# data[].attributes.body
Down syndrome is a genetic disorder caused by an extra copy of chromosome 21. This can occur in three ways:

1. Trisomy 21 (95% of cases):
This is the most common form, where an individual has three copies of chromosome 21 in every cell of their body instead of the usual two. This occurs due to an error in cell division during meiosis (egg or sperm formation).

2. Translocation Down Syndrome (3% of cases):
In this case, a part or all of chromosome 21 is attached to another chromosome, resulting in an extra copy of chromosome 21 material.

3. Mosaic Down Syndrome (less than 1% of cases):
Only some cells in the body have an extra copy of chromosome 21, while others have the typical two copies.

# data[].attributes.body
Primarily involves an extra copy of chromosome 21 in every cell of the body, also known as trisomy 21, which occurs due to an error in cell division during the formation of sperm or egg cells, leading to abnormal development in the brain and body, causing the characteristic features of Down Syndrome.

# data[].attributes.body
Physical Manifestations:

·       Facial features: Small head, flattened facial profile, almond-shaped eyes that slant upwards, small nose, small mouth, protruding tongue

·       Skeletal: Short stature, short neck, loose joints, small hands and feet, single palmar crease

·       Cardiovascular: Congenital heart defects, such as ventricular septal defects and atrial septal defects

·       Gastrointestinal: Gastroesophageal reflux disease, celiac disease

·       Endocrine: Hypothyroidism, early-onset Alzheimer's disease

Intellectual and Developmental Manifestations:

·       Cognitive impairment: Mild to moderate intellectual disability, difficulties with learning, memory, and problem-solving

·       Speech and language delays: Articulation problems, delayed vocabulary development

·       Motor delays: Poor muscle tone, delayed motor milestones

·       Behavioral challenges: Irritability, impulsivity, anxiety

Other Manifestations:

·       Increased risk of infections: Due to weakened immune system

·       Eye problems: Cataracts, glaucoma

·       Hearing loss: Due to ear infections

·       Sleep apnea: Due to airway obstruction

# data[].attributes.body
Acute inflammation of the meninges and CSF.

# data[].attributes.body
physical, blood tests, and genetic testing

During pregnancy

·      Combined test

A blood test and ultrasound scan are performed between 10 and 14 weeks of pregnancy. The blood test can also be performed at the same time as the 12-week scan.

·      Physical exam

A doctor looks for physical features associated with Down syndrome, such as a short neck, small ears, and a single line across the palm of the hand. ( Please note physical features in PP too)

·

# data[].attributes.body
Organisms enter the body and cross over the blood/brain barrier. Some forms are only transmitted through droplets.

# data[].attributes.body
Aspiration causes pulmonary edema, atelectasis, and airway spasms, causing irreversible damage to the brain after 4 without oxygen, and the heart and lungs after 30 minutes

# data[].attributes.body
Dysfunction of Neurotransmitters (Dopamine and Norepinephrine)

Patho isn’t fully understood

# data[].attributes.body
Is a complex neurodevelopmental condition characterized by persistent deficits in social communication and restricted repetitive behaviors.

# data[].attributes.body
Nursing care for Down syndrome focuses on improving quality of life through individualized care plans. Nurses help people with Down syndrome and their families by providing education, support, and resources.

Nursing interventions

·      Nutrition: Assess swallowing ability and provide guidance on proper feeding

·       Health monitoring: Encourage regular hearing and vision checks

·       Education: Educate parents about Down syndrome and caregiving

·       Emotional support: Provide support and guidance to family caregivers

·       Safety: Initiate safety and infection precautions

·       Daily activities: Help with daily activities and encourage independence

·       Medication: Administer medications as ordered

·       Stress reduction: Help families identify stressors and coping strategies

·

Early diagnosis and intervention are important for the best outcomes.

# data[].attributes.body
A child presents exam findings such as unconsciousness, respiratory distress, abnormal lung sounds, low O2 levels, altered mental status, etc.

# data[].attributes.body
Unknown, but several genes have been suggested to be causative factors.

# data[].attributes.body
-Fever/Chills

-Headache

-Seizures

-Positive Kerning and Brudzinski Sign

- Nuchal Rigidity (Stiff Neck)

-Photophobia

# data[].attributes.body
Spinal Tap/Lumbar Puncture

# data[].attributes.body
Restore oxygen delivery to tissues, monitor for at least 6-8 hours after injury, support the family, and provide patient/parent education on prevention. Prevention can include water safety skills, CPR, life jackets, adult supervision around water, and barriers around water (pool gate).

