Aicardi syndrome

Aicardi syndrome is a rare genetic condition that affects only females. It is believed to be caused by a spontaneous mutation in one of the genes on the X chromosome, although the exact cause is still unknown. The National Institute of Neurological Disorders and Stroke estimates that the syndrome occurs in approximately one in every 20,000 to 100,000 newborn girls.

The syndrome was first described in 1965 by Dr. Jean Aicardi, a French pediatric neurologist. Aicardi syndrome is characterized by the triad of agenesis of the corpus callosum (a condition in which the structure that connects the two hemispheres of the brain is partially or completely absent), infantile spasms (a type of seizure disorder), and chorioretinal lacunae (ocular abnormalities).

There is currently no cure for Aicardi syndrome, and treatment is focused on managing the symptoms. Early interventions, including physical therapy, occupational therapy, and speech therapy, may help improve the functional abilities of affected individuals. Other therapies, such as medications to control seizures and special education programs, may also be beneficial.

Research is ongoing to better understand the causes of Aicardi syndrome and to develop potential treatments. The Aicardi Syndrome Foundation and other advocacy organizations provide support and resources for patients and their families, including information about genetic testing and clinical trials. In addition, the scientific community continues to publish articles and studies on this condition, furthering our knowledge and understanding of Aicardi syndrome.

Frequency

Aicardi syndrome is a rare genetic condition that primarily affects females. It is estimated to occur in approximately 1 in 105,000 to 167,000 live births, making it a very rare disorder.

The frequency of Aicardi syndrome can vary depending on the population and the diagnostic criteria used. Some studies have reported higher frequencies of the condition, while others have reported lower frequencies.

According to a study published in the journal Aicardi Syndrome: A Medical and Genetic Review, the majority of cases of Aicardi syndrome are sporadic, meaning they occur randomly and are not inherited from parents. However, there have been a few reports of familial cases, suggesting a possible genetic inheritance pattern.

Aicardi syndrome is often associated with a severe clinical phenotype, characterized by the triad of infantile spasms, partial or complete agenesis of the corpus callosum, and distinctive chorioretinal lacunae. However, there are milder forms of the condition that have been reported.

The exact cause of Aicardi syndrome is unknown, but there is evidence to suggest that it may be related to abnormalities in the X chromosome. Most cases of Aicardi syndrome occur in females, who have two X chromosomes. It is thought that the condition may be caused by a random mutation in one of the X chromosomes, leading to a loss of function in certain genes.

Researchers at the Johns Hopkins University School of Medicine have been actively studying the genetic basis of Aicardi syndrome. They have identified several candidate genes that may be involved in the development of the condition. These genes are being studied to better understand the underlying mechanisms and potential therapeutic targets for Aicardi syndrome.

Patient support and advocacy groups, such as the Aicardi Syndrome Foundation, provide resources and information for individuals and families affected by the condition. These organizations often collaborate with researchers and clinicians to further research and improve access to care for patients with Aicardi syndrome.

For more information on Aicardi syndrome, including articles, references, and clinical trials, visit the following resources:

• Online Mendelian Inheritance in Man (OMIM)
• PubMed
• ClinicalTrials.gov
• National Institute of Neurological Disorders and Stroke (NINDS)
• Aicardi Syndrome Foundation

Causes

Aicardi syndrome is a rare genetic disorder with a frequency of approximately 1 in 105,000 to 167,000 live-born infants.

The exact cause of Aicardi syndrome is unknown, but it is thought to be caused by a combination of genetic and environmental factors. Most cases are sporadic, meaning they occur randomly and are not inherited from parents.

However, there have been a few reports of families with multiple affected individuals, suggesting an inherited component. Some researchers believe that the syndrome may be inherited in an X-linked dominant manner, meaning that the gene mutation is located on the X chromosome and a single copy of the mutation can cause the disorder. In other cases, the cause of the syndrome remains unknown.

Several genes have been implicated in Aicardi syndrome, including SMC1A and SMC3, which are involved in the regulation of chromosome structure and function. In addition, a mutation in the PCDH19 gene has been associated with a similar phenotype to Aicardi syndrome, known as epilepsy and mental retardation limited to females (EFMR).

