Summary
- Most common genetic cause of cognitive or intellectual disability (sometimes referred to as mental retardation), with a prevalence of 1 in 691 births.
- Characteristic physical features include brachycephaly with a flat occiput; epicanthal folds and upslanting palpebral fissures; Brushfield spots in the iris; low nasal bridge; low-set ears; broad neck; and small hands with transverse crease.
- Higher frequency of congenital and acquired medical conditions, including congenital heart defects, audiological, vision, GI, haematological, and thyroid issues.
- Global developmental delay, variable IQ ranging from mild to moderate intellectual disability, and age-related pattern of neurobehavioural phenotype.
- Early interventional therapies (e.g., speech therapy, physiotherapy, occupational therapy) and individualised educational programmes/resources are essential to maximise the potential of a person with Down's syndrome.
Other related conditions
- Depression in adults
- Overview of congenital heart disease
- Ventricular septal defects
- Atrial septal defects
- Tetralogy of Fallot
- Small bowel obstruction
- Assessment of learning difficulty and cognitive delay
- Assessment of short stature
- Obstructive sleep apnoea in adults
- Assessment of hearing loss
- Otitis media
- Overview of thyroid dysfunction
- Acute myelogenous leukaemia
- Obesity in children
- Cataracts
- Strabismus
- Astigmatism
- Blepharitis
- Seborrhoeic dermatitis
- Atopic dermatitis
- Cellulitis
- Attention deficit hyperactivity disorder in children
- Alzheimer's dementia
- Hirschsprung's disease
- Coeliac disease
- Autism
- Generalised seizures in children
- Joint dislocation
Last updated: May 14, 2013
