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What Is Phelan Mcdermid Syndrome?

Phelan mcdermid syndrome

Phelan McDermid syndrome is a rare genetic disorder that can cause a wide range of symptoms. Early diagnosis and treatment is important, as it can make a significant difference in the long-term outcome for affected individuals. There is no cure for Phelan-mcdermid syndrome, but treatments are available to manage the symptoms.

In this article, we’ll take a look at what Phelan mcdermid syndrome is, how common it is, and some of the features and symptoms associated with the condition. We’ll also touch on the prognosis and life expectancy for those with Phelan mcdermid syndrome. Finally, we’ll provide some information on when to see a doctor if you or your child are showing signs of the condition.

Phelan McDermid syndrome (PMS) is a rare genetic disorder characterized by delayed development of multiple milestones, including motor, social, and speech skills. PMS is caused by a mutation or deletion in the SHANK3 gene. This gene provides instructions for making a protein that is critical for normal brain development. Most individuals with PMS have a mutation in one copy of the SHANK3 gene in each cell. This mutation results in the production of an abnormally short protein or no protein at all. The loss or alteration of this protein impairs the development and function of neurons that use the neurotransmitter glutamate. These changes in brain development and function are thought to underlie the delays in motor, social, and speech skills that are characteristic of PMS. PMS is considered a form of autism spectrum disorder (ASD). However, compared to other individuals with ASD, those with PMS tend to have relatively normal intelligence and fewer problems with anxiety and hyperactivity.

How Common Is Phelan McDermid Syndrome?

Phelan mcdermid syndrome is a rare genetic disorder, occurring in an estimated 1 in 50,000 to 1 in 100,000 people worldwide. The disorder is more common in males than females and has been found to occur more frequently in certain ethnic groups, such as Ashkenazi Jews and Finns.

The cause of Phelan mcdermid syndrome is a mutation in the SHANK3 gene, which impairs the development and function of neurons that use the neurotransmitter glutamate. The syndrome is inherited in an autosomal recessive pattern, which means that both parents must carry a copy of the mutated gene for their child to be affected.

There is no cure for Phelan mcdermid syndrome, but treatments are available to manage the symptoms. Early diagnosis and intervention are important for optimizing the long-term outcome for affected individuals.

Features of Phelan mcdermid Syndrome

Phelan mcdermid syndrome is a rare genetic disorder that can cause delays in development of motor, social, and speech skills. PMS is caused by a mutation in the SHANK3 gene, which impairs the development and function of neurons that use the neurotransmitter glutamate. There is no cure for PMS, but treatments are available to manage the symptoms.

PMS is characterized by global developmental delays, intellectual disability, and microcephaly. Associated symptoms include feeding difficulties, sleep disorders, and seizures. The estimated prevalence of PMS is 1 in every 10-20 million births worldwide. There is no cure for Phelan mcdermid syndrome, but treatments are available to help manage symptoms.

Phelan mcdermid 22q13 deletion syndrome

Phelan mcdermid syndrome (PMS) is a rare genetic disorder that can cause delays in development of motor, social, and speech skills. PMS is caused by a mutation in the SHANK3 gene, which impairs the development and function of neurons that use the neurotransmitter glutamate. There is no cure for PMS, but treatments are available to manage the symptoms.

PMS is caused by a loss of the terminal region

of chromosome 22. This region contains the SHANK3 gene, which is responsible for making a protein that is important for the development and function of neurons. The loss of this gene leads to problems with the development and function of neurons, which can cause a wide range of symptoms.

PMS is a very rare disorder, with an estimated incidence of 1 in 25,000-50,000 births. The vast majority of cases are caused by a de novo (new) mutation in the SHANK3 gene and are not inherited from a person’s parents.

Symptoms of PMS can vary widely from person to person and range from mild to severe. In some cases, symptoms may not appear until later in childhood or adulthood. The most common symptom is intellectual disability or developmental delay. Other common symptoms include seizures, autism spectrum disorder, sleep problems, feeding difficulties, and problems with movement and balance.

Early diagnosis and treatment of PMS is important as it can make a significant difference in the long-term outcome for affected individuals. There might not be a cure for Phelan mcdermid syndrome specifically, but treatments are available to manage symptoms depending on their severity.. Treatments could include speech therapy, occupational therapy

Phelan Mcdermid Syndrome Prognosis

The prognosis for Phelan mcdermid syndrome (PMS) is difficult to predict as the condition is rare and there is limited data on long-term outcomes. However, the prognosis does vary depending on the severity of symptoms and age of diagnosis. In general, most children with Phelan mcdermid syndrome have normal intelligence and life span, but some may have intellectual disability and require lifelong care. Seizures are the most common symptom, but can be controlled with medication in most cases. Speech delay is also common, but many children learn to speak. Some children with Phelan mcdermid syndrome develop autism spectrum disorder. Early diagnosis and treatment is important for the best possible outcome.