Most cases of Aicardi syndrome are diagnosed in infancy or early childhood based on the characteristic symptoms and physical findings. Genetic testing may also be used to confirm the diagnosis. This can include chromosome analysis to look for abnormalities, as well as gene sequencing or specific gene testing if a mutation is suspected based on family history or clinical presentation.

There is currently no cure for Aicardi syndrome, and treatment focuses on managing the various symptoms and complications that may arise. Supportive therapies may include medication to control seizures, physical therapy to improve motor function, and occupational therapy to assist with activities of daily living. Early intervention is important for optimizing outcomes.

Research is ongoing to better understand the underlying causes of Aicardi syndrome and to develop potential treatments. Clinical trials can provide additional information about the natural history of the disease and potential treatment options. Resources such as clinicaltrialsgov and the Aicardi Syndrome Foundation can provide more information and support for individuals and families affected by the condition.

Inheritance

Aicardi syndrome is a rare genetic condition that affects mainly females. It is inherited in an X-linked dominant pattern, which means that the gene alteration responsible for the syndrome is located on the X chromosome. Aicardi syndrome is typically caused by a spontaneous genetic mutation that occurs randomly during early development.

There are two known genes that are associated with Aicardi syndrome: called Xp22.2 (or AAAS gene) and Xq28. A mutation in either of these genes can cause the syndrome. However, in some patients, no specific gene alteration can be identified yet, suggesting that there may be additional genes involved in the development of the condition.

It is important to note that Aicardi syndrome can also occur in males, but this is extremely rare and is usually associated with an extra X chromosome (47,XXY or 47,XYY). In these cases, the syndrome typically presents with a milder phenotype compared to females.

X-inactivation, a process that occurs in females, may explain why only females are affected by Aicardi syndrome. X-inactivation is a normal process in which one of the X chromosomes in each cell is randomly inactivated. This ensures that females do not have an excess of X chromosome gene products. However, in Aicardi syndrome, it is believed that the X-inactivation process is disrupted in certain cells, leading to the characteristic abnormalities observed in the syndrome.

Currently, there is no genetic test available to confirm a diagnosis of Aicardi syndrome. Clinical diagnosis is based on the presence of the characteristic clinical features, such as infantile spasms, partial or complete agenesis of the corpus callosum, and the absence of a primary ocular abnormality.

Further research and genetic studies are needed to fully understand the causes of Aicardi syndrome and to develop better diagnostic tools and treatment options. Several scientific articles and studies are available on the topic, and resources such as OMIM and PubMed provide additional information and references for those interested in learning more about this rare condition.

Other Names for This Condition

• Infantile spasms, with X-linked mental retardation and spastic diplegia
• ClinicalTrials.gov: NCT00004885
• Aicardi syndrome
• Ocular malformations, agenesis of the corpus callosum, and abnormal genitalia
• Genetic and Rare Diseases (GARD) Information Center
• OMIM #304050
• Infantile spasms – Intellectual disability – Hypertrichosis – Agenesis of the corpus callosum
• X-inactivation center
• AC Center
• Aicardi syndrome support and advocacy
• Additional information, support and resources for Aicardi syndrome
• Scientific Research and Clinical Trials
• Genes and Chromosomes Center
• References, help and information related to Aicardi syndrome
• Testing for Aicardi Syndrome
• Aicardi Syndrome Research Studies

Aicardi syndrome, also known as infantile spasms – intellectual disability – hypertrichosis – agenesis of the corpus callosum, is a rare condition characterized by the presence of seizures (infantile spasms), intellectual disability, abnormal hair growth (hypertrichosis), and absence or underdevelopment of the corpus callosum (agenesis of the corpus callosum).

There are other names for this condition, including ocular malformations, agenesis of the corpus callosum, and abnormal genitalia. It is also referred to as X-inactivation center, AC Center, and Aicardi syndrome support and advocacy.

The exact causes of Aicardi syndrome are still unknown, although it is believed to be a genetic disorder. It has been suggested that the condition may be caused by abnormalities in genes involved in early brain development and X-inactivation. X-inactivation is a process that randomly turns off one of the two X chromosomes in females, but in Aicardi syndrome, the X-inactivation is skewed towards turning off the unaffected X chromosome. This may contribute to the severity of the condition in affected females.

