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 diagnoses 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:

  1. Receptive motor behavior
  2. receptive language challenges
  3. picky eater
  4. increase anxiety
  5. self-injurious
  6. sensory sensitivities

 

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

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 on 7/17/24

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 7/3/24

Trisomy Syndrome Facts and Statistics

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.

Down Syndrome and Heart Disease

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. The disorder is named after John Langdon Down, a British physician who was the first to describe the syndrome in 1866. The disorder was later identified by Jerome LeJeune in 1959 as a condition associated by the chromosome structure. Down syndrome is the most common chromosome disorder. Each year, about 6,000 babies are born with Down syndrome.

An estimate of 1 in 700 babies born. The life expectancy of people with Down syndrome increased between 1960 and 2007. In 1960, an average person with Down syndrome lived to be 10 years old compared to 2007 with people with Down syndrome living to 47 years of age. Often, people born with Down syndrome may develop health issues and a cognitive development ranging from mild to severe. There is often a speech delay and children may lag behind with fine and gross motor skills. Physical characteristics may include a flat nasal bridge, single, deep creases across the center of the palm, protruding tongue, large space between the large and second toe, low muscle tone, almond shape to the eyes.

 

The causes of Down syndrome is due to an extra copy of chromosome 21 in every cell. This is the most common form of Down syndrome. It represents 94% of all cases of Down syndrome. Congenital  heart failure affects 300,000 or 40% of individuals with Down syndrome. There are 3 types:

  • atrioventricular septal defect (AV Canal)- a condition caused by the Septum failure to close properly. This occurs during the embryonic stage and results in a large opening at the center of the heart.
  • Persistent Ductus Arteriosus- when a tube that continues to exists after a baby is born. It is a persistent opening between the two major blood vessels leading from the heart.
  • Tetralogy of Fallot- a heart condition composed of four abnormalities: 1) Ventricular Septal Defect 2) a narrowing of the passage from the right ventricular to the lungs 3) an over enlarged right ventricle due to blood back up 4) an over enlarged aorta, which carries blood from the left ventricle to the body.

Congenital Heart Disease can range from severe to mild. Typically, students do not require special care. For those with more severe heart issues, be aware of the signs and symptoms of a student heart disease is getting worse. This include:

  1. Arrhythmia, an abnormal heart rhythm that can cause the heart to beat fast or too slow
  2. Congenital heart failure- when the heart cannot pump enough blood and oxygen to meet the needs of the body.
  3. Pulmonary hypertension- a type of high blood pressure that affects the arteries in the lungs and the right side of the heart.

Signs and symptoms include:

  • shortness of breath
  • fatigue and weakness
  • swelling
  • rapid or irregular heartbeat
  • persistent cough

Things to be aware of in students with Heart Issues:

Tires easily or becomes short of breath after exercise

May have exercise restrictions

May need extra time to go and from classes

 

Resources

Related articles

Down Syndrome and Obesity

Obesity is a major health concern and is more common in individuals with Down syndrome than the general population. Obesity is defined as excessive fact accumulation that increases health risk. It is an abnormal accumulation of body fact usually 20% of a person’s ideal body weight.

Medical complications of obesity includes sleep apnea, lung disease, pancreatitis, heart disease, cancer, arthritis, inflamed veins and gout. When the body mass increases, so does the risk of having a heart attack or heart failure.

In a study published by the American Association Intellectual and Developmental Disabilities found a difference between studies on children versus adults with Down syndrome. Children with Down syndrome have consistently been found to exhibit a reduced resting metabolic rate meaning children with Down syndrome are at a great risk for weight gain since they will burn fewer calories. at rest during activities.

Children with Down syndrome also tend to have a condition known as hypothyroidism. Approximately 10 percent of children with Down syndrome have hypothyroidism. As children with Down syndrome get older, eating behaviors change leading to obesity (Approximately 30%). These changes may be due to low muscle tone or inactivity due to thyroid problems or heart conditions.

