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Background
Cockayne syndrome is a rare genetic disorder that belongs to a group of conditions known as DNA repair disorders. It is named after Edward Alfred Cockayne, the British physician who first described the condition in 1936.
Cockayne syndrome is characterized by a range of physical, developmental, and neurological abnormalities. It is typically classified into three subtypes: Cockayne syndrome type I, type II, and type III, which vary in terms of severity and age of onset.
Epidemiology
Cockayne syndrome is an extremely rare disorder, and its exact prevalence is not well-established. It is estimated to affect approximately 2 to 5 per million births worldwide. However, the prevalence may vary across different populations. Cockayne syndrome occurs in all ethnic groups and both genders equally. Cockayne syndrome is classified into three subtypes (type I, II, and III), with type II being the most common.
Type II Cockayne syndrome tends to have an earlier onset and more severe symptoms compared to the other subtypes. Cockayne syndrome is typically caused by mutations in the ERCC8 (CSA) or ERCC6 (CSB) genes, which are involved in DNA repair mechanisms. The inheritance pattern is autosomal recessive, meaning that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the syndrome.
When both parents are carriers of a single copy of the mutated gene, there is a 25% chance of having an affected child with each pregnancy. Due to the rarity of Cockayne syndrome, it can be challenging to gather comprehensive epidemiological data. Most information about the condition comes from case reports, small case series, and clinical observations. Genetic testing and advances in molecular diagnostics have improved the ability to diagnose Cockayne syndrome accurately, allowing for a better understanding of its epidemiology.
Anatomy
Pathophysiology
Cockayne syndrome is a genetic disorder characterized by impaired DNA repair mechanisms, specifically nucleotide excision repair (NER). The condition is primarily caused by mutations in the ERCC8 (CSA) or ERCC6 (CSB) genes, which encode proteins involved in the NER pathway. The pathophysiology of Cockayne syndrome revolves around the dysfunction of DNA repair processes and subsequent cellular and tissue damage. Here are some key aspects of the pathophysiology of Cockayne syndrome:
Impaired DNA repair: Nucleotide excision repair is responsible for removing DNA damage caused by ultraviolet (UV) radiation, chemical exposure, and other environmental factors. In Cockayne syndrome, mutations in the ERCC8 or ERCC6 genes result in deficient or nonfunctional CSA or CSB proteins, respectively. This impairs the NER pathway’s ability to recognize and repair DNA lesions, leading to the accumulation of unrepaired DNA damage.
DNA damage accumulation: The inability to repair DNA damage properly results in the accumulation of various types of DNA lesions, including UV-induced thymine dimers and other bulky DNA adducts. These DNA lesions interfere with normal DNA replication and transcription processes and can lead to genomic instability and cell dysfunction.
Cellular dysfunction and premature aging: The accumulation of unrepaired DNA damage and genomic instability contribute to cellular dysfunction and premature aging features observed in Cockayne syndrome. The affected cells, particularly those in tissues sensitive to UV radiation, experience increased susceptibility to oxidative stress, mitochondrial dysfunction, and cellular apoptosis.
Neurological abnormalities: Cockayne syndrome primarily affects the central nervous system, leading to progressive neurological deterioration. The exact mechanisms underlying neurological abnormalities are not fully understood but likely involve a combination of impaired DNA repair in neuronal cells, neuronal loss, myelin abnormalities, and neuroinflammation. These processes result in cognitive impairment, developmental delay, motor abnormalities, and sensory disturbances.
Impact on other organ systems: Cockayne syndrome can affect various organ systems, including the eyes, ears, skeletal system, and internal organs. Eye abnormalities, such as retinal degeneration and cataracts, are common. Sensorineural hearing loss, skeletal abnormalities (e.g., osteoporosis, joint contractures), and organ dysfunction (e.g., liver, kidneys) can also occur.
Gene expression alterations: Dysregulation of gene expression has been observed in Cockayne syndrome, likely due to aberrant transcription and disrupted transcription-coupled DNA repair. Altered gene expression patterns can contribute to the clinical features and pathogenesis of the syndrome.
Etiology
Cockayne syndrome is primarily caused by mutations in specific genes involved in DNA repair mechanisms. The two most commonly implicated genes are ERCC8 (also known as CSA) and ERCC6 (also known as CSB). These genes play a crucial role in nucleotide excision repair (NER), a process responsible for removing DNA damage caused by ultraviolet (UV) radiation, chemical exposure, and other environmental factors. Mutations in ERCC8 or ERCC6 result in a deficiency or dysfunction of the CSA or CSB protein, respectively, leading to impaired DNA repair and the development of Cockayne syndrome.
The ERCC8 gene is located on chromosome 5 and encodes the CSA protein. The CSA protein is involved in the recognition and stabilization of the NER complex at the site of DNA damage. Mutations in ERCC8 account for approximately 30% of Cockayne syndrome cases. The ERCC6 gene is located on chromosome 10 and encodes the CSB protein. The CSB protein plays a role in multiple steps of the NER pathway, including DNA damage recognition, unwinding of DNA strands, and recruitment of other proteins involved in repair.
Mutations in ERCC6 account for the majority of Cockayne syndrome cases. Both ERCC8 and ERCC6 mutations result in defective DNA repair, leading to the accumulation of DNA damage and subsequent cellular dysfunction. The specific consequences of impaired DNA repair and the resulting pathophysiology in Cockayne syndrome are still being investigated. It is believed that the accumulated DNA damage and genomic instability contribute to the clinical features and progressive nature of the disorder, including premature aging, developmental delay, neurologic abnormalities, and other systemic manifestations.
The inheritance pattern of Cockayne syndrome is autosomal recessive. This means that an affected individual must inherit two copies of the mutated gene, one from each parent who is typically an unaffected carrier. When both parents carry a single copy of the mutated gene, there is a 25% chance with each pregnancy of having an affected child.
Genetics
Prognostic Factors
Cockayne syndrome is a progressive and often life-limiting condition. The prognosis for individuals with Cockayne syndrome varies depending on the specific subtype (type I, type II, or type III) and the individual’s overall health. Here are some aspects to consider regarding the prognosis of Cockayne syndrome:
Subtype and severity: The different subtypes of Cockayne syndrome have varying degrees of severity. Type I is the most severe, with an early onset and rapid progression of symptoms. Type II has a slightly later onset and a slower progression, while type III is the mildest form with a later onset and a more stable course. Generally, individuals with type I Cockayne syndrome have a shorter life expectancy compared to those with type II or type III.
