Ring Chromosome 22

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According to the March of Dimes, about 1 in 150 babies are born with a chromosomal condition. Changes of the chromosome can occur through duplication, deletion or inversion (when the chromosome breaks off and reattaches in the opposite direction).

What is Ring Chromosome 22?

Ring Chromosome 22 is a rare disorder which occurs when a component of the short arm and a part of the long arm are missing which join together causing to form a ring.

Prevalence

Ring Chromosome 22 is extremely rare. There are only 100 known cases that were reported in journals. It is also possible the number of cases is undiagnosed since some infants and children display mild signs and symptoms. It affects both males and females and all ethnicities and nationalities equally.

Signs and Symptoms

Signs and symptoms vary based on the amount of genetic material lost and the location of the break in the chromosome. Signs and symptoms typically include, developmental delays, intellectual disabilities in the severe to moderate range, speech delay, hypotonia, unsteady gait, seizures and hyperactivity. Physical characteristics in some cases include webbed toes and a bulbous nose.

What causes Ring Chromosome 22?

Ring Chromosome 22 occurs when a component of the short arm and a part of the long arm break and the ends fuse together creating a fuse at the breakage area. This causes fragments of lost material. The amount of lost material varies from person to person creating unique signs and symptoms for each person.

Ring Chromosome 22 and Autism

It is estimated that 30-79% of people diagnosed with Ring Chromosome 22 also displayed autistic features. In cases where Autism and Ring Chromosome 22 coexisted, it was found that autism symptoms such as mood disorders, hyperactivity, and aggression were evidenced.

Treatment

There is currently no cure for Ring Chromosome 22 however symptoms can be managed through a medical multidisciplinary team of physicians, ophthalmologists, neurologist, cardiologist and other healthcare professionals such as speech therapist, occupational and physical therapist.

Updated on 7/1/2024

What is Executive Function Disorder?

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What is Executive Functioning?

According to CHADD org, Executive function skills refers to brain functions that activate, organize, integrate and manage other functions which enables individuals to account for short- and long term consequences of their actions and to plan for those results.

According to Rebecca Branstetter, author of The Everything Parent’s Guide to Children with Executive Functioning Disorder, These skills are controlled by the area of the brain called the frontal lobe and include the following:

  • Task Initiation- stopping what you are doing and starting a new task
  • Response Inhibition- keeping yourself from acting impulsively in order to achieve a goal
  • Focus- directing your attention, keeping you focus, and managing distractions while you are working on a task
  • Time Management- understanding and feeling the passage of time, planning  good use of your time, and avoiding procrastination behavior.
  • Working Memory- holding information in your mind long enough to do something with it (remember it, process it, act on it)
  • Flexibility- being able to shift your ideas in changing conditions
  • Self-Regulations- be able to reflect on your actions and behaviors and make needed changes to reach a goal
  • Emotional Self-Control- managing your emotions and reflecting on your feelings in order to keep yourself from engaging in impulsive behaviors.
  • Task Completion- sustaining your levels of attention and energy to see a task to the end.
  • Organization- keeping track and taking care of your belongings (personal, school work) and maintaining order in your personal space.
What Causes Executive Functioning Disorder?
  • a diagnosis of attention deficit hyperactivity disorder (ADHD)
  • a diagnosis of obsessive-compulsive disorder (OCD)
  • a diagnosis of autism spectrum disorder
  • depression
  • anxiety
  • Tourette syndrome
  • Traumatic
Signs and Symptoms
  • Short-term memory such ask being asked to complete a task and forgetting almost immediately.
  • Impulsive
  • Difficulty processing new information
  • Difficulty solving problems
  • Difficulty in listening or paying attention
  • issues in starting, organizing, planning or completing task
  • Difficulty in multi-tasking

Issues with executive functioning often leads to a low self-esteem, moodiness, insecurities, avoiding difficult task. and low motivation

Managing Executive Functions Issues
  • Create visual aids
  • use apps for time management and productivity
  • Request written instructions
  • Create schedule and review at least twice a day
  • Create checklist

Updated 6/30/24

What is Inattentive ADHD?

