Arts syndrome

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When does someone show symptoms of Arts syndrome?

Boys with Arts syndrome start showing symptoms before they are two years old. Although the symptoms can be different from one boy to the next, deafness, muscle problems, and intellectual disability are usually seen before the age of two. Females may never show any signs or symptoms of Arts syndrome. For those that do have symptoms, young adult women may experience some hearing loss in their 20s and they may also develop mild muscle problems. These include hypotonia (low muscle tone), ataxia (poor muscle control), and hyperreflexia (overactive reflexes). Arts syndrome has only been described in a very small number of people. Because of this, the medical community still has much to learn about the disorder including when symptoms typically develop.

References
  • de Brouwer APM, Duley JA, Christodoulou J. Arts syndrome. 2008 Oct 21 [Updated 2011 Mar 29]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK2591/
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What is the life span of someone with Arts syndrome?

Are there physical limitations for someone with Arts syndrome?

Are there cognitive limitations for someone with Arts syndrome?

How are the needs of a baby with Arts syndrome different from the needs of other babies?

Do children with Arts syndrome typically meet their milestones on time?

Does puberty affect Arts syndrome?

Can someone with Arts syndrome get pregnant?

Does treatment for Arts syndrome change over time?

Do people with Arts syndrome need to change their diet or exercise?

How does illness affect people with Arts syndrome?

Is palliative care available for Arts syndrome?

What can I do for siblings of children with Arts syndrome?

What is the life span of someone with Arts syndrome?

Arts syndrome has only been described multiple members of five families. Because of this, it is difficult to make broad generalizations about the progression and prognosis of the disorder. Most boys with Arts syndrome reported in the medical literature died in early childhood (by age 6) because of repeated infections, although other boys with the disorder have lived longer. According to published information, the oldest boys with Arts syndrome lived into their late teenage years (17-19 years old). Females may never show any signs or symptoms of Arts syndrome. Those that do tend to have more mild symptoms. There have been no reports of early deaths in females due to symptoms of Arts syndrome.

References
  • de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J. Arts syndrome is caused by loss-of-function mutations in PRPS1. Am J Hum Genet. 2007;81:507–18.
  • de Brouwer APM, Duley JA, Christodoulou J. Arts syndrome. 2008 Oct 21 [Updated 2011 Mar 29]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK2591/
  • Mittal R, Patel K, Mittal J, et al. Association of PRPS1 Mutations with Disease Phenotypes. Dis Markers. 2015;2015:127013. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4458296
Are there physical limitations for someone with Arts syndrome?

Boys with Arts syndrome have physical limitations. Male infants with Arts syndrome are generally very weak with low muscle tone (hypotonia). Profound hearing loss is often present at birth. Boys with Arts syndrome frequently require the use of a wheelchair beginning in early childhood. Ataxia (poor muscle control) can make life with Arts syndrome challenging as it causes difficulty with coordination. Vision loss may start in later childhood and tends to progress over time. Females may never show any signs or symptoms of Arts syndrome. Those who do show symptoms of Arts syndrome are not expected to have the same degree of physical limitations as boys. As young adults, women may develop hearing loss. They may also develop mild muscle problems.

References
  • Mittal R, Patel K, Mittal J, et al. Association of PRPS1 Mutations with Disease Phenotypes. Dis Markers. 2015; 2015:127013.
  • de Brouwer APM, Duley JA, Christodoulou J. Arts syndrome. 2008 Oct 21 [Updated 2011 Mar 29]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK2591/
Are there cognitive limitations for someone with Arts syndrome?

Boys with Arts syndrome have moderate intellectual disability. It is important to know that boys with Arts syndrome also have profound hearing loss and can develop vision loss that gets worse over time. These symptoms can make it difficult to determine the degree of intellectual disability in boys with Arts syndrome. Females may never show any signs or symptoms of Arts syndrome. Those who do have not been reported to have intellectual disability as a result of Arts syndrome.

References
  • Mittal R, Patel K, Mittal J, et al. Association of PRPS1 Mutations with Disease Phenotypes. Dis Markers. 2015; 2015:127013.
  • de Brouwer APM, Duley JA, Christodoulou J. Arts syndrome. 2008 Oct 21 [Updated 2011 Mar 29]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK2591/
How are the needs of a baby with Arts syndrome different from the needs of other babies?

