Down Syndrome PDF: Symptoms, Diagnosis, Prognosis

**Down Syndrome** ================= **[Down Syndrome (Trisomy 21)]** -------------------------------------------- - Genetic condition in which a child has an extra copy of chromosome 21 which changes how a baby's body and brain develops - These changes can result in both mental and physic...

**Down Syndrome** ================= **[Down Syndrome (Trisomy 21)]** -------------------------------------------- - Genetic condition in which a child has an extra copy of chromosome 21 which changes how a baby's body and brain develops - These changes can result in both mental and physical challenges for the child - Wide range of abilities among children with DS **[Historical Background]** - One of the first symptom complexes associated with intellectual disability identified as a syndrome - 1866: Dr. John Langdon Down wrote first physical description - 1959: underlying chromosomal abnormality identified: additional chromosome 21 - 2000: International collaborative group of scientists completed the genomic sequence of the long arm of chromosome 21 **[Physical Features]** - A flattened face, especially the bridge of the nose - Almond-shaped eyes that slant up - A short neck - Small ears - A tongue that tends to stick out of the mouth - Tiny white spots on the iris (colored part) of the eye - Small hands and feet - A single line across the palm of the hand (palmar crease) - Small pinky fingers that sometimes curve toward the thumb - Poor muscle tone or loose joints - Shorter in height as children and adults **[Associated Medical Complications]** - Congenital heart defects - Sensory impairments: vision and hearing - Endocrine abnormalities: hypothyroid and diabetes - Short stature and obesity problems - Orthopedic problems: neck subluxation and other joints - Dental problems: gum disease, small and malformed teeth - Gastrointestinal, renal, and urinary tract anomalies/problems - Epilepsy - Hematologic disorders: leukemia, low iron/anemia - Skin conditions: vitiligo, alopecia **[Neurodevelopment and Behavior]** Delayed Development - Gross motor - Language - Cognitive: Usually have an IQ in the mildly-to-moderately low range - Increased risk: behavioral, emotional, psychiatric issues Comorbidities/Other diagnoses: - ADHD, autism spectrum disorder - Neuropathology of Alzheimer's at age 45 - 75% meet criteria for dementia at age 65 **[Prevalence, Causes, and Risk Factors]** - Down Syndrome occurs in 1/700 live births - Researchers know that Down syndrome is caused by an extra chromosome, but no one knows for sure why Down syndrome occurs or how many different factors play a role - Maternal age is a known risk factor -- Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down Syndrome **[Diagnosis]** - ***Screening tests***: Can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Down syndrome. Screening tests do not provide an absolute diagnosis, but they are safer for the mother and the developing baby - ***Diagnostic tests:*** Can typically detect whether or not a baby will have Down syndrome, but they can be more risky for the mother and developing baby. Neither screening nor diagnostic tests can predict the full impact of Down syndrome on a baby; no one can predict this **[Screening Tests]** - Screening tests often include a combination of a blood test, which measures the amount of various substances in the mother's blood and an ultrasound, which creates a picture of the baby - Ultrasound: Technicians look for fluid behind the baby's neck - Determine baby's risk for Down Syndrome and can produce abnormal results when there is nothing wrong with the baby and these can miss problems **[Diagnostic Tests]** Diagnostic tests are usually performed after a positive screening test in order to confirm a Down syndrome diagnosis. Types of diagnostic tests include: - Chorionic villus sampling (CVS)---examines material from the placenta - Amniocentesis---examines the amniotic fluid (the fluid from the sac surrounding the baby) - Percutaneous umbilical blood sampling (PUBS)---examines blood from the umbilical cord These tests look for changes in the chromosomes that would indicate a Down syndrome diagnosis. **[Medical Evaluation]** Medical evaluation and monitoring is essential for children diagnosed with DS: - ***Evaluation:*** congenital heart disease, vision, hearing - ***Ongoing monitoring***: hemoglobin, thyroid stimulating hormone (TSH), obesity, hearing, vision, dental - ***Evaluation with symptoms***: neck subluxation, swallowing and choking with feeding, sleep apnea, celiac disease - ***Vigilance:*** renal problems, leukemia, diabetes, seizures, rheumatoid arthritis, testicular cancer **[Developmental Milestone Expectations for Babies with DS]** On average children with DS reach their developmental milestones about 1.5 to 2 times later than other children **[Cognitive Deficits and Neurological Complications in Children with DS]** - The relationship between the genetic effects of the trisomy that causes DS and the pathogenetic mechanisms that underly cognitive deficits are not fully understood - Observed structural changes in the brain do not seem to affect all individuals in the same way - Stress, infection, drug side-effects, access to early intervention, and medical problems (e.g., seizures) can influence cognitive outcomes - Difficulties with memory throughout the lifespan **[Assessment and Support]** - Down Syndrome is a life long condition - Services early in life will often help babies and children with Down syndrome to improve their physical and intellectual abilities - Services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs - Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes **[Education considerations]** - Assessment can be beneficial to understand a child's strengths and difficulties across domains relevant to the education setting (e.g., achievement, social skills, and attention) - Research has shown benefits of mainstream education environments on child language and academic skills - Promoting social inclusion and identifying effective instruction methods are essential - Ensuring opportunities for academic instruction **[Intervention Considerations]** - Provide parents with information and education on the condition - Support groups and respite care - IEP based on educational strengths and needs - Use of visual aids, vision and hearing supports if needed - Ensure medical regimens are accommodated in schools **[Outcomes]** Significant improvement since the 1970s: - Parent advocacy groups - Pioneered trend toward inclusion - Increased life expectancy (age 60) - Supported employment benefits Challenges: - Medical complications - Bullying, ostracism - Lack of certain adult milestones (e.g., driver's license) - Lack of adequate services and supports in adulthood