Neurological deterioration: Cockayne syndrome primarily affects the central nervous system, leading to progressive neurological deterioration. Individuals with Cockayne syndrome often experience a decline in intellectual functioning, cognitive impairment, and motor abnormalities. The rate of neurological deterioration can vary among individuals, but it generally leads to increasing functional limitations over time.
General health and organ dysfunction: Cockayne syndrome can affect multiple organ systems, leading to complications and health challenges. Individuals with Cockayne syndrome may experience liver dysfunction, kidney problems, lung abnormalities, and other systemic issues. The severity and impact of these organ dysfunctions can contribute to the overall prognosis.
Associated medical issues: Cockayne syndrome is associated with various medical issues, such as photosensitivity, hearing loss, vision problems, dental abnormalities, and skeletal abnormalities. The severity and management of these associated medical issues can influence the prognosis and quality of life for individuals with Cockayne syndrome.
Life expectancy: Cockayne syndrome is generally associated with a reduced life expectancy. In severe cases, individuals may not survive past childhood or early adulthood. However, milder forms of the condition may allow for a longer lifespan, with some individuals living into their teenage years or even adulthood.
Clinical History
Clinical history
Cockayne syndrome is a rare genetic disorder that is characterized by a wide range of clinical features. The clinical history of an individual with Cockayne syndrome typically involves the following aspects:
Onset and early signs: The signs and symptoms of Cockayne syndrome often become apparent during infancy or early childhood. However, in some cases, the condition may not be recognized until later in childhood or even adulthood. The onset and progression of symptoms can vary among individuals.
Growth and development: Cockayne syndrome is typically associated with growth failure and a short stature. Affected individuals may have delayed growth and development milestones, including delayed motor skills such as sitting, standing, and walking. Intellectual disability and developmental delay are common, with varying degrees of severity.
Photosensitivity: One of the hallmark features of Cockayne syndrome is extreme sensitivity to sunlight (photosensitivity). Exposure to ultraviolet (UV) radiation from the sun can cause severe skin reactions, including sunburn, blistering, freckling, and an increased risk of skin cancers.
Neurological abnormalities: Cockayne syndrome affects the central nervous system, leading to progressive neurological deterioration. Neurological features can include a decline in intellectual functioning, cognitive impairment, learning difficulties, and motor abnormalities such as ataxia (uncoordinated movements), muscle weakness, and tremors.
Eye abnormalities: Cockayne syndrome commonly presents with eye abnormalities. These can include retinal degeneration, which may cause vision loss or blindness, clouding of the lenses (cataracts), and optic nerve abnormalities. These eye abnormalities can contribute to visual impairment.
Premature aging features: Individuals with Cockayne syndrome often exhibit signs of premature aging, including a characteristic facial appearance with a thin, pinched nose, sunken eyes, and prominent ears. Premature graying and loss of hair may also occur.
Hearing loss: Sensorineural hearing loss is frequently observed in individuals with Cockayne syndrome. It can range from mild to severe and may contribute to communication difficulties.
Dental and skeletal abnormalities: Dental abnormalities, such as dental caries, dental enamel defects, and tooth malformation, can occur in individuals with Cockayne syndrome. Skeletal abnormalities, including osteoporosis (reduced bone density) and joint contractures (fixed joint positions), may also be present.
Organ dysfunction: Cockayne syndrome can affect various organs, including the liver, kidneys, and lungs. These organs may experience progressive dysfunction, leading to complications and health challenges.
Physical Examination
Physical examination
During a physical examination of an individual with Cockayne syndrome, healthcare professionals may observe various physical characteristics and signs associated with the condition. Here are some aspects that may be assessed during a physical examination:
Growth parameters: Healthcare professionals will measure the individual’s height, weight, and head circumference to assess growth and determine if there is growth failure or short stature, which are common features of Cockayne syndrome.
Facial features: Individuals with Cockayne syndrome may exhibit certain facial characteristics. These can include a thin, pinched nose, sunken eyes, prominent ears, and a prematurely aged appearance. These facial features, although not specific to Cockayne syndrome, can provide important clinical clues.
Skin findings: Photosensitivity is a prominent feature of Cockayne syndrome. Upon exposure to sunlight or other sources of UV radiation, individuals with Cockayne syndrome may develop severe sunburn, blistering, or freckling of the skin. These findings can be observed during a physical examination.
Eye abnormalities: Cockayne syndrome is associated with various eye abnormalities. These can include retinal degeneration, cataracts, optic nerve atrophy, and other vision-related issues. An eye examination may be conducted to assess visual acuity, examine the retina, and identify any cataracts or other eye abnormalities.
Hearing assessment: Sensorineural hearing loss is commonly observed in individuals with Cockayne syndrome. Audiometric testing or other hearing assessments may be conducted to evaluate the extent and nature of hearing loss.
Skeletal abnormalities: Cockayne syndrome can involve skeletal abnormalities such as joint contractures, osteoporosis (reduced bone density), and spinal deformities. Healthcare professionals may evaluate joint range of motion, assess for contractures or deformities, and consider the overall skeletal health during the physical examination.
Neurological evaluation: Cockayne syndrome is associated with progressive neurological deterioration. During the examination, healthcare professionals may assess motor skills, coordination, muscle tone, reflexes, and evaluate for signs of ataxia or other neurological abnormalities.
Other organ systems: Cockayne syndrome can impact various organ systems, and a physical examination may involve an assessment of the liver, kidneys, lungs, and other relevant organs. Depending on the specific clinical features and symptoms, further evaluations or investigations may be recommended.
Age group
Associated comorbidity
Associated activity
Acuity of presentation
Differential Diagnoses
Differential diagnosis
Cockayne syndrome is a rare genetic disorder with distinctive clinical features. However, some other conditions may share similar symptoms, making the differential diagnosis important. Here are some conditions that may be considered in the differential diagnosis of Cockayne syndrome:
Xeroderma pigmentosum (XP): XP is another DNA repair disorder that causes sensitivity to UV radiation, leading to sunburn, freckling, and an increased risk of skin cancer. Like Cockayne syndrome, it can present with photosensitivity, neurological abnormalities, and developmental delay. However, XP typically presents with more severe skin manifestations and an increased risk of skin cancer, which can help differentiate it from Cockayne syndrome.