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When most people think of ADHD, hyperactivity is often what people think of. There are actually 3 subtypes of ADHD including hyperactivity, inattentiveness and a combination of both hyperactivity and inattentiveness.

What is Inattentive ADHD?

ADHD is considered one of the most common neurodevelopmental disorders which affects both children and adults. 70% of people with ADHD in childhood will continue to have it in adolescence and approximately 50% will continue into adulthood.

ADHD is described as a lack of focus and attention including not paying attention to detail and making careless mistakes, disorganizations, poor listening skills, distractibility, and constantly losing items.

There has been little research done on the inattentive type, however this is slowly changing. there are many reasons why the inattentive type is overlooked and why it is important to discuss it.  Studies show that females are more likely to have the inattentive type of ADHD. This type of ADHD is often ignored or overlooked due to its comorbidities. Females are more likely to have learning disorders such as dyscalculia (math learning difficulties) and dysgraphia (writing disorders), as well as anxiety, depression and speech and language issues.

Other challenges faced by children and adults with inattentive ADHD includes issues in executive functioning including difficulty in sequencing, staying on a task, prioritizing, and productivity.

Signs and Symptoms

According to DSM-V, a person must meet six of the nine symptoms listed below:

  1. fails to pay close attention to details or makes careless mistakes
  2. has difficulty sustaining attention in work or play
  3. does not listen when spoken to directly.
  4. fails to finish schoolwork, chores or work duties
  5. has difficulties organizing activities
  6. avoids task requiring sustained mental effort
  7. loses things
  8. is easily distracted
  9. is forgetful.

Causes

Research suggests the following play a role in the diagnosis of inattentive ADHD:

  1. Genetics
  2. environmental
  3. low birthrate
  4. stress during pregnancy

Treatment

There is no known treatment for inattentive ADHD. The following medications are used for treatment:

  • methylphenidate- used to create activity in the brain
  • lisdexamfetamin- improves concentration, helps focus attention
  • guanfacine- works to improve attention

Strategies in working with students with Inattentive ADHD:

  1. Allow enough time to complete work. students with Inattentive type take a longer in completing assignments and processing information
  2. Be specific and provide structure. Explain your expectations and ensure instructions are clear.
  3. Decrease distractions as much as you can
  4. Monitor for both depression and anxiety
  5. Help to build self-esteem
  6. Provide accommodations in areas of learning.

For adults in the workplace

  1. Vary instruction when training new staff
  2. allow frequent breaks
  3. decrease distractions
  4. use visual strategies for feedback and expectation.
Updated on 6/28/24

What is a Disability?

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According to the Americans with Disabilities Act, a disability is defined as if she/he has a physical or mental impairment that substantially limits one or more major life activities, a record of such impairment, or is regarded as having an impairment.

According to the Centers for Disease Control (CDC), 61 million adults in the United States live with a disability.

  • The percentage of people living with disabilities is highest in the south.
  • 13.7% have serious difficulties walking or climbing stairs
  • 10.8% have serious difficulty concentrating, remembering, or making decisions
  • 6.8% difficulty doing errands alone
  • 5.9% are deaf or have difficulty hearing
  • 4.6% are blind or having difficulty seeing
  • 3.7% have difficulty dressing or bathing independently
  •  2 in 5 are adults age 65 years or older
  • 1 in 4 women have a disability
  • adults living with disabilities are more likely to have obesity, smoke, have heart disease and diabetes.

The U.N. Convention on the Rights of Persons with Disabilities adopts the social model of disability that recognizes:

  • That disability is an evolving concept and that disability results from the interaction between persons with impairments and attitudinal and environmental barriers that hinders their full and effective participation in society on an equal basis with others and;
  • Persons with disabilities include those who have long-term physical, mental, intellectual or sensory impairments which in interaction with various barriers may hinder their full and effective participation in society on an equal basis with others.

