peds 3

Legg-Calve Perthes Disease

  • Definition: A condition characterized by limited blood flow to the femoral head leading to tissue death, primarily observed in males aged 4-8.

  • Symptoms:

    • Painless limp

    • Hip pain and stiffness

    • Decrease in hip range of motion (ROM)

    • Resulting in shorter leg on one side

  • Genetic Factors: Not a genetic condition, though it is more common in males.

  • Diagnosis:

    • Imaging studies such as X-rays, CT scans, or MRIs.

    • Ortolani test used for pediatric assessment.

  • Treatment Options:

    • Activity restriction to prevent further damage

    • Non-Steroidal Anti-Inflammatory Drugs (NSAIDs) for pain management

    • Physical therapy to improve range of motion and strength

    • Surgical options like osteotomy may be necessary in severe cases

    • Limit weight-bearing activities to ensure rest

    • Use of braces, casts, or box extension traction to maintain proper positioning and avoid pressure wounds

Club Foot (Talipes Equinovarus)

  • Definition: A congenital deformity causing the foot to turn inward.

  • Risk Factors: Family history, maternal health issues, gestational diabetes.

  • Prevalence: More common in males than females.

  • Symptoms:

    • The affected foot is turned inward; calf muscle may appear smaller.

  • Diagnosis: Visual inspection, ultrasound in pregnancy.

  • Treatment Approach:

    • Serial casting followed by bracing to correct foot positioning.

    • Compliance with bracing emphasized in family education.

Osteogenesis Imperfecta (OI)

  • Definition: A genetic disorder resulting from improper synthesis of collagen, leading to brittle bones.

  • Symptoms:

    • Brittle bones leading to deformities and frequent fractures

    • Blue sclera (bluish tint in the whites of the eyes)

    • Short stature

    • Hearing loss

  • Diagnosis:

    • Imaging studies such as X-rays, CT scans, or MRIs.

    • Bone biopsy for definitive diagnosis.

  • Treatment:

    • No cure, treatment focuses on supportive measures:

    • Bisphosphonates to strengthen bones

    • Bracing and splinting

    • Surgery for corrections

    • Physical and Occupational Therapy (PT/OT)

    • Assistive devices for mobility.

  • Education: Instruct caregivers to handle the child gently to prevent fractures.

Rickets

  • Definition: A degenerative bone disease resulting from vitamin D deficiency leading to bone deformities.

  • Pathophysiology: Insufficient absorption of calcium due to inadequate vitamin D levels.

  • Causes: Lack of sunlight exposure, dietary deficiencies, and certain disorders affecting vitamin D metabolism (such as celiac disease or cystic fibrosis).

  • Symptoms:

    • Bone deformities such as bowed legs and knocked knees

    • Increased alkaline phosphatase levels

    • Decreased vitamin D levels.

  • Treatment Strategies:

    • Vitamin D supplementation

    • Increase sun exposure

    • Dietary modifications to include vitamin D-rich foods.

Down Syndrome (Trisomy 21)

  • Definition: Genetic disorder caused by the presence of an extra copy of chromosome 21, leading to physical and developmental delays.

  • Risk Factors: Family history and advanced age of parents.

  • Symptoms: Physical characteristics include:

    • Broad, flat nose

    • Low-set ears

    • Protruding tongue

    • Single, uninterrupted palmar crease.

  • Associated Conditions: Gastrointestinal disorders, gastroesophageal reflux disease (GERD), celiac disease, constipation, seizures, hearing and vision problems, congenital heart defects, and intellectual disabilities.

  • Diagnosis: Prenatal testing and screening procedures.

  • Treatment: Management of symptoms involving specialists such as GI, cardiology, PT/OT, and speech therapy.

  • Nursing Considerations: Provide support to the family and offer education and counseling, including support groups.

Fragile X Syndrome

  • Definition: An X-linked dominant genetic disorder caused by a mutation on the X chromosome.

  • Prevalence: More severe symptoms in males compared to females.

  • Physical Features:

    • Long face

    • Prominent forehead

    • Protruding ears.

  • Cognitive Symptoms:

    • Impaired cognitive function

    • Speech difficulties

    • Poor eye contact

    • Hyperactivity.

  • Diagnosis: Prenatal screening and genetic testing.

  • Treatment: Managing symptoms using medications like antidepressants, antipsychotics, and ADHD medications.

  • Nursing Care: Referrals to speech, behavioral, and occupational therapy.

