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Genetic
conditions

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Genetic Conditions

Down Syndrome

What is it?

Down Syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. It’s this extra genetic material that causes the physical features and developmental delays associated with Down Syndrome. The physical presentations and medical concerns associated with Down Syndrome can vary between individuals.

The health concerns that are associated with  Down Syndrome can be treated, and pleasingly, research and resources continue to grow for those living with the condition. 

How Down Syndrome Affects Children?

Children with Down Syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and a protruding tongue.

Low muscle tone (called hypotonia) is also characteristic of children with Down Syndrome, and babies in particular may seem especially “floppy.” Though this can and often does improve over time, most children with Down Syndrome typically reach developmental milestones, like sitting up, crawling, and walking later than other children.

At birth, children with Down Syndrome are usually of average size, but they tend to grow at a slower rate and remain smaller than their peers. For infants, low muscle tone may contribute to sucking and feeding problems, as well as constipation and other digestive issues. Toddlers and older children may have delays in speech and self-care skills like feeding, dressing, and toileting.

Down Syndrome affects children’s ability to learn in different ways; most individuals with the condition have mild to moderate intellectual impairment. Children with Down Syndrome can and do learn and are capable of developing skills throughout their lives. They simply reach goals at a different pace — which is why it’s important not to compare a child with Down Syndrome against typically developing siblings or even other children with the condition.

Children with Down Syndrome have a wide range of abilities, and there’s no way to tell at birth what they will be capable of as they grow up.

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Genetic Conditions

Ehler’s-Danlos
Syndrome

What is it?

Ehlers–Danlos Syndrome is a group of rare genetic connective tissue disorders. Symptoms may include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These can be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.

There are several types of EDS. Though some symptoms are the same, each type of Ehlers–Danlos Syndrome is different.

The three most common types of EDS are, classic, hypermobile & vascular

How Ehlers–Danlos Syndrome affects children?

Diagnosis is often based on symptoms and confirmed with genetic testing or skin biopsy. However, children may initially be misdiagnosed with hypochondriasis, depression, or chronic fatigue syndrome. A large number of signs and symptoms still remain to be identified and linked to Ehlers–Danlos Syndrome. Treatment for Ehlers-Danlos Syndrome is supportive in nature. Physical therapy and bracing may help strengthen muscles and support joints for children.

Genetic Conditions

fragile x syndrome

What is it?

Fragile X syndrome is a genetic condition causing mild to severe intellectual disability. Fragile X syndrome is caused by changes in the FMR1 gene and this gene creates a protein that is required for normal brain development.  Symptoms include delays in talking, anxiety and hyperactive behaviour. Some individuals will also experience vision difficulties, ear infections, heart murmurs and seizures. Physical features might include large ears, a long face, a prominent jaw and forehead and flat feet.

How Fragile X Syndrome Affects Children?

Children with Fragile X often have learning, behaviour and development problems. They can find it hard to understand or process information. Some children with Fragile X have severe symptoms, whereas others have more subtle symptoms. Early intervention can unlock children’s abilities and help them reach their full potential.

Children can also have autism spectrum disorder-like behaviours. Some children have enough of these behaviours to meet the criteria for an autism spectrum disorder (ASD) diagnosis. Fragile X is the most common, known single-gene cause of ASD.

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Genetic Conditions

Klinefelter’s
Syndrome

What is it?

Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. It affects males, and it often isn’t diagnosed until adulthood. It may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.

The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. The effects of Klinefelter syndrome vary, and not everyone has the same signs and symptoms.

How Klinefelter’s Syndrome affects children?

Signs and symptoms in children may include weak muscles, slow motor development like taking longer than average to sit up, crawl and walk. Delay in speaking, problems at birth, such as testicles that haven’t descended into the scrotum. The condition may go undiagnosed until adulthood or it may never be diagnosed. For others, the condition has a noticeable effect on growth or appearance. Klinefelter syndrome increases the risk of:

  • Anxiety and depression
  • Social, emotional and behavioural problems, such as low self-esteem, emotional immaturity and impulsiveness
  • Infertility and problems with sexual function
  • Weak bones (osteoporosis)
  • Heart and blood vessel disease
  • Breast cancer and certain other cancers
  • Lung disease
  • Metabolic syndrome, which includes type 2 diabetes, high blood pressure (hypertension), and high cholesterol and triglycerides (hyperlipidemia)
  • Autoimmune disorders such as lupus and rheumatoid arthritis
  • Tooth and oral problems that make dental cavities more likely
  • Autism spectrum disorder
  • A number of complications caused by Klinefelter syndrome are related to low testosterone (hypogonadism). Testosterone replacement therapy reduces the risk of certain health problems, especially when therapy is started at the beginning of puberty.

Genetic Conditions

Gene deletion /mutation /abnormality

What is it?

Gene deletion/mutation/abnormality is a disease or disorder that is inherited genetically. It is a type of mutation involving the loss of genetic material and can be small, involving a single missing DNA base pair, or large, involving a piece of a chromosome. A deletion mutation can remove a single nucleotide, or entire sequences of nucleotides. Deletions are thought to occur when the enzyme that synthesizes new DNA slips on the template DNA strand, effectively missing a nucleotide.

How gene deletion/ mutation/ abnormality Affects Children?

In general, the effects of rare chromosome disorders vary. With a loss or gain of chromosomal material, symptoms might include a combination of physical problems, health problems, learning difficulties and challenging behaviour. The symptoms depend on which parts of which chromosomes are involved.

There are general characteristics of rare chromosomal disorders that occur to varying degrees in most affected children. For instance, some degree of learning disability and/or developmental delay will occur in children with any loss or gain of material from chromosomes 1 through 22. This is because there are many genes located across all of these chromosomes that provide instructions for normal development and function of the brain.

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Getting help

How can the OTFC Group support clients with Genetic Conditions?

Here at the OTFC Group, our therapists work closely with clients that have genetic conditions in a range of different areas. Our skills in understanding child development and fostering this through the ASI® Framework of therapy, means we can address the sensory foundations necessary to assist a client with a genetic condition in everyday living. As an example, we can provide the client with the foundations necessary for completing tasks such as toileting, eating and dressing. In addition to this we are also able to provide recommendations and strategies on how to assist clients with genetic conditions in the classroom or within the community (such as supported work arrangements).

The client’s occupational therapist will discuss the client’s goals, focus of therapy and challenges to address, to ensure therapy is targeted. We will ensure there is risk minimisation and that physical processing concerns are taken into consideration within the therapy space depending on the genetic condition. With a holistic focus towards development and increasing independence, occupational therapy at the OTFC Group is an integral part of intervention for those with genetic conditions.   

Getting help

It is important that help and medical advice is sought should a client be diagnosed with a genetic condition. In addition to this, specialist advice will be integral in understanding the needs of the client and relevant interventions that should take place. This includes both therapy and medications.

If you are a carer for an individual with a genetic condition, access to support groups and others who understand your story should also be considered in ensuring you feel supported in your journey.  

Explore other
Conditions:

Genetic Conditions

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Behavioural / mental health conditions

Behavioural / mental health conditions

Learning Difficulties

Learning Difficulties

neurological conditions

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Other medical conditions

Other medical conditions

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