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Cerebral Palsy

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Description: Cerebral palsy is a group of permanent movement disorders that appear in early childhood due to brain damage before, during, or shortly after birth.
Type: Cerebral palsy is primarily a non-progressive neurological disorder that affects movement and muscle tone. It is not typically characterized by genetic transmission. Most cases are due to factors such as prenatal injuries, birth complications, or postnatal injuries that affect brain development. However, there are rare instances where genetic factors may contribute, but these are not the primary cause for the majority of cerebral palsy cases.
Signs And Symptoms: Cerebral palsy is defined as "a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to non-progressive disturbances that occurred in the developing fetal or infant brain." While movement problems are the central feature of CP, difficulties with thinking, learning, feeling, communication and behavior often co-occur, with 28% having epilepsy, 58% having difficulties with communication, at least 42% having problems with their vision, and 23–56% having learning disabilities. Muscle contractions in people with cerebral palsy are commonly thought to arise from overactivation.Cerebral palsy is characterized by abnormal muscle tone, reflexes, or motor development and coordination. The neurological lesion is primary and permanent while orthopedic manifestations are secondary and progressive. In cerebral palsy unequal growth between muscle-tendon units and bone eventually leads to bone and joint deformities. At first, deformities are dynamic. Over time, deformities tend to become static, and joint contractures develop. Deformities in general and static deformities in specific (joint contractures) cause increasing gait difficulties in the form of tip-toeing gait, due to tightness of the Achilles tendon, and scissoring gait, due to tightness of the hip adductors. These gait patterns are among the most common gait abnormalities in children with cerebral palsy. However, orthopaedic manifestations of cerebral palsy are diverse. Additionally, crouch gait (also described as knee flexion gait) is prevalent among children who possess the ability to walk. The effects of cerebral palsy fall on a continuum of motor dysfunction, which may range from slight clumsiness at the mild end of the spectrum to impairments so severe that they render coordinated movement virtually impossible at the other end of the spectrum. Although most people with CP have problems with increased muscle tone, some have normal or low muscle tone. High muscle tone can either be due to spasticity or dystonia.Babies born with severe cerebral palsy often have irregular posture; their bodies may be either very floppy or very stiff. Birth defects, such as spinal curvature, a small jawbone, or a small head sometimes occur along with CP. Symptoms may appear or change as a child gets older. Babies born with cerebral palsy do not immediately present with symptoms. Classically, CP becomes evident when the baby reaches the developmental stage at 6 to 9 months and is starting to mobilise, where preferential use of limbs, asymmetry, or gross motor developmental delay is seen.Drooling is common among children with cerebral palsy, which can have a variety of impacts including social rejection, impaired speaking, damage to clothing and books, and mouth infections. It can additionally cause choking.An average of 55.5% of people with cerebral palsy experience lower urinary tract symptoms, more commonly excessive storage issues than voiding issues. Those with voiding issues and pelvic floor overactivity can deteriorate as adults and experience upper urinary tract dysfunction.Children with CP may also have sensory processing issues. Adults with cerebral palsy have a higher risk of respiratory failure.
Prognosis: CP is not a progressive disorder (meaning the brain damage does not worsen), but the symptoms can become more severe over time. A person with the disorder may improve somewhat during childhood if he or she receives extensive care, but once bones and musculature become more established, orthopedic surgery may be required. People with CP can have varying degrees of cognitive impairment or none whatsoever. The full intellectual potential of a child born with CP is often not known until the child starts school. People with CP are more likely to have learning disorders but have normal intelligence. Intellectual level among people with CP varies from genius to intellectually disabled, as it does in the general population, and experts have stated that it is important not to underestimate the capabilities of a person with CP and to give them every opportunity to learn.The ability to live independently with CP varies widely, depending partly on the severity of each person's impairment and partly on the capability of each person to self-manage the logistics of life. Some individuals with CP require personal assistant services for all activities of daily living. Others only need assistance with certain activities, and still others do not require any physical assistance. But regardless of the severity of a person's physical impairment, a person's ability to live independently often depends primarily on the person's capacity