According to the World Report on Disability, about 15% of the world/s population lives with some form of disabilities,. of whom 2-4% experiences significant difficulties in functioning. A disability can be visible or invisible.

Causes

A disability can be occur before, during or after birth. Before birth could be a genetic problem, chromosomal , infection or exposure to chemicals. During birth can be due to lack of oxygen and after ranges from seizures, car accidents, drownings, strokes, etc.

Types of Disabilities

Chromones/Genetic

Chromosomal disorders is the result of abnormalities with one of the 23 pairs of chromosomes. This can include an extra chromosome such as Down syndrome or a deletion in the chromosome.

Neurodevelopmental

Neurodevelopmental disorders are a group of disorders that affect the brain and the nervous system affecting learning, thinking and language. This includes autism, ADHD, learning disabilities and communication disorders.

Physical Impairments

Physical impairments include sensory impairments, musculoskeletal impairment, and neuromuscular impairments. This includes vision impairment, low back pain, mobility, hearing loss and arthritis.

Psychiatric

A mental disorder that limits a person’s ability to perform life activities including working, learning, and communication including anxiety, depression and bipolar disorders.

Chronic Disabilities

A life-long term health issue that can be physical or mental that last 1 year or more and requires ongoing medical assistance including heart disease, diabetes, and arthritis.

Sensory Disabilities

Affects how people process information from the senses including hearing impairment, autism spectrum disorder, and sensory processing disorder.

Cognitive Disabilities

Impairments that affect the way a person thinks, learns, remembers and makes decisions including intellectual disability, ADHD, learning disability, autism.

Invisible Disability

According to the Invisible Disabilities Association, the term invisible disability refers to symptoms such as debilitating pain, fatigue, dizziness, cognitive dysfunction, brain injuries, learning differences, mental health disorders, as well as hearing and visual impairments. They are not always obvious to the onlooker, but can sometimes or always limit daily activities range from mild challenges to severe limitations and vary from person to person

Updated 6/28/24

Teaching Children and Adults with Rare Diseases

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February 29th is the official day of bringing awareness to rare diseases. According to the National Institutes of Health, in the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. Definition of rare disease vary from country to county. In Europe affect 1in 2,000 people and in Canada, more than 3.5 million or 10percent of the population are diagnosed with a rare disease.

Facts You Should Know About Rare Diseases

  • There are over 300 million people living with one or more of over 6,000 identified rare diseases around the world
  • Each rare disease may only affect a handful of people but taken together directly affected is equivalent to the population of the world’s third largest country.
  • rare diseases currently affect 3.5%-5.9% of the worldwide population.
  • 72% of rare diseases are genetic while others are the result of infections.(bacterial or viral).
  • 70% of those genetic diseases start in childhood
  • About 30 million people or 1 in 10 people in the United States are affected by a rare disease
  • 95% of rare diseases do not have FDA-approval treatment.

Most children diagnosed with rare diseases are more than likely to also exhibit some form of learning disabilities including intellectual disabilities, developmental delays, speech and motor issues. Also, you may find in addition to an intellectual disabilities, students may also have medical issues including epilepsy and ongoing medical concerns.

While it is impossible to know and remember all of the signs and symptoms of rare diseases, the key is to teaching students based on their level of development. The following are useful teaching strategies when teaching students diagnosed with a rare disease:

  1. Teaching should include using multisensory teaching strategies by engaging students on multiple levels by encouraging students to use their senses. This is done by utilizing learning that includes visual (text, pictures, flash cards), auditory (music, songs),tactile (textured items, clay), kinesthetic (games, movement activities), taste ( cooking activities).
  2. Use concrete items and give examples
  3. Use hands on material as much as possible
  4. Break longer, new task into smaller task. Use task analysis.
  5. In some instances, children may have tactile and sensory issues.Signs include over and under reacting to pain, avoiding messy textures, picky eaters, and reacting to loud and sudden noises. Strategies include using a sensory diet and create activities using play doh or silly putty.

