Category Archives: Down Syndrome

Trisomy Syndrome Facts and Statistics

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Trisomy 21 (Down Syndrome)
  • There are three types of Down syndrome: trisomy 21 (nondisjunction) accounts for 95% of cases, translocation accounts for about 4%, and mosaicism accounts for about 1%
  • Down syndrome is the most commonly occurring chromosomal condition. Approximately one in every 700 babies in the United States is born with Down syndrome – about 6,000 each year
  • Down syndrome occurs in people of all races and economic levels
  • The incidence of births of children with Down syndrome increases with the age of the mother. But due to higher fertility rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age
  • People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer’s disease, childhood leukemia and thyroid conditions. Many of these conditions are now treatable, so most people with Down syndrome lead healthy lives
  • A few of the common physical traits of Down syndrome are: low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm. Every person with Down syndrome is a unique individual and may possess these characteristics to different degrees or not at all
  • Life expectancy for people with Down syndrome has increased dramatically in recent decades – from 25 in 1983 to 60 today
  • People with Down syndrome attend school, work, participate in decisions that affect them, have meaningful relationships, vote and contribute to society in many wonderful ways
  • All people with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and is not indicative of the many strengths and talents that each individual possesses

The incidence of Down syndrome is between I in 1000 to 1 in 1,100 live birth worldwide.

  • Each year, approximately 3,000 to 5,000 children are born with Down syndrome.
  • 60-80% of children with Down syndrome having hearing issues
  • 40-45% of children with Down syndrome have congenital heart disease

 

Trisomy 18 (Edwards Syndrome)
  • It is also known as Edwards Syndrome
  • It is a condition caused by an error in cell division
  • An extra chromosome in 18 develops
  • Occurs in 1 out of every 2500 pregnancies in the United States
  • It is 1 in 6000 live births
  • Only 50% of babies who are carried to term will be born alive
  • Children are often born with heart defects
  • Features include a small head, small jaw, clenched fists and severe intellectual disabilities
  • It is named after John Hilton Edwards, who first described the syndrome in 1960
  • It affects different organ systems
Trisomy 13 (Patau Syndrome)
  • Trisomy 13 is the presence of an extra chromosome 13 in all cells
  • Mosaic trisomy 13- the presence of an extra chromosome in some of the cells
  • Partial trisomy 13- the presence of a part of extra chromosome 13 in the cells
  • Occurs in about 1 out of every 5,000 to 16,000 newborns
  • The brain is mostly affected
  • Most children tend to have a heart defect
  • Was first described in 1657
  • 44% of babies born die within the first month of birth
  • In the first month of birth, 69% die by 6 months
  • Only 18% reach their first birthday
  • It is not inherited
  • Are usually born with an intellectual disability.

Demographic Characteristics, Health Conditions, and Residential Service Use in Adults with Down Syndrome in 25 States

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Introduction

The study describes the demographic characteristics and health conditions of individuals with Down syndrome living in a residential setting. The purpose of the study is to analyze health conditions, and impairments across the adult life span.

Methodology

The data was collected from the National Core Indicator Survey from 25 participating states. The sample included 1,199 individuals diagnosed with Down syndrome.

Findings

The researchers concluded the following:

  • Adults diagnosed with Down syndrome comprise of 10 percent of the population using intellectual and developmental disability services in their states.
  • Similar to people diagnosed with an intellectual and developmental disability, people with Down syndrome impairments increased as they grow older.
  • Alzheimer disease is still prevalent among people with Down syndrome.
  • Adults with Down syndrome were more likely to report being overweight. This is especially true for women.
  • People with Down syndrome are more likely to live at home with their parents than residing in a residential facility.

 

Reference

Stancliffe, R.J.; Lakin, K.C.; Larson, S.A.; Engler, J.; Taub, S.; Fortune, J.; Berkshadsky.J. (2012). Demographic Characteristics, Health Conditions, and Residential Service Use in Adults with Down Syndrome in 25 States. Intellectual and Developmental Disabilities. 50(2), 92-108. DOI:1352/1934-9556:50.2.92

Mosaic Down Syndrome

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There are 3 types of Down syndrome disorders with mosaic being the rarest. 90 to 95% of people with Down syndrome have trisomy for chromosome 21. According to researchers, 2-4% of people with Down syndrome have mosaicism.