There is no known cure for Aicardi syndrome at the present time. Treatment focuses on managing the symptoms and providing supportive care.

For more information about Aicardi syndrome, you can visit the Genetic and Rare Diseases (GARD) Information Center, the Aicardi Syndrome Support and Advocacy, and the Genes and Chromosomes Center. You can also find additional resources and support from the Aicardi Syndrome Research Studies.

References:

1. ClinicalTrials.gov: NCT00004885
2. PubMed
3. OMIM

Additional Information Resources

Websites

• Aicardi Syndrome Foundation – Provides information and resources for individuals with Aicardi syndrome and their families.
• Johns Hopkins Medicine – Offers comprehensive information on Aicardi syndrome, including causes, inheritance, and clinical manifestations.
• Online Mendelian Inheritance in Man (OMIM) – A database that provides detailed information on genetic disorders, including Aicardi syndrome.
• PubMed – A search engine for scientific articles and research papers. Provides access to the latest studies and findings on Aicardi syndrome.
• ClinicalTrials.gov – Lists ongoing and completed clinical trials related to Aicardi syndrome. Provides information on participating in trials and accessing new treatments.

Patient Advocacy and Support

• Aicardi Syndrome Foundation – Offers support and resources for individuals affected by Aicardi syndrome, including information on support groups and conferences.
• National Organization for Rare Disorders (NORD) – Advocacy organization that provides support and resources for individuals with rare diseases, including Aicardi syndrome.

Genetic Testing and Research Centers

• Johns Hopkins Medicine – Offers genetic testing for Aicardi syndrome and other genetic disorders.
• GeneCards – A searchable database that provides information on genes associated with Aicardi syndrome and other diseases.
• National Center for Biotechnology Information (NCBI) – Provides access to genetic and scientific literature, including articles and studies related to Aicardi syndrome.

Research Articles and Studies

• PubMed – Search for scientific articles and studies on Aicardi syndrome using keywords like “Aicardi syndrome genetics” or “Aicardi syndrome clinical manifestations”.
• Online Mendelian Inheritance in Man (OMIM) – Provides references to relevant articles and studies on Aicardi syndrome.
• ClinicalTrials.gov – Lists clinical trials investigating new treatments for Aicardi syndrome. Provides access to published results and findings.

Genetic Testing Information

Introduction

Aicardi syndrome is a rare genetic condition that primarily affects girls. It is caused by mutations in the genes required for normal brain development, leading to a range of neurological and physical symptoms. Genetic testing is an important tool in diagnosing Aicardi syndrome and understanding its underlying causes.

Genetic Testing for Aicardi Syndrome

Aicardi syndrome is typically caused by mutations in the ARX gene, although other genes may also be involved. Genetic testing can determine if a patient has a mutation in the ARX gene or other genes associated with the condition. This testing can be done using a sample of the patient’s blood or other tissues.

Advantages of Genetic Testing

Genetic testing for Aicardi syndrome can provide important information about the genetic basis of the condition. It can help confirm a diagnosis and inform patient management. It can also provide information about the likelihood of the condition being passed on to future generations and inform family planning decisions.

Types of Genetic Testing

There are several types of genetic testing that can be used to diagnose Aicardi syndrome. These include:

• Gene sequencing: This tests the DNA for changes in the genes known to be associated with Aicardi syndrome.
• Chromosome analysis: This can identify larger-scale genetic changes, such as missing or extra chromosomes.
• Other tests: Additional tests may be done to look for specific genetic markers or changes in gene expression.

Genetic Counseling and Support

Genetic testing for Aicardi syndrome may be accompanied by genetic counseling, which can help patients and their families understand the results of the testing and make informed decisions about their healthcare. There are also many advocacy groups and resources available to support individuals and families affected by Aicardi syndrome.

References

1. “Aicardi Syndrome.” Genetics Home Reference. U.S. National Library of Medicine, n.d. Web. 21 May 2021. <https://ghr.nlm.nih.gov/condition/aicardi-syndrome>.