Trichothiodystrophy (TTD): TTD is a group of rare genetic disorders characterized by brittle hair, intellectual disability, and various physical abnormalities. Some forms of TTD can have overlapping features with Cockayne syndrome, including photosensitivity, developmental delay, and neurological abnormalities. However, TTD often presents with distinctive hair abnormalities, such as sparse or brittle hair, which can aid in the differential diagnosis.
Neurodegeneration with brain iron accumulation (NBIA): Certain forms of NBIA, such as PLAN (PLA2G6-associated neurodegeneration), can present with overlapping features seen in Cockayne syndrome, such as developmental delay, progressive neurological deterioration, and movement abnormalities. Brain imaging studies, such as magnetic resonance imaging (MRI), can help distinguish NBIA from Cockayne syndrome by revealing characteristic iron deposition patterns in the brain.
Rett syndrome: Rett syndrome is a neurodevelopmental disorder that primarily affects females. It is characterized by a period of normal development followed by regression, loss of purposeful hand skills, and the development of stereotyped hand movements. While some features of Rett syndrome may overlap with Cockayne syndrome, the distinctive regression pattern and the presence of characteristic hand movements can aid in differentiating the two conditions.
Severe early-onset epileptic encephalopathies: Some forms of severe early-onset epileptic encephalopathies, such as Aicardi syndrome and Dravet syndrome, can present with intellectual disability, developmental delay, and seizures, which may resemble features seen in Cockayne syndrome. Detailed clinical evaluation, electroencephalogram (EEG), and genetic testing can help differentiate these conditions.
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
Cockayne syndrome is a genetic disorder that currently does not have a specific cure. Therefore, the treatment of Cockayne syndrome focuses on managing symptoms, providing supportive care, and addressing associated medical issues. The treatment approach is typically multidisciplinary and tailored to the individual’s specific needs. Here are some aspects of the treatment of Cockayne syndrome:
Symptom management: Various symptoms associated with Cockayne syndrome, such as photosensitivity, neurological abnormalities, and organ dysfunction, may require specific interventions. These can include:
Sun protection: Individuals with Cockayne syndrome should avoid excessive sun exposure and use protective measures such as sunscreen, protective clothing, and sunglasses.
Seizure management: For those experiencing seizures, appropriate antiepileptic medications may be prescribed to control seizure activity.
Management of hearing loss: Hearing aids or other assistive devices may be recommended to address hearing impairments.
Dental care: Regular dental care is important to maintain oral health, and dental interventions may be required to address dental abnormalities.
Supportive care: Providing supportive care is essential to enhance the quality of life for individuals with Cockayne syndrome. This can involve:
Physical and occupational therapy: These therapies can help improve motor skills, coordination, and overall physical function. They may also assist with adaptive devices or techniques to enhance independence in daily activities.
Speech and language therapy: Individuals with Cockayne syndrome may benefit from speech and language therapy to improve communication skills and address any associated speech or language difficulties.
Nutritional support: Nutritional assessment and management can help address growth failure and ensure adequate nutrition to support overall health and development.
Palliative care: In advanced stages of the disease, palliative care may focus on managing symptoms, maximizing comfort, and providing support to both the individual and their family.
Management of associated medical issues: Cockayne syndrome can involve various medical issues such as vision problems, skeletal abnormalities, and organ dysfunction. Management may include:
Ophthalmologic care: Regular eye examinations and interventions such as cataract surgery or corrective lenses may be needed to address vision impairments.
Management of skeletal abnormalities: Treatment of skeletal abnormalities, including joint contractures and osteoporosis, may involve physical therapy, orthopedic interventions, and assistive devices.
Monitoring and management of organ dysfunction: Regular monitoring and appropriate interventions may be necessary to address complications related to liver, kidney, or lung dysfunction.
Genetic counseling: Genetic counseling can provide valuable information about the genetic basis of Cockayne syndrome, recurrence risks for future pregnancies, and family planning options.
The treatment and management of Cockayne syndrome require a coordinated approach involving various healthcare professionals, including geneticists, pediatricians, neurologists, ophthalmologists, therapists, and other specialists. Regular follow-up, ongoing assessments, and adaptation of treatment plans based on individual needs are crucial to optimize care for individuals with Cockayne syndrome.
by Stage
by Modality
Chemotherapy
Radiation Therapy
Surgical Interventions
Hormone Therapy
Immunotherapy
Hyperthermia
Photodynamic Therapy
Stem Cell Transplant
Targeted Therapy
Palliative Care
Medication
Future Trends
References
https://www.ncbi.nlm.nih.gov/books/NBK525998/
Cockayne syndrome is a rare genetic disorder that belongs to a group of conditions known as DNA repair disorders. It is named after Edward Alfred Cockayne, the British physician who first described the condition in 1936.
Cockayne syndrome is characterized by a range of physical, developmental, and neurological abnormalities. It is typically classified into three subtypes: Cockayne syndrome type I, type II, and type III, which vary in terms of severity and age of onset.
Cockayne syndrome is an extremely rare disorder, and its exact prevalence is not well-established. It is estimated to affect approximately 2 to 5 per million births worldwide. However, the prevalence may vary across different populations. Cockayne syndrome occurs in all ethnic groups and both genders equally. Cockayne syndrome is classified into three subtypes (type I, II, and III), with type II being the most common.
Type II Cockayne syndrome tends to have an earlier onset and more severe symptoms compared to the other subtypes. Cockayne syndrome is typically caused by mutations in the ERCC8 (CSA) or ERCC6 (CSB) genes, which are involved in DNA repair mechanisms. The inheritance pattern is autosomal recessive, meaning that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the syndrome.
When both parents are carriers of a single copy of the mutated gene, there is a 25% chance of having an affected child with each pregnancy. Due to the rarity of Cockayne syndrome, it can be challenging to gather comprehensive epidemiological data. Most information about the condition comes from case reports, small case series, and clinical observations. Genetic testing and advances in molecular diagnostics have improved the ability to diagnose Cockayne syndrome accurately, allowing for a better understanding of its epidemiology.
