9 Rare Genetic Trisomies Beyond Down Syndrome (Trisomy 21)

Published by: Very Well Health
Written by:  Kathleen Fergus

Trisomy is when three copies of a chromosome are present instead of two (all chromosomes normally come in pairs). While most parents-to-be are familiar with Down syndrome and will undergo prenatal screening to detect it, there are other, potentially more serious trisomies that may occur, including Edwards syndrome, Patau syndrome, and others. Some may cause few, if any, symptoms, while others can lead to severe defects that make life—or even the pregnancy—unsustainable.

A gene is essentially a packaged bundle of chromosomes that contain all of the coded information related to our physiological makeup and metabolic function. Each gene typically contains 46 chromosomes, 23 of which we inherit from our mothers and fathers, respectively.

Of these, 22 pairs are autosomes, which determine our unique biological and physiological features. The 23rd pair is sex chromosomes (known as X or Y), which designate whether we are biologically female or male.

In rare instances, a coding error may occur when a cell divides during fetal development. Instead of splitting cleanly into the two identical chromosomes, the newly divided chromosome will have extra genetic material. This can lead to either a full trisomy (in which a complete third chromosome is created) or a partial trisomy (in which only part of the chromosome is copied). From this point forward, the error will be repeated and repeated as the cell continues to divide.

Down syndrome, the most common genetic disorder in humans is referred to as trisomy 21 because there is an extra copy of chromosome 21 in a gene. Other genetic disorders are similarly named.

Autism and Meltdown Resources

       Children with sensory issues including sensory integration disorder, Autism and ADHD may experience a meltdown due to feeling overwhelmed when there is too much sensory information to process.

The folllowing are useful resources to aid in calming:

Blankets- Helps in calming and improving attention and also decreases sensory behaviors by providing deep pressure touch

DIY-  How to make a weighted blanket

Etsy Shop

Mosaic Weighted blankets

Salt of the Earth Gear

Sensa Calm

Sensory Goods

The Magic Blanket

Swings– Will calm a child with autism by organizing and regulating the sensory system.

eSpecial Needs

Fun and Function

Sensory Edge

Sensory Goods

Southpaw

Vest- The weighted vest helps children stay calm and focused by stimulating their muscles through deep pressure.

Autistic Weighted Vest

Fun and Function

Pressure-Vest.com

Therapy Shoppe

Articles

3 ways to deal with autistic children’s meltdowns

5 things about autism meltdowns

10 tips to calm down an autistic child in meltdown

Autism meltdown-management 101: Key points for parents and teachers

Autistic meltdown or temper tantrum?

Fears, anxieties, sensory issues and meltdowns

How to handle the 4 most challenging autism behaviors

Mood instability and meltdowns

The cycle of tantrums, rage and meltdowns

The difference between tantrums and meltdowns (Understood)

What a meltdown feels like for someone with autism (The Mighty)

Why the meltdowns? (Autism Mind)

 

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

Signs and Symptoms of Dysgraphia

Early Signs of Dysgraphia

Signs and symptoms of dysgraphia generally begin to show up when children began to lean how to write. Early signs of Dysgraphia include:

  • Inconsistent spacing between letters
  • Poor spatial planning
  • Poor spelling
  • Unable to read own handwriting
  • Poor fine motor skills
  • Omitted words
  • Writes slow
  • Pain in hand from writing
  • Messy unorganized papers
  • Difficulty organizing thoughts on paper
  • Illegible printing and cursive letter formation
  • Slopping handwriting
  • Tight, cramped pencil grip
  • Tires quickly when writing
  • mixes upper and lower case or irregular sizes and shapes of letters.

Download a free dysgraphia checklist

An Overview of Absence Seizures

Published by: Very Well Health
Written by: Reza Shouri, MD

An absence seizure, often referred to as petit mal seizure, is a non-convulsive seizure that is often not recognized as a seizure at all. Absence seizures usually occur in children who have epilepsy, but adults can have them as well. While absence seizures are not as disruptive or obvious as convulsive seizures, they cause impairment of consciousness and interfere with learning, driving, and other aspects of life.1

Absence seizures are typically a childhood condition. For children who do not have other types of seizures, absence seizures tend to stop on their own after adolescence. Often, children who have epilepsy characterized by multiple seizure types also experience a significant decrease in the absence seizure type after adolescence.1

Symptoms

Absence seizures can go unnoticed. They can occur several times a day and rarely cause disruption, noise, or clearly obvious manifestations. Sometimes, a person may experience them for months before others begin to take notice. Click here to read the rest of the story.

 

Accommodations for Students with Dysgraphia

Dysgraphia is describes as a learning disability that affects writing, spelling and fine motor skills. Dysgraphia is a neurodevelopmental disorder that can occur as a stand alone disorder or part of a co-occurring disorder with other disabilities such as ADHD, Autism, and Dyslexia. Typically it is diagnosed or discovered in the early years when children are beginning to learn how to write. Most adults often remain undiagnosed.