The following are articles and links to further information on rare diseases found in this blog:

Aicardi Syndrome– A rare genetic disorder that occurs in 1 in 105,000 to 167,000 newborns in the United states and occurs exclusively in females. People with Aicardi Syndrome often have undeveloped tissue which connects the left and right halves of the brain.

Angelman Syndrome– A genetic disorder that affects the nervous system. Characteristics include developmental delays, intellectual disabilities and speech impairments.

Chromosome 22q11.2 (DiGeorge Syndrome)- a rare disorder that is caused by deletion in chromosome 22 located specifically in the middle of the chromosome in the area. It affects 1 out of 4,000 births. Symptoms include developmental delays, poor muscle tone, learning development and feeding issues.

Cri Du Chat– A rare genetic disorder that results when a piece of the 5p Chromosome is deleted. Characteristics include intellectual disability, hyperactivity, and developmental delay.

Dravet Syndrome– A rare form of epilepsy found in children. Symptoms include developmental delays, sleeping conditions, and chronic infections.

Duchenne Muscular– Occurs in 1 out of 3,600 male infants and is characterized by progressive muscle degeneration. early signs include muscle weakness in the hips, pelvic area, thighs and shoulder affecting delayed motor skills, sitting and walking.

Landau Kleffner– Characterized by the gradual or sudden loss of language in children between the ages of 5 and 7.

Lowe 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.

Prader Willi– A genetic disorder resulting from an abnormality of chromosome 15. It is found in 1 in 20,000 births affecting both sexes. It is also the most common recognized genetic form of obesity.

Rett Syndrome– A neurodevelopmental disorder occurring mostly in females in which the child exhibits reduce muscle tone, and autistic-like behaviors including hand movements consisting of wringing and waving. It is a rare disorder that affects about 1 out of 10,000 children.

Williams Syndrome– A rare disorder with a prevalence of 1 in 7,500 to 20,000 caused by the deletion of genetic material from chromosome 7. Signs and symptoms include moderate intellectual disabilities and learning disabilities.

Updated 2/27/24. 

Rare Disease Day

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Date: February 29, 2024

February 29th is the official day of bringing awareness to rare diseases. According to the National Institutes of Health, in the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. Definition of rare disease vary from country to county. In Europe affect 1in 2,000 people and in Canada, more than 3.5 million or 10percent of the population are diagnosed with a rare disease.

Since 2008, Rare Disease Day has raised awareness and bringing attention to the 300 million people worldwide living with the disease. Rare Disease Day is observed every year on February 28 (or 29 in leap years).

Facts You Should Know About Rare Diseases

  • There are over 300 million people living with one or more of over 6,000 identified rare diseases around the world.
  • About half of them are children.
  • Each rare disease may only affect a handful of people but taken together directly affected is equivalent to the population of the world’s third largest country.
  • rare diseases currently affect 3.5%-5.9% of the worldwide population.
  • 72% of rare diseases are genetic while others are the result of infections.(bacterial or viral).
  • 70% of those genetic diseases start in childhood
  • About 30 million people or 1 in 10 people in the United States are affected by a rare disease
  • 95% of rare diseases do not have FDA-approval treatment

Type of Rare Diseases:

Aicardi Syndrome– A rare genetic disorder that occurs in 1 in 105,000 to 167,000 newborns in the United States and occurs exclusively in females. People with Aicardi Syndrome often have undeveloped tissue which connects the left and right halves of the brain.

Angelman Syndrome– A genetic disorder that affects the nervous system. Characteristics include developmental delays, intellectual disabilities and speech impairments.