Cockayne syndrome is a genetic disorder characterized by impaired DNA repair mechanisms, specifically nucleotide excision repair (NER). The condition is primarily caused by mutations in the ERCC8 (CSA) or ERCC6 (CSB) genes, which encode proteins involved in the NER pathway. The pathophysiology of Cockayne syndrome revolves around the dysfunction of DNA repair processes and subsequent cellular and tissue damage. Here are some key aspects of the pathophysiology of Cockayne syndrome:
Impaired DNA repair: Nucleotide excision repair is responsible for removing DNA damage caused by ultraviolet (UV) radiation, chemical exposure, and other environmental factors. In Cockayne syndrome, mutations in the ERCC8 or ERCC6 genes result in deficient or nonfunctional CSA or CSB proteins, respectively. This impairs the NER pathway’s ability to recognize and repair DNA lesions, leading to the accumulation of unrepaired DNA damage.
DNA damage accumulation: The inability to repair DNA damage properly results in the accumulation of various types of DNA lesions, including UV-induced thymine dimers and other bulky DNA adducts. These DNA lesions interfere with normal DNA replication and transcription processes and can lead to genomic instability and cell dysfunction.
Cellular dysfunction and premature aging: The accumulation of unrepaired DNA damage and genomic instability contribute to cellular dysfunction and premature aging features observed in Cockayne syndrome. The affected cells, particularly those in tissues sensitive to UV radiation, experience increased susceptibility to oxidative stress, mitochondrial dysfunction, and cellular apoptosis.
Neurological abnormalities: Cockayne syndrome primarily affects the central nervous system, leading to progressive neurological deterioration. The exact mechanisms underlying neurological abnormalities are not fully understood but likely involve a combination of impaired DNA repair in neuronal cells, neuronal loss, myelin abnormalities, and neuroinflammation. These processes result in cognitive impairment, developmental delay, motor abnormalities, and sensory disturbances.
Impact on other organ systems: Cockayne syndrome can affect various organ systems, including the eyes, ears, skeletal system, and internal organs. Eye abnormalities, such as retinal degeneration and cataracts, are common. Sensorineural hearing loss, skeletal abnormalities (e.g., osteoporosis, joint contractures), and organ dysfunction (e.g., liver, kidneys) can also occur.
Gene expression alterations: Dysregulation of gene expression has been observed in Cockayne syndrome, likely due to aberrant transcription and disrupted transcription-coupled DNA repair. Altered gene expression patterns can contribute to the clinical features and pathogenesis of the syndrome.
Cockayne syndrome is primarily caused by mutations in specific genes involved in DNA repair mechanisms. The two most commonly implicated genes are ERCC8 (also known as CSA) and ERCC6 (also known as CSB). These genes play a crucial role in nucleotide excision repair (NER), a process responsible for removing DNA damage caused by ultraviolet (UV) radiation, chemical exposure, and other environmental factors. Mutations in ERCC8 or ERCC6 result in a deficiency or dysfunction of the CSA or CSB protein, respectively, leading to impaired DNA repair and the development of Cockayne syndrome.
The ERCC8 gene is located on chromosome 5 and encodes the CSA protein. The CSA protein is involved in the recognition and stabilization of the NER complex at the site of DNA damage. Mutations in ERCC8 account for approximately 30% of Cockayne syndrome cases. The ERCC6 gene is located on chromosome 10 and encodes the CSB protein. The CSB protein plays a role in multiple steps of the NER pathway, including DNA damage recognition, unwinding of DNA strands, and recruitment of other proteins involved in repair.
Mutations in ERCC6 account for the majority of Cockayne syndrome cases. Both ERCC8 and ERCC6 mutations result in defective DNA repair, leading to the accumulation of DNA damage and subsequent cellular dysfunction. The specific consequences of impaired DNA repair and the resulting pathophysiology in Cockayne syndrome are still being investigated. It is believed that the accumulated DNA damage and genomic instability contribute to the clinical features and progressive nature of the disorder, including premature aging, developmental delay, neurologic abnormalities, and other systemic manifestations.
The inheritance pattern of Cockayne syndrome is autosomal recessive. This means that an affected individual must inherit two copies of the mutated gene, one from each parent who is typically an unaffected carrier. When both parents carry a single copy of the mutated gene, there is a 25% chance with each pregnancy of having an affected child.
Cockayne syndrome is a progressive and often life-limiting condition. The prognosis for individuals with Cockayne syndrome varies depending on the specific subtype (type I, type II, or type III) and the individual’s overall health. Here are some aspects to consider regarding the prognosis of Cockayne syndrome:
Subtype and severity: The different subtypes of Cockayne syndrome have varying degrees of severity. Type I is the most severe, with an early onset and rapid progression of symptoms. Type II has a slightly later onset and a slower progression, while type III is the mildest form with a later onset and a more stable course. Generally, individuals with type I Cockayne syndrome have a shorter life expectancy compared to those with type II or type III.
Neurological deterioration: Cockayne syndrome primarily affects the central nervous system, leading to progressive neurological deterioration. Individuals with Cockayne syndrome often experience a decline in intellectual functioning, cognitive impairment, and motor abnormalities. The rate of neurological deterioration can vary among individuals, but it generally leads to increasing functional limitations over time.
General health and organ dysfunction: Cockayne syndrome can affect multiple organ systems, leading to complications and health challenges. Individuals with Cockayne syndrome may experience liver dysfunction, kidney problems, lung abnormalities, and other systemic issues. The severity and impact of these organ dysfunctions can contribute to the overall prognosis.
Associated medical issues: Cockayne syndrome is associated with various medical issues, such as photosensitivity, hearing loss, vision problems, dental abnormalities, and skeletal abnormalities. The severity and management of these associated medical issues can influence the prognosis and quality of life for individuals with Cockayne syndrome.
Life expectancy: Cockayne syndrome is generally associated with a reduced life expectancy. In severe cases, individuals may not survive past childhood or early adulthood. However, milder forms of the condition may allow for a longer lifespan, with some individuals living into their teenage years or even adulthood.
Clinical history
Cockayne syndrome is a rare genetic disorder that is characterized by a wide range of clinical features. The clinical history of an individual with Cockayne syndrome typically involves the following aspects:
Onset and early signs: The signs and symptoms of Cockayne syndrome often become apparent during infancy or early childhood. However, in some cases, the condition may not be recognized until later in childhood or even adulthood. The onset and progression of symptoms can vary among individuals.
Growth and development: Cockayne syndrome is typically associated with growth failure and a short stature. Affected individuals may have delayed growth and development milestones, including delayed motor skills such as sitting, standing, and walking. Intellectual disability and developmental delay are common, with varying degrees of severity.