Duchenne Muscular Dystrophy (DMD)

  • Definition: A progressive, degenerative neuromuscular disorder caused by genetic mutation; primarily affects males due to X-linked recessive inheritance.

  • Onset: Typically diagnosed between ages 3-5 years old (preschool age).

  • Symptoms:

    • Delayed motor movement

    • Muscle weakness

    • Waddling gait

    • Cognitive impairment may occur.

    • Speech difficulties

  • Diagnosis: Genetic testing to confirm mutations.

  • Laboratory Findings: Increased creatine kinase (CK) levels.

  • Treatment Options:

    • Palliative care, symptom management as disease persists

    • Children often succumb to respiratory muscle weakness in their 20s.

  • General Effects: Condition causes fat tissue to replace muscle in lower limbs; life expectancy around 15-30 years; risk of obesity, scoliosis, infections, and digestive issues.

Other Forms of Muscular Dystrophy

  • Facioscapulohumeral Muscular Dystrophy:

    • Autosomal dominant inherited disorder

    • Age Onset: Early adolescence

    • Life expectancy: Normal, slow progression of the disease.

  • Limb Girdle Muscular Dystrophy:

    • Age Onset: Ages 12 and above

    • Symptoms affect walking; hand positioning may be abnormal.

    • Mild cognitive delays may also be present.

  • Diagnoses: Takes into account lab tests showing elevated CK, polymerase chain reaction for mutation identification, genetic analysis, muscle biopsy, and electromyography (EMG).

Hip Dysplasia

  • Definition: A condition involving dislocation or subluxation of the hip joint where the head of the femur does not properly fit into the acetabulum of the pelvis.

  • Symptoms:

    • Dislocation, where one leg appears longer than the other.

    • Subluxation, where the femoral head is partially dislocated.

  • Diagnostic Tests:

    • Barlow's test helps to identify hip dysplasia.

  • Treatment:

    • Pavlik harness to maintain hip abduction.

Spina Bifida

  • Definition: A neural tube defect caused by genetic predisposition.

  • Risk Factors: Vitamin B12/folic acid deficiency, malnutrition, or medications that block folic acid absorption.

  • Types of Spina Bifida:

    • Occulta:

    • Mild form with the spine remaining inside while a protrusion can be seen.

    • Symptoms may include indentations or discoloration on the skin overlying the spine.

    • Meningocele:

    • Presence of a sac containing spinal fluid outside the body; may lead to reduced motor function and sensation in extremities.

    • Cystica:

    • Severe form where the spinal protrusion includes nerve tissue; associated with lack of bowel/bladder control, flaccid muscles, and absent deep tendon reflexes.

  • Diagnosis and Testing: Screening is often done during the mother's second trimester and assessed upon birth.

Cerebral Palsy

  • Definition: A group of disorders affecting movement and muscle tone, often due to brain damage or maldevelopment.

  • Symptoms:

    • Paralysis, abnormal sensation, involuntary tremors are common presentations.

    • Newborns may exhibit poor reflexes.

  • Causes/Risk Factors: Maternal factors such as drug use, malnutrition, infections like meningitis, excessive bleeding, and complications (HELLP syndrome, syphilis, trauma) can contribute to the risk.

  • Congenital or acquired forms exist; also linked to genetic mutations, chromosomal anomalies, oxygen deprivation, and low birth weight.

  • Clinical Presentation: Poor sucking and gag reflex, hyperflexed limbs, and poor vision are observed.

  • Types of Cerebral Palsy:

    • Spastic: Hypertonic muscles leading to muscle spasms and gait issues.

    • Dyskinetic: Involuntary movement difficulties and abnormal posturing.

    • Ataxic: Lack of coordination and purposeful movement.

  • Nursing Considerations: Promote activities of daily living (ADLs), encourage passive ROM, and follow prescribed medications (e.g., magnesium and Ardika).

  • Diagnostic Procedures: Include labs, neurological assessments, MRI scans, EEGs, and ultrasounds.

Seizures

  • Description: Sudden, uncontrolled electrical disturbances in the brain causing convulsions, loss of consciousness, or altered awareness.

  • Causes: Low sodium levels or status epilepticus (seizures lasting more than 5 minutes).

  • Medications for Management:

    • Valproic acid (Depakote) is used at home for emergency seizure control.

    • Keppra (levetiracetam) and Diazepam (Valium) are also options.

    • Gabapentin is used to manage neurological pain and mitigate seizure activity, especially during withdrawal.

