Tag Archives: Turner Syndrome

Genetic Syndromes Associated with Congenital Heart Disease

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Introduction

Studies show that approximately 30% of congenital heart disease is related to genetic syndromes. awareness of these genetic syndromes can help in the planning of the individual’s care management.

The following are common genetic syndromes associated with congenital heart disease:

Down Syndrome. Studies show that congenital heart disease occurs in 40-50% of individuals with Down syndrome specifically atrioventricular canal defects. It is suggested that echocardiograms should be performed at diagnosis.

Turner Syndrome. Heart issues are common in 24-45% of girls diagnosed with Turner syndrome. The most common abnormalities are bicuspid aortic valve (16%). The researcher suggests that all Turner patients should have a baseline cardiologic exam.

22q11.2 deletion Syndrome.  In most cases, congenital heart defects is the cause of death. It is recommended that both an EKG and and EEG be done at the time of the diagnosis with ongoing follow-up.

Williams Syndrome. Approximately 75-80% of individuals born with Williams syndrome have a cardiac malformation. Hypertension is often developed in about 50% of people with Williams syndrome and continues to increase overtime.

Reference

Ko, JM (2015). Genetic Syndromes Associated with Congenital Heart Disease.  The Korean Society of Cardiology. 45 (5) 357-361

Turner Syndrome Awareness Month

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Date: February 1-February 28, 2022

What is Turner Syndrome?

It is a rare disease that occurs in between one and 2,000 birth only affecting females. Turner Syndrome has several names including Ullrich-Turner Syndrome, Bonnevie-Ullrich-Turner Syndrome. gonadal dysgenesis and 45X. This rare disease is the result of the absence of one set of genes from the short arm of one X chromosome.

Characteristics of Turner syndrome include facial and physical appearance, cognitive characteristics, clinical issues and mental healthy symptoms. No two people with Turner syndrome are exactly the same therefore, not everyone will display the same characteristics:

Facial Appearance
  • down-turning eyelids
  • low-set and prominent ears
  • small jaw
  • high narrow roof of mouth
  • neck webbing
Physical Appearance
  • broad chest with widely spaced nipples
  • narrow fingernails and toenails
  • hand and feet swelling
  • short fingers
  • smaller than average height
  • skin moles
Medical Issues
  • chronic middle ear infections
  • hearing loss
  • heart, liver and kidney abnormalities
  • delayed puberty
  • undeveloped ovaries
  • greater risk for diabetes
  • high risk for celiac
  • high risk for osteoporosis
  • GERD
  • scoliosis
  • hypertension
  • high risk obesity
  • may not have menstruations
Cognitive
  • normal intelligence in some cases
  • issues with visual spatial
  • nonverbal memory
  • executive function issues
  • difficulty in understanding social cues
  • behavior issues.
Mental Health
  • low-self-esteem
  • anxiety
  • depression

Resources

Website: February & Everyday Awareness – Turner Syndrome Foundation

What is Turner Syndrome?

The Turner Syndrome foundation offers activities scheduled for the month of February including downloading a social  media packet.

 

What is Turner Syndrome?

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February is Turner Syndrome Awareness Month. It is a rare disease that occurs in between one and 2,000 birth only affecting females. Turner Syndrome has several names including Ullrich-Turner Syndrome, Bonnevie-Ullrich-Turner Syndrome. gonadal dysgenesis and 45X. This rare disease is the result of the absence of one set of genes from the short arm of one X chromosome.

Special Needs Challenges

While girls and women with Turner Syndrome usually have normal intelligence, there is a risk of learning disabilities involving spatial concepts including math and memory and ADHD

Teaching Strategies:

Young girls diagnosed with Turner Syndrome during their early development may have delays in learning the alphabet, speech, difficulty in following one command at a time and conceptual difficulties such as up and down. Signs and symptoms of math or dyscalculia challenges include difficulty with counting money, estimating time, losing track when counting and remembering phone numbers or zip codes. The following strategies should be used when teaching students diagnosed with Turner Syndrome:

  • Use flashcards to aid in memory as well as workbooks, games and video’s.
  • Break learning into smaller steps by using a task analysis framework.
  • Administer probing and feedback as a check in
  • Model instructional practices
  • Provide prompts
  • Use visuals such as diagrams, graphics and pictures.
  • Give clear directions
  • Use multiple models including visual and auditory learning models
  • Make sure directions are clear
  • Allow time to process and take notes

 

Resources

Associations
Turner Syndrome Foundation
Turner Syndrome Society of the United States
Turner Syndrome Support Society- UK