Photosensitivity: One of the hallmark features of Cockayne syndrome is extreme sensitivity to sunlight (photosensitivity). Exposure to ultraviolet (UV) radiation from the sun can cause severe skin reactions, including sunburn, blistering, freckling, and an increased risk of skin cancers.
Neurological abnormalities: Cockayne syndrome affects the central nervous system, leading to progressive neurological deterioration. Neurological features can include a decline in intellectual functioning, cognitive impairment, learning difficulties, and motor abnormalities such as ataxia (uncoordinated movements), muscle weakness, and tremors.
Eye abnormalities: Cockayne syndrome commonly presents with eye abnormalities. These can include retinal degeneration, which may cause vision loss or blindness, clouding of the lenses (cataracts), and optic nerve abnormalities. These eye abnormalities can contribute to visual impairment.
Premature aging features: Individuals with Cockayne syndrome often exhibit signs of premature aging, including a characteristic facial appearance with a thin, pinched nose, sunken eyes, and prominent ears. Premature graying and loss of hair may also occur.
Hearing loss: Sensorineural hearing loss is frequently observed in individuals with Cockayne syndrome. It can range from mild to severe and may contribute to communication difficulties.
Dental and skeletal abnormalities: Dental abnormalities, such as dental caries, dental enamel defects, and tooth malformation, can occur in individuals with Cockayne syndrome. Skeletal abnormalities, including osteoporosis (reduced bone density) and joint contractures (fixed joint positions), may also be present.
Organ dysfunction: Cockayne syndrome can affect various organs, including the liver, kidneys, and lungs. These organs may experience progressive dysfunction, leading to complications and health challenges.
Physical examination
During a physical examination of an individual with Cockayne syndrome, healthcare professionals may observe various physical characteristics and signs associated with the condition. Here are some aspects that may be assessed during a physical examination:
Growth parameters: Healthcare professionals will measure the individual’s height, weight, and head circumference to assess growth and determine if there is growth failure or short stature, which are common features of Cockayne syndrome.
Facial features: Individuals with Cockayne syndrome may exhibit certain facial characteristics. These can include a thin, pinched nose, sunken eyes, prominent ears, and a prematurely aged appearance. These facial features, although not specific to Cockayne syndrome, can provide important clinical clues.
Skin findings: Photosensitivity is a prominent feature of Cockayne syndrome. Upon exposure to sunlight or other sources of UV radiation, individuals with Cockayne syndrome may develop severe sunburn, blistering, or freckling of the skin. These findings can be observed during a physical examination.
Eye abnormalities: Cockayne syndrome is associated with various eye abnormalities. These can include retinal degeneration, cataracts, optic nerve atrophy, and other vision-related issues. An eye examination may be conducted to assess visual acuity, examine the retina, and identify any cataracts or other eye abnormalities.
Hearing assessment: Sensorineural hearing loss is commonly observed in individuals with Cockayne syndrome. Audiometric testing or other hearing assessments may be conducted to evaluate the extent and nature of hearing loss.
Skeletal abnormalities: Cockayne syndrome can involve skeletal abnormalities such as joint contractures, osteoporosis (reduced bone density), and spinal deformities. Healthcare professionals may evaluate joint range of motion, assess for contractures or deformities, and consider the overall skeletal health during the physical examination.
Neurological evaluation: Cockayne syndrome is associated with progressive neurological deterioration. During the examination, healthcare professionals may assess motor skills, coordination, muscle tone, reflexes, and evaluate for signs of ataxia or other neurological abnormalities.
Other organ systems: Cockayne syndrome can impact various organ systems, and a physical examination may involve an assessment of the liver, kidneys, lungs, and other relevant organs. Depending on the specific clinical features and symptoms, further evaluations or investigations may be recommended.
Differential diagnosis
Cockayne syndrome is a rare genetic disorder with distinctive clinical features. However, some other conditions may share similar symptoms, making the differential diagnosis important. Here are some conditions that may be considered in the differential diagnosis of Cockayne syndrome:
Xeroderma pigmentosum (XP): XP is another DNA repair disorder that causes sensitivity to UV radiation, leading to sunburn, freckling, and an increased risk of skin cancer. Like Cockayne syndrome, it can present with photosensitivity, neurological abnormalities, and developmental delay. However, XP typically presents with more severe skin manifestations and an increased risk of skin cancer, which can help differentiate it from Cockayne syndrome.
Trichothiodystrophy (TTD): TTD is a group of rare genetic disorders characterized by brittle hair, intellectual disability, and various physical abnormalities. Some forms of TTD can have overlapping features with Cockayne syndrome, including photosensitivity, developmental delay, and neurological abnormalities. However, TTD often presents with distinctive hair abnormalities, such as sparse or brittle hair, which can aid in the differential diagnosis.
Neurodegeneration with brain iron accumulation (NBIA): Certain forms of NBIA, such as PLAN (PLA2G6-associated neurodegeneration), can present with overlapping features seen in Cockayne syndrome, such as developmental delay, progressive neurological deterioration, and movement abnormalities. Brain imaging studies, such as magnetic resonance imaging (MRI), can help distinguish NBIA from Cockayne syndrome by revealing characteristic iron deposition patterns in the brain.
Rett syndrome: Rett syndrome is a neurodevelopmental disorder that primarily affects females. It is characterized by a period of normal development followed by regression, loss of purposeful hand skills, and the development of stereotyped hand movements. While some features of Rett syndrome may overlap with Cockayne syndrome, the distinctive regression pattern and the presence of characteristic hand movements can aid in differentiating the two conditions.
Severe early-onset epileptic encephalopathies: Some forms of severe early-onset epileptic encephalopathies, such as Aicardi syndrome and Dravet syndrome, can present with intellectual disability, developmental delay, and seizures, which may resemble features seen in Cockayne syndrome. Detailed clinical evaluation, electroencephalogram (EEG), and genetic testing can help differentiate these conditions.
Cockayne syndrome is a genetic disorder that currently does not have a specific cure. Therefore, the treatment of Cockayne syndrome focuses on managing symptoms, providing supportive care, and addressing associated medical issues. The treatment approach is typically multidisciplinary and tailored to the individual’s specific needs. Here are some aspects of the treatment of Cockayne syndrome:
Symptom management: Various symptoms associated with Cockayne syndrome, such as photosensitivity, neurological abnormalities, and organ dysfunction, may require specific interventions. These can include:
Sun protection: Individuals with Cockayne syndrome should avoid excessive sun exposure and use protective measures such as sunscreen, protective clothing, and sunglasses.
