Name of disease:

ICD-10 diagnosis code:

Causes:

Mode of inheritance:

• Most cases of Williams syndrome are not inherited.
• The chromosomal alteration usually occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family.
• The risk of having a child with Williams syndrome is increased if a parent who is unaffected has a chromosomal change called an inversion in the region of chromosome 7 associated with Williams syndrome.

Prevalence:

Diagnosis:

• Physical examination
• Genetic test
• EKG or echocardiogram to check for heart irregularities
• Blood pressure
• Blood or urine test to identify symptoms in kidneys

Age of onset:

Common signs and symptoms:

• Williams syndrome may cause symptoms that range in severity. Not all people with Williams syndrome will have the set of symptoms.
• Symptoms of Williams syndrome include:
  - Chronic ear infections and/or hearing loss
  - Dental abnormalities such as poor enamel and small or missing teeth
  - Elevated calcium level in the blood
  - Endocrine abnormalities: hypothyroidism, early puberty, and diabetes in adulthood
  - Farsightedness
  - Feeding difficulties in infancy
  - Scoliosis (curve of the spine)
  - Sleep problem
  - Unsteady walk (gait)
  - Cardiovascular disease
• Symptoms of Williams syndrome can cause delays for children to reach developmental milestones including:
  - Learning
  - Saying their first words and talking
  - Sitting up and walking due to low muscle tone
  - Socialising (outgoing and very friendly, difficulty identifying strangers, attention problems, excessive empathy, phobias or anxiety)
• Physical characteristics:
  - Full cheeks
  - Large ears
  - Prominent lips
  - Short stature
  - Small jaw
  - Upturned nose
  - Vertical skin folds that cover the inner corner of eyes
  - Wide mouth

Available treatment (medicinal and non-medicinal):

• There is no cure for Williams syndrome. It is important to identify and treat the side effects that can occur with this condition. Treatment and interventions must be based on the unique needs of each individual including:
  - Obtaining a formal evaluation by a cardiologist. If a problem is found in the heart, the cardiologist will determine the best treatment.
  - Enrolling in early intervention programmes, therapies, or special education to alleviate developmental delays and/or learning problems.
  - Visiting a nutritionist or a nephrologist to treat elevated blood calcium levels.
  - Visiting specialists as needed to address any additional symptoms.

Disease management tips:

• Use simple, concrete language to the person with Williams syndrome at all times. Avoid complex and abstract explanations or concepts.
• Provide a structured and consistent daily programme throughout the year.
• Provide adequate support to reduce the risk of social vulnerability (especially when away from the home situation).
• Ensure that all involved in the person’s care agree on a consistent way of managing problems (such as how to respond to attention-seeking, complaints against others, etc).
• Try to avoid giving attention to problem behaviours.
• Reduce stress in the environment by eliminating excessive noise, unpredictable or unnecessary changes in routine or staff, or unrealistic expectations of what the individual is able to achieve/understand.
• Try to build up daily life skills gradually and with adequate support in order to develop greater self-help and independence.

References:

• https://www.williams-syndrome.org/next-steps/new-diagnosis-first-steps#:~:text=You%20should%20also%20provide%20all82
• https://www.williams-syndrome.org/what-is-ws/general-information#:~:text=WS%20affects%201%20in%207%2C500social%2C%20friendly%2C%20and%20endearing
• https://williams-syndrome.org.uk/wp-content/uploads/2021/05/guidelines_for_the_care_of_adults_with-williams-syndrome.pdf
• https://medlineplus.gov/genetics/condition/williams-syndrome/#inheritance
• https://my.clevelandclinic.org/health/diseases/15174-williams-syndrome
• https://www.childneurologyfoundation.org/disorder/williams-syndrome/#:~:text=Most%20patients%20with%20Williams%20syndromethree%20and%20a%20half%20years

Other useful websites:

• Hong Kong Mucopolyscaccharidoses & Rare Genetic Diseases Mutual Aid Group
  https://mps.org.hk/en/hong-kong-mucopolysaccharidoses-rare-genetic-diseases-mutual-aid-group-home/