Chapter 18 Down Syndrome (Trisomy 21)

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Presentation transcript:

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.

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.

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.

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.

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.

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.

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.

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.

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.

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 https://www.youtube.com/watch?v=AAPmGW-GDHA https://www.youtube.com/watch?v=iv2wtBeo0Qc Chapter 18 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.