Seizure management: For those experiencing seizures, appropriate antiepileptic medications may be prescribed to control seizure activity.
Management of hearing loss: Hearing aids or other assistive devices may be recommended to address hearing impairments.
Dental care: Regular dental care is important to maintain oral health, and dental interventions may be required to address dental abnormalities.
Supportive care: Providing supportive care is essential to enhance the quality of life for individuals with Cockayne syndrome. This can involve:
Physical and occupational therapy: These therapies can help improve motor skills, coordination, and overall physical function. They may also assist with adaptive devices or techniques to enhance independence in daily activities.
Speech and language therapy: Individuals with Cockayne syndrome may benefit from speech and language therapy to improve communication skills and address any associated speech or language difficulties.
Nutritional support: Nutritional assessment and management can help address growth failure and ensure adequate nutrition to support overall health and development.
Palliative care: In advanced stages of the disease, palliative care may focus on managing symptoms, maximizing comfort, and providing support to both the individual and their family.
Management of associated medical issues: Cockayne syndrome can involve various medical issues such as vision problems, skeletal abnormalities, and organ dysfunction. Management may include:
Ophthalmologic care: Regular eye examinations and interventions such as cataract surgery or corrective lenses may be needed to address vision impairments.
Management of skeletal abnormalities: Treatment of skeletal abnormalities, including joint contractures and osteoporosis, may involve physical therapy, orthopedic interventions, and assistive devices.
Monitoring and management of organ dysfunction: Regular monitoring and appropriate interventions may be necessary to address complications related to liver, kidney, or lung dysfunction.
Genetic counseling: Genetic counseling can provide valuable information about the genetic basis of Cockayne syndrome, recurrence risks for future pregnancies, and family planning options.
The treatment and management of Cockayne syndrome require a coordinated approach involving various healthcare professionals, including geneticists, pediatricians, neurologists, ophthalmologists, therapists, and other specialists. Regular follow-up, ongoing assessments, and adaptation of treatment plans based on individual needs are crucial to optimize care for individuals with Cockayne syndrome.
https://www.ncbi.nlm.nih.gov/books/NBK525998/
Cockayne syndrome is a rare genetic disorder that belongs to a group of conditions known as DNA repair disorders. It is named after Edward Alfred Cockayne, the British physician who first described the condition in 1936.
Cockayne syndrome is characterized by a range of physical, developmental, and neurological abnormalities. It is typically classified into three subtypes: Cockayne syndrome type I, type II, and type III, which vary in terms of severity and age of onset.
Cockayne syndrome is an extremely rare disorder, and its exact prevalence is not well-established. It is estimated to affect approximately 2 to 5 per million births worldwide. However, the prevalence may vary across different populations. Cockayne syndrome occurs in all ethnic groups and both genders equally. Cockayne syndrome is classified into three subtypes (type I, II, and III), with type II being the most common.
Type II Cockayne syndrome tends to have an earlier onset and more severe symptoms compared to the other subtypes. Cockayne syndrome is typically caused by mutations in the ERCC8 (CSA) or ERCC6 (CSB) genes, which are involved in DNA repair mechanisms. The inheritance pattern is autosomal recessive, meaning that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the syndrome.
When both parents are carriers of a single copy of the mutated gene, there is a 25% chance of having an affected child with each pregnancy. Due to the rarity of Cockayne syndrome, it can be challenging to gather comprehensive epidemiological data. Most information about the condition comes from case reports, small case series, and clinical observations. Genetic testing and advances in molecular diagnostics have improved the ability to diagnose Cockayne syndrome accurately, allowing for a better understanding of its epidemiology.
Cockayne syndrome is a genetic disorder characterized by impaired DNA repair mechanisms, specifically nucleotide excision repair (NER). The condition is primarily caused by mutations in the ERCC8 (CSA) or ERCC6 (CSB) genes, which encode proteins involved in the NER pathway. The pathophysiology of Cockayne syndrome revolves around the dysfunction of DNA repair processes and subsequent cellular and tissue damage. Here are some key aspects of the pathophysiology of Cockayne syndrome:
Impaired DNA repair: Nucleotide excision repair is responsible for removing DNA damage caused by ultraviolet (UV) radiation, chemical exposure, and other environmental factors. In Cockayne syndrome, mutations in the ERCC8 or ERCC6 genes result in deficient or nonfunctional CSA or CSB proteins, respectively. This impairs the NER pathway’s ability to recognize and repair DNA lesions, leading to the accumulation of unrepaired DNA damage.
DNA damage accumulation: The inability to repair DNA damage properly results in the accumulation of various types of DNA lesions, including UV-induced thymine dimers and other bulky DNA adducts. These DNA lesions interfere with normal DNA replication and transcription processes and can lead to genomic instability and cell dysfunction.
Cellular dysfunction and premature aging: The accumulation of unrepaired DNA damage and genomic instability contribute to cellular dysfunction and premature aging features observed in Cockayne syndrome. The affected cells, particularly those in tissues sensitive to UV radiation, experience increased susceptibility to oxidative stress, mitochondrial dysfunction, and cellular apoptosis.
Neurological abnormalities: Cockayne syndrome primarily affects the central nervous system, leading to progressive neurological deterioration. The exact mechanisms underlying neurological abnormalities are not fully understood but likely involve a combination of impaired DNA repair in neuronal cells, neuronal loss, myelin abnormalities, and neuroinflammation. These processes result in cognitive impairment, developmental delay, motor abnormalities, and sensory disturbances.
Impact on other organ systems: Cockayne syndrome can affect various organ systems, including the eyes, ears, skeletal system, and internal organs. Eye abnormalities, such as retinal degeneration and cataracts, are common. Sensorineural hearing loss, skeletal abnormalities (e.g., osteoporosis, joint contractures), and organ dysfunction (e.g., liver, kidneys) can also occur.
Gene expression alterations: Dysregulation of gene expression has been observed in Cockayne syndrome, likely due to aberrant transcription and disrupted transcription-coupled DNA repair. Altered gene expression patterns can contribute to the clinical features and pathogenesis of the syndrome.