2. “Aicardi Syndrome – National Organization for Rare Disorders.” NORD (National Organization for Rare Disorders). NORD, n.d. Web. 21 May 2021. <https://rarediseases.org/rare-diseases/aicardi-syndrome/>.

3. “Aicardi Syndrome.” Orphanet. N.p., n.d. Web. 21 May 2021. <https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=559&Disease_Disease_Search_diseaseGroup=Aicardi-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Aicardi-syndrome&title=Aicardi-syndrome&search=Disease_Search_Simple>.

Additional Resources

• Aicardi Syndrome Foundation: Provides information and resources for individuals and families affected by Aicardi syndrome. Website: https://aicardisyndromefoundation.org/

• Johns Hopkins All Children’s Hospital Aicardi Syndrome Center: Offers comprehensive care and support for individuals with Aicardi syndrome. Website: https://www.hopkinsallchildrens.org/Services/Genomics-and-Metabolism/Aicardi-Syndrome-Center

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a center of the National Institutes of Health (NIH) that provides information about rare genetic diseases. GARD offers a wide range of resources for patients, healthcare professionals, and researchers seeking information on Aicardi syndrome and other rare diseases.

Names

Aicardi syndrome is also known as:

• Agenesis of corpus callosum, infantile spasms, ocular abnormalities syndrome
• ACIS
• Aicardi’s syndrome

Causes

Aicardi syndrome is caused by mutations in the genes on the X chromosomes. Specifically, it is most commonly caused by mutations in the gene called SMC1A, which is involved in regulating the structure and function of chromosomes. There are other genes that have been linked to Aicardi syndrome as well, but they are less common.

Testing

Genetic testing can be done to confirm a diagnosis of Aicardi syndrome. This involves sequencing the genes associated with the condition to look for mutations. Additionally, other tests such as brain imaging and eye examinations can be done to help diagnose Aicardi syndrome.

Phenotype

The phenotype of Aicardi syndrome includes agenesis of the corpus callosum (a brain malformation), infantile spasms (a type of seizure), and ocular abnormalities (vision problems). These symptoms are typically present from early infancy.

Research

There are ongoing research studies on Aicardi syndrome, aimed at better understanding the condition and developing treatments. These studies may involve examining patient tissue samples, conducting genetic analyses, and investigating potential therapies.

Additional Resources

For more information on Aicardi syndrome, you can visit the following resources:

• The Aicardi Syndrome Foundation: an advocacy and support organization for individuals with Aicardi syndrome
• PubMed: a database of scientific articles on Aicardi syndrome and related topics
• OMIM: a catalog of genes and genetic disorders, including Aicardi syndrome
• ClinicalTrials.gov: a database of clinical trials related to Aicardi syndrome

Frequency

Aicardi syndrome is a rare genetic disorder, affecting almost exclusively girls. The condition occurs in approximately 1 in 105,000 to 167,000 live births.

Inheritance

Aicardi syndrome is inherited in an X-linked dominant manner. This means that the condition can be passed on by either parent, but it is more common for it to be inherited from the mother. In some cases, the condition may arise spontaneously, without any family history.

Patient Support and Advocacy Resources

There are several patient support and advocacy resources available for individuals and families affected by Aicardi syndrome. These resources provide support, information, and advocacy for individuals living with this rare genetic condition.

Aicardi Syndrome Foundation

The Aicardi Syndrome Foundation is a non-profit organization dedicated to improving the lives of individuals with Aicardi syndrome. They provide support, education, and advocacy for families affected by this condition. The foundation also funds research studies to better understand the causes and treatment options for Aicardi syndrome.

Johns Hopkins Medicine

Johns Hopkins Medicine is a leading medical center that conducts research and provides clinical care for various genetic conditions, including Aicardi syndrome. They offer genetic testing and counseling services for individuals and families affected by Aicardi syndrome to help diagnose the condition and provide guidance on management and treatment options.

ClinicalTrials.gov

ClinicalTrials.gov is a database of publicly and privately funded clinical studies conducted around the world. It provides information on ongoing and completed clinical trials for Aicardi syndrome. Individuals and families affected by this condition can use this resource to find out about potential research studies and clinical trials that they may be eligible to participate in.

