Down Syndrome: Genetics and Symptoms

Down Syndrome

Genetics

• Caused by a chromosomal abnormality, specifically an extra copy of chromosome 21 (trisomy 21)
• Occurs in about 1 in every 800 births
• Risk of Down syndrome increases with advanced maternal age (over 35 years)

Symptoms

• Physical characteristics:
  • Short stature
  • Flat facial profile
  • Small ears
  • Small hands and feet
  • Poor muscle tone
• Intellectual disability (mild to moderate)
• Delayed speech and language development
• Increased risk of heart defects, vision problems, and hearing loss

Diagnosis

• Prenatal diagnosis:
  • Chorionic villus sampling (CVS) at 10-12 weeks
  • Amniocentesis at 15-20 weeks
• Postnatal diagnosis:
  • Physical examination
  • Chromosomal analysis (karyotyping)
• Screening tests:
  • Maternal serum screening (AFP, hCG, estriol)
  • Ultrasound examination

Early Intervention

• Early intervention programs:
  • Physical therapy
  • Occupational therapy
  • Speech therapy
  • Special education
• Benefits:
  • Improved cognitive and motor skills
  • Enhanced language development
  • Increased independence
  • Better social skills

Treatment

• No cure for Down syndrome, but treatment focuses on managing associated medical conditions
• Medications for:
  • Heart defects
  • Seizures
  • Sleep apnea
  • Thyroid problems
• Surgery for:
  • Heart defects
  • Vision problems
• Multidisciplinary approach:
  • Pediatricians
  • Geneticists
  • Speech therapists
  • Occupational therapists
  • Physiotherapists

Down Syndrome

Genetics

• Down syndrome is caused by a chromosomal abnormality, specifically an extra copy of chromosome 21 (trisomy 21).
• The condition occurs in about 1 in every 800 births.
• Advanced maternal age (over 35 years) increases the risk of Down syndrome.

Symptoms

• Physical characteristics of Down syndrome include:
  • Short stature
  • Flat facial profile
  • Small ears
  • Small hands and feet
  • Poor muscle tone
• Intellectual disability in individuals with Down syndrome can range from mild to moderate.
• Delayed speech and language development are common symptoms.
• Individuals with Down syndrome are at increased risk of:
  • Heart defects
  • Vision problems
  • Hearing loss

Diagnosis

• Prenatal diagnosis of Down syndrome can be done through:
  • Chorionic villus sampling (CVS) at 10-12 weeks
  • Amniocentesis at 15-20 weeks
• Postnatal diagnosis involves:
  • Physical examination
  • Chromosomal analysis (karyotyping)
• Screening tests for Down syndrome include:
  • Maternal serum screening (AFP, hCG, estriol)
  • Ultrasound examination

Early Intervention

• Early intervention programs for Down syndrome include:
  • Physical therapy
  • Occupational therapy
  • Speech therapy
  • Special education
• Benefits of early intervention programs include:
  • Improved cognitive and motor skills
  • Enhanced language development
  • Increased independence
  • Better social skills

Treatment

• There is no cure for Down syndrome, but treatment focuses on managing associated medical conditions.
• Medications may be used to treat:
  • Heart defects
  • Seizures
  • Sleep apnea
  • Thyroid problems
• Surgery may be necessary to treat:
  • Heart defects
  • Vision problems
• A multidisciplinary approach to treatment involves a team of healthcare professionals, including:
  • Pediatricians
  • Geneticists
  • Speech therapists
  • Occupational therapists
  • Physiotherapists