to manage the physical realities of his or her life autonomously. In some cases, people with CP recruit, hire, and manage a staff of personal care assistants (PCAs). PCAs facilitate the independence of their employers by assisting them with their daily personal needs in a way that allows them to maintain control over their lives.Puberty in young adults with cerebral palsy may be precocious or delayed. Delayed puberty is thought to be a consequence of nutritional deficiencies. There is currently no evidence that CP affects fertility, although some of the secondary symptoms have been shown to affect sexual desire and performance. Adults with CP were less likely to get routine reproductive health screening as of 2005. Gynecological examinations may have to be performed under anesthesia due to spasticity, and equipment is often not accessible. Breast self-examination may be difficult, so partners or carers may have to perform it. Men with CP have higher levels of cryptorchidism at the age of 21.CP can significantly reduce a person's life expectancy, depending on the severity of their condition and the quality of care they receive. 5–10% of children with CP die in childhood, particularly where seizures and intellectual disability also affect the child. The ability to ambulate, roll, and self-feed has been associated with increased life expectancy. While there is a lot of variation in how CP affects people, it has been found that "independent gross motor functional ability is a very strong determinant of life expectancy". According to the Australian Bureau of Statistics, in 2014, 104 Australians died of cerebral palsy. The most common causes of death in CP are related to respiratory causes, but in middle age cardiovascular issues and neoplastic disorders become more prominent.
Onset: Cerebral palsy typically manifests in early childhood, with most signs and symptoms becoming apparent before the age of three. It is often caused by brain damage that occurs before, during, or shortly after birth. The exact timing can vary, with some children showing signs immediately, while in others, developmental delays become noticeable later.
Prevalence: The prevalence of cerebral palsy is estimated to be approximately 2 to 3 per 1,000 live births globally.
Epidemiology: Cerebral palsy occurs in about 2.1 per 1000 live births. In those born at term rates are lower at 1 per 1000 live births. Within a population it may occur more often in poorer people. The rate is higher in males than in females; in Europe it is 1.3 times more common in males.There was a "moderate, but significant" rise in the prevalence of CP between the 1970s and 1990s. This is thought to be due to a rise in low birth weight of infants and the increased survival rate of these infants. The increased survival rate of infants with CP in the 1970s and 80s may be indirectly due to the disability rights movement challenging perspectives around the worth of infants with a disability, as well as the Baby Doe Law. Between 1990 and 2003, rates of cerebral palsy remained the same.As of 2005, advances in the care of pregnant mothers and their babies did not result in a noticeable decrease in CP. This is generally attributed to medical advances in areas related to the care of premature babies (which results in a greater survival rate). Only the introduction of quality medical care to locations with less-than-adequate medical care has shown any decreases. The incidence of CP increases with premature or very low-weight babies regardless of the quality of care. As of 2016, there is a suggestion that both incidence and severity are slightly decreasing – more research is needed to find out if this is significant, and if so, which interventions are effective. It has been found that high-income countries have lower rates of children born with cerebral palsy than low or middle-income countries.Prevalence of cerebral palsy is best calculated around the school entry age of about six years; the prevalence in the U.S. is estimated to be 2.4 out of 1000 children.
Intractability: Cerebral palsy is generally considered intractable in the sense that there is no cure for the condition. It is a lifelong disorder that affects movement and muscle tone or posture due to damage to the developing brain. However, various treatments and therapies can significantly improve quality of life and functional abilities. These interventions may include physical therapy, occupational therapy, speech therapy, medications, and sometimes surgical procedures. Early and ongoing treatment can help manage symptoms and enhance independence.
Disease Severity: Cerebral palsy (CP) is a neurological disorder that affects movement, muscle tone, and posture. The severity of cerebral palsy can vary widely among individuals, ranging from mild to severe. Some individuals may have minor motor skill impairments, while others may experience significant physical and cognitive challenges. The severity is often classified based on factors such as motor function, the extent of movement limitations, and the need for assistive devices.
Healthcare Professionals: Disease Ontology ID - DOID:1969
Pathophysiology: Cerebral palsy (CP) is primarily a disorder of movement and posture resulting from a non-progressive lesion or abnormality in the developing brain. The pathophysiology of CP involves several key aspects:

1. **Brain Injury or Malformation:** The brain injury leading to CP can occur during the prenatal period, perinatally, or in early infancy. Common causes include hypoxic-ischemic encephalopathy, intracranial hemorrhage, infections (such as meningitis or encephalitis), and brain malformations.

2. **Disrupted Neural Connections:** The affected brain regions typically involve the motor cortex, basal ganglia, cerebellum, and their connections. Damage to these areas disrupts normal muscle coordination and control.

3. **Neuroinflammation and Excitotoxicity:** An inflammatory response and the release of excitatory neurotransmitters can exacerbate neuronal injury. This process may lead to additional neural damage beyond the initial insult.

4. **Impaired Synaptogenesis:** Proper formation of synapses, critical for motor learning and control, can be impaired, leading to long-term motor deficits.

5. **Neuronal and Axonal Damage:** Damage to neurons and axons can result in abnormal muscle tone (spasticity, dyskinesia, ataxia), reflexes, and motor skills.

Overall, the primary pathophysiological mechanisms in CP center on early brain injury or malformation, leading to lasting impairment in motor function due to disrupted neuronal pathways and neuroinflammation.
Carrier Status: Cerebral palsy is primarily a non-genetic condition resulting from brain injury or abnormal brain development before, during, or shortly after birth. There is no "carrier status" for cerebral palsy because it isn't inherited in a traditional genetic sense. While rare genetic factors could contribute to the risk, cerebral palsy is generally not something one can carry and pass on genetically in the manner of recessive genetic disorders.
Mechanism: Cerebral palsy (CP) is primarily caused by abnormal brain development or damage to the developing brain, affecting a person's ability to control their muscles. The exact mechanisms can vary, but commonly involved factors include:

**Mechanism:**
- **Prenatal**: Infection, maternal health issues, or genetic factors affecting brain development.
- **Perinatal**: Birth asphyxia, prematurity, or complications during delivery.
- **Postnatal**: Infections, traumatic brain injuries, or lack of oxygen after birth.

**Molecular Mechanisms:**
- **Inflammation**: Prenatal infections can activate inflammatory pathways, releasing cytokines that damage developing brain cells.
- **Hypoxia-Ischemia**: Reduced oxygen supply and blood flow during critical periods can lead to cell death and brain damage.
- **Excitotoxicity**: Overactivation of glutamate receptors can result in excessive calcium influx into neurons, leading to cell injury and death.
- **Genetic Factors**: Mutations in genes involved in brain structure and function can predispose individuals to CP. Disorders in pathways like cell migration, neural connectivity, and synaptic function may be implicated.

Understanding these mechanisms helps in developing targeted therapies and interventions to manage or prevent cerebral palsy.
Treatment: Treatment for cerebral palsy (CP) focuses on managing symptoms and improving quality of life. It typically involves a multidisciplinary approach, including:

1. **Physical Therapy**: Helps improve motor skills, strength, and coordination.
2. **Occupational Therapy**: Assists in developing daily living skills and promoting independence.
3. **Speech and Language Therapy**: Aids in communication skills and may help with feeding and swallowing issues.
4. **Medication**: Can reduce muscle spasticity and manage pain (e.g., muscle relaxants, anticonvulsants for seizures).
5. **Surgical Interventions**: May be necessary for correcting anatomical abnormalities or improving mobility.
6. **Assistive Devices**: Such as braces, wheelchairs, and communication aids to enhance mobility and communication.
7. **Orthotic Devices**: Includes braces and splints to support limbs and improve functionality.

The goal is personalized care tailored to the unique needs of each individual with CP.
Compassionate Use Treatment: Compassionate use treatments and experimental therapies for cerebral palsy (CP) are avenues explored when conventional treatments are not effective or suitable. Some notable options include:

1. **Stem Cell Therapy:**
- Experimental use of stem cells aims to promote repair and regeneration of damaged neural tissues.

2. **Hyperbaric Oxygen Therapy (HBOT):**
- Off-label use involving the inhalation of pure oxygen in a pressurized chamber, aimed at increasing oxygen delivery to damaged brain tissues.

3. **Selective Dorsal Rhizotomy (SDR):**
- In certain cases, SDR is considered an experimental surgical treatment to reduce spasticity by cutting selective nerve roots in the spinal cord.

4. **Functional Electrical Stimulation (FES):**
- Experimental and off-label use to improve muscle function through electrical impulses.

5. **Medications Under Investigation:**
- Various pharmaceuticals, such as certain neuroprotective agents and muscle relaxants, are being studied for their potential benefits in managing CP symptoms.

6. **Exoskeleton Devices:**
- Experimental use of robotic exoskeletons to enhance mobility and muscle function.

7. **Advanced Physical and Occupational Therapies:**
- Novel techniques and devices being tested to improve the effectiveness of conventional therapies.

These treatments are often accessed through clinical trials or special compassionate use programs and require thorough evaluation by healthcare professionals to assess suitability and potential risks.
Lifestyle Recommendations: ### Lifestyle Recommendations for Cerebral Palsy:

1. **Physical Therapy:** Regular physical therapy can help improve motor skills, flexibility, and strength. Tailored exercises can maximize functional independence.

2. **Occupational Therapy:** This can assist in developing daily living skills, including dressing, feeding, and using adaptive equipment to enhance autonomy.