# data[].attributes.body
The "primary injury" occurs first, at the time of the initial injury.

Acceleration and/or deceleration, and concussion is responsible for most head injuries.

Epidural hematoma occurs between the dura and the skull.

Subdural hematoma occurs between the dura and arachnoid membrane.

# data[].attributes.body
•       Children may need physical, occupational, and speech therapy.

•       Children with Down syndrome can attend regular classrooms, specialized programs, or both.

•       Children with Down syndrome should have their thyroid hormones checked at birth, 6 months, 12 months, and then once a year after that.

•       Children with Down syndrome should have their hearing checked at birth, 6 months, and at least once a year after that.

•       Children with Down syndrome may have vision changes and should see an eye doctor regularly.

•       Children with Down syndrome may have nighttime symptoms and should be screened for sleep apnea.

•       Parents can talk with their child's healthcare provider, other families, and national Down syndrome support agencies.

•       The National Down Syndrome Congress (NDSAN) offers support and information to parents.

•          Mental health professionals can help children with Down syndrome deal with emotions and build coping skills.

# data[].attributes.body
Imbalance in production and absorption of CSF

Patho: impaired absorption of CSF or blockage in ventricles due to malformation, tumor

Etiology: can be inherited genetically or may be associated with developmental disorders (spina bifida or encephalocele)

Manifestations: head enlargement, bulging fontanel, prominent scalp veins, lethargy, high pitched cry, irritability

Diagnosis: CT, MRI

Management: surgical- VP shunt placement

Postoperative care: monitor for shunt malfunction or infection

S/S increased ICP, vomiting, fever, seizures

Teach parents to monitor for above; also, constipation may cause malfunction

# data[].attributes.body
Highly heritable (Genetic accounts for 70%-80% of the risk)

Differences in the structures of the brain (prefrontal cortex / Cerebellum) (Controls attention, impulse control, and executive functioning)

Imbalances in neurotransmitters (Dopamine / Norepinephrine) (These chemicals are involved in attention, motivation, and regulation of behavior)

Fetal exposure to tobacco products

# data[].attributes.body
Caused by falls, motor vehicle accidents, bike injuries and sports injuries.

# data[].attributes.body
- Droplet Precautions

- Antimicrobial Therapy

- Reduce increased ICP

- Fever Reduction

- Seizure Control

# data[].attributes.body
Neurons communicate via electrical impulses, which are normally regulated by excitatory like glutamate and inhibitory neurotransmitters like GABA. In seizure disorders, the balance between these signals is disrupted, leading to uncontrolled electrical activity. Decreased GABAergic activity or GABA receptor dysfunction may fail to inhibit excessive excitation, promoting seizures. Involve both or one hemispheres from the start, leading to widespread effects like loss of consciousness or generalized tonic-clonic convulsions. In chronic epilepsy, long-term changes in neuronal structure like synaptic plasticity or reorganization, can make brain cells more prone to synchrony and lead to recurrent seizures. In some seizure types, inflammation in the brain may increase neuronal excitability, contributing to the development and chronicity of seizures.

# data[].attributes.body
MD is caused by genetic mutations that affect muscle proteins, primarily dystrophin, which is needed for muscle cell stability.

Without dystrophin, muscle fibers become weak, easily damaged, and progressively replaced by fat and fibrous tissue.

Leads to progressive muscle wasting and loss of function.

# data[].attributes.body
Confusion and amnesia are hallmark signs of concussion after an injury.

# data[].attributes.body
Cerebral Palsy is diagnosed by physical exams and brain imaging scans.

The physical exams check for:

-Muscle tone: Doctors feel the muscles in the arms, legs, shoulders, hips, knees, ankles, elbows, and wrists for low tone or spasticity

-Posture: Doctors observe the child's posture

-Deep tendon reflexes: Doctors evaluate the child's deep tendon reflexes

-Motor milestones: Doctors ask about the child's ability to sit, pull to stand, and walk

Brain imaging

-Cranial ultrasound: Uses sound waves to create an image of the brain

-Magnetic resonance imaging (MRI): Uses radio waves and magnetic fields to create a detailed image of the brain

-Computed tomography (CT scan): Uses X-rays to create a detailed image of the brain

Cerebral Palsy Nursing Management of Care includes the following:

-Establish therapeutic communication.

