SÍNDROME DE WILLIAMS | Falando com a Dra. Vanessa

Falando com a Dra. Vanessa

3 Aug 202213:13

Summary

TLDRThe video script discusses Williams Syndrome, a genetic condition present at birth that can affect anyone, characterized by medical issues like cardiovascular diseases and developmental delays, alongside highly social personalities and a strong affinity for music. It affects one in 7,500 individuals worldwide, requiring continuous medical care and early multidisciplinary interventions. The script highlights the importance of therapies like speech therapy, physiotherapy, and occupational therapy, and notes the increasing opportunities for employment and housing for individuals with Williams Syndrome. It also mentions the challenges in social relationships and the potential for isolation, anxiety, and depression. The diagnosis involves clinical assessment and genetic testing, with most cases having a deletion of the elastin gene. Early therapeutic interventions are crucial for development, and various therapies, including music therapy, are beneficial.

Takeaways

🧬 Williams Syndrome is a genetic condition present at birth, affecting one in 7,500 individuals worldwide.
🌟 It is characterized by medical issues like cardiovascular diseases, developmental delays, and learning difficulties, alongside highly social personalities and a strong affinity for music.
👶 It affects both genders and all cultures equally, caused by spontaneous deletion of genes 26 to 28 on chromosome 7 during conception.
🏥 Medical challenges often come alongside verbal abilities, highly social personalities, and a love for music.
👨‍⚕️ Early multidisciplinary interventions such as speech therapy, physiotherapy, and occupational therapy are crucial for development.
🚸 Children with Williams Syndrome face specific challenges like spatial relationships, numbers, abstract reasoning, and executive functions, impacting daily tasks.
💼 Employment and housing opportunities for individuals with Williams Syndrome are improving, leveraging their friendly nature and need for companionship.
🤝 Social interactions are vital, but individuals with Williams Syndrome often struggle with social nuances, affecting long-term relationship formation.
🧬 The syndrome is diagnosed through clinical assessment and confirmed by DNA testing for the deletion of the elastin gene on chromosome 7.
🎵 Music therapy, among other therapeutic approaches, can be particularly beneficial due to the syndrome's association with musicality.

Q & A

What is Williams Syndrome?
-Williams Syndrome is a genetic condition present at birth that can affect anyone, characterized by medical issues such as cardiovascular diseases, developmental delays, and learning difficulties.
What are some common medical issues associated with Williams Syndrome?
-Common medical issues include cardiovascular diseases, developmental delays, and learning difficulties, often occurring alongside highly social verbal abilities and a strong affinity for music.
How does Williams Syndrome affect social skills and personality?
-Individuals with Williams Syndrome tend to be very social, friendly, and charming, despite also facing significant challenges.
What kind of medical care do children with Williams Syndrome typically require?
-Children with Williams Syndrome usually need continuous and careful medical care, as well as early multidisciplinary interventions such as speech therapy, physiotherapy, and occupational therapy.
How does Williams Syndrome impact cognitive abilities?
-Children with Williams Syndrome may have difficulties with spatial relationships, numbers, abstract reasoning, and executive functions, which can create challenges in daily tasks.
What is the prevalence of Williams Syndrome worldwide?
-Williams Syndrome affects approximately one in 7,500 to 20,000 people worldwide.
How is Williams Syndrome diagnosed clinically?
-Clinical diagnosis is based on a variety of characteristics, followed by genetic confirmation through a DNA test from a small blood sample.
What is the significance of the elastin gene in Williams Syndrome?
-The elastin gene is the marker gene for Williams Syndrome, and its deletion is a common genetic feature in individuals with the syndrome.
What are the two DNA tests that can determine if a person has Williams Syndrome?
-The two DNA tests are the FISH test and the microarray, which can determine if a person has the genetic deletion associated with Williams Syndrome.
How can individuals with Williams Syndrome benefit from various therapies?
-Interventions such as physiotherapy, occupational therapy, speech therapy, and music therapy can help overcome developmental delays and improve motor skills, fine motor control, and language processing.
What is the role of music therapy in the context of Williams Syndrome?
-Music therapy can utilize the natural affinity of individuals with Williams Syndrome for music to help improve other cognitive and physical skills, without requiring musical ability or teaching an instrument.
What are some alternative therapies that can benefit children with Williams Syndrome?
-Alternative therapies such as hippotherapy, auditory integration therapy, and sound-based therapies can provide additional benefits, focusing on self-esteem, emotional well-being, and addressing auditory sensitivities.