Newborn boys with Arts syndrome may have profound hearing loss. They often have hypotonia, or low muscle tone, at birth. Boys with Arts syndrome have delayed motor development, meaning that it takes them longer to do things like rolling over, or sitting up without help, than would typically be expected. Before they are 2 years old, boys with Arts syndrome will develop ataxia (poor muscle control). Because these symptoms of Arts syndrome start in the newborn period, the needs of a baby boy with Arts syndrome are different from the needs of other babies. From birth, boys with Arts syndrome will require a specialized treatment plan. They will need to be under the care of several physician specialists and will need other medical services, including physical and occupational therapies. Females may never show any signs or symptoms of Arts syndrome. For those females who have developed symptoms of the condition, the symptoms developed later in life and therefore did not affect their needs as babies.

References
  • de Brouwer APM, Duley JA, Christodoulou J. Arts syndrome. 2008 Oct 21 [Updated 2011 Mar 29]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK2591/
Do children with Arts syndrome typically meet their milestones on time?

Boys with Arts syndrome do not typically meet their milestones on time. Boys with Arts syndrome have delayed motor development, meaning that it takes them longer to do things like rolling over, or sitting up without help, than would typically be expected. They also have intellectual disability. Many females do not develop symptoms of Arts syndrome. For those females who have developed symptoms of the condition, the symptoms developed later in life and therefore did not affect their ability to reach their early developmental milestones. Females have not been reported to have intellectual disability as a result of Arts syndrome.

References
  • Mittal R, Patel K, Mittal J, et al. Association of PRPS1 Mutations with Disease Phenotypes. Dis Markers. 2015; 2015:127013.
  • de Brouwer APM, Duley JA, Christodoulou J. Arts syndrome. 2008 Oct 21 [Updated 2011 Mar 29]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK2591/
Does puberty affect Arts syndrome?

Arts syndrome is a very serious disorder, and most boys with this condition have not survived past early childhood. For those boys with Arts syndrome who have reached the age of puberty, the medical literature does not describe puberty affecting the course of the disorder. Many females never develop any symptoms of Arts syndrome. Symptoms typically do not begin until after puberty for those females who have been reported to show signs of the condition. Women with Arts syndrome can become pregnant and have children without complication. Their children have a chance to be affected with Arts syndrome.

References
  • Al-Maawali A, Dupuis L, Blaser S, et al. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders. Eur J Hum Genet. 2015; 23(3):310–316.
  • de Brouwer APM, Duley JA, Christodoulou J. Arts syndrome. 2008 Oct 21 [Updated 2011 Mar 29]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK2591/
Can someone with Arts syndrome get pregnant?

Women with Arts syndrome can have children. There are no reports that Arts syndrome causes problems with pregnancy. Women with Arts syndrome have a chance to pass the condition on to their children.

References
  • Arts Syndrome. Genetic Home References website. http://ghr.nlm.nih.gov/condition/arts-syndrome
  • de Brouwer APM, Duley JA, Christodoulou J. Arts syndrome. 2008 Oct 21 [Updated 2011 Mar 29]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK2591/
Does treatment for Arts syndrome change over time?

Arts syndrome is a complex genetic disorder that affects multiple organ systems of the body. Treatment for Arts syndrome changes based on the symptoms of the patient. From birth, boys with Arts syndrome will require a specialized treatment plan. They will need to be under the care of several physician specialists and will need other medical services, including physical and occupational therapies. As boys with Arts syndrome develop new symptoms or their symptoms change, their treatment plan is also likely to change.

Many females never develop any symptoms of Arts syndrome. For those who do, hearing loss after the age of 20 is the most common symptom. Muscle problems may also develop. If a female starts showing signs of Arts syndrome, she should begin to see medical specialists for her symptoms, such as an audiologist for hearing loss or a neurologist for muscle problems.

References
  • de Brouwer APM, Duley JA, Christodoulou J. Arts syndrome. 2008 Oct 21 [Updated 2011 Mar 29]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK2591/
Do people with Arts syndrome need to change their diet or exercise?