-Enhance self-esteem.

-Offer emotional assistance.

-Increase family support.

-Prevent and protect against injury or harm.

-Prevent deformities.

-Encourage mobility.

-Increase oral fluid intake.

-Manage sleep and rest periods.

-Enhance self-care.

-Facilitate communication.

- Enforce therapeutic measures

# data[].attributes.body
Birth defect in which a fetus's spinal cord does not properly develop.

Happens when a fetus's spinal cord does not develop or close properly while in the womb.

# data[].attributes.body
Educate patient, parent, and siblings on child safety (life jacket, floaties, swim lessons), encourage barriers around the pool, adult supervision, and child ask permission first before getting in a pool or bathtub.

# data[].attributes.body
Etiology: Neural tube defect that occurs when the neural tube fails to close properly during early embryonic development, typically within the first 28 days of pregnancy. This incomplete closure results in defects in the spinal cord and vertebrae. The exact cause is multifactorial, involving a combination of genetic, environmental, and nutritional factors.

# data[].attributes.body
Pathophysiology- occurs when the pressure around the brain increases.

Etiology- brain tumors , head injuries , strokes, bleeding , infections, high blood pressure, falls

Diagnostic- physical exam , medical history, review, eye exam, spinal tap, CT scan , MRI

Management & care- elevate head of the bed, osmotic diuretics ,(mannitol) hypertonic saline, control pain , cluster care, no airway suctioning unless necessary, strict I&O’s

Education- manage head injuries, know when to call provider decrease in consciousness severe headache , changes in vision , control BP , stay hydrated , ensure proper blood flow

Manifestations- headache , N/V, altered LOC, pupillary changes , seizures

# data[].attributes.body
-Prevention with Vaccines

- Education on spread prevention

- Hand Hygiene

- Protect yourself from insects

- Child will be cranky and need more sleep.

# data[].attributes.body
Symptoms must be present in early childhood

Must cause significant impairment in daily functioning

Symptom are not better explained by intellectual disability alone

Diagnostic test

autism Diagnostic observation scheduled

Autism diagnostic interview

M-CHAT ( modified checklist for Autism in Toddlers)

# data[].attributes.body
Can be mild or severe

Children

More pronounced

Aggression, temper tantrums, and emotional outbursts, easily distracted, trouble following instructions/completing tasks, difficulty waiting their turn

Immaturity related to chronological age

Adolescents

Shifts more towards inattention

Struggles with schoolwork, procrastination/organizational difficulties

# data[].attributes.body
Vital signs

Changes in B/P and HR

Respirations are often deep and irregular

PERRLA!

LOC

Patient may display decorticate or decerebate posturing indicating brain damage

# data[].attributes.body
Pathophysiology- this happens in children and teenagers recovering from a viral illness like the flu or chickenpox. This involves and acute-inflammatory encephalopathy and fatty degeneration of the liver. Some of the key mechanisms include: mitochondrial dysfunction, fatty liver, hyperammoniaemia, cerebral edema, and association with aspirin use.

Etiology- This results from aspirin use shortly after a virus and can be caused by the influenza virus or varicella (chickenpox). Some people that are affected more are those who have an underlying genetic defect and are more susceptible.

Diagnostic- Clinical presentation, medical history, laboratory tests (AST, ALT), etc., liver biopsy, CT, MRI, Lumbar puncture

Management- This is a medical emergency and requires hospitalization and monitoring the patient especially the electrolytes and liver function. Keeping the HOB elevated also helped and is the least invasive and avoiding aspirin.

Patient Education- Do not give aspirin to children, recognize early symptoms like vomiting, rapid breathing, lethargy or seizures. Getting vaccinated also helps protect patients from getting viruses that lead to Reye's syndrome. And provide emotional support to patient as this can be scary for them. Help them understand "why" this is happening and provide resources to help family and patient learn about this illness.

# data[].attributes.body
Ensure Safety!

pad side railings

have suction at bed side ready

Suction around mouth but do not to insert anything in mouth

do not restrain patient only protect

prepare to give IV or anal medication.

