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. 

·       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 

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)

·     

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.

-Headache

-Seizures

-Positive Kerning and Brudzinski Sign

- Nuchal Rigidity (Stiff Neck)

-Photophobia

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.

         •       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. 

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

- Antimicrobial Therapy

- Reduce increased ICP

- Fever Reduction

- Seizure Control

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.

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

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

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

- Education on spread prevention

- Hand Hygiene

- Protect yourself from insects

- Child will be cranky and need more sleep.

Diagnostic test

• autism Diagnostic observation scheduled

• Autism diagnostic interview

• M-CHAT ( modified checklist for Autism in Toddlers)

Changes in B/P and HR

Respirations are often deep and irregular

PERRLA!

LOC

Patient may display decorticate or decerebate posturing indicating brain damage

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.

1. Alpha-fetoprotein (AFP) test

2. Ultrasound

3. Amniocentesis

4. Xray/MRI/CT scan

Ensure ABC's

Vital sign assessments

Pain assessments and management

Quiet, dimmly-lit environment

Proper positioning

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).

Seatbelt/proper use of carseat in a motor vehicle

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.

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

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.

• 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)

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.

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

• 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

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

Encourage physical therapy & ROM exercises.

Prevent falls & ensure safe mobility.

Support nutrition & monitor for swallowing issues.

Provide emotional support & connect with resources.

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

Maltreatment - TEN4 rule

Do not promise that you won't tell.

Clinical manifestations =

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

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