Cockayne syndrome is primarily caused by mutations in specific genes involved in DNA repair mechanisms. The two most commonly implicated genes are ERCC8 (also known as CSA) and ERCC6 (also known as CSB). These genes play a crucial role in nucleotide excision repair (NER), a process responsible for removing DNA damage caused by ultraviolet (UV) radiation, chemical exposure, and other environmental factors. Mutations in ERCC8 or ERCC6 result in a deficiency or dysfunction of the CSA or CSB protein, respectively, leading to impaired DNA repair and the development of Cockayne syndrome.
The ERCC8 gene is located on chromosome 5 and encodes the CSA protein. The CSA protein is involved in the recognition and stabilization of the NER complex at the site of DNA damage. Mutations in ERCC8 account for approximately 30% of Cockayne syndrome cases. The ERCC6 gene is located on chromosome 10 and encodes the CSB protein. The CSB protein plays a role in multiple steps of the NER pathway, including DNA damage recognition, unwinding of DNA strands, and recruitment of other proteins involved in repair.
Mutations in ERCC6 account for the majority of Cockayne syndrome cases. Both ERCC8 and ERCC6 mutations result in defective DNA repair, leading to the accumulation of DNA damage and subsequent cellular dysfunction. The specific consequences of impaired DNA repair and the resulting pathophysiology in Cockayne syndrome are still being investigated. It is believed that the accumulated DNA damage and genomic instability contribute to the clinical features and progressive nature of the disorder, including premature aging, developmental delay, neurologic abnormalities, and other systemic manifestations.
The inheritance pattern of Cockayne syndrome is autosomal recessive. This means that an affected individual must inherit two copies of the mutated gene, one from each parent who is typically an unaffected carrier. When both parents carry a single copy of the mutated gene, there is a 25% chance with each pregnancy of having an affected child.
Cockayne syndrome is a progressive and often life-limiting condition. The prognosis for individuals with Cockayne syndrome varies depending on the specific subtype (type I, type II, or type III) and the individual’s overall health. Here are some aspects to consider regarding the prognosis of Cockayne syndrome:
Subtype and severity: The different subtypes of Cockayne syndrome have varying degrees of severity. Type I is the most severe, with an early onset and rapid progression of symptoms. Type II has a slightly later onset and a slower progression, while type III is the mildest form with a later onset and a more stable course. Generally, individuals with type I Cockayne syndrome have a shorter life expectancy compared to those with type II or type III.
Neurological deterioration: Cockayne syndrome primarily affects the central nervous system, leading to progressive neurological deterioration. Individuals with Cockayne syndrome often experience a decline in intellectual functioning, cognitive impairment, and motor abnormalities. The rate of neurological deterioration can vary among individuals, but it generally leads to increasing functional limitations over time.
General health and organ dysfunction: Cockayne syndrome can affect multiple organ systems, leading to complications and health challenges. Individuals with Cockayne syndrome may experience liver dysfunction, kidney problems, lung abnormalities, and other systemic issues. The severity and impact of these organ dysfunctions can contribute to the overall prognosis.
Associated medical issues: Cockayne syndrome is associated with various medical issues, such as photosensitivity, hearing loss, vision problems, dental abnormalities, and skeletal abnormalities. The severity and management of these associated medical issues can influence the prognosis and quality of life for individuals with Cockayne syndrome.
Life expectancy: Cockayne syndrome is generally associated with a reduced life expectancy. In severe cases, individuals may not survive past childhood or early adulthood. However, milder forms of the condition may allow for a longer lifespan, with some individuals living into their teenage years or even adulthood.
Clinical history
Cockayne syndrome is a rare genetic disorder that is characterized by a wide range of clinical features. The clinical history of an individual with Cockayne syndrome typically involves the following aspects:
Onset and early signs: The signs and symptoms of Cockayne syndrome often become apparent during infancy or early childhood. However, in some cases, the condition may not be recognized until later in childhood or even adulthood. The onset and progression of symptoms can vary among individuals.
Growth and development: Cockayne syndrome is typically associated with growth failure and a short stature. Affected individuals may have delayed growth and development milestones, including delayed motor skills such as sitting, standing, and walking. Intellectual disability and developmental delay are common, with varying degrees of severity.
Photosensitivity: One of the hallmark features of Cockayne syndrome is extreme sensitivity to sunlight (photosensitivity). Exposure to ultraviolet (UV) radiation from the sun can cause severe skin reactions, including sunburn, blistering, freckling, and an increased risk of skin cancers.
Neurological abnormalities: Cockayne syndrome affects the central nervous system, leading to progressive neurological deterioration. Neurological features can include a decline in intellectual functioning, cognitive impairment, learning difficulties, and motor abnormalities such as ataxia (uncoordinated movements), muscle weakness, and tremors.
Eye abnormalities: Cockayne syndrome commonly presents with eye abnormalities. These can include retinal degeneration, which may cause vision loss or blindness, clouding of the lenses (cataracts), and optic nerve abnormalities. These eye abnormalities can contribute to visual impairment.
Premature aging features: Individuals with Cockayne syndrome often exhibit signs of premature aging, including a characteristic facial appearance with a thin, pinched nose, sunken eyes, and prominent ears. Premature graying and loss of hair may also occur.
Hearing loss: Sensorineural hearing loss is frequently observed in individuals with Cockayne syndrome. It can range from mild to severe and may contribute to communication difficulties.
Dental and skeletal abnormalities: Dental abnormalities, such as dental caries, dental enamel defects, and tooth malformation, can occur in individuals with Cockayne syndrome. Skeletal abnormalities, including osteoporosis (reduced bone density) and joint contractures (fixed joint positions), may also be present.
Organ dysfunction: Cockayne syndrome can affect various organs, including the liver, kidneys, and lungs. These organs may experience progressive dysfunction, leading to complications and health challenges.
Physical examination
During a physical examination of an individual with Cockayne syndrome, healthcare professionals may observe various physical characteristics and signs associated with the condition. Here are some aspects that may be assessed during a physical examination:
Growth parameters: Healthcare professionals will measure the individual’s height, weight, and head circumference to assess growth and determine if there is growth failure or short stature, which are common features of Cockayne syndrome.
Facial features: Individuals with Cockayne syndrome may exhibit certain facial characteristics. These can include a thin, pinched nose, sunken eyes, prominent ears, and a prematurely aged appearance. These facial features, although not specific to Cockayne syndrome, can provide important clinical clues.