Phelan Mcdermid Syndrome Life Expectancy

Phelan McDermid Syndrome (PMS) is a rare genetic disorder that can cause delays in development of motor, social, and speech skills. Individuals with PMS typically have a normal lifespan; however, some health complications associated with the syndrome can lead to an early death.

The most common cause of death for patients with Phelan McDermid Syndrome is respiratory failure. This is often due to weakened muscles and/or difficulty clearing secretions from the lungs. Seizures are another common symptom of PMS, and can sometimes lead to death if they are not controlled. Feeding difficulties and pneumonia are also potential complications associated with Phelan McDermid Syndrome that could lead to an early death.

Early diagnosis and treatment of Phelan McDermid Syndrome is important for the best possible outcome. There is no cure for the syndrome, but treatments are available to manage the symptoms and help prevent or treat complications. With proper care, most individuals with Phelan McDermid Syndrome will have a normal lifespan.

Phelan McDermid Syndrome Symptoms

Phelan-McDermid syndrome (PMS) is a rare genetic disorder that can cause delays in development of motor, social, and speech skills. PMS is caused by a mutation in the SHANK3 gene, which impairs the development and function of neurons that use the neurotransmitter glutamate. There is no cure for PMS, but treatments are available to manage the symptoms.

Symptoms of Phelan-McDermid syndrome can vary widely in their severity, from mild to severe. In some cases, symptoms may not be apparent until later in childhood or adolescence. It is important to note that not all affected individuals will experience all of the potential symptoms. The most common symptom of Phelan-McDermid syndrome is seizures, which affect approximately two-thirds of affected individuals. Seizures can vary widely in their severity and frequency, and may be controlled with medication in some cases.

Other Common Symptoms Of Phelan-mcdermid Syndrome Include:

Intellectual disability: Around half of affected individuals have some degree of intellectual disability. In some cases, intellectual disability may be mild; however, it can also be severe enough to require lifelong care.

Speech delay: Many children with Phelan-McDermid syndrome have delayed speech development. While some children eventually learn to speak, others may never develop functional speech.

Autism spectrum disorder: Approximately one-third of affected individuals meet the criteria for autism spectrum disorder. Individuals with Phelan-McDermid syndrome are more likely to have certain features of autism spectrum disorder, such as repetitive behaviors and impaired social skills.

Behavioral problems: Affected individuals may also display disruptive or aggressive behaviors. In some cases, behavioral problems may be related to underlying mental health conditions such as anxiety or depression.

Early diagnosis and treatment of Phelan-McDermid syndrome is important for the best possible outcome. There is no cure for the condition, but treatments are available to help manage symptoms and improve quality of life. With proper care and support, most affected individuals will have a normal lifespan.

Phelan Mcdermid Syndrome Facial Features

Phelan-McDermid syndrome can cause a wide variety of facial features. These can include a wide and/or tall forehead, large, widely-spaced eyes, a long and/or narrow face, and a small chin. Early diagnosis and treatment is important, as it can make a significant difference in the long-term outcome for affected individuals. There is no cure for Phelan-McDermid syndrome, but treatments are available to manage the symptoms.

The most common facial feature of Phelan-McDermid syndrome is a wide and/or tall forehead. This can be due to the premature fusion of the frontal bone, which leads to an abnormally shaped forehead. Other facial features include large, widely-spaced eyes, a long and/or narrow face, and a small chin. These features can be due to abnormalities in the development of the bones and muscles of the face. Early diagnosis and treatment is important, as it can make a significant difference in the long-term outcome for affected individuals. There is no cure for Phelan-McDermid syndrome, but treatments are available to manage the symptoms.

Early diagnosis and treatment of Phelan-McDermid syndrome is important for the best possible outcome. With proper care and support, most affected individuals will have a normal lifespan.

Phelan Mcdermid Syndrome Adults

Phelan-McDermid syndrome affects individuals of all ages, but the symptoms may be different in adults than in children. Adults with Phelan-McDermid syndrome may experience mild to severe symptoms, including intellectual disability, speech delay, feeding difficulties, sleep problems, anxiety and depression, aggressive behavior, self-injurious behavior, and seizures.

