incontinence of the urine was observed (potential autonomic involvement)
➣ Investigations:
> Brain MRI: Moderate ventricular dilatation and cerebral atrophy are uncommon findings.
> EEG: Interictal; no noteworthy results.
> Genetic testing confirms the SCN1A mutation.
> Results from the lab:
1. Anemia mild (Hb 9.9 g%).
2. CRP and normal electrolytes.
3. Urine contained cystine crystals; CSF was normal.
➣ Eliminated Differential Diagnosis:
> Seizures that are febrile.
> Syndrome of Lennox-Gastaut (LGS).
> PME, or progressive myoclonic epilepsy.
> Astatic myoclonic epilepsy.
> Epilepsy associated with CDH19.
➣ Diagnosis:
On the basis of prolonged seizures with an early onset ,different kinds of seizures
1. Regression in development.
2. SCN1A mutation that is positive.
3. MRI results (albeit infrequent).
Protocol
● Typical issues in cancer case reports include:
• Bleeding or haemorrhage (particularly after surgery or due to a tumour);
• Adverse effects of chemotherapy, radiation, and immunotherapy;
• Respiratory distress or dyspnoea;
• Pain and symptom burden;
• Anxiety, depression, and emotional distress;
• Nutritional problems or weight loss or cachexia;
• Immunosuppression;
• Poor adherence to treatment or delays;
• Transition of care issues;
• Palliative care requirements or concerns about quality of life.
● Nursing interventions and management (problem-wise):
→ Severe Haemorrhage or Bleeding
➣ Medical management includes blood transfusions, pressure, surgical haemostasis, and coagulation support (plasma, vitamin K).
➣ Nursing interventions:
• Regularly check the wound or surgical site;
• Monitor vital signs (HR, BP, SpO₂).Continue to have IV access for transfusions.Labs to check: INR/PT, platelets, and haemoglobin.
Maintain the patient's composure and steady posture.Keep track of every observation and report it right away.
→ Side Effects of Treatment
• Medical Management:
• Antiemetics, antidiarrheals, mucosal protectants, dosage modifications, medication alterations, steroids, growth hormones, and hydration.
➣ Nursing Interventions:
• Care for the patient's mouth, skin, and hydration;
• Track and record side effects;
• Teach the patient to report complaints as soon as possible.nutrition assistance (speak with a dietitian).
• As directed, provide pre-medications. Coordinate any necessary adjustments with the oncologist.
Respiratory distress or dyspnoea:
Medical treatment includes corticosteroids if inflammation is present, oxygen therapy, bronchodilators, and painkillers. Nursing interventions include: positioning the patient upright (semi-Fowler's) monitoring RR, SpO₂, and breath sounds teaching breathing methods (pursed-lip breathing) using a fan or cold air for comfort monitoringAs directed, provide oxygen. Handling Pain:
➣ Medical Administration:
>NSAIDs, opioids, and adjuvant medications (anticonvulsants, antidepressants)
Nursing interventions include:
➣ employing standardised measures to assess pain; scheduling drugs on a regular basis rather than just PRN; monitoring for side effects and efficacy; and employing non-pharmacological techniques (such as relaxation and heat/cold).Encourage the sufferer to communicate their discomfort.
Psychological Distress (Depression, Anxiety:
➣ Medical Management: Anxiolytics, antidepressants, and psychotherapy
➣ Nursing Interventions: Employ instruments for screening for distress, such as a distress thermometer.Offer active listening and emotional support.Inform the patient and their family about the illness.Consult a counsellor or psychologist.Encourage them to join support groups.
← Care Transition (Home from Hospital)
➣ Medical Management: Give precise medication recommendations and a discharge summary.
Nursing interventions include teaching self-care techniques and identifying symptoms of problems.Schedule follow-up visits.Offer assistance and training to carers.Make arrangements for home health nursing if necessary.Give emergency contact details.
End-of-life/palliative care
➣ Medical Management: >Relieve symptoms, reduce pain, and stop using harsh, ineffective therapies
Nursing interventions include: ➣ Comfort care (positioning, personal hygiene, and emotional support); ➣ Ensuring dignity and respect; ➣ Supporting the family emotionally; ➣ Promoting the expression of final wishes; ➣ Involving the palliative care team.
Notes
For more information visit
10.1002/ccr3.5840
