1. Chapter 18 Down Syndrome (Trisomy 21)
Chapter 18 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

2. Background
One of 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
Chapter 18 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

3. Prevalence Increased maternal age → increased occurrence
Chromosomal findings:
Three types of chromosomal abnormalities:
Trisomy 21
Translocation
Mosaicism
Chapter 18 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

4. Effects and Early Identification
Effects of trisomy 21
Results from extra copy of long arm of human chromosome 21
Decreased brain volume
Lower neural capacity
Long-term memory effects
Impairment in articulation and verbal working memory areas of the brain
Early identification
First trimester screening: 82%–87%
Second trimester screening: 80%
Integrated screening: 95%
Chapter 18 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

5. Medical Complications in Down Syndrome
Congenital heart defects
Sensory impairments
Endocrine abnormalities
Growth and obesity problems
Orthopedic problems
Dental problems
Gastrointestinal, renal, and urinary tract anomalies/problems
Epilepsy
Hematologic disorders
Skin conditions
Chapter 18 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

6. Neurodevelopment and Behavior
Delayed development
Gross motor
Language
Cognitive
Increased risk: behavioral, emotional, psychiatric problems
Other diagnoses:
ADHD, autism spectrum disorder, regression
Neuropathology of Alzheimer’s at age 45
75% meet criteria for dementia at age 65
Chapter 18 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

7. Evaluation and Treatment
Routine monitoring, increased vigilance
Ongoing, regular evaluations
Congenital heart disease
Hearing, sight
Obstructive sleep apnea
Congenital hypothyroidism
Dental visits
Radiographic
Chapter 18 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

8. Intervention Inform parents with balanced view Print materials
Early intervention point-of-contact
Support groups, respite care information
Educational program
Should balance inclusion in learning environments and therapy
Individualized education program based on developmental and educational strengths and needs
Use visual aids
Alternative therapies
Most commonly, combination nutritional therapy
Most not proven to be effective
Some improvement with donepezil
Chapter 18 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

9. Outcome Significant improvement since the 1970s Parent advocacy groups
Pioneered trend toward inclusion
Challenges:
Medical complications
Bullying, ostracism
Lack of certain adult milestones (e.g., driver’s license)
Lack of adequate services, supports in adulthood
Increased life expectancy (age 60)
Supported employment benefits
Chapter 18 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

10. Summary Characteristics: Recognizable pattern of physical features
Increased risk for specific medical problems
Intellectual disability
Early identification, early intervention services
Standards of care:
Evaluation
Periodic monitoring
Vigilance for frequent medical conditions
Chapter 18 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.