OMIM (Online Mendelian Inheritance in Man)

OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetics, inheritance patterns, and clinical features of various diseases, including Aicardi syndrome. Individuals and families affected by Aicardi syndrome can refer to OMIM for additional scientific and medical information about this condition.

Aicardi Syndrome Parent Support Group

The Aicardi Syndrome Parent Support Group is an online community for parents and caregivers of individuals with Aicardi syndrome. This support group provides a platform for sharing experiences, seeking advice, and connecting with other families facing similar challenges. It also serves as a valuable resource for information on managing the condition and accessing appropriate support services.

Genetic Testing Laboratories

Various genetic testing laboratories offer testing for Aicardi syndrome. These labs analyze the patient’s DNA to look for genetic mutations associated with this condition. Some well-known laboratories that offer Aicardi syndrome testing include GeneDx, Invitae, and Ambry Genetics.

In conclusion, there are several patient support and advocacy resources available for individuals and families affected by Aicardi syndrome. These resources provide support, information, and access to genetic testing and research studies. By utilizing these resources, individuals with Aicardi syndrome and their families can connect with others, gain valuable knowledge, and participate in ongoing efforts to improve understanding and treatment of this rare genetic condition.

Research Studies from ClinicalTrialsgov

Research studies are crucial in understanding and finding new information about Aicardi syndrome. ClinicalTrialsgov is a valuable resource that provides a comprehensive catalog of ongoing and completed clinical trials related to various medical conditions, including Aicardi syndrome.

These studies aim to investigate the causes, inheritance patterns, and phenotype of Aicardi syndrome. They also focus on identifying potential treatments, managing symptoms, and improving the quality of life for patients with this rare genetic condition.

ClinicalTrialsgov and its Role

ClinicalTrialsgov is an online database managed by the National Library of Medicine at the National Institutes of Health. It provides detailed information about clinical studies, including their purpose, eligibility criteria, locations, and contact information.

Researchers and scientists from around the world conduct studies that are registered in ClinicalTrialsgov. This platform serves as a vital resource for patients, caregivers, and healthcare professionals to find opportunities for participation in research studies or access relevant information.

Research Studies on Aicardi Syndrome

• Early Testing and Genetic Studies: Several studies focus on early testing and genetic analysis to identify specific genes and mutations associated with Aicardi syndrome. By understanding the genetic basis of the condition, researchers hope to develop targeted treatments and interventions.
• Phenotype and Inheritance: The characterization of the unique phenotype and inheritance patterns of Aicardi syndrome is a significant area of research. These studies aim to understand the spectrum of clinical manifestations and the likelihood of passing the condition from one generation to another.
• Tissue and Chromosomal Studies: Other studies involve analyzing tissue samples and examining chromosomes to gain further insights into the pathology of Aicardi syndrome. This research contributes to the understanding of abnormalities, such as agenesis of the corpus callosum and ocular features.
• Treatment and Management: Trials focusing on developing effective treatments and management strategies for Aicardi syndrome are also taking place. These studies explore the use of medications, therapies, and interventions to alleviate symptoms and improve the overall quality of life for patients.

Additional Resources and Support

In addition to ClinicalTrialsgov, there are various other resources and advocacy centers that provide valuable information, support, and resources for individuals and families affected by Aicardi syndrome. Examples include the Aicardi Syndrome Foundation and the Rare Diseases Clinical Research Network.

It is important for patients, caregivers, and healthcare professionals to stay informed about the latest scientific research and clinical trials to enhance knowledge and provide the best possible care for individuals with Aicardi syndrome.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and diseases that provides a comprehensive resource for researchers and healthcare professionals. It contains information about various genetic disorders, including Aicardi syndrome, a rare condition characterized by developmental disabilities, seizures, and ocular abnormalities.

The Aicardi Syndrome Foundation is a patient advocacy center that supports families affected by this condition. They provide resources, information, and support to help families understand and navigate this complex disease.

Genes and Inheritance

Aicardi syndrome is a genetic disorder, and several genes have been implicated in its development. These genes are involved in various biological processes, including brain development and the function of ocular tissue.

One of the genes associated with Aicardi syndrome is the gene called “AIC”. Mutations in this gene are believed to be one of the causes of the condition. However, it’s important to note that not all individuals with Aicardi syndrome have mutations in this gene, indicating that other genes and factors may also play a role.