  • Febrile Seizures: Commonly start when fever reaches 102°F, with the highest risk between 6 months and 5 years of age.

  • Connection to Illness: Seizures can arise from infectious diseases.

Marfan Syndrome

  • Definition: An inherited genetic disorder affecting connective tissues that support and anchor organs and structures in the body.

  • Physical Characteristics: Patients often present as tall with long limbs, and features may include:

    • Tall, thin stature

    • Long arms, legs, fingers, and toes

    • Heart murmurs due to aortic involvement

    • Protruding breastbone

    • Abnormal spinal curvature (scoliosis).

  • Aortic Implications: The aorta may require preventative surgery to repair defects.

  • Diagnosis: Assessed via echocardiogram, CT, MRI, eye examinations, and genetic testing.

  • Treatment: Focuses on managing symptoms, including medications to control blood pressure, repair of the aorta, scoliosis treatment, and eye surgeries.

  • Nursing Actions: Monitor for signs of aortic aneurysm or dissection (notably, severe chest pain), and manage medications effectively.

  • Education: Advise patients to avoid high-intensity sports and consider orthopedic footwear for scoliosis management.

Dwarfism

  • Definition: A genetic condition characterized by short stature, diagnosed before birth through ultrasound.

  • Types:

    • Disproportionate dwarfism: Some body parts are smaller than others.

    • Proportionate dwarfism: All body parts are uniformly small.

  • Causes: Often related to growth hormone deficiencies.

  • Symptoms: Bowed legs and limited mobility at the elbows; head may be relatively large compared to the body.

  • Typical Height: Adults with dwarfism typically grow 4'10" or less.

  • Treatment: Growth hormone therapy can aid development.

  • Education: Patients typically experience growth within 6-8 weeks of treatment initiation; routine follow-ups with an endocrinologist and regular X-rays to monitor progress are necessary.

Fractures

  • Definition: A break in bone integrity commonly treated with methods contingent on the fracture's nature.

  • Open Reduction with Internal Fixation:

    • Use of pins, plates, screws, or rods to stabilize bone alignment internally.

  • Nursing Considerations:

    • Conduct neurovascular checks frequently

    • Assess pain levels, sensation, skin temperature, color, and capillary refill time.

    • Follow the 5 Ps of assessment: Pain, Pulse, Pallor, Paresthesia, Paralysis.

Leukemia

  • Definition: A type of cancer affecting the body's blood-forming tissues, primarily the bone marrow, which produces excessive abnormal white blood cells (WBCs) that do not function correctly.

  • Symptoms: Include fever and chills, fatigue, unexplained weight loss, swollen lymph nodes, enlarged liver/spleen, and bone pain/tenderness.

  • Risk Factors: Previous cancer therapy, genetic disorders, exposure to certain chemicals, smoking, and a family history of the disease.

  • Diagnosis: Typically confirmed through physical examination and blood tests, supplemented by bone marrow testing.

  • Treatment: Includes chemotherapy, targeted therapy, radiation, bone marrow transplant, and immunotherapy.

Lymphoma

  • Defined as cancer that originates in the lymphatic system.

  • Hodgkin’s Lymphoma:

    • Characterized by Reed-Sternberg cells (large abnormal lymphocytes).

    • Typically starts in the lymph nodes of the chest, neck, or armpits

    • Spread is predictable, making it relatively easier to diagnose.

  • Non-Hodgkin’s Lymphoma:

    • Can arise from various parts of the body, making it harder to detect.

Sickle Cell Disease

  • Definition: An inherited blood disorder where red blood cells assume a sickle shape, leading to blockages in blood flow.

  • Onset: Symptoms can emerge around 6 months of age.

  • Symptoms:

    • Fatigue and anemia

    • Episodes of severe pain

    • Swelling of hands and feet (dactylitis)

    • Increased susceptibility to infections

    • Delayed growth or puberty

    • Vision problems.

  • Diagnosis: Through blood tests, also included in newborn screening protocols, can be confirmed with amniotic fluid sampling.

  • Treatment: Focuses on pain management, prevention of complications through medication and regular blood transfusions.

  • Patient Education: Importance of infection prevention strategies discussed.

Hemophilia

  • Definition: A genetic disorder characterized by the risk of excessive bleeding due to a deficiency in specific clotting factors.

  • Inheritance: Women may carry the trait, but men typically exhibit symptoms.

  • Historical Context: The royal family notably illustrated the implications of hemophilia due to incestuous genetic factors, exacerbating its prevalence.