Early Signs of Dysgraphia

Signs and symptoms of dysgraphia generally begin to show up when children began to lean how to write. Early signs of Dysgraphia include:

  • Inconsistent spacing between letters
  • Poor spatial planning
  • Poor spelling
  • Unable to read own handwriting
  • Poor fine motor skills
  • Omitted words
  • Writes slow
  • Pain in hand from writing
  • Messy unorganized papers
  • Difficulty organizing thoughts on paper
  • Illegible printing and cursive letter formation
  • Slopping handwriting
  • Tight, cramped pencil grip
  • Tires quickly when writing
  • mixes upper and lower case or irregular sizes and shapes of letters.

The following articles provide resources on accommodations:

6 tips for creating a dysgraphia-friendly classroom

A guide to classroom and at-home accommodations for dysgraphia

Classroom accommodations for students with dysgraphia

Dysgraphia Accommodations

Dysgraphia accommodations and modifications

Dysgraphia accommodations in the classroom

Dysgraphia accommodations that improve learning

Dysgraphia symptoms, accommodations, and IEP goals

How to assist a student with dysgraphia in the classroom

Possible accommodations to consider for children with dysgraphia

Behavior Management Strategies for Teachers

 

5 behavior management resources for teachers

5 tips for teachers struggling with behavior management

7 classroom management techniques that work in person or online

8 proactive classroom management tips

10 behavior management ideas as a guide for your classroom

11 research-based classroom management strategies

25 sure fire strategies for handling difficult students

Behavior management strategies

Positive behavior strategies: What you need to know

Use these behavior management strategies in the classroom

Cerebral Palsy and Secondary Issues

Cerebral palsy affects people differently including; learning disabilities, intellectual disabilities, behavioral challenges, Attention Deficit Hyperactivity Disorder (ADHD), and Executive Function Disorder. People with cerebral palsy often have medical issues as well including, epilepsy, hydrocephalus, swallowing difficulties, vision problems, aspiration and constipation.

Seizures
  • a seizure is a sudden, out of control event that can cause involuntary movement.
  • It occurs when there are bursts of abnormal electrical activity in the brain which interferes with normal brain functioning.
  • The brain constantly sends unusual electrical messages very close together.
  • Inform the participants that seizures are the most common of associated problems.
  • Experts believe that seizures are the result of scarred tissue in the brain.
  • About 50% of people with cerebral palsy suffer from seizures.
  • Epilepsy is more common in the child with spastic quadriplegic
  • Complex partial seizures are the most common in people with cerebral palsy
  • in most cases, it is unknown the cause of seizures.

Cases which the cause is known include

  • Serious brain injury
  • Lack of oxygen
  • Bleeding in the brain
  • Infection in the brain including meningitis and encephalitis
  • Inflammation of the brain
  • Co-occurring conditions that involve an intellectual or developmental disabilities

Treating Seizures

  • Try to keep calm and make sure the person having the seizure is comfortable and safe from harm.
  • A seizure can last from a second or several minutes

Do Not:

  • Do not hold the person down or try to stop his or her movements.
  • Do not put anything in the person’s mouth. This can injure teeth or the jaw. A person having a seizure cannot swallow his or her tongue.
  • Do not try to give mouth-to-mouth breaths (CPR). People usually start breathing again on their own after a seizure.
  • Do not offer the person water or food until he or she is fully alert.

After the seizure:

  • After the seizure ends, the person will probably be groggy and tired. He or she also may have a headache and be confused or embarrassed. Try to help the person find a place to rest.
Vision Issues
  • The term blindness refers to complete impairment of vision
  • Visual impairment refers to diminished vison or low vision but not total blindness.
  • A person’s right side may include problems with muscles that control the right eye making it difficult for the affected eye to move from side to side.
  • People may appear to be crossed eyes.
  • Explain that people with cerebral palsy may have a condition called strabismus, where eyes do not line up and focus properly because of differences between the left and right eye muscles
  • May only impact one eye which happens to those whose cerebral palsy affect one side of the body.
Learning Disability
  • People with cerebral palsy may have a short attention span, motor difficulties, perceptual difficulties and language difficulties
  • This can impact literacy, numeracy and other important skills.
  • Learning disabilities may also affect fine and gross motor coordination
  • They may tire easily since they have to put more effort into concentrating on their movements and sequence of actions.
ADHD
  • A disorder of the executive function of the brain that allows a person to focus and organize
  • It is a developmental disability that occurs in approximately 3 to 5% of children
  • 19% of children with cerebral palsy will be diagnosed with ADHD
Hydrocephalus 
  • Enlargement of the fluid filled spaces in and around the brain known as ventricles
  • To correct the damaging effects, the fluid build-up is performed involving a shunt
Behavior Challenges
  • Children and adults with cerebral palsy may be more prone to having problems controlling their impulses as well as having difficulty with focus and attention
Hearing Loss
  • Birth injuries can cause partial or complete loss of vision and or hearing in many individuals
  • Possible result of physical damage to the ear due to inflammation of built-up
  • Senorineural hearing loss- nerves that transmit sound information from the outside world to the brain are damaged
Tube Feeding
  • Gastrostomy is used with children with significant eating, drinking and swallowing difficulties to ensure they received enough food and drink.
  • It is surgically placed through the abdominal wall to feed formula, liquids and medication directly to the stomach.
Intellectual Disability
  • Approximately 2/3 of people with cerebral palsy have an intellectual disability
  • 1/3 have Mild
  • 1/3- Moderate
  • 1/3- Normal IQ
  • Children with spastic quadriplegia are more likely to have an intellectual disability

