Mosaic Down Syndrome

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

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

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.

 

Signs of Autism Spectrum Disorder in Children with Down Syndrome

Signs and symptoms of Down syndrome is fairly easy to detect especially since there are specific physical characteristics of the disorder. But what if there is also a diagnosis of autism?

Studies show that 5 to 39% of children with Down syndrome are also on the autism spectrum. There are overlaps in some of the symptoms which delays the signs and symptoms of autism. This observation is slowly growing and informing parents and educators  to observe for specific signs and symptoms.

It is possible that educators and therapist may be the first to notice that children with Down syndrome also display characteristics that are similar to autism.

Why is it important?

According to authors Margaret Froehlke and Robin Zaborek from the book, When Down Syndrome and Autism Intersect, The education approach in both Down syndrome and autism will be different than for children with a single diagnosis of Down syndrome including accommodations and writing the IEP. Teaching strategies will also differ. Teaching a student with Down syndrome who require tactile demonstrations, simple directions, and immediate feedback will now require concrete language, social stories, the use of few choices and the use of concrete language.

The importance of getting the diagnosis
Most often children with Down syndrome are treated for the characteristics of having Down syndrome which overlooks giving children the appropriate treatment for Autism such as social skills and sensory issues. A child or young adult with both diagnosis will likely experience aggressive behaviors, meltdowns, and show signs of regression during their early development. The following are signs and symptoms to look for in your child, or student:
  • Hand flapping
  • Picky eater
  • Echolalia
  • Fascination with lights
  • Staring at ceiling fans
  • History of regression
  • Head banging
  • Strange vocalization
  • Anxiety
  • Seizure Disorder

Signs of overlap include:

As the student gets older, there may be ongoing issues with sensory disorders and transitions leading to meltdowns

Additional Resources:

Autism and Meltdown Resources

Printable Down Syndrome Fact Sheet

 

Reference

When Down Syndrome and Autism Intersect: A Guide to DS-ASD for
Parents and Professionals

By Margaret Froehlke, R. N. & Robin Zaborek, Woodbine House, 218 pp.

Updated 1/12/2021

Thanksgiving and Mealtime Precautions

mealtime_thanksgiving_logo

Thanksgiving is the day set aside in the United States and Canada as a day of pausing to reflect all that we are thankful for by connecting with friends and family over good food. It is also the day of taking special precautions when serving people with developmental disabilities.

Aspiration is a huge risk during the holiday season. Factors that place people at risk for aspiration includes the following:

  • Being fed by someone else
  • Poor chewing or swallowing skills
  • Weak or absent coughing/gagging reflexes which is common in people with cerebral palsy or muscular dystrophy
  • Eating to quickly
  • Inappropriate fluid consistency
  • Inappropriate food texture

For children and adults with autism, Thanksgiving may be a challenge for a variety of reasons:

  • Sensory and emotional overload with large groups
  • Picky eaters
  • Difficulty with various textures of food

To help you mange Thanksgiving with ease, click on the articles below:

5 simple steps to hosting an autism-friendly Thanksgiving

8 tips for managing Thanksgiving with children with autism

10 genius ways to help your autistic picky eater to eat this Thanksgiving

Autism and Picky Eating

Autism and Thanksgiving: How to cope with the feasting and hubbub

Feeding kids with sensory processing disorders

Preparing for Thanksgiving on the autism spectrum

Swallowing problems? What to do about Thanksgiving

Thanksgiving dinner ideas for speech therapy activities

Tips for Navigating Thanksgiving on the Spectrum

 

Updated 08/26/2020