Sample Syllabus
PD Guide
PowerPoint:
This presentation explores how losses of genetic material—ranging from visible deletions to microdeletions—affect the development of infants and young children. It introduces key syndromes such as Smith-Magenis, Williams, Velocardiofacial (22q11.2), and 1p36 Deletion Syndrome, highlighting shared traits like hypotonia, developmental delays, and distinctive facial or medical features. The presentation links these biological foundations to early-intervention practice through family-centered role-play and case studies that help professionals communicate complex genetic findings with empathy. Ethical and educational discussions emphasize inclusive planning, individualized supports, and collaboration among families, genetic counselors, and developmental specialists.
Case Study
Case Study: Chromosomal Deletion
Leo is a 30-month-old boy with 1p36 Deletion Syndrome who is experiencing global developmental delays, sensory sensitivities, and emerging communication needs. Follow Leo and his family as they move through screening, genetic testing, assessment, IFSP development, and transition planning.
Learning Activities
Multimedia Illustrations
- Title with a description
- Link to video
- Suggested citation
- Length of the video
- EI/ECSE standard
- DEC Recommended Practice
Resources
· CEC Initial Practice-Based Professional Preparation Standards for EI/ECSE (2020)
· Center for Parent Information and Resources
· Early Childhood Recommended Practices Modules (Module 1)
· Learn the Signs. Act Early
· Understanding Rare Chromosome and Gene Disorders
· Ip36 Deletion
· National Center for Advancing Translational Sciences
· Prader-Willi Syndrome
· Angelman Syndrome
· 22q11.2 deletion syndrome
· 5q deletions: Current knowledge and future directions
· Professional Standards and Competencies for Early Childhood Educators
· Cognitive and Behavior profiles

Purpose
Students will be able to identity what a chromosome deletion and abnormality is, traits chromosome deletions have in common, and lifelong impacts of individuals and families who have chromosome deletions and abnormalities. Contemporary issues surrounding chromosome deletions and abnormalities will be addressed, including, but not limited to family lifestyle, early childhood development and learning, and an overview of chromosome deletions. Students will be assessed by way of activities, reflection papers, and presentations.
Objectives
As a result of active participation and successful completion of course requirements, students will be able to:
- Identify chromosome deletion and abnormality.
- List traits deletions and abnormalities have in common.
- Define accompanying conditions children can exhibit.
- List lifelong impacts for children with chromosome deletions and abnormalities.
Syllabus
Related Materials
Multimedia Illustrations
| Title | Key Content | Duration | Link |
| Chromosomal Deletion, Inversion, Duplication and Translocation | Under certain circumstances (i.e., exposure to x-ray radiation), a fragment of a chromosome can break off and lead to some form of chromosomal abnormality. | 8:25 | View |
| Chromosomal mutations/ deletion mutation | Chromosomal mutations/ deletion mutation - lecture explains about substitution, deletion mutation. | 11:52 | View |
| Chromosomal Deletions and Duplications | Explanation of chromosomal duplication and deletions with drawings | 25:29 | View |
Resources
Several different types of resources are included in this section to support the development of knowledge and practices in partnering with families. These include websites, learning modules, and a glossary.
Websites
- 5q deletions: Current knowledge and future directions
- 22q11.2 deletion syndrome
- Angelman Syndrome
- Cognitive and Behavior profiles
- CEC Initial Practice-Based Professional Preparation Standards for EI/ECSE (2020)
- Center for Parent Information and Resources
- Cincinnati Children’s VCFS
- Early Childhood Recommended Practices Modules (Module 1)
- Genetics Education Materials for School Success (GEMSS)
- Golisano Children’s Hospital VCFS
- 1p36 Deletion
- National Center for Advancing Translational Sciences (GARD)
- National Organization for Rare Disorders (NORD)
- Parents & Researchers Interested in Smith-Magenis Syndrome (PRISMS)
- Prader-Willi Syndrome
- Learn the Signs. Act Early (CDC)
- Professional Standards & Competencies for Early Childhood Educators (NAEYC)
- Stanford Children’s Health
- Understanding Rare Chromosome & Gene Disorders
- UCSF Benioff Children’s Hospital
- Velocardiofacial syndrome (Genome.gov)
- Williams Syndrome Association
Learning Modules
The modules can be used in their entirety or by selecting sections or content that support the objectives of an IHE course or PD content.
Glossary
Glossary: Key terms defined. References/resources may provide additional background specific to Early Intervention/Early Childhood Special Education.
| Term | Definition | Reference/Resource |
|---|---|---|
| Early term infants | Infants born between 37 weeks and 39 weeks. | Mayo Clinic |
| Chromosome | Organized packages of DNA found in the nucleus; humans have 23 pairs (22 autosomes and one pair of sex chromosomes). | Genome.gov |
| Chromosome deletion | Loss of a chromosome segment (terminal or interstitial); very small losses are termed microdeletions. | MedlinePlus Genetics |
| Examples of deletion syndromes | Cri-du-chat syndrome; 22q11.2 deletion syndrome. | GARD: Cri-du-chat | GARD: 22q11.2 deletion |
| DNA (Deoxyribonucleic Acid) | Molecule carrying genetic instructions; two strands form a double helix. | Genome.gov |
| Genetic counseling | Information and support regarding genetic conditions based on personal/family history and testing. | CDC |
| DNA microarray | Technology used to test for genome-wide copy number changes (CMA). | Genome.gov |
| Monosomy | Presence of a single copy of a chromosome rather than the usual pair. | Genome.gov |
| RNA (Ribonucleic Acid) | Single-stranded nucleic acid; includes mRNA, rRNA, and tRNA. | Genome.gov |
| Translocation | Chromosomal abnormality where a segment breaks off and reattaches to a different chromosome. | Genome.gov |
