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Rare Genetic Syndromes

What are Rare Genetic Conditions affecting paediatric clients?

Rare genetic conditions are disorders caused by abnormalities in an individual’s DNA. These conditions are considered rare because they affect a small percentage of the population. Examples of rare genetic conditions include:

  • Cystic Fibrosis: Affecting the respiratory and digestive systems.
  • Huntington’s Disease: A progressive neurological disorder affecting movement and cognitive function.
  • Prader-Willi Syndrome: Characterised by developmental delays, behavioural issues, and chronic hunger.
  • Duchenne Muscular Dystrophy: Affecting muscle function and leading to progressive weakness.
  • Angelman Syndrome: Resulting in developmental delays, speech impairment, and a happy demeanour.
  • Coffin-Siris Syndrome (CSS) : Can significantly impact paediatric clients by causing developmental delays, intellectual disabilities, and distinctive physical features such as hypoplastic or absent fifth fingers and toes.
  • Neurofibromatosis: Characterised by the growth of non-cancerous tumours on nerves, and in paediatric clients, it can lead to various complications including learning disabilities, behavioural issues, and physical abnormalities.
  • Ehlers Danlos Syndrome: A connective tissue disorder. In paediatric clients, it can manifest as joint hypermobility, skin hyperextensibility, and potential complications such as chronic pain and fatigue.

A diagnosis of a rare genetic condition for your child refers to a disorder caused by a genetic mutation. The implications can vary widely depending on the specific condition. Some common considerations include:

Medical Challenges: Your child may experience a range of medical challenges associated with the particular genetic condition, such as respiratory issues, neurological symptoms, or muscle weakness.

Developmental Delays: Many rare genetic conditions are associated with developmental delays, affecting physical, cognitive, and social milestones.

Individualised Needs: Each rare genetic condition is unique, requiring a tailored approach to address the specific needs and challenges faced by your child.

How Can Neuro Alliance Assist My Child?

A multidisciplinary approach involving occupational therapy, physiotherapy (including respiratory care), and speech pathology is essential in supporting the unique needs of a child with a rare genetic condition. These disciplines collaborate to provide individualized interventions aimed at improving function, independence, and overall quality of life for the child. The strategies employed are tailored to address the specific challenges associated with the rare genetic condition diagnosed.

Occupational Therapy

Occupational therapists work to enhance a child’s ability to engage in daily activities. For a child with a rare genetic condition, OT may focus on:

Adaptive Skills: Developing strategies to overcome challenges in self-care activities, such as dressing, grooming, and feeding.

Fine Motor Skills: Enhancing hand-eye coordination and dexterity for improved functional abilities.

Sensory Integration: Addressing sensory processing issues that may be associated with certain genetic conditions.

Physiotherapy

Physiotherapists focus on optimising physical function, mobility, and respiratory care. For a child with a rare genetic condition, physiotherapy may involve:

Strength and Mobility: Designing exercises to improve muscle strength, flexibility, and overall mobility.

Orthopaedic Concerns: Managing and addressing orthopaedic issues that may arise due to the genetic condition.

Respiratory Care: Implementing techniques and exercises to improve respiratory function and manage respiratory symptoms associated with certain genetic conditions.

Assistive Devices: Recommending and assisting with the use of mobility aids, orthotics, and respiratory support devices.

Speech Pathology

Speech pathologists play a crucial role in addressing communication and swallowing challenges. For a child with a rare genetic condition, speech pathology can include:

Communication Strategies: Developing alternative communication methods if verbal communication is challenging.

Swallowing Therapy: Assessing and treating difficulties related to swallowing, ensuring safe and effective nutrition.

Cognitive-Communication Skills: Enhancing cognitive-communication abilities, such as problem-solving and memory.

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