International Angelman Day

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Date: February 15, 2024

International Angelman Day is celebrated and recognized every February 15th. The purpose is to help spread awareness and education others on the rare genetic disorder.

What is Angelman Syndrome?

Angelman syndrome is a rare genetic disorder that id also considered a developmental disability. People with Angelman syndrome will also have an intellectual disability and limited speech. Angelman syndrome generally go unnoticed until the age of 1 year. Children typically have a happy demeanor and have a fascination with water.

Symptoms
  • developmental delay
  • intellectual disability
  • epilepsy
  • microcephaly
  • short attention span
  • happy demeanor
  • hyperactivity
  • hand-flapping
Associated Behaviors
  • tongue thrusting.
  • feeding problems during infancy
  • sensitivity to heat
  • frequent drooling
  • attraction to water
Prevalence

Angelman Syndrome is a rare disorder and affects 1 in 12,000 to 20,000 a year. Equally to less than 200,000 case a year. Affects all ethnicities and sexes equally.

Update 12/29/23

Congenital Heart Defect Week

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Date: February 7- February 14, 2024

Congenital Heart Defect Awareness Week is observed each year during February 7-14 to promote awareness and education about congenital heart defects. The disorder affects approximately one in 100 births every year in the United States and are the most common type of birth defect. It is estimated that 1 million children and 1.4 million adults in the United States were living with a congenital heart defect.

According to the Centers for Disease Control and Prevention (CDC. 1 in 157 children and 1 in 680 adolescents and adults had a heart defect. Heart defects are lifelong conditions that require ongoing specialty medical care.

CDC also reports that heart defects are  up to 8 times more likely to have a disability than adults without heart defects. Findings show that:

  • About 4 in every 10 adults with heart defects have a disability, with cognitive disabilities.
  • People with heart defect and at least one disability are more than likely to describe themselves as having poor mental or physical health.
  • Congenital heart defects affect nearly 1% or about 40,000- births per year in the United States.
  • CHD’s are the leading cause of birth defect-associated infant illness and death.
  • About 20% to30% of people with a CHD have other physical problems or developmental or cognitive disorders.
  • Children with CHD are about 50% more likely to receive special education services compared to children without birth defects.
  • The occurrence and severity of a developmental disability or delay increases with how complex the heart defects is.

The types of congenital heart defects include;

  1. 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.
  2. 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.
  3. 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 includes:

  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.
  1. 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.

 

 

 

Updated 2/3/24.

What is Turner Syndrome?

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February is Turner Syndrome Awareness Month. It is a rare disease that occurs in between one and 2,000 birth only affecting females. Turner Syndrome has several names including Ullrich-Turner Syndrome, Bonnevie-Ullrich-Turner Syndrome. gonadal dysgenesis and 45X. This rare disease is the result of the absence of one set of genes from the short arm of one X chromosome.

Special Needs Challenges

While girls and women with Turner Syndrome usually have normal intelligence, there is a risk of learning disabilities involving spatial concepts including math and memory and ADHD

Teaching Strategies:

Young girls diagnosed with Turner Syndrome during their early development may have delays in learning the alphabet, speech, difficulty in following one command at a time and conceptual difficulties such as up and down. Signs and symptoms of math or dyscalculia challenges include difficulty with counting money, estimating time, losing track when counting and remembering phone numbers or zip codes. The following strategies should be used when teaching students diagnosed with Turner Syndrome:

  • Use flashcards to aid in memory as well as workbooks, games and video’s.
  • Break learning into smaller steps by using a task analysis framework.
  • Administer probing and feedback as a check in
  • Model instructional practices
  • Provide prompts
  • Use visuals such as diagrams, graphics and pictures.
  • Give clear directions
  • Use multiple models including visual and auditory learning models
  • Make sure directions are clear
  • Allow time to process and take notes

Updated 2/3/2024

Feeding Tube Awareness Week 2024

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Date: February 4-10, 2024

Color: Blue and Purple

What is a feeding tube?

A feeding tube is a device that is inserted in the stomach wall and goes directly into the stomach. It bypasses chewing and swallowing in a student or individual who no longer has the ability to safely eat or drink. This allows for students and individuals to receive adequate nutritional support and also provides hydration and medication directly to the stomach or intestine.

A feeding tube is also used for students and adults who cannot take in enough food by mouth. Feeding tubes can be temporary or permanent.

Reasons to use a feeding tube.

The student or individual may have a swallowing disorder or dysphasia. This means there is an increased risk for the student or individual to aspirate their foods or liquids into their lungs. Causes of swallowing problems include low-muscle tone, brain injury, genetic conditions, sensory issues, neurological conditions, cleft lip/palate and birth defects of the esophagus or stomach.