Boys with Arts syndrome have muscle weakness and other muscle problems that can make physical activity difficult. Boys with Arts syndrome have hypotonia, or low muscle tone, and ataxia, or poor muscle control. This can cause trouble with coordination. Physical and occupational therapies are recommended for boys with Arts syndrome.

Two Australian brothers with Arts syndrome were treated with a dietary supplement called S-adenosylmethionine (SAMe). SAMe is a chemical compound that is naturally found in most cells and tissues of the body. Boys with Arts syndrome are not able to make enough purines, a type of molecule that our cells need to perform basic functions. It is believed that SAMe supplementation may be able to increase purines in boys with Arts syndrome. After starting SAMe supplementation, the Australian brothers with Arts syndrome required fewer hospitalizations and they were able to get their nightly breathing treatments on a more regular schedule. However, the SAMe supplementation was unable to improve all symptoms of Arts syndrome. For example, the brothers' vision continued to get worse after starting SAMe.

References
  • de Brouwer APM, van Bokhoven H, Nabuurs SB, et al. PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment. Am J Hum Genet. 20109;86(4):506–518.
  • de Brouwer APM, Duley JA, Christodoulou J. Arts syndrome. 2008 Oct 21 [Updated 2011 Mar 29]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK2591/
How does illness affect people with Arts syndrome?

Boys with Arts syndrome have a very high risk to develop infections. They are especially susceptible to respiratory infections throughout their life, and often have recurrent infections. This is a very severe symptom of Arts syndrome. A common cold can have devastating effects for boys with Arts syndrome. Most boys with Arts syndrome reported in the medical literature died in early childhood because of repeated infections, although other boys with the disorder have lived longer. Most females do not develop symptoms of Arts syndrome. For those that do, there have not been any reports that they are more susceptible to infection.

References
  • de Brouwer APM, Duley JA, Christodoulou J. Arts syndrome. 2008 Oct 21 [Updated 2011 Mar 29]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK2591/
Is palliative care available for Arts syndrome?

Arts syndrome is a serious medical condition that can be fatal in early childhood. Most boys with Arts syndrome reported in the medical literature have passed away as a result of recurrent infections and their complications before the age of 6. Other boys with Arts syndrome have lived longer - according to published information, the oldest boys with Arts syndrome lived into their late teenage years (17-19 years old). As a result, boys with Arts syndrome may need palliative care. The goal of palliative care is to improve the quality of life for people with serious medical conditions and their families. It focuses on providing patients relief from the symptoms of their disorder. Palliative care ensures that a dying child is as pain free as possible and that all of their physical, social, emotional and spiritual needs are met. It requires close cooperation among family members, immediate relatives, physicians and other medical personnel. A pediatrician, primary care physician or local hospital may be able to offer advice and local resources for palliative care.

The International Children's Palliative Care Network has specific information and support for families considering palliative care for their children.

References
  • de Brouwer APM, Duley JA, Christodoulou J. Arts syndrome. 2008 Oct 21 [Updated 2011 Mar 29]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK2591/
What can I do for siblings of children with Arts syndrome?

A child with Arts syndrome demands a lot of time and focus from parents. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy and anger and high levels of anxiety. It is possible for healthy siblings to feel as if they have been pushed aside when parents focus more of their efforts on their child with a chronic illness. Parents should encourage healthy siblings to discuss their concerns and feelings about living with a sibling with a chronic illness. It is important for parents to acknowledge and address these concerns with their healthy children. Healthy siblings can feel more included in the family structure when they help with the care of their sick sibling. Parents are encouraged to make time for activities specifically for healthy siblings. Some siblings may benefit from support outside of the immediate family, such as meeting with a therapist. The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs. There are also regional support groups for siblings of children with serious health conditions. Your child's pediatrician or your local hospital may be able to tell you if this type of support group is available in your area.

References
  • Houtzager BA, Oort FJ, Hoekstra-Weebers JE, et al. Coping and family functioning predict longitudinal psychological adaptation of siblings of childhood cancer patients. J Pediatr Psychol. 2004;29(8):591-605.
  • Barrera M. Siblings of Children with Rare Diseases are Psychosocially Vulnerable. [PowerPoint]. Vancouver, BC: Sibling Appreciation Day Children's Organ Transplant Society & Rare Disease Foundation; 2012.

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