downs Syndrome Flashcards
what is the Baground information about Downs Syndrome?
Most common cause of developmental disability
Occurs in 1 of 800-1000 live births
First described by John Langdon Down in 1866
what is the Cause of Downs Syndrome?
Caused by trisomy of the 21st chromosome
85% caused from maternal errors in meiosis
Risk increases with maternal age
how do we diagnos Downs Syndrome?
During pregnancy Fetal ultrasound analysis Amniocentesis After birth Karyotyping Suspicions based on physical features
what are some of the physical features of Downs Syndrome?
Brachycephaly (Short, broad head) hands Bradydactyly (short fingers) Broad hands 5th finger clinodactyly (curving in of the little finger) Single palm creased
what is Duodenal Atresia?
Complete obliteration of the duodenal lumen
Treated with surgery
what are some of the facial features of Downs Syndrome?
Epicanthal folds of the eyes Almond shaped eyes Flat nasal bridge Small, open mouth Protruding tongue Short widened neck Small, low-set ears
what are some of the features of the feet with downs syndrome?
AKA sandal toe gap
Between big toe and second toe
what are the body features?
Hypotonia Ligament flexibility Short stature Delayed growth Shorter life expectancy
what are some of the medical concerns associated with the heart and Gastrointestinal issues?
Congenital heart disease (in 40-50%)
Gastrointestinal abnormalities
E.g. Celiac disease
what are some of the medical concerns associated with ear, nose and throat?
Ear infections
Hearing loss
what are some of the oral health issues?
Misaligned bite
Gum disease
what are some of the Skin conditions?
Bald spots Eczema Chapped lips Dry skin Wrinkled tongue
what are some of the eye conditions?
Brushfield spots Cataracts Strabismus (lazy eye) Nystagmus (eye movements) Require glasses
what are some reproductive health issues?
Fertility Males infertile Females 50% chance of child also having Down syndrome Early menopause Menstrual problems
what are some other related health conditions?
Thyroid abnormalities Diabetes Hematological (blood) abnormalities Leukemia and testicular cancer Obesity Arthritis Atlantoaxial instability Seizures Alzheimer’s Disease Sleep disorders
what are some intellectual functioning concerns?
Most have mild to moderate intellectual disability
Slower development in language, non-verbal problem-solving skills, and short-term memory
Most can read to some extent
what are some speach and language concerns?
Poor speech intelligibility caused by:
Dysarthria- difficulty with the strength and precision of muscle movements
Apraxia- inability to plan muscle movements
Abnormalities in the mouth and tongue
Expressive language delays
Stronger receptive language
what are some learning considerations?
Stronger receptive than expressive language
Stronger visual than auditory memory
Friendly, but some lacks in social skills
what are some behavior concerns?
Friendly and outgoing
Stubborn
Challenging behaviour
what are some interventions?
Speech and language therapy
Physiotherapy
Occupational therapy
Training in adaptive skill development