Chromosome 22q11.2 (DiGeorge Syndrome)- a rare disorder that is caused by deletion in chromosome 22 located specifically in the middle of the chromosome in the area. It affects 1 out of 4,000 births. Symptoms include developmental delays, poor muscle tone, learning development and feeding issues.

Cri Du Chat– A rare genetic disorder that results when a piece of the 5p Chromosome is deleted. Characteristics include intellectual disability, hyperactivity, and developmental delay.

Dravet Syndrome– A rare form of epilepsy found in children. Symptoms include developmental delays, sleeping conditions, and chronic infections.

Duchenne Muscular– Occurs in 1 out of 3,600 male infants and is characterized by progressive muscle degeneration. early signs include muscle weakness in the hips, pelvic area, thighs and shoulder affecting delayed motor skills, sitting and walking.

Landau Kleffner– Characterized by the gradual or sudden loss of language in children between the ages of 5 and 7.

Lowe 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.

Prader Willi– A genetic disorder resulting from an abnormality of chromosome 15. It is found in 1 in 20,000 births affecting both sexes. It is also the most common recognized genetic form of obesity.

Rett Syndrome– A neurodevelopmental disorder occurring mostly in females in which the child exhibits reduce muscle tone, and autistic-like behaviors including hand movements consisting of wringing and waving. It is a rare disorder that affects about 1 out of 10,000 children.

Williams Syndrome– A rare disorder with a prevalence of 1 in 7,500 to 20,000 caused by the deletion of genetic material from chromosome 7. Signs and symptoms include moderate intellectual disabilities and learning disabilities.

Updated 2/29/24

 

What is an ISP?

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People with disabilities that are eligible for community habilitation, day habilitation, supportive employment and support services will receive an Individual Service Plan (ISP).
What is an ISP?

An Individual Support Plan (ISP) is an ongoing process of establishing goals for individuals and identifies supports and strategies that reflect the person’s strength and abilities and details all of the services and supports needed in order to keep the person in their community. The ISP should reflect an opportunity for the person to live in the least restrictive home setting and to have the opportunity to engage in activities and styles of living which encourage and maintain the integration of the individual in the community through individualized social and physical environments.

Who should be included in the development of the ISP?
  • The person receiving services.
  • family members, caregiver, or designated representative
The ISP Planning Process

The ISP should be developed with participation from the following people:

  • The individual
  • Members of the individual’s family
  • A guardian, if any
  • The individual’s Service Coordinator
When is an ISP meeting held?

The meeting is held when it is desired or needed. Some State require meetings every 6 months while others every 2 years, so check with your state regulations.

What is discussed at ISP meetings?

The meeting should focus on 5 areas:

  • Review and gathering information including any new changes or discoveries. Has the person’s health status changed?
  • The person’s goals and desires
  • Review or identify personal value outcomes.
  • Recent events that may affect the person’s health, safety and goals
  • Review and develop next-step strategies and resources
What must the ISP include?

The ISP should include:

  • Specific goals
  • The supports the individual needs to reach those goals without regard to the availability of those goals.
  • Who is responsible for providing those supports.
  • How often and how much support are needed.
  • The criteria foe evaluating the effectiveness of the supports.
  • Team members responsibilities for monitoring the ISP implementation.
  • The date of the next ISP review.

Updated 2/22/24.

ADHD and Dyscalculia (Math)

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Studies suggests that between 4-7% of students have experience difficulty in math compared to 26% of children with ADHD.

This may be the result of the working memory, problem solving skills and inattentive skills all characteristics of a student with ADHD.

What is Dyscalculia?