Iowa autism advocate’s brush with police leads to proposed driver’s license designation

Published by: Omaha World-Herald
Written by:

Tyler Leech was leaving a church group’s bowling outing in West Des Moines one evening when he was pulled over by a police officer. A hard-rock party was going on nearby at the Val-Air Ballroom and there were a lot of police in the area.

Leech has autism. “The cop asked me, did I know that my tail light was out, and I looked at him all confused,” he said.

Before he knew it, the Des Moines man was out of the car, handcuffed and being subjected to a pat-down. The officer searched his pockets and asked if he’d been smoking marijuana.

“I told him no, ‘I’ve never smoked anything in my life,’” Leech said. He doesn’t even drink alcohol.

When no drugs turned up on Leech or in a search of the car, he was released. But the experience was traumatic, said his mother, Sheri Leech.

“He was embarrassed and ashamed and he didn’t even tell his dad it happened,” she said. “He felt very violated being handcuffed.”

She said the incident could have had a far worse outcome if her son had become frightened and tried to run, resisted being detained or tried to pull his phone out of his pocket. “My son could have been shot,” she said.

Tyler Leech, 27, decided to do something about that. Click here to read the rest of the story.

37 Helpful Epilepsy Resources

epilepsy ribbon

November is Epilepsy Awareness Month!

Epilepsy Facts

  • It is the 3rd most common neurological disorder in the United States
  • 2.7 million Americans have epilepsy
  • 468,000 are children 0-17
  • 50 million people have epilepsy worldwide
  • 1 in 26 people have epilepsy in their lifetime
  • 200,000 people in the United States will be diagnosed with epilepsy this year

The following links include information on symptoms, causes, complications, definition, types of seizures, and treatment:

Medical

Boston Children’s Hospital- Epilepsy Center
Cleveland Clinic-Epilepsy Center
e-medicine health
Everyday Health
FamilyDoctor.org
Healthline
Kids Health
Live Science
Mayo Clinic
Medline Plus
Neuroscience for Kids
WebMD
World Heath Organization (WHO)

Organizations and Foundations

 American Epilepsy Society

Promotes research and education for professionals dedicated to the prevention, treatment and cure of epilepsy.

 Citizens United for Research in Epilepsy (CURE)

Cure’s mission is to cure epilepsy, transforming and saving millions of lives. Also identifies and funds research.

 Dravet Syndrome Foundation

Raises funds for research and increase awareness and provides support to individuals and families.

 Epilepsy Canada

Mission is to enhance the quality of life for persons affected by epilepsy through promotion and support of research and facilitation of education and awareness.

Image result for epilepsy foundation Epilepsy Foundation

National Voluntary agency dedicated solely to the welfare of more than 2 million people with epilepsy in the United States and their families.

A charity funding research into epilepsy, provides information about the condition and therapies, and their activities.
 Hope for Hypothalamic Hamartomas

A volunteer-based organization. The goal is to create information about the diagnosis, treatment, and support of individuals with HH.

 Intractable Childhood Epilepsy Alliance

Dedicated to improving lives of children affected by intractable epilepsy through evidence-based information and advocacy.

 Lennox-Gastaut Syndrome Foundation

Non-profit organization dedicated to improving the lives of individuals with Lennox-Gastaut Syndrome through research, programs and education.

  National Association of Epilepsy Centers

Strives to make high quality care available and affordable for epilepsy patients

Twitter -Keep up with the latest twitter feed or follow organizations that provide current information on epilepsy:

EPIC Long Island– Our very own non-profit organization of the month. Provides services for individuals with epilepsy and other disorders
Epilepsy Action– Leading member-led epilepsy charity providing information for people with epilepsy
Epilepsy Awareness– provides epilepsy training services to help raise standards and promote best practices.
My Epilepsy Team– Social network for people living with Epilepsy
Young Epilepsy– National charity working exclusively with children and young people in the UK

YouTube Video’s

Books on Epilepsy

Epilepsy: A patient and family guide

Epilepsy in Children: What every parent needs to know

Epilepsy 101: The ultimate guide for patients and families

Living well with epilepsy and other seizure disorders

Mommy, I feel funny! A child’s experience with epilepsy