Outlines

00:00

🧬 Understanding Williams Syndrome

Williams Syndrome is a genetic condition present at birth that affects individuals globally without gender or cultural bias. It is characterized by medical issues such as cardiovascular diseases, developmental delays, and learning difficulties. Despite these challenges, individuals with Williams Syndrome often possess highly social personalities and a strong affinity for music. The condition occurs due to a spontaneous deletion of genes 26 to 28 on chromosome 7 at conception. While most families have only one affected child, the syndrome affects approximately one in 7,500 individuals worldwide. Children with Williams Syndrome require continuous medical care and early multidisciplinary interventions such as speech therapy, physiotherapy, and occupational therapy to overcome developmental delays. As they grow, they face specific challenges with spatial relationships, numbers, abstract reasoning, and executive functions, which can impact daily tasks. Adults with Williams Syndrome often need home support to realize their full potential, and opportunities for employment and housing are improving due to their friendly nature and social interaction needs. However, they may struggle with forming lasting relationships due to difficulties in processing social subtleties, leading to potential isolation and increased anxiety or depression.

05:01

🧬 Genetic Diagnosis and Therapies for Williams Syndrome

The genetic diagnosis of Williams Syndrome is typically confirmed through a DNA test from a small blood sample, with 98-99% of individuals showing the characteristic deletion of the elastin gene. There are two DNA tests available to determine if a person has Williams Syndrome: the FISH test and the microarray. It is highly unlikely for another family member to have Williams Syndrome due to the spontaneous nature of the deletion, which occurs at a rate of one in 7,500 people. However, if an individual with Williams Syndrome plans to become a parent, there is a 50% chance their child will have the syndrome, and pre-natal testing should be discussed with an obstetrician. Interventions such as physiotherapy, occupational therapy, and speech therapy are crucial to help overcome developmental delays, joint problems, and motor skills issues. These therapies should be initiated as early as possible for maximum benefit. School-age children can receive therapeutic interventions as part of their school activities, but for private services, there are informational materials and therapy cards created by therapists with in-depth knowledge of Williams Syndrome, detailing specific therapies.

10:03

🎶 The Role of Music and Other Therapies in Williams Syndrome

Music therapy is gaining space in schools and has a direct connection with the musicality often found in individuals with Williams Syndrome. It involves teaching and reinforcing other cognitive and physical skills through the use of music and does not depend on musical ability or teach children to play an instrument. In addition to occupational, physical, and speech therapies, children with Williams Syndrome can benefit from various types of therapeutic support, including music therapy, equine therapy, and sound-based therapies. Equine therapy, which refers to the use of horse movement as a treatment tool by various therapists to address deficiencies and functional limitations, can also bring benefits to children with Williams Syndrome. Sound-based therapies, such as auditory integration therapy, originally designed for individuals with autism, are now used for patients with dyslexia and ADHD to reduce sound sensitivity and address auditory difficulties. The video concludes with an invitation for viewers to like, comment, share, and subscribe for more informative content on pediatric cardiology and humanization.

Mindmap

Keywords

💡Williams Syndrome

Williams Syndrome is a genetic condition present at birth that can affect anyone. It is characterized by medical issues such as cardiovascular diseases, developmental delays, and learning difficulties. The term is central to the video's theme as it discusses the various aspects of this condition, including its effects on individuals and the types of therapies that can be beneficial.

💡Genetic Condition

A genetic condition refers to a health problem caused by one or more abnormalities in the genome. In the context of the video, Williams Syndrome is a genetic condition caused by a spontaneous deletion of genes on chromosome 7, affecting the individual's development and health.

💡Cardiovascular Diseases

Cardiovascular diseases refer to disorders affecting the heart and blood vessels. The script mentions that individuals with Williams Syndrome may have cardiovascular issues, which can range from mild to potentially fatal, underscoring the medical complexities associated with the condition.

