Genetic Disorders
Tourette Syndrome
Down Syndrome
Angelman Syndrome
Fragile X Syndrome
Tay-Sachs Disease
Neurological disorder
Causes uncontrollable and involuntary vocal movements and sounds, called tics
No cure
Shows signs when an individual is between 2 - 21 years of age
Does not shorten life span
Symptoms: Movement tics, vocal tics and tic escapes
Affects an individual's learning, behaviour and sleep problems, anxiety and mood changes
Genetic condition
Causes a range of physical and intellectual problems
Individuals with this genetic disorder have an absent or faulty gene called UBE3A, which causes the nerve cells in the brain to not function properly
Rare condition (1 in 20,000)
Often identified when a child is not developing properly at the age of 6 to 12 months
Symptoms: Lack of sleep, restless, difficulty with daily life tasks without support, intellectual disability, delayed development, speak very little or not at all, laugh or smile for no apparent reason, seizures, small head which is flat at the back and different facial features (spaced teeth and eyes that look in different directions)
Genetic condition
Individuals with this condition are born with an extra third copy of chromosome 21
Higher chance of health problems
May cause gut or heart defects, hypothyroidism or issues with bones
Learning and maybe speech and language difficulty
Higher chance of being overweight, osteoporosis and low thyroid levels
Genetically inherited, life-long condition
Symptoms: Intellectual disability, behavioural and learning challenges along with physical characteristics
Common genetic cause of autism
1 in 4000 males == 1 in 6000 females
Caused by a change in the FMR-1 gene which helps create a protein needed for healthy brain development
2 Types of Fragile X Syndrome: pre-mutation and full mutation. Full mutation shows symptoms of Fragile X while pre-mutation may not show symptoms but are carriers of Fragile X
Carriers may develop certain health conditions: Fragile X tremor ataxia syndrome (FXTAS) or Fragile X primary ovarian insufficiency (FXPOI)
No cure
Genetic disorder that causes permanent brain damage
2 types of Tay-Sachs disease: Infantile form (more common) and late-onset form
Signs of symptoms can be seen in children when they are 6 months old.
Symptoms: Blindness, paralysis, low muscle tone, seizures, unable to grasp or reach out and stopping from crawling, smiling and turning over
It is caused by a deficiency in an enzyme that is need for the brain to function properly. This particular deficiency is caused by a problem with the HEXA gene
Autosomal recessive disorder: a child must inherit faulty HEXA genes from both parents to have Tay-Sachs disease
May be diagnosed following a clinical examination or by performing biochemical or genetic testing on blood sample
No cure