Exercise and recreation are crucial to the well-being of individuals with Down syndrome. The following are strategies for helping to maintain weight control and to live longer and healthier lives:

  1. Develop a regular exercise program. According to Drs. Chicoine and McGuire, authors of The Guide to Good Health for Teens and Adults with Down syndrome, Exercise should be free of risk. Push ups and weightlifting are not appropriate due to many people with Down syndrome who have issues with the upper 2 vertebrates.
  2. Swimming is an effective exercise. Many pool have walking exercises in the pool as well.
  3. Exercise should be fun, socially and realistic.
  4. For older adults with Down syndrome, look for teachable moments to teach portion control, drinking enough fluids, and eating a well-balanced meal.

Reference

Chicoine, B. and McGuire, B. (2010). The Guide to Good Health for Teen and Adults with Down Syndrome. Bethesda, MD

25 Resources on 504 Accommodations and Modifications

Section 504 is a federal law designed to protect the rights of individuals with disabilities in programs and activities that receive Federal financial assistance from the U.S. Department of Education (Edefines a physical or mental impairment as any physiological disorder or condition, cosmetic disfigurement, or anatomical loss affecting one or more of the following body systems: neurological; musculoskeletal; special sense organs; respiratory, including speech organs; cardiovascular; reproductive; digestive; genito-urinary; hemic and lymphatic; skin; and endocrine; or any mental or psychological disorder, such as mental retardation, organic brain syndrome, emotional or mental illness, and specific learning disabilities.  

5 important classroom accommodations for children with autism

12 accommodations and modifications for dyslexic children in public school

20 modifications for students with autism

21 school accommodations available for children with special needs

504 accommodation checklist

504 plan: ADHD accommodations to manage ADHD symptoms at school

504 plan templates

A 504 plan for those with dyslexia

A parents guide to section 504

504 Education Plans

504 Plan: What is it?

Accommodations and supports for school-age students with autism

Accommodations for ADHD students K-12 in the classroom

Accommodations for students with learning disabilities

Classroom accommodations for ADHD

Classroom accommodations for dyslexic students

Classroom accommodations for students with epilepsy

Developing 504 Classroom accommodation plans

Dyslexia accommodations: How to know what your child needs

Dyslexia and accommodations- ADA guidelines for school and work

Examples of accommodations and modifications

Modification for students with Down syndrome

Section 504 and Discrimination

Section 504: sample accommodations and modifications

What are school accommodations and modifications for students with Asperger’s?

2019 Disability Awareness Month and Observance Calendar

Annual awareness observances are sponsored by federal, health and non-profit organizations. Awareness campaigns serve the purpose of informing and educating people on a certain causes. Each year, the number of special needs organizations bringing awareness to specific disabilities and disorders seem to grow. Awareness activities range from one day to a month.
Here is a calendar of major special needs awareness months, weeks, and days. Most websites include awareness toolkits, promotional materials and fact sheets. Since it is still early in the year, some of the campaigns still have 2018 campaigns on their websites. I will add new information once the changes are up on the websites.

January

National Birth  Defects Month

January 4- World Braille Day

January 20- International Day of Acceptance

January 24- Moebius Syndrome Awareness Day

February

Turner Syndrome Awareness Month

February 15- International Angelman Day

February 28- Rare Disease Day

March

Cerebral Palsy Awareness Month

Developmental Disabilities Awareness Month

Kidney Awareness Month

Multiple Sclerosis Month

Social Work Awareness Month

Trisomy Awareness Month

March 1- Self-Injury Day

March 1- International Wheelchair Day

March 21- World Down Syndrome Day

March 26- Purple Day for Epilepsy

April

April 2- World Autism Awareness Day 

May

Better Hearing and Speech Month

Ehlers-Danlos Awareness Month

Mental Health Awareness Month

National Asthma and Allergy Awareness Month

Prader Willi Awareness Month

Williams Syndrome Awareness Month

May 1- Global Developmental Delay Day

May 15- Tuberous Sclerosis Global Awareness Day

May 5-12- Cri du Chat Awareness Week

May 8-14- Brain Injury Awareness Week

June

Aphasia Awareness Month

June 17- CDKL5 Awareness Day 

June 23- Dravet Syndrome Awareness Day (Canada)