Neurological and Genetic Conditions Requiring Tube Feeding

Some students and individuals with neurological and genetic conditions often require tube feeding due to gastrointestinal issues including constipation, reflux, and abnormal food-related behaviors. It For example, it is estimate that 11% of children with cerebral palsy use a feeding tube due to difficulty with eating, swallowing, and drinking.

Types of G-Tubes

Nasogastic Feeding Tube

The Gastrostomy tube (G-Tube) is placed through the skin into the stomach and is usually for short-term tube feeding.

Gastrostomy tube 

Is placed through the skin into the stomach and the intestine. Used for long-term use and is used for a person who has a risk for aspiration and has difficulty keeping food from moving from the stomach to the intestine.

Jejunostomy tube

Goes through the skin directly into the small intestine and is used for long- term feeding when there is a blockage in the stomach.

 

Side Effects

  • cramps
  • constipation
  • aspiration
  • vomiting
  • bloating

Care of the feeding tube

  • Should be cleaned daily.
  • The feeding tube should be flushed with water after the feeding. This will prevent clogging.
  • In order to prevent skin breakdown, keep the site open to air as much as possible and apply waterproof skin protection.
  • Notify your healthcare professional if there is any redness, swelling, four odor and skin breakdown around the area.
he following are different types of neurological or genetic conditions that may require the use of a feeding tube.

22q11.2 Deletion Syndrome

Angelman Syndrome

Aspiration

Cerebral Palsy

CDKL5 Disorder

Cornelia de Lange

Cri Du Chat Syndrome

Down Syndrome

Dravet Syndrome

Dysphasia

Edwards Syndrome

Fetal Alcohol Syndrome

Fragile X Syndrome

Hydrocephalus

Lennox-Gestaut Syndrome

Microcephaly

Ohtahara Syndrome

PPD- Not Otherwise Specified

Turner Syndrome

Trisomy 18

Spastic Diplegia

Traumatic Brain Injury

West Syndrome

Williams Syndrome

Turner Syndrome Awareness Month

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Date: February 1-February 29, 2024

Symbol: Butterfly

Color: Purple

What is Turner Syndrome?

It is a rare disease that occurs in between one and 2,000 birth only affecting females. Turner Syndrome has several names including Ullrich-Turner Syndrome, Bonnevie-Ullrich-Turner Syndrome. gonadal dysgenesis and 45X. This rare disease is the result of the absence of one set of genes from the short arm of one X chromosome. The syndrome was first described by American endocrinologist Henry Turner in 1938.

Characteristics of Turner syndrome include facial and physical appearance, cognitive characteristics, clinical issues and mental healthy symptoms. No two people with Turner syndrome are exactly the same therefore, not everyone will display the same characteristics:

Facial Appearance
  • down-turning eyelids
  • low-set and prominent ears
  • small jaw
  • high narrow roof of mouth
  • neck webbing
Physical Appearance
  • broad chest with widely spaced nipples
  • narrow fingernails and toenails
  • hand and feet swelling
  • short fingers
  • smaller than average height
  • skin moles
Medical Issues
  • chronic middle ear infections
  • hearing loss
  • heart, liver and kidney abnormalities
  • delayed puberty
  • undeveloped ovaries
  • greater risk for diabetes
  • high risk for celiac
  • high risk for osteoporosis
  • GERD
  • scoliosis
  • hypertension
  • high risk obesity
  • may not have menstruations
Cognitive
  • normal intelligence in some cases
  • issues with visual spatial
  • nonverbal memory
  • executive function issues
  • difficulty in understanding social cues
  • behavior issues.
Mental Health
  • low-self-esteem
  • anxiety
  • depression

Treatment

There is currently no cure for Turner syndrome. Thee following are used to treat including therapies:

  • Growth hormones
  • Estrogen replacement therapy

 

Update: 1/29/24

Moebius Syndrome Awareness Day

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Date: January 24, 2024

Moebius Awareness Day brings awareness to the syndrome and to honor the birth date of Professor Paul Julius Moebius who first diagnosed the syndrome in 1888.  Congenital facial palsy was first discovered by Albrecht Von Graefe in 1880 and is considered the father of modern Ophthalmology. Moebius Syndrome Awareness Day was first recognized in 2011 by The Many Faces of Moebius.

Professor Paul Julius Moebius was a German neurologist who made contributions in the area of mental illness and understanding hysteria. He is considered one of the fathers of psychotherapy. Professor Moebius was the first to identify the syndrome as a rare type of palsy affecting facial expressions.

What is Moebius Syndrome?

Moebius syndrome is a rare, genetic disorder which is characterized by a weakness or paralysis of facial nerves. It is present at birth and affects the muscles that control eye movement and facial expressions including the inability to smile or frown. It is extremely rare and affects 1 in 50,000 to 1 in 500,000 newborns and affects all ethnicities and genders equally.

