10 Important Facts On Trisomy 18

Today is National Trisomy Awareness Day. Below are 10 important facts on Trisomy 18.

  • 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

 

Advertisements

25 Developmental Disability Links and Resources You Should Know About

March is Developmental Disabilities Awareness month! Although I blogged  the definition of developmental disabilities here, I wanted to give you more information besides the Federal regulation. Quite often, people are confused between the definition of an intellectual disability and a developmental disability.

A developmental disability is described as an assortment of chronic conditions that are due to mental or physical impairments or both. For example, you may have a child or an adult with an intellectual disability or perhaps a person diagnosed with cerebral palsy and an intellectual disability. It is also considered a severe and chronic disability that can occur up to the age of 22, hence the word developmental. A developmental disability can occur before birth such as genetic disorders (i.e. cri du chat, fragile x syndrome,) or chromosomes ( i.e. Down syndrome, Edwards syndrome); during birth (lack of oxygen) or after birth up to the age of 22 (i.e. head injuries, child abuse or accidents).

The disability is likely to occur indefinitely meaning the person will require some type of ongoing service throughout their lives. Finally, the person must show limitations in 3 or more of the following areas of major life activities:

  1. Self-care– brushing teeth, hand-washing and combing hair independently
  2. Receptive and expressive language-ability to understand someone talking and to also be understood
  3. Learning– ability to read and write with understanding
  4. Mobility-ability to move around without any assistance
  5. Self-direction– time management, organization
  6. Capacity for independent living– requiring no supervision
  7. Economic self-sufficiency – having a job  and purchasing what one needs

The following are links to articles on various types of developmental disabilities including resources with facts and statistics, organizations, and sign and symptoms.

22q11.2 Deletion Syndrome

27 things to know about Fragile X Syndrome

ADHD- facts and statistics

Angelman Syndrome

Angelman syndrome resources

Cri Du Chat Resources

Developmental disability acronyms you should know 

Developmental disability awareness ribbons

Down syndrome-facts and statistics

Down syndrome timeline

Duchenne Muscular Dystrophy

Early Intervention- Resources and Information

Edward Syndrome Resources

Global developmental delays

Intellectual Disability Resources

Over 30 online resources on Rett syndrome

Pervasive DD-NOS

Prader Willi Syndrome Resources

Resources for teaching students with Down syndrome

Ring Chromosome 22 Resources

Teaching self-regulation and autism spectrum disorder

Things to know about Angelman Syndrome

Turner Syndrome Characteristics

What is Prader Willi Syndrome?

William-Beuren Syndrome Resources

Intellectual Disabilities And Epilepsy

According to the Epilepsy Foundation, epilepsy is the fourth most common neurological disorder and affects people of all ages. In fact, 1 in 26 people have seizures and while people who are diagnosed with epilepsy may have no other problems, this is not the case for children and adults with an intellectual and developmental disability where the rates are much higher.

It is estimated that 30% of children with epilepsy also have another type of disability. Some studies show that children with an intellectual disability and cerebral palsy, had a 35% chance of developing epilepsy, children with an intellectual disability alone had an 8% chance and children with a brain injury occurring after birth stood a 75% chance of developing epilepsy. Statistically, the risky of a child with a developmental disability experiencing an unprovoked seizure by age 5 is 4 times likely than the general population. It is estimated 1.8% of U.S. adults have epilepsy compared to 22% among people with intellectual disabilities.

People with intellectual disabilities tend to also have worse prognosis with adults having a higher rate of death including Sudden Unexplained Death In Epilepsy (SUDEP).

Epilepsy

Epilepsy is a chronic disorder with recurrent unprovoked seizures. According tot he National Institute of Neurological Disorders and Stroke (NINDS), epilepsys are a spectrum of brain disorders ranging from severe, life-threatening to ones that are more benign. The International League Against Epilepsy created a new definition of epilepsy. A person is considered to have epilepsy if they meet any of the following conditions:

  1. At least two provoked (or reflex) seizures occurring greater than 24 hours apart.
  2. One Unprovoked (or reflex) seizure and a probability of further seizures similar to the general recurrence risk (at least 60%) after two unprovoked seizures, occurring over the next 10 years.
  3. Diagnosis of an epilepsy syndrome

A seizure is defined as an event and epilepsy is the disease involving recurrent unprovoked seizures.

Intellectual Disability

According to DSM-5, an intellectual disability is a disorder with onset during the developmental period that includes both intellectual and adaptive functioning deficits in conceptual social, and practical domains including deficits in intellectual functions such as reasoning, problem-solving, planning, abstract thinking, judgment, academic learning and learning from experiences.  The severity levels range from mild to profound.

Although there is a high relationship between epilepsy and an intellectual disability, little research has been conducted on safe prescribing practices of an antiepileptic drugs for people with intellectual disabilities. What is known about epilepsy and an intellectual disability is that more severe disabilities are typically caused by damage to the brain

Why is it important to discuss?

Given the large number of people with an intellectual disability and epilepsy, treatment may be more complicated due to multiple impairments including people with a diagnosis of autism, intellectual disability and epilepsy. More research needs to occur which will help to reduce morbidity rates and help to develop accurate guidelines.