Tourette Syndrome Awareness Month

July

July 14- Disability Pride Parade (NY)

July 14- Disability Awareness Day (UK)

July 22- National Fragile X Awareness Day

September

Chiari Awareness Month

Craniofacial Acceptance Month

Duchenne Muscular Dystrophy Awareness

Fetal Alcohol Spectrum Syndrome Awareness Month

Hydrocephalus Awareness Month

National Spinal Cord Awareness Month

Sickle Cell Awareness Month

Sepsis Awareness Month

September 7- World Duchenne Awareness Day

September 9- Fetal Alcohol Awareness Day

October

ADHD Awareness Month

Disability History Awareness Month

Down Syndrome Awareness Month

Dysautonomia Awareness

National Disability Employment Awareness Month

National Dyslexia Awareness Month

Occupational Therapy Awareness Month

October 6- World Cerebral Palsy Day

October 15- White Cane Awareness Day

October 13-19 Invisible Disabilities Week

October 13-19 International OCD Awareness Week

National Physical Therapy Month

Rett Syndrome Awareness Month

Special Needs Law Month

Spinal Bifida Awareness Month

November

22q Awareness Month

Epilepsy Awareness Month

November 1- LGS Awareness Day

November 7- National Stress Awareness Day

November 15- World Ohtahara Syndrome Awareness Day

December

December 3- International Day of Persons with Disabilities

December 1-7 Infantile Spasm Awareness Week

Resources For Teaching Students with Down Syndrome

Down syndrome (Trisomy 21) is a chromosomal disorder due to 3 copies of chromosome 21, causing a number of developmental delays, medical and physical disabilities. Learning is one of the areas that is affected by the disorder. Children born with Down syndrome typically have delays in the area of gross and fine motor skills, thinking, short attention span, speech and language difficulties and sequencing. The following links and resources include information on tips and strategies for teaching children with Down syndrome for both parents and teachers.

5 tips for including students with Down syndrome in a general education classroom

10 things teachers should know about Down syndrome

Classroom strategies for Down syndrome students

Five instructional strategies for children with Down syndrome

Modifications for students with Down syndrome

Modifying your curriculum for individuals with Down syndrome

Quick tips for teaching students with Down syndrome in general education classes

Strategies for learning and teaching

Supporting the student with Down syndrome in your classroom

Teaching children with Down syndrome- 10 tips from a former teacher

Teaching children with Down syndrome to read

Teaching students with Down syndrome

Teaching tips: Special education children with Down syndrome

Tips for teaching students with Down syndrome

What students with Down syndrome want teachers to know

 

October is Down Syndrome Awareness Month

Teaching Children With Down Syndrome

 

10 things teachers should know about Down syndrome

Down syndrome-Classroom strategies

Five instructional strategies for children with Down syndrome

Homeschooling a child with Down syndrome

Including and accommodating students with Down syndrome

Inclusive education for individuals with Down syndrome

Quick tips for teaching students with Down syndrome

Strategies for Learning and Teaching

Supporting children with Down syndrome in primary school

Supporting the student with Down syndrome in your classroom

Teaching numbers to children with Down syndrome

Teaching students with Down syndrome

Tips for teaching students with Down syndrome

What students with Down syndrome want teachers to know

October is Down Syndrome Awareness Month

October is Down Syndrome Awareness Month. Down syndrome is defined as a genetic disorder caused by an extra copy of chromosome 21. I have included articles that I have posted over the years to help educate others. Please feel free to share on other social media sites.

20 facts you should know about Down Syndrome

30 Resources for World Down Syndrome Day

Down Syndrome

Down Syndrome History Timeline

Down Syndrome Organizations

Facts about Down syndrome (Infographic)

Mosaic Down Syndrome Resources

Signs of Autism and Down Syndrome

Top books on Down syndrome for parents and professionals