💡Developmental Delays

Developmental delays describe a slower rate of development in children compared to their peers. The video script indicates that children with Williams Syndrome often experience developmental delays, which may require specialized therapies and interventions.

💡Learning Difficulties

Learning difficulties refer to challenges in acquiring and using knowledge and skills efficiently. The script highlights that individuals with Williams Syndrome may face learning difficulties, affecting their educational and developmental progress.

💡Highly Social Personality

A highly social personality is characterized by a strong desire to interact with others and form relationships. The video describes individuals with Williams Syndrome as having highly social personalities, which is a key aspect of their behavioral profile.

💡Musical Affinity

Musical affinity refers to a natural inclination or strong interest in music. The script notes that people with Williams Syndrome often have a great affinity for music, which is a unique characteristic of the syndrome.

💡Therapy

Therapy in the context of the video refers to various professional interventions aimed at improving the physical, cognitive, or emotional functioning of individuals with Williams Syndrome. The script discusses different types of therapies, such as physiotherapy, occupational therapy, and speech therapy, that can help address the challenges faced by these individuals.

💡Genetic Diagnosis

Genetic diagnosis is the process of identifying changes in an individual's DNA to determine if a genetic condition is present. The video explains that the diagnosis of Williams Syndrome is confirmed through a genetic test, which checks for the deletion of genes on chromosome 7.

💡Elastin Gene

The elastin gene is responsible for producing a protein that is essential for the elasticity of tissues. The script specifies that the deletion of the elastin gene is a marker for Williams Syndrome and is part of the contiguous gene syndrome, where all deleted genes align within the critical region of the syndrome.

💡Social Interaction

Social interaction refers to the process of communicating and engaging with others. The video mentions that while individuals with Williams Syndrome are sociable, they may struggle with subtle social cues, which can affect their ability to form lasting relationships.

💡Music Therapy

Music therapy is a therapeutic approach that uses music to address physical, emotional, cognitive, and social needs. The script highlights music therapy as a beneficial intervention for individuals with Williams Syndrome, leveraging their natural affinity for music to improve other cognitive and physical skills.

Highlights

Williams syndrome is a genetic condition present at birth that can affect anyone.

It is characterized by medical issues such as cardiovascular diseases, developmental delays, and learning difficulties.

Individuals with Williams syndrome often have highly social personalities and a great affinity for music.

The syndrome occurs equally in men and women and across all cultures worldwide.

It is caused by a spontaneous deletion of genes 26 to 28 on chromosome 7 at the time of conception.

Most families with a child with Williams syndrome have no other affected members.

The syndrome affects one in every 7,500 individuals globally.

Children with Williams syndrome are often sociable, friendly, and charming but face significant challenges.

They may experience mild to potentially fatal cardiovascular issues.

Early and continuous medical care and multidisciplinary interventions are crucial for their development.

Therapies such as speech therapy, physiotherapy, and occupational therapy help overcome developmental delays.

Adults with Williams syndrome often require residential support to live to their full potential.

Employment and housing opportunities for individuals with Williams syndrome are improving.

Social interaction is important for those with the syndrome due to their friendly nature and need for company.

People with Williams syndrome often struggle with social subtleties, making long-lasting relationships difficult.

As they mature, individuals with the syndrome may experience intense isolation, leading to increased anxiety and depression.

Williams syndrome is a contiguous gene syndrome, meaning all deleted genes are within the critical region of the syndrome.

Diagnosis usually involves clinical diagnosis based on characteristics and confirmation through genetic DNA testing.

Almost all individuals with typical Williams syndrome characteristics have a deletion of the elastin gene.

There are two DNA tests that can determine if a person has Williams syndrome: the FISH test and the microarray.

The chance of a child having Williams syndrome if one parent has the syndrome is 50%.

Therapies such as physiotherapy, occupational therapy, and speech therapy are beneficial for children with Williams syndrome.

Music therapy, equine therapy, and sound-based therapies can also provide benefits for individuals with Williams syndrome.

Early intervention is key to maximizing the benefits of therapy for children with developmental delays.