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

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

June 17- CDKL5 Awareness Day 

June 23- Dravet Syndrome Awareness Day (Canada)

Tourette Syndrome Awareness Month

July

July 15- Disability Pride Parade (NY)

July 15- 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

September 7- World Duchenne Awareness Day

September 9- Fetal Alcohol Awareness Day

October

ADHD 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 14-20 Invisible Disabilities Week

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

4 Tips On Winter Safety For Individuals With Disabilities

Individuals with developmental disabilities have a greater chance of being impacted by the cold weather. for example people with disabilities are at a higher risk for hypothermia. Hypothermia is defines as a condition in which the body core temperature drops below the required temperature for bodily functions. Here are 5 tips on winter safety:

  1. Register with the Special Needs Registry for Disaster. This allows residents with disabilities and their families and caregivers an opportunity to provide information to emergency response agencies so emergency responders can better serve people during a disaster. The information is shared with local, state and federal agencies.
  2. For people using a wheelchair, make sure to wrap a small blanket around your legs by tucking it underneath the chair. This will help to maintain body heat.
  3. Wear multiple layers of clothing including a scarf around your neck, a winter hat and two pairs of socks.
  4. In the event of a winter storm, make sure your home is stocked with flashlights/batteries, non-electric can opener, bottled water, extra blankets and a first aid kit.

What is Lowe Syndrome?

Lowe Syndrome also known as Oculocerebrorenal Syndrome is a rare genetic disorder that affects the eyes, brain and kidneys. It has a prevalence of 1 in 500,000 and mainly affects males.

Signs and Symptoms
  • Congenital cataracts
  • eye abnormalities and eye disease
  • glaucoma
  • kidney abnormalities (Renal Fanconi Syndrome)
  • dehydration
  • abnormal acidic blood
  • progressive kidney problems
  • feeding problems
  • bone abnormalities
  • scoliosis
  • weak or low muscle tone (hypotonia)
  • joint problems
  • developmental delays including motor skills
  • short stature
  • intellectual disability
  • seizure
  • behavioral issues

Children and adults diagnosed with children and adults may also show the following signs and symptoms due to an intellectual disability:

  • decrease learning ability
  • delays in crawling
  • delays in sitting up
  • difficulty solving problems
  • lack of curiosity
  • language and speech delays
  • poor memory
  • behavior problems
Teaching Strategies

The following strategies will help when teaching a child or an adult diagnosed with Lowe Syndrome:

  • Use short and simple sentences to ensure understanding
  • Repeat directions
  • Teach specific skills when possible
  • Use strategies such as chunking, backwards shaping, forward shaping and role modeling.
  • Use concrete information
  • Provide immediate feedback

Image thanks to Robert Thomson on Flickr.com (creative commons)

Resources

National Organization for Rare Disorders

Genetics Home Reference

Dove Med

Wikipedia

Teaching Strategies For Students With A Nonverbal Learning Disorder

Nonverbal Learning Disorder is a disorder you may or nay not heard of. It shares similar characteristics to autism such as the challenge in reading body language but is also quite different. By learning the signs and symptoms of nonverbal learning disorder, the better chance you have in using effective teaching strategies.

Nonverbal learning disorder is defines as a person who has difficulty in interpreting and understanding non verbal cues in the environment If 93% of how we communicate is nonverbal, a person with nonverbal learning disorder is only getting 7% of daily communication.

Dr. Byron P. Rouke of the University of Windsor developed the following criteria to assess nonverbal learning disorder:

  1. Perceptual deficits usually on the left side of the body. The child has difficulty understanding or perceiving information through the skin of both hands but the left hand has more difficulty than the right.
  2. Tends to be clumsy
  3. Difficulty with visual-spatial organizational skills. Finds it difficult to organize notes.
  4. Difficulty when encountering new information.
  5. Difficulty in knowing what is expected of you and hard to see the bigger picture
  6. Distort sense of time. Time is abstract and non-linear
  7. Well-developed, rote and verbal capacity
  8. Repetitive way of speaking
Signs and Symptoms
  • Excellent vocabulary and verbal expression
  • Excellent memory skills
  • unable to see the bigger picture
  • Poor motor and coordination skills
  • Difficulty with reading
  • Difficulty with math reading problems
  • Fear of new situations
  • May have symptoms of anxiety, depression
  • Misreads body language
  • Well-developed vocabulary
  • Better auditory processing skills than visual processing skills
  • Focus on details

Teaching Strategies For Parents and Teachers
  • Give assignments in chunks
  • Give constructive feedback
  • Create a daily class routine and stick to them
  • Write the class schedule on the board
  • Provide several verbal cues before transition
  • Give the student time to preview and prepare for new activities such as group projects
  • Minimize transitions
  • Offer added verbal explanations when the student or child seems confused
  • Teach in sequential steps
References

Rondalyn Varney Whitney/OTR, Nonverbal learning disorder: Understanding and coping with NLD and Aspergers: What parents and teachers need to know (2008)

Woliver, Robbie (2008) Alphabet Kids: From ADD to Zellwer Syndrome.

