Down Syndrome

Clinical Condition Overview 

Brief summary of condition 

• Down syndrome or Trisomy 21, is a genetic condition resulting from an extra copy of chromosome 21. This chromosomal difference leads to developmental delays, characteristic physical traits, and variable cognitive abilities. Down syndrome is one of the most common chromosomal conditions, occurring in approximately 1 in every 700 live births (CDC, 2023).

Signs and Symptoms

• Hypotonia (low muscle tone)
• Joint hypermobility and ligamentous laxity
• Flattened facial features, upward-slanting eyes
• Short stature, small hands and feet
• Developmental delays in motor, language, and cognitive domains
• Congenital heart defects, thyroid dysfunction, vision/hearing impairments, and sleep apnea

Pathology/Onset

• Caused by an extra full or partial chromosome 21 due to nondisjunction, translocation, or mosaicism.
• Detected prenatally through noninvasive prenatal testing (NIPT), chorionic villus sampling, or amniocentesis.
• Severity varies depending on genetic presentation and individual health factors.

Role of Rehabilitation

• OT
  • Enhances fine-motor coordination, self-care, and play participation.
  • Focuses on adaptive behavior, sensory integration, and self-feeding skills.
  • Promotes independence in ADLs and school readiness.
  • Educates families on home strategies, adaptive equipment, and daily routines.
    
• PT
  • Addresses low muscle tone, postural control, and delayed motor milestones.
  • Uses play-based approaches for crawling, standing, and walking.
  • Improves strength, balance, and gait safety.
  • Prevents secondary complications like flat feet or joint instability.
• SLP
• • Provides early feeding and swallowing support.
  • Improves expressive/receptive language, articulation, and social communication.
  • Uses visual supports, sign language, and AAC (augmentative and alternative communication) tools.
  • Supports school-age children with literacy and pragmatic language.

Evaluation

• Evaluations are multidisciplinary, focusing on family-centered goals and culturally responsive care.
  • OT: Peabody Developmental Motor Scales (PDMS-2), Sensory Profile, and ADL checklists.
  • PT: Gross Motor Function Measure (GMFM), balance and gait assessments, muscle tone evaluation.
  • SLP: Preschool Language Scale (PLS-5), Clinical Evaluation of Language Fundamentals (CELF), oral-motor and feeding assessments.

Treatment

• Early Intervention Programs: Promote cognitive, motor, and communication milestones.
• Task-Oriented Therapy: Builds functional independence through play-based practice.
• Sensory-Motor Integration: Enhances attention, regulation, and participation.
• Oral-Motor & Feeding Therapy: Improves jaw stability, chewing, and swallowing coordination.
• Parent/Caregiver Coaching: Empowers families with strategies for daily life.
• Inclusive Participation: Encourages engagement in community and educational activities.

Helpful Resources 

• Podcast: The LowDown, Down Syndrome Center Podcast
• Resources: The LowDown Podcast 
• Visual schedule apps: Choiceworks, Thruday, Tiimo, Goally 
• Families and Caregivers 
• Health Care Professionals
• Sensory Processing 
• Down Syndrome Diagnosis Network
• NDSS
• CDC

References 

• Centers for Disease Control and Prevention. (2023). Facts about Down syndrome. https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
• Global Down Syndrome Foundation. (2022). Medical care guidelines for adults and children with Down syndrome.
• National Down Syndrome Society. (2024). Therapy and education resources.