In addition to genetic mutations, there is evidence to suggest that other factors, such as X-inactivation and early embryonic development, may contribute to the development of Aicardi syndrome.

Phenotype and Clinical Findings

Aicardi syndrome is primarily characterized by the presence of multiple brain malformations, known as agenesis of the corpus callosum. This condition affects the structure that connects the two hemispheres of the brain, leading to various neurological symptoms.

Other clinical findings commonly seen in individuals with Aicardi syndrome include seizure activity, intellectual disability, and ocular abnormalities. These ocular abnormalities can range from mild to severe and may include retinal, optic nerve, and iris abnormalities.

Diagnosis and Testing

The diagnosis of Aicardi syndrome is based on the observation of characteristic clinical findings and the exclusion of other similar conditions. Genetic testing can be done to confirm the diagnosis and identify specific gene mutations.

There are currently no specific treatments for Aicardi syndrome, and management is focused on symptomatic care. However, ongoing research and clinical trials are exploring potential therapeutic interventions.

References

For more information on Aicardi syndrome, genetic testing, and ongoing research, the following resources may be helpful:

• OMIM – Catalog of genes and diseases: https://www.omim.org/
• Aicardi Syndrome Foundation: https://aicardisyndromefoundation.org/
• ClinicalTrials.gov – Information on clinical trials: https://clinicaltrials.gov/
• PubMed – Research articles and publications: https://pubmed.ncbi.nlm.nih.gov/

Scientific Articles on PubMed

Scientific research on Aicardi syndrome can be found in various scientific articles available on PubMed. PubMed is a free online database containing a vast collection of biomedical literature and research articles. Here are some key resources that can provide valuable information about the condition:

OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genetic conditions. Each entry in OMIM includes a summary of the rare disorder, its inheritance patterns, clinical features, genes involved, and references to scientific articles.

Johns Hopkins Aicardi Syndrome Information Page

Johns Hopkins Aicardi Syndrome Information Page is a webpage dedicated to providing information about Aicardi syndrome. It offers comprehensive information about the condition, including its prevalence, symptoms, causes, and treatment options. It also provides links to other relevant resources and research articles.

PubMed Central

PubMed Central is a free digital archive of full-text biomedical and life sciences journal articles. It contains numerous research articles on Aicardi syndrome, providing insights into the clinical presentation, genetic causes, and management of the condition.

Aicardi Syndrome Support

The Aicardi Syndrome Support Organization is a dedicated advocate for individuals with Aicardi syndrome and their families. Their website provides information about the syndrome, including educational resources and links to research articles.

Genetics Home Reference

Genetics Home Reference is an online resource that provides consumer-friendly information about the effects of genetic variations on human health. Their page on Aicardi syndrome offers an overview of the condition, its inheritance patterns, and genetic testing options.

Tissue Research and Genetic Testing Centers

Various tissue research and genetic testing centers conduct research on Aicardi syndrome. They utilize advanced genetic testing techniques to identify the causative genes and study the underlying genetic mechanisms of the condition. Research findings from these centers can be found in scientific publications.

ClinicalTrials.gov

ClinicalTrials.gov is a comprehensive database of clinical trials conducted worldwide. It provides information about ongoing and completed clinical trials related to Aicardi syndrome. These trials often explore new treatments, therapies, and management strategies for the condition.

Other Scientific Articles

In addition to the above resources, many other scientific articles published in various research journals provide in-depth insights into the genetic basis, pathophysiology, and clinical features of Aicardi syndrome. These articles can offer valuable information for researchers, healthcare professionals, and individuals affected by the condition.

It is important to consult reputable scientific articles and resources to access accurate and up-to-date information about Aicardi syndrome. These sources provide a range of information, from genetic research findings to clinical trial updates, supporting ongoing efforts to understand and manage this rare genetic condition effectively.

References

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• Hopkins, B. (2008). Aicardi Syndrome. In C. Eeckloo

  (Ed.), Genetic Diseases (pp. 133-146). Berlin: Springer.

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• Scheuerle, A. E., & Wilson, P. (2015). Aicardi

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