Signs and symptoms

Moebius Syndrome affects each person differently. The diagnostic criteria include facial paralysis affecting at least one side of the face, paralysis of sideways movement of the eyes and vertical movement of the eyes. Other signs include:

  • Cleft Palate
  • Dental issues
  • Motor Delays
  • Difficulty with speech
  • Difficulty swallowing
  • Inability to form facial expressions.
  • Weakness of the facial muscles
  • Dry eyes

What causes Moebius Syndrome?

The causes are unknown. However, it is felt that the condition is more likely caused by genetics involving the genes that are associated with chromosomes 3, 10, and 13.  Environmental causes are also a factor including the use of drugs during pregnancy. In some cases, it can occur in families with no history of the disorder in the family.

Moebius Syndrome is typically diagnosed through sign and symptoms and detailed patient history.

Updated 12/29/23

International Day Of Acceptance

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Date: January 20, 2024

The International Day of Acceptance is held each year to celebrate abilities rather than disabilities. The annual celebration was created by Annie Hopkins. Although living with a disability, Annie pushed through perceived limitations and lived to focus on her abilities. She created educational YouTube videos and in 2007 along with her brother, started a company to spread the message of “abilities for all.” Annie passed away in 2009 but her message on encouraging people with disabilities to embrace who they are.

The goal of International Day of Acceptance is to encourage people to change by demonstrating acceptance and embracing people of all disabilities.

1/3/24

National Birth Defects Prevention Month

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Start: January 1-January 30, 2024

January is National Birth Defects Prevention Month and is a nationwide effort to raise awareness of birth defects and the impact on families.

Birth defects can be diagnosed during pregnancy or after the baby is born. Birth defects occur when there are structural changes during the first three months of pregnancy affecting one or more parts of the body. About 1 in 33 babies (3%) are born in the United States is born with a birth defect. Birth defects are also the leading cause of infant deaths accounting for 20% of all infant deaths.

Types of birth defects include:

  • Anencephaly
  • Spina Bifida
  • Cleft Lip/Cleft Palate
  • Down Syndrome
  • Microcephaly
  • Muscular Dystrophy
  • Edwards Syndrome
  • Patau Syndrome

Not all birth defects are preventable however, the following are steps you can take for a healthy baby:

  • Try to prevent infections.
  • Wash your hands regularly.
  • Get 400 units of folic acid every day.
  • See a healthcare professional on a regular basis.

Updated 12/29/23

An Overview of Ohtahara Syndrome

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Published by: VeryWell Health
Written by: Heidi Moawad

Ohtahara syndrome is a rare type of epilepsy that begins during infancy. It is also called early infantile epileptic encephalopathy. Children who have Ohtahara syndrome experience seizures and have severe developmental problems. This type of epilepsy is associated with a characteristic pattern that can be recognized on an electroencephalogram (EEG). Anti epilepsy drugs (AEDs) are usually needed to help manage the seizures.  This condition is not curable, and children who have Ohtahara syndrome are not usually expected to survive beyond early childhood. There are exceptions, and some people with this syndrome may continue to live into adulthood, but they tend to have persistent epilepsy and physical and cognitive deficits.

Symptoms

Children who have Ohtahara syndrome experience their earliest seizures before the age of 3 months. They may seem healthy at birth, but can start to have jerking movements within a few weeks. In some cases, mothers may recall that their baby actually started having erratic movements during the pregnancy.

Babies who have Ohtahara syndrome may experience several types of seizures. The most common seizure types in Ohtahara syndrome include:

Tonic seizures: This is the most common type of seizure that occurs in Ohtahara syndrome. It is characterized by a stiffening of the arms and legs, usually lasting a few seconds. Click here to read the rest of the story.

What to Know About Dyslexia and ADHD

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Published by: Psych Central
Written by: Gia Miller

They have some shared symptoms, but dyslexia and ADHD are separate conditions. Here’s how to to tell them apart and tips for managing these conditions.

Dyslexia and attention deficit hyperactivity disorder (ADHD) are two neurological conditions that can make learning more difficult.

The former affects 11%, and the latter affects between 5 to 20%, but it’s difficult to estimate precisely.

Sometimes, the symptoms of ADHD and dyslexia can be hard to tell apart — as both can cause trouble with reading and writing. But even though the symptoms can appear similar, the underlying reasons for the symptoms are very different.

What is dyslexia?

Dyslexia is a condition that impacts your ability to use language. You may have trouble matching letters to sounds or recognizing the sounds in words. This can make it hard to read and understand what you’re reading.

Dyslexia can also make spelling, writing, or math more difficult. Click here to read the story