Down Syndrome

Definition

 Down syndrome is a genetic disorder caused by an extra copy of chromosome 21, leading to intellectual and developmental disabilities.

Types
  1. Trisomy 21: An extra copy of chromosome 21.
  2. Mosaicism: A mixture of cells with 46 and 47 chromosomes.
  3. Translocation: A part of chromosome 21 breaks off and attaches to another chromosome.

Key Signs and Symptoms:

  1. Intellectual disability: Delayed cognitive development and intellectual disability.
  2. Delayed speech and language: Delayed speech and language development.
  3. Physical characteristics:
  • Flat face
  • short neck
  • protruding tongue
  • upward-slanting eyes.

    4.Low muscle tone: Hypotonia, or low muscle tone.

Observable Traits :
  • Facial features: Flat face, short neck, and upward-slanting eyes.
  • Short stature: Individuals with Down syndrome tend to be shorter than average.
  • Delayed gross motor skills: Delayed development of gross motor skills, such as walking and balance.
Risk Factors:
  1. Causes: Advanced maternal age, family history, and genetic mutations.
  2. Age Group: Down syndrome affects individuals of all ages, but it is typically diagnosed at birth or during early childhood.
Common Scenarios:
  • Advanced maternal age: Women over 35 years old are at higher risk.
  • Family history: A family history of Down syndrome or other genetic disorders increases the risk.
  • Genetic mutations: Certain genetic mutations, such as translocations, increase the risk.
Assessment:

Speech and Language at Speech-sy’s  is assessed through:-

  • Clinical evaluation: A comprehensive clinical evaluation to assess speech and language skills.
  • Standardized tests: Standardized tests, such as the Clinical Evaluation of Language Fundamentals (CELF), to assess language skills.
  • Observational assessment: Observational assessment of communication skills in naturalistic settings.
Management:

Speech-sy’s Therapy Approach:

  1. Augmentative and Alternative Communication (AAC): Using alternative methods, such as pictures or electronic devices, to support communication.
  2. Speech Generating Devices (SGDs): Using electronic devices that generate speech to support communication.
  3. Naturalistic Developmental Behavioral Interventions (NDBI): Using naturalistic and developmental approaches to support communication and behavior.

Technology which can improve speech and language skills includes:

  1. Mobile apps: Using mobile apps, such as AAC apps, to support communication.
  2. Tablet-based interventions: Using tablet-based interventions, such as SGD apps, to support communication.
  3. Virtual reality (VR) therapy: Using VR therapy to support communication, social skills, and behavior.
Other Methods:
  1. Applied Behavior Analysis (ABA): Using ABA techniques to support behavior and communication.
  2. Occupational Therapy (OT): Using OT techniques to support sensory integration, fine motor skills, and daily living skills.
  3. Parent-Child Interaction Therapy (PCIT): Using PCIT to support parent-child interaction and communication.
Outcomes:
  1. Improved communication skills: Individuals with Down syndrome may experience improved communication skills, including increased vocabulary and sentence structure.
  2. Increased social participation: Individuals with Down syndrome may experience increased social participation, including improved relationships and social interactions.
  3. Improved daily living skills: Individuals with Down syndrome may experience improved daily living skills, including increased independence and participation in daily activities.