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  2. Developmental Disability
  3. Down syndrome
  4. References
  5. Key references: Cause of Down syndrome
  • Developmental Disability
    • Principles of health care for people with developmental disability
    • Role of the general practitioner in the care of a person with developmental disability
    • Communicating with a person with developmental disability
    • Consent, capacity and decision making for people with developmental disability
    • Abuse, trauma and supporting people with developmental disability
    • General practice and emergency presentation of a person with developmental disability
    • Assessing developmental delay and disability
    • Genetic testing for developmental disability
    • National Disability Insurance Scheme (NDIS)
    • Managing a child with developmental disability
    • Managing an adolescent with developmental disability
    • Managing an adult with developmental disability
    • Managing a person with developmental disability who is ageing
    • Common health problems in people with developmental disability
    • Challenging behaviour in a person with developmental disability
    • Psychiatric disorders in people with developmental disability
    • Epilepsy and seizures in a person with developmental disability
    • Oral and dental health in people with developmental disability
    • Dysphagia in a person with developmental disability
    • Nutritional disorders in people with developmental disability
    • Menstrual management and contraception in females with developmental disability
    • Sexuality and gender identity in people with developmental disability
    • Syndromes and disorders associated with developmental disability
    • 22q11.2 deletion syndrome
    • Autism spectrum disorder
    • Cerebral palsy
    • Down syndrome
      • Introduction to Down syndrome
      • Clinical characteristics of Down syndrome
      • Cause of Down syndrome
      • Prenatal screening for Down syndrome
      • Prenatal diagnosis of Down syndrome
      • Diagnosis of Down syndrome at or after birth
      • Likelihood of recurrence of Down syndrome in subsequent pregnancy
      • Preventive health and screening for people with Down syndrome
      • Common health problems in people with Down syndrome
      • Cardiovascular problems in people with Down syndrome
      • Congenital abnormalities in people with Down syndrome
      • Diabetes in people with Down syndrome
      • Epilepsy and seizures in people with Down syndrome
      • Functional decline in adults with Down syndrome
      • Gastrointestinal problems in people with Down syndrome
      • Immune dysfunction and malignancy in people with Down syndrome
      • Mental health and behaviour in people with Down syndrome
      • Musculoskeletal disorders in people with Down syndrome
      • Respiratory problems in people with Down syndrome
      • Sensory and communication difficulties in people with Down syndrome
      • Sexual and reproductive health in people with Down syndrome
      • References
        • Key references: Introduction to Down syndrome
        • Key references: Clinical characteristics of Down syndrome
        • Key references: Cause of Down syndrome
        • Key references: Prenatal screening for Down syndrome
        • Key references: Prenatal diagnosis of Down syndrome
        • Key references: Preventive health and screening for people with Down syndrome
        • Key references: Common health problems in people with Down syndrome
        • Key references: Cardiovascular problems in people with Down syndrome
        • Key references: Congenital abnormalities in people with Down syndrome
        • Key references: Diabetes in people with Down syndrome
        • Key references: Functional decline in adults with Down syndrome
        • Key references: Gastrointestinal problems in people with Down syndrome
        • Key references: Immune dysfunction and malignancy in people with Down syndrome
        • Key references: Mental health and behaviour in people with Down syndrome
        • Key references: Neurological and neuromuscular disorders in people with Down syndrome
        • Key references: Respiratory problems in people with Down syndrome
        • Key references: Sensory and communication difficulties in people with Down syndrome
    • Fetal alcohol spectrum disorder
    • Fragile X syndrome
    • Neurofibromatosis type 1

Key references: Cause of Down syndrome

  • US Department of Health and Human Services NIoHN, Genetic and Rare Diseases Information Center (GARD). Down syndrome. Gaithersburg, MD: GARD; Accessed Oct 2019. https://rarediseases.info.nih.gov/diseases/10247/down-syndrome
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