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What is Angelman Syndrome?

Angelman syndrome (AS) is a rare neurogenetic disorder that arises due to the loss of function of a specific gene, UBE3A, located on chromosome 15. Typically, individuals inherit one copy of this gene from each parent, but only the mother’s copy is active in certain brain regions. In Angelman syndrome, the maternal copy is either missing or not functioning correctly.

What causes Angelman Syndrome?

This can occur through various genetic mechanisms, including:-

  • Deletion: A portion of the maternal chromosome 15 containing the UBE3A gene is missing (most common).
  • Paternal uniparental disomy (UPD): The individual inherits two copies of chromosome 15 from the father and none from the mother.
  • Imprinting defect- The maternal UBE3A gene is present but abnormally “switched off.”
  • Mutation-A change within the maternal UBE3A gene prevents it from functioning properly.

In some instances, the genetic cause of Angelman syndrome cannot be identified. Although AS is a genetic disorder, it is usually not inherited. Most cases result from spontaneous genetic changes that occur very early in embryonic development.

Symptoms of Angelman Syndrome

Infants with Angelman syndrome often appear normal at birth, and the characteristic features become more noticeable over time, typically between 6 and 12 months of age. The key features of Angelman syndrome include:-

  • Developmental Delay- Significant delays in reaching developmental milestones such as sitting, crawling, and walking.
  • Intellectual Disability-Individuals have varying degrees of intellectual impairment.
  • Severe Speech Impairment- Most individuals have limited to no functional speech and rely on non-verbal communication methods like gestures, signs, or communication devices.
  • Movement and Balance Problems (Ataxia)-Difficulties with coordination, jerky movements, and an unsteady, wide-based gait, sometimes described as “puppet-like.”
  • Seizures (Epilepsy)- Seizures commonly begin between 2 and 3 years of age and can be challenging to manage.
  • Sleep Disturbances-Difficulty falling asleep and staying asleep, with a reduced need for sleep.

Other common features may include:-

  • Small head size (microcephaly)
  • Flattened back of the head (microbrachycephaly)
  • Light pigmentation of hair, skin, and eyes
  • Wide mouth with widely spaced teeth
  • Tongue thrusting
  • Crossed eyes (strabismus)
  • Hand flapping or jerky arm movements
  • Hyperactivity and short attention span
  • Feeding difficulties in infancy
  • Increased sensitivity to heat
  • Scoliosis (curvature of the spine)
Diagnosis of Angelman Syndrome

A diagnosis of Angelman syndrome is typically suspected based on a child’s clinical presentation, including developmental delays and the characteristic physical and behavioral features. However, genetic testing is essential to confirm the diagnosis. Several types of genetic tests may be performed on a blood sample:-

  • DNA Methylation Test-This test screens for most of the known genetic changes associated with Angelman syndrome by examining the pattern of methylation (a chemical modification of DNA) in the chromosome 15 region.
  • Chromosomal Microarray (CMA)-This test can detect deletions or duplications of chromosome segments.
  • UBE3A Gene Sequencing- If the methylation test results are normal, this test looks for specific mutations within the UBE3A gene.
  • Parental DNA Pattern Analysis-This can help determine if the child inherited both copies of chromosome 15 from the father (uniparental disomy).

An electroencephalogram (EEG) may also be performed to look for characteristic brain wave patterns associated with Angelman syndrome, especially in individuals with seizures.

Physiotherapy Treatment for Angelman Syndrome

Physiotherapy plays a crucial role in managing the motor impairments and promoting functional independence in individuals with Angelman syndrome. Early intervention is vital and should continue throughout the lifespan. The goals of physiotherapy treatment are individualized and focus on:-

  • Improving Gross Motor Skills-Addressing delays in sitting, crawling, walking, and other motor milestones through tailored exercises and activities.
  • Enhancing Balance and Coordination-Implementing balance training exercises, such as standing on one foot or using balance boards, to improve stability and reduce the risk of falls.
  • Gait Training-Utilizing techniques and assistive devices like walkers or ankle-foot orthoses (AFOs) to improve walking patterns, safety, and efficiency.
  • Strengthening Muscles-Exercises to build strength in specific muscle groups necessary for functional tasks and mobility.
  • Managing Tone and Movement-Addressing stiffness, jerky movements, and tremors through gentle exercises, stretching, and deliberate movement activities like Tai Chi. Weighted tools can also help stabilize movements.
  • Preventing Contractures and Deformities-Utilizing active and passive stretching, postural management strategies, and appropriate positioning to maintain range of motion and prevent muscle shortening or joint stiffness.
  • Promoting Good Posture-Providing guidance on optimal posture in sitting, standing, and lying down to prevent secondary complications like scoliosis.
  • Encouraging Mobility and Independence-Utilizing equipment such as standers and gait trainers to promote weight-bearing, mobility, and participation in daily activities.
  • Aquatic Therapy (Hydrotherapy)-Utilizing the properties of water to facilitate movement, improve strength, and enhance stability in a supportive environment. Many individuals with AS enjoy water activities.
  • Hippotherapy (Horse Therapy)-Utilizing the movement of a horse to improve gross motor function, balance, posture, and core strength.

Physiotherapists work closely with individuals with Angelman syndrome, their families to develop and implement comprehensive treatment plans that address their specific needs and goals. The focus is on maximizing physical abilities, promoting independence, and enhancing their overall quality of life.

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