What is Down Syndrome?

Down Syndrome  is a chromosomal disorder caused by an extra cell division that results in an extra 21st chromosome. This causes developmental delays both intellectually and physically. It is the most commonly occurring chromosomal condition and is estimated that 1 in every 700 babies in the United States are born with Down syndrome.

Mosaicism

Mosaicism or Mosaic Down syndrome develops when there is a mixture of cells meaning some cells contain the extra copy of chromosome 21 while other cells are typical chromosomes.

Prevalence
  • It is estimated that 2 or 3 children diagnosed as having Down syndrome carry the mosaic form.
  • Mosaicism for trisomy 21 was first reported in 1961 by CM Clark, JH Edwards and V. Smallpeice who describe an 11-month old female with good muscle tone, no congenital heart defects, meeting developmental miles yet with eyes similar to babies born with Down syndrome.
  • By 1964, 24 cases of mosaicism were now on record.
  • Little is still known on the similarities and differences between trisomy 21 and mosaic trisomy.
Signs and Symptoms

People with Mosaic Down symptoms often have the same health issues as individuals with trisomy but less severe. This includes:

  • sleep apnea
  • heart issues
  • visual impairments
  • immune disorders
Physical Characteristics

People with Mosaicism vary in physical appearance depending on the number of trisomy cells.

People with Mosaic Down syndrome typically have a higher IQ and are more likely to hold a fulltime job compared to people with trisomy 21 Down syndrome.

Screening Test

Screening test are usually done as routine test during pregnancy health visits.

Updated 5/20/21

Person First Language For Special Needs Professionals

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Here are some resources on people first language

Disability etiquette and person first language- Niagara University First Responders

Examples of People First Language- by Kathie Snow

Getting started with person-first language-Edutopia

People first language- District of Columbia Office of Disability Rights

People first language- Texas Council of Developmental Disabilities

Person First Language 101- JJslist

Using people-first language when describing people with disabilities– Very Well Family

What is person-first language and why is it important? – Laguna Shores

Identify First Language

Autistic person or person with autism: Is there a right way to identify people?– Molly Calahan

Identity- first language– Autistic Self-Advocacy Network

Identity first vs. person first: An important distinction– Association of Healthcare Journalist

This is how to talk about disability according to disabled people- Bustle

Updated 2/17/21

Low Tech Augmentative and Alternative Communication (AAC) You Should Know About

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You may be working with a child or an adult that uses an AAC communication device. Are you familiar with low-tech AAC devices?

According to Beukelman and Mirenda (2013), an estimated 1.3 percent of Americans cannot meet their daily needs communication needs using natural speech. Using low-tech AAC is one way to help children and adults with limited communication skills.

What is AAC?

AAC or Augmentative and Alternative Communication includes various methods of communication systems including communication devices, strategies and tools that helps a person communicate their wants, needs and thoughts specifically for children and adults who have limited communication skills.

What are the benefits of using AAC?

Studies show improvement in language development, literacy and communication among users including the use of picture exchange. There is also research that shows people working with an AAC are able to:

  • take turns appropriately
  • request items
  • decrease challenging behavior
  • improve receptive and expressive skills.
Who uses an AAC?

Children with developmental delays including motor, cognitive and physical limitations including children and adults with:

AAC Terminology You Should Know

Communication board- based on the cognitive and physical ability of the person, it is often organized by topic

Eye gaze- used in low-tech AAC by the person looking at an object and selecting the correct item using either the communication board or booklet.

Low-Tech- basic communication aids that include pictures, letters, words, symbols, communication board or picture books that cannot be changed or altered.

The following are links tp AAC core words:

AAC Core Words

70 kids picture books to target core vocabulary AAC (Omazing Kids)

100 High Frequency Core Word List (AAC Language Lab)

Core Word of the Week– The Center for AAC and Autism

Teaching Core Vocabulary– (Praatical AAC)

Low Tech AAC Boards

Eat, Think and Speak– a blog written for medical Speech and Language Pathologist on topics relating to swallowing, communication and cognition. Provides a blog article on free low-tech material including a wide variety of premade communication boards

Project Core– Provide free sample lesson plans focusing on talking with one word at a time to using correct grammar and word order.