Know rescue medications

Place bed as low as possible

Find out your patients aura

# data[].attributes.body
Diagnosis:

1. Alpha-fetoprotein (AFP) test

2. Ultrasound

3. Amniocentesis

4. Xray/MRI/CT scan

# data[].attributes.body
Neuro checks (even while sleeping)

Ensure ABC's

Vital sign assessments

Pain assessments and management

Quiet, dimmly-lit environment

Proper positioning

# data[].attributes.body
Progressive muscle weakness (starting in the proximal muscles of the pelvis, thighs, and shoulders).

Delayed motor milestones (ex: difficulty walking, frequent falls, trouble climbing stairs).

Gower’s sign (child uses hands to push on legs to stand up).

Enlarged calf muscles (pseudohypertrophy due to fat accumulation).

Waddling gait and difficulty with balance.

Respiratory weakness (later stages - risk of pneumonia, respiratory failure).

Cardiac involvement (cardiomyopathy in later stages).

Loss of ambulation (usually by early teens).

# data[].attributes.body
Teach the importance of wearing a helmet during bike riding and contact sports

Seatbelt/proper use of carseat in a motor vehicle

# data[].attributes.body
Seizure disorders can be caused by a variety of factors, broadly categorized as structural, metabolic, genetic, and immune-related. Inherited mutations in ion channels, like SCN1A mutations in Dravet syndrome, can lead to epilepsy. These mutations affect the normal function of neurons and increase their excitability. Mutations in voltage-gated ion channels or neurotransmitter receptors are often involved. Traumatic brain injury can cause focal brain damage, leading to focal seizures, and developmental abnormalities, like cortical dysplasia, can create areas of abnormal neuronal firing, leading to seizures. Alterations in potassium, calcium, or magnesium levels can also predispose to seizures. Withdrawal from substances like alcohol, benzodiazepines, or barbiturates can precipitate seizures.

# data[].attributes.body
Doctor needs to 1st determine whether the child’s behavior is age appropriate

There is no single test. Requires several cognitive tests

Provider needs a description of the child’s behavior in home, school, and social situations

To get diagnosed, the child (under 16) must have at least 6 symptoms of inattention/hyperactivity

Symptoms must be present in 2 or more settings (home, school, social situations)

# data[].attributes.body
Edúcate parents on seizure safety

To place patient on their side

DO NOT PLACE ANYTHING IN PATIENTS MOUTH

Keep patient safe and laying down after a seizure as they can be confused in postictal state

Keep medication in secure place

Educate patient on what an aura is and to figure out what their personal aura is if old enough to understand

Educate patient on how to recognize a seizure is beginning

# data[].attributes.body
•Tumors of the CNS are the most common solid tumors in children

A brain tumor is a growth of cells in the brain or near it. Brain tumors can also happen near the tissue. Nearby locations include nerves, the pituitary gland, the pineal gland, and the membranes that cover the surface of the brain. Invasion and destruction of brain tissue by tumor.

# data[].attributes.body
Physical Examination - Observe movement and response to stimuli of the lower extremities, measure head circumference, and exam the fontanelles

Assess for knowledge of the disease - Assess the parents' knowledge and understanding of such a serious disease and a newborn

# data[].attributes.body
Brain tumors can develop from any cell within the cranium, deriving from different nerves, blood vessels, pineal gland & pituitary.

Clinical manifestations = reoccurring headaches (dull, throbbing), vomiting, neuromuscular changes (Loss of balance, clumsiness), behavioral changes (Irritability, decreased appetite, FFT), cranial nerve neuropathy, seizures, and alters in VS.

# data[].attributes.body
Diagnostics are typically based on clinical signs and imaging such as an MRI, CT scan, and diagnostic tissue examined by neuro specialists.

# data[].attributes.body
Nursing Care / Patient Education

Collaborate with the family/school

Encourage consistent care

Ensure medication adherence

Ensure patient has a structured environment

Create a visual schedule

Encourage extracurricular activities (sports, etc.)

Relaxation Techniques (deep breathing)

# data[].attributes.body
Cerebral Palsy is a group of permanent disorders affecting motor movements, communication, cognition, and behavior.

Patho: Anoxia Plays the most significant role in Pathologic brain damage.

Etiology: Birth Asphyxia, Prenatal brain abnormalities.