Skin findings: Photosensitivity is a prominent feature of Cockayne syndrome. Upon exposure to sunlight or other sources of UV radiation, individuals with Cockayne syndrome may develop severe sunburn, blistering, or freckling of the skin. These findings can be observed during a physical examination.
Eye abnormalities: Cockayne syndrome is associated with various eye abnormalities. These can include retinal degeneration, cataracts, optic nerve atrophy, and other vision-related issues. An eye examination may be conducted to assess visual acuity, examine the retina, and identify any cataracts or other eye abnormalities.
Hearing assessment: Sensorineural hearing loss is commonly observed in individuals with Cockayne syndrome. Audiometric testing or other hearing assessments may be conducted to evaluate the extent and nature of hearing loss.
Skeletal abnormalities: Cockayne syndrome can involve skeletal abnormalities such as joint contractures, osteoporosis (reduced bone density), and spinal deformities. Healthcare professionals may evaluate joint range of motion, assess for contractures or deformities, and consider the overall skeletal health during the physical examination.
Neurological evaluation: Cockayne syndrome is associated with progressive neurological deterioration. During the examination, healthcare professionals may assess motor skills, coordination, muscle tone, reflexes, and evaluate for signs of ataxia or other neurological abnormalities.
Other organ systems: Cockayne syndrome can impact various organ systems, and a physical examination may involve an assessment of the liver, kidneys, lungs, and other relevant organs. Depending on the specific clinical features and symptoms, further evaluations or investigations may be recommended.
Differential diagnosis
Cockayne syndrome is a rare genetic disorder with distinctive clinical features. However, some other conditions may share similar symptoms, making the differential diagnosis important. Here are some conditions that may be considered in the differential diagnosis of Cockayne syndrome:
Xeroderma pigmentosum (XP): XP is another DNA repair disorder that causes sensitivity to UV radiation, leading to sunburn, freckling, and an increased risk of skin cancer. Like Cockayne syndrome, it can present with photosensitivity, neurological abnormalities, and developmental delay. However, XP typically presents with more severe skin manifestations and an increased risk of skin cancer, which can help differentiate it from Cockayne syndrome.
Trichothiodystrophy (TTD): TTD is a group of rare genetic disorders characterized by brittle hair, intellectual disability, and various physical abnormalities. Some forms of TTD can have overlapping features with Cockayne syndrome, including photosensitivity, developmental delay, and neurological abnormalities. However, TTD often presents with distinctive hair abnormalities, such as sparse or brittle hair, which can aid in the differential diagnosis.
Neurodegeneration with brain iron accumulation (NBIA): Certain forms of NBIA, such as PLAN (PLA2G6-associated neurodegeneration), can present with overlapping features seen in Cockayne syndrome, such as developmental delay, progressive neurological deterioration, and movement abnormalities. Brain imaging studies, such as magnetic resonance imaging (MRI), can help distinguish NBIA from Cockayne syndrome by revealing characteristic iron deposition patterns in the brain.
Rett syndrome: Rett syndrome is a neurodevelopmental disorder that primarily affects females. It is characterized by a period of normal development followed by regression, loss of purposeful hand skills, and the development of stereotyped hand movements. While some features of Rett syndrome may overlap with Cockayne syndrome, the distinctive regression pattern and the presence of characteristic hand movements can aid in differentiating the two conditions.
Severe early-onset epileptic encephalopathies: Some forms of severe early-onset epileptic encephalopathies, such as Aicardi syndrome and Dravet syndrome, can present with intellectual disability, developmental delay, and seizures, which may resemble features seen in Cockayne syndrome. Detailed clinical evaluation, electroencephalogram (EEG), and genetic testing can help differentiate these conditions.
Cockayne syndrome is a genetic disorder that currently does not have a specific cure. Therefore, the treatment of Cockayne syndrome focuses on managing symptoms, providing supportive care, and addressing associated medical issues. The treatment approach is typically multidisciplinary and tailored to the individual’s specific needs. Here are some aspects of the treatment of Cockayne syndrome:
Symptom management: Various symptoms associated with Cockayne syndrome, such as photosensitivity, neurological abnormalities, and organ dysfunction, may require specific interventions. These can include:
Sun protection: Individuals with Cockayne syndrome should avoid excessive sun exposure and use protective measures such as sunscreen, protective clothing, and sunglasses.
Seizure management: For those experiencing seizures, appropriate antiepileptic medications may be prescribed to control seizure activity.
Management of hearing loss: Hearing aids or other assistive devices may be recommended to address hearing impairments.
Dental care: Regular dental care is important to maintain oral health, and dental interventions may be required to address dental abnormalities.
Supportive care: Providing supportive care is essential to enhance the quality of life for individuals with Cockayne syndrome. This can involve:
Physical and occupational therapy: These therapies can help improve motor skills, coordination, and overall physical function. They may also assist with adaptive devices or techniques to enhance independence in daily activities.
Speech and language therapy: Individuals with Cockayne syndrome may benefit from speech and language therapy to improve communication skills and address any associated speech or language difficulties.
Nutritional support: Nutritional assessment and management can help address growth failure and ensure adequate nutrition to support overall health and development.
Palliative care: In advanced stages of the disease, palliative care may focus on managing symptoms, maximizing comfort, and providing support to both the individual and their family.
Management of associated medical issues: Cockayne syndrome can involve various medical issues such as vision problems, skeletal abnormalities, and organ dysfunction. Management may include:
Ophthalmologic care: Regular eye examinations and interventions such as cataract surgery or corrective lenses may be needed to address vision impairments.
Management of skeletal abnormalities: Treatment of skeletal abnormalities, including joint contractures and osteoporosis, may involve physical therapy, orthopedic interventions, and assistive devices.
Monitoring and management of organ dysfunction: Regular monitoring and appropriate interventions may be necessary to address complications related to liver, kidney, or lung dysfunction.
Genetic counseling: Genetic counseling can provide valuable information about the genetic basis of Cockayne syndrome, recurrence risks for future pregnancies, and family planning options.
The treatment and management of Cockayne syndrome require a coordinated approach involving various healthcare professionals, including geneticists, pediatricians, neurologists, ophthalmologists, therapists, and other specialists. Regular follow-up, ongoing assessments, and adaptation of treatment plans based on individual needs are crucial to optimize care for individuals with Cockayne syndrome.
https://www.ncbi.nlm.nih.gov/books/NBK525998/
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