Dyscalculia is defined as a learning disability specifically in math and numbers including the inability to understand the concept of numbers and applying math principles to solve problems. The following are signs and symptoms of dyscalculia:

  • Difficulty in counting backwards.
  • Difficulty in recalling facts.
  • Slow in performing calculations.
  • Difficulty with subtractions
  • Difficulty using finger counting.
  • Difficulty with the multiplication table
  • Poor mental math skills
  • Difficulty with understanding the concept of time.
  • May show signs of anxiety when conducting math activities.
  • May have a poor sense of direction (i.e. north, south, east, west)
Early signs of dyscalculia include:
  • Delays in learning how to count.
  • Delays in recalling facts.
  • Difficulty with time
  • Displays a poor memory.
  • May lose track when counting.
  • Difficulty sorting items by groups include color, shape, texture, and size.

Accommodations

Students diagnosed with ADHD qualify for accommodation in the classroom. Here are a few suggestions:

The ADHD magazine, ADDitude suggests the following accommodations to help students with ADHD and Dyscalculia:

  • Allow extra time on test
  • Provide frequent checks for accuracy during classroom activities.
  • List clearly numbered steps/procedures for multi-step problems
  • Use individual dry-erase boards.
  • Reduce the number of problems you assign.

VeryWell suggests the following accommodations for students expressing difficulties in math:

  • Allow the student to use desk copies of math facts such as multiplication table factsheet.
  • Allow the use of calculations in the classroom.
  • Provide models of sample problems and allow the students to use these models as a reference.
  • Decrease the number of math problems.
  • Allow the students to use graph paper rather than notebook paper.
  • Provide the student with review summaries to help prepare for tests.

Updated 2/20/24

Angleman Syndrome and Adulthood

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Angelman syndrome is a genetic disorder that affects the nervous system. Characteristics include developmental delays, intellectual disabilities, epilepsy, short attention span, hyperactivity, hand flapping and speech impairments. It is a rare disorder that affects 1 in 12,000 to 20,000 a year. there are less than 200,000 cases a year and affects all ethnicities and sexes equally.

Typically, there is a severe developmental delay and learning disability as well as near absence of speech and ataxia including ataxia including jerky movements of the arms and legs. People with Angelman syndrome generally have a happy demeanor and an inappropriate laughter.

Life expectancy appears to be normal. As people with Angelman syndrome age, scoliosis tends to worsen and for many people born with epilepsy, there are cases where seizures stop, however, they tend to return as the person gets older.

 

Health Issues in Adults

Several research studies show a number of health complications for adults with Angelman syndrome. Less than half of people with Angelman syndrome also have a diagnosis of seizures. Seizures begin in early childhood and can continue through adulthood. Poor sleep in adults continue to be a challenge. This includes difficulty falling asleep, frequent waking up during the night and waking up too early. Other issues include, constipation, scoliosis, self-injurious behavior and obesity.

Due to cognitive and medical needs, a person with Angelman syndrome will always require support. Most people with Angelman syndrome attend a day habilitation setting. Support should include

  • staff trained on identifying seizures and providing assistance.
  • programs that support the person’s short attention span
  • evaluation for a communication device or a means to communicate.
  • support for self-injurious behavior.

Updated 2/15/24.

Teaching Students with Angelman Syndrome

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Angelman Syndrome is a genetic disorder that affects the nervous system, characteristics that include developmental delays, intellectual disability, and speech impairments. Angelman syndrome generally go unnoticed until the age of 1 year. Children typically have a happy demeanor and have a fascination with water

Characteristics include developmental delay, intellectual disability, epilepsy, microcephaly, short attention span, happy demeanor, hyperactivity, hand-flapping.

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.

Associated behaviors include, tongue thrusting, feeding problems during infancy, sensitivity to heat, frequent drooling, and attraction to water.

Developmental delays include fine motor skills such as using a palmar grasp, holding an object, picking up objects, dressing/undressing, brushing teeth and other self-care task.

The following are articles on teaching strategies:

Angelman Syndrome-Bridges for Kids

Angelman Syndrome Educational Material

Angelman Syndrome– Ontario Teachers Federation

Angelman Syndrome– National Association of Special Educators

Angelman Syndrome in the Classroom- Puzzle Place