Patient Education: The chid will need physical therapy to help establish and maintain locomotion, communication, and self help skills. There are many different ways to effectively communicate with your child regardless of their diagnosis find the one that works for you all. The patient will need to change positions frequently to prevent pressure injuries. We need to ensure adequate caloric intake and work with speech therapy before the patient goes home to address any swallowing concerns.

# data[].attributes.body
Treatment depends on the type of tumor and its location. Surgery, radiation therapy, chemotherapy, and targeted therapy are managements available

# data[].attributes.body
Detailed history is essential to determine the type of seizure, triggers, postictal state, and any possible precipitating factors. Family history of seizures or epilepsy is important, as genetic factors may play a role. Duration, frequency, and patterns of the seizures help classify them. EEG is crucial in diagnosing epilepsy. It records the electrical activity of the brain, identifying abnormal brain waves associated with seizures. MRI is used to detect structural causes like tumors, cortical malformations, or hippocampus sclerosis. Diagnosis relies on a thorough clinical history, neurological examination, EEG, and neuro-imaging, with further tests like lab work and genetic testing as needed based on suspected cause.

# data[].attributes.body
Creatine Kinase (CK) levels - Elevated due to muscle breakdown.

Genetic testing - Identifies dystrophin gene mutations.

Muscle biopsy - Shows absence or deficiency of dystrophin.

Electromyography (EMG) - Shows muscle weakness of myopathic origin.

Echocardiogram/ECG - To monitor cardiac function

# data[].attributes.body
Nursing assessment

Developmental & Behavioral assessment

Evaluate social, communication, and behavioral patterns

Medical & Neurological history

Family of ASD or neurodevelopmental disorders

Functional and Educational needs

Assess daily living skills, self care abilities

Nursing interventions and management

Communication support - use clear, simple, concrete language

Behavioral and emotional support

Establish routines to reduce anxiety and stress

Safety considerations

# data[].attributes.body
Head trauma - damage caused by shearing forces in head from violent shaking

Maltreatment - failure of guardian to provide basic needs and adequate care, or deliberate infliction of physical injury

# data[].attributes.body
Monitor breathing & heart function.

Encourage physical therapy & ROM exercises.

Prevent falls & ensure safe mobility.

Support nutrition & monitor for swallowing issues.

Provide emotional support & connect with resources.

# data[].attributes.body
Education for patients, caregivers, and families is essential for managing ASD effectively. It should focus on the understanding the condition, promoting daily life skills, accessing resources, and improving overall quality of life.

# data[].attributes.body
Teach about early signs of urologist, orthopedic, and neurosurgical issues.

Teach how to monitor for pain and changes in pain.

Teach how to get around using crutches, braces, or wheelchair.

Teach about adaptive physical and recreational activities.

Teach when to call for emergency

# data[].attributes.body
Head trauma - often no external injuries are present. Medical attention is sought for apnea, irritability, lethargy, and seizures.

Maltreatment - TEN4 rule

# data[].attributes.body
Give the patient a safe, private space to talk and share about their experience.

Do not promise that you won't tell.

# data[].attributes.body
Brain tumors can develop from any cell within the cranium, possibly deriving from cranial nerves, blood vessels, pineal gland, and pituitary.

Clinical manifestations =

Reoccurring headaches (dull, throbbing) , vomiting, neuromuscular changes such as incoordination or clumsiness, cranial nerve neuropathy, vital sign changes, seizures, and ICP.

# data[].attributes.body
Diagnosis is typically based on clinical signs and diagnostic imaging (MRI, CT scan, electroencephalography).

# data[].attributes.body
Management depends on the type of tumor and the location of it. Surgery, radiation therapy, chemotherapy, and targeted therapy can be used. Surgery will be performed to remove most or all of the tumor.

Establishing baseline data is vital for comparing preop and postop changes and will be essential for continuing care after surgery.

# data[].attributes.body
Children will need a short explanation of how they may feel after surgery and where it will occur. Parents need similar explanations before hand like what special equipment equipment will be used in the ICU, dressings, and what to expect for the child’s behavior. It is not unusual for the child to be lethargic a few days after surgery. Nurses should participate in preoperative conferences with the physician and parents.

# data[].attributes.body
Expect muscle decline & complications.

Use respiratory aids (BiPAP, spirometry).

Follow up with heart check-ups.

Encourage safe activity but avoid overexertion.

Consider genetic counseling.

Take medications as prescribed (ex: steroids to slow progression).