Early diagnosis and treatment is important for managing the symptoms of this condition. There is no cure for Phelan-McDermid syndrome, but treatments are available to help affected individuals manage their symptoms. With proper care and support, most people with Phelan-McDermid syndrome will have a normal lifespan.

Developmental Problems From Phelan Mcdermid Syndrome

Phelan mcdermid syndrome can cause a wide range of developmental problems, from mild to severe. The most common symptom of Phelan mcdermid syndrome is seizures, which affect approximately two-thirds of affected individuals. Other common symptoms include intellectual disability, speech delay, autism spectrum disorder, and behavioral problems.

Early diagnosis and treatment of Phelan mcdermid syndrome is important for the best possible outcome. With proper care and support, most affected individuals will have a normal lifespan. However, developmental problems from Phelan mcdermid syndrome can cause significant challenges throughout an individual’s life.

Motor skills are often affected by Phelan mcdermid syndrome. This can range from mild clumsiness to more severe issues such as difficulty walking or feeding oneself. Many children with Phelan mcdermid syndrome require physical therapy to help them develop the motor skills they need to function independently.

Speech delay is also common in individuals with Phelan mcdermid syndrome. While some children learn to speak despite delays, others may require speech therapy to help them develop communication skills.

Cognition can also be affected by Phelan mcdermid syndrome. This can manifest as learning difficulties or intellectual disability. Early intervention and specialized therapies can help children with Phelan mcdermid syndrome reach their full potential, but cognitive impairments can persist into adulthood in some cases.

The challenges posed by Phelan mcdermid syndrome vary widely from person to person. Some individuals with the condition live relatively normal lives while others require lifelong care and assistance. Early diagnosis and treatment is important for the best possible outcome for those affected by this rare disorder.

When should I see a doctor?

If you suspect that you or your child may be showing signs of Phelan-McDermid Syndrome, it is important to see a doctor as soon as possible. Early diagnosis and intervention can make a significant difference in the long-term outcome for affected individuals. Signs to look out for include delays in development of motor, social, and speech skills, feeding difficulties, sleep disorders, and seizures. Your doctor may refer you to a genetic counselor or specialist for further evaluation and testing.

Conclusion

Phelan-McDermid Syndrome (PMS) is a rare genetic disorder characterized by delayed development of multiple milestones, including motor, social, and speech skills. It is caused by a mutation or deletion in the SHANK3 gene, which impairs the development and function of neurons that use the neurotransmitter glutamate. PMS is considered a form of autism spectrum disorder (ASD) and is more common in males than females and certain ethnic groups. There is no cure for PMS, but treatments are available to manage symptoms and early diagnosis and intervention are important for optimizing the long-term outcome for affected individuals.

Last worded from Author

It is important to remember that every individual with Phelan-McDermid Syndrome is unique and may have a different set of symptoms and challenges. With the right support and interventions, affected individuals can lead fulfilling lives and reach their full potential. It is important to seek out resources and support from organizations and families affected by PMS, as well as to work closely with healthcare professionals to create a comprehensive treatment plan. With early diagnosis and intervention, individuals with PMS can achieve the best possible outcome.

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Written by
DR. ASHUTOSH TRIPATHI

Greetings, I am Dr. Ashutosh Tripathi, a psychologist with extensive expertise in criminal behavior and its impact on psychological well-being. I hold a Master of Physics (Honors), a Master of Philosophy, a Master of Psychology, and a PhD in Psychology from BHU in India.Over the past 13 years, I have been privileged to serve more than 3200 patients with unique and varied psychological needs. My clinical work is guided by a deep passion for helping individuals navigate complex psychological issues and live more fulfilling lives.As a recognized contributor to the field of psychology, my articles have been published in esteemed Indian news forums, such as The Hindu, The Times of India, and Punjab Kesari. I am grateful for the opportunity to have been honored by the Government of Israel for my contributions to the Psychological Assistance Program.I remain committed to advancing our understanding of psychology and its applications through my ongoing research, which can be found on leading online libraries such as Science Direct, Wiley, Elsevier, Orcid, Google Scholar, and loop Frontiers. I am also an active contributor to Quora, where I share my insights on various psychological issues.Overall, I see myself as a lifelong student of psychology, constantly learning and growing from my patients, colleagues, and peers. I consider it a great privilege to have the opportunity to serve others in this field and to contribute to our collective understanding of the human mind and behavior.

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