Genetic Syndromes

There are a large number and variety of genetic disorders/syndromes diagnosed in children that require occupational therapy to alleviate symptoms. Syndromes may present characteristic symptom patterns such as  orofacial anomalies, limb length, organ anomalies, abnormal muscle tone and hyper-mobile joints. Examples of these syndromes include: Down's syndrome, Edwards’ syndrome, Patau’s syndrome, Turner’s syndrome, Carpal tunnel syndrome, Asperger’s syndrome and Rett’s syndrome

Genetic syndromes often have associated various health problems with them such as cardiovascular abnormalities, obesity, respiratory infections, thyroid deficiencies, visual or hearing impairments, sensory processing issues etc.

An Occupational therapist with a team of specialists such as SLP, paediatricians implement various strategies to help these children achieve their optimal level of functioning.  

1.     Down’s Syndrome

Down's syndrome is a condition in which a person has an extra chromosome. This extra chromosome causes problems as the brain and physical features develop. It can result in following difficulties:

  • Reduced muscle tone
  • Muscle weakness
  • Poor grip
  • Coordination difficulties 
  • Poor fine and gross motor skills 

A professional occupational therapist is able to provide effective treatment and assessment of the types and severity of symptoms of Down's Syndrome. After initial assessments a detailed treatment program is designed for a child in collaboration with the parents.

An occupational therapist helps children learn skills to make them more independent and less reliant on their caregivers. Goals of the treatment could be:

  • Fine motor improvement 
  • Gross motor improvement 
  • Improved grip (e.g. handwriting or carrying objects)
  • Improved social skills
  • Increased independence in daily life skills such as getting dressed.
2.     Asperger’s Syndrome

Asperger's syndrome is technically no longer a diagnosis on its own; it is a part of Autism Spectrum Disorder (ASD).  ASD is a spectrum of related conditions with shared symptoms. Asperger's syndrome is a "high-functioning" type of ASD i.e. its symptoms are less severe than other kinds of Autism Spectrum Disorders.

Asperger Syndrome affects each individual and family differently so an occupational therapist collaborates with parents to design a treatment plan best suited for a child. 

An Occupational therapist helps children improve their motor, social and sensory integration skills to minimise the impact of Asperger’s syndrome. For Asperger’s syndrome an Occupational therapist aims to: 

  • Help teach the child how to act in certain social situations
  • Support children in transitions – such as starting school
  • Identifies the difficulties and how they impact daily life in order to provide adequate treatment 
  • Developing routines and structure to help manage daily life 
  • Builds physical skills (strength and coordination)
3.     Carpal Tunnel Syndrome 

Carpal Tunnel Syndrome is a common condition that is characterised by pain and numbness in the hand and arm. It occurs when the median nerve is compressed as it travels through the wrist. Early diagnosis and treatment of Carpal Tunnel Syndrome is very important since if the pressure on the median nerve continues it can lead to nerve damage.

An occupational therapist usually puts splints on the affected area, suggests exercises, and massages to alleviate pain. Occupational therapists aim to reduce the impact of Carpal Tunnel Syndrome on a patient’s life. An occupational therapist can treat a client with Carpal Tunnel Syndrome in the following ways:

  • Splinting 
  • Introduce minor aids and useful gadgets for use around the house 
  • Suggest exercises to strengthen the hand, wrist, and shoulder
  • Advice on routine structure and incorporating rest.
4. Rett syndrome

Rett syndrome is a rare genetic neurological disorder. It is characterised by severe impairments impacting a child’s ability to speak, walk, eat, and breathe easily. Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems. Severity of symptoms of Rett’s syndrome varies from person to person 

Occupational Therapy can support a child with Rett Syndrome in the following ways:

  • Teaching and expanding in different life skills 
  • Help teach the child how to act in certain social situations        
  • Support children in transitions – such as starting school
  • Fine motor improvement 
  • Gross motor improvement 
  • Developing routines and structure to help manage daily life.
  • Increasing independence in daily life skills 
  • Builds physical skills (strength and coordination)
  • Set functional and achievable goals for a child
  • Educating parents/caregivers and teachers about Rett Syndrome and the skills a child should be demonstrating.
  • Introducing minor aids and useful gadgets for use around the house to assist the child to participate in daily activities.

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