Learning Disabilities of America

Understood

Down Syndrome Timeline

According to the CDC, Down Syndrome is the most common chromosomal disorder. Each year 6,000 babies are born with Down syndrome which is estimated to be about 1 in every 700 babies. Here is a timeline showing Down syndrome progression over the years:

Down Syndrome Timeline

1866- British Physician John Langdon Down, first described the genetic disorder as “Mongoloid” based on patients similar characteristics.

1876- An initial association between premature “senility” and Down syndrome is discovered.

1929- Life expectancy is approximately 9 years of age

1932- Abnormal distribution of chromosomes was first suggested as the cause of Down syndrome.

1946- Life expectancy is approximately 12 years of age.

1948- Evidence between Alzheimer’s and Down syndrome is first published.

1959- Dr. Jerome Lejeune discovered Down syndrome is the result of an abnormality in the chromosomes.

1959- The term Trisomy 21 is used on the medical community to describe Down syndrome.

1960- Researchers discover a type of trisomy called translocation

1961- Researchers discover a type pf trisomy called Mosaicism. 

1965- The World Health Organization (WHO) accepts the name Down syndrome as the standard name to use.

1970- Life expectancy is approximately 25 years of age.

1976- Amniocentesis comes into common use in the United States

1987- A gene associated with Alzheimer disease is discovered on Chromosome 21

1994- CDC announces he prevalence of Down syndrome from 1893-1990 was 1 in 1087.

1997- Life expectancy is approximately 49 years of age.

2006- Life expectancy is approximately 60 years of age

Reference

Centers for Disease Control and Prevention

Global Down Syndrome Foundation

Strategies In Training Autistic Employees

Researchers estimate around 50,000 young people with autism turns 18 every year. Is your organization read to train these new employees?

What is Autistic Spectrum Disorder?

Autism Spectrum Disorder is a neurological disorder that includes a wide range (spectrum) of skills, symptoms and levels of support. Although no two people are alike, characteristics may include ongoing challenges with social skills that include difficulty and interacting with others. For those on the higher end of the spectrum, characteristics may include:

  • ·         A normal to high intelligence and good verbal skills
  • ·         Trouble understanding what someone else is thinking or feeling
  • ·         Difficulty understanding non-verbal cues
  • ·         May suffer from anxiety or depression
  • ·         Strong long-term memory
  • ·         May have executive functioning difficulties 
  • ·         Being highly creative
  • ·         A high sense of justice and fairness

It is important to note that autistic employees vary in the workplace. Younger employees may have received a diagnose very early their childhood while those in their 30’s to 50’s were more than likely diagnosed as adults. Many in fact may not realize they are autistic due to lack of information during their formative years. This rings true especially for women who did not fit the typical stereotype of autism.

Challenges Training Autistic Employees

The use of idioms, sarcasm, irony, metaphors and figure of speech may be difficult since most are literal thinkers.

Due to sensory sensitivities, harsh lighting and certain smells may be intolerable.

May feel anxiety working with groups during an activity, which includes role-playing and case studies.

Discomfort with noise

Coping with the unpredictable

Strategies In Training Autistic Employees
  • ·         Structured breaks- give notice in advance
  • ·         Give visual instructions. Verbal instructions are difficult to remember
  • ·         Do not assume that the employee is not listening or paying attention
  • ·         When explaining, use explicit and concrete language
Accommodations

A diagnosis of autism also qualifies under the American Disability Act (ADA).  While some may not want to disclose their diagnosis, It’s always a good idea to make sure each person is comfortable in the training. The following are some suggestions:

  • ·         Provide advance notice of topics to be discussed if possible
  • ·         Allow employees to use items to hold such as hand-help squeeze balls 
  • ·         Allow use of a noise-cancellation headset
Tips to Remember

Some autistic employees have a history of being bullied, which for many have carried over into the workplace.  Set rules in the beginning of the training that all participants should be respected.

 

 

 

 

 

 

2018 Disability Awareness Month and Observances

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 2017 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 24- Moebius Syndrome Awareness Day

February

February 15- International Angelman Day

February 28- Rare Disease Day

March

Cerebral Palsy Awareness Month

Developmental Disabilities Awareness Month

Multiple Sclerosis Month

Social Work Awareness Month

Trisomy Awareness Month

March 1- Self-Injury Day

March 1- International Wheelchair Day

March 20- Brain Injury Awareness 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

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

June 17- CDKL5 Awareness Day 

June 23- Dravet Syndrome Awareness Day (Canada)

Tourette Syndrome Awareness Month

July

July 15- Disability Pride Parade (NY)

July 15- Disability Awareness Day (UK)

July 22- National Fragile X Awareness Day

September

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

September 7- World Duchenne Awareness Day

September 9- Fetal Alcohol Awareness Day

October

ADHD Awareness Month

Down Syndrome Awareness Month

National Disability Employment Awareness Month

National Dyslexia Awareness Month

Occupational Therapy Awareness Month

October 6- World Cerebral Palsy Day

October 14-20 Invisible Disabilities Week

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