3. **Speech Therapy:** For those with speech or communication issues, speech therapy can improve communication skills and potentially assist with swallowing difficulties.

4. **Balanced Diet:** Proper nutrition is essential. Specialized diets might be necessary for individuals with difficulties in chewing or swallowing.

5. **Assistive Devices:** Using braces, walkers, wheelchairs, and other assistive devices can improve mobility and participation in daily activities.

6. **Recreational Activities:** Engaging in hobbies, sports, or other recreational activities can improve overall well-being and social interactions.

7. **Mental Health Support:** Psychological support or counseling can be beneficial for individuals and families to manage stress, anxiety, and social challenges associated with cerebral palsy.

8. **Regular Medical Check-ups:** Consistent monitoring by healthcare professionals, including neurologists, orthopedists, and primary care doctors, is crucial for managing overall health and any associated conditions.

9. **Medication Management:** Medications may be prescribed to manage symptoms such as muscle spasticity, seizures, or pain. It is important to follow the prescribed regimen and consult with healthcare providers regarding any side effects.

10. **Home Modifications:** Making the living environment more accessible (e.g., installing ramps, widening doorways, using adaptive bathroom fixtures) can greatly improve quality of life and independence.

These lifestyle adjustments and proactive strategies can help mitigate the challenges of cerebral palsy and enhance overall quality of life.
Medication: Cerebral palsy (CP) is primarily a motor disorder, and treatment often involves a multidisciplinary approach. While medications do not cure CP, they can help manage symptoms such as spasticity, pain, and seizures. Common medications include:

1. **Muscle Relaxants**: Baclofen, Diazepam, and Dantrolene can help reduce muscle stiffness and spasms.
2. **Anticholinergics**: Medications like Trihexyphenidyl can help with dystonia and uncontrolled movements.
3. **Botulinum Toxin (Botox)**: Injections can help reduce spasticity in targeted muscles.
4. **Anticonvulsants**: Used to control seizures, common ones include Valproic Acid, Carbamazepine, and Levetiracetam.
5. **Pain Management**: Nonsteroidal anti-inflammatory drugs (NSAIDs) or other pain relievers may be prescribed for pain management.

It's essential for individuals with CP to have a tailored treatment plan designed by healthcare professionals.
Repurposable Drugs: Cerebral palsy is a group of permanent movement disorders caused by damage to the developing brain, often before birth. Currently, no specific drugs are approved exclusively for treating cerebral palsy, but several medications used for other conditions may help manage its symptoms:

1. **Muscle relaxants**: Baclofen and diazepam can help reduce spasticity.
2. **Anticholinergic drugs**: Medications like trihexyphenidyl can reduce drooling.
3. **Botulinum toxin**: Botox injections can be used to relax specific muscles.
4. **Anticonvulsants**: Medications such as valproate and carbamazepine can manage seizures, which are sometimes associated with cerebral palsy.

These medications do not cure cerebral palsy but can alleviate some of its symptoms. Always consult a healthcare provider for personalized medical advice.
Metabolites: Information on specific metabolites associated with cerebral palsy (CP) is limited as CP is primarily a neurological disorder caused by brain injury or abnormal brain development. However, metabolic profiling and research into biomarkers for CP can provide some insights:

1. **Lactate**: Elevated levels of lactate may be observed, indicating cerebral hypoxia or lactic acidosis.
2. **Glutamate**: Imbalances in glutamate, an excitatory neurotransmitter, may be involved due to its role in neurotoxicity and brain injury.

Ongoing research in metabolomics may provide further insights into the metabolic alterations in CP, but definitive biomarkers are still under investigation.
Nutraceuticals: Nutraceuticals, including vitamins, minerals, amino acids, and antioxidants, are being explored for their potential benefits in managing cerebral palsy. These compounds are studied for their roles in reducing oxidative stress, improving neuronal function, and supporting overall health. However, while some preliminary research indicates potential benefits, more rigorous and extensive clinical trials are needed to establish their efficacy and safety in cerebral palsy treatment. Nutraceutical options should always be considered in consultation with a healthcare professional.
Peptides: Peptide-based therapies and nanotechnology are emerging research areas for cerebral palsy. Peptides can be designed to target and repair specific damaged neural cells, potentially improving neural function and reducing symptoms. Nanotechnology can aid in the targeted delivery of drugs or therapeutic agents directly to affected areas of the brain, increasing treatment efficacy while minimizing side effects. These approaches are still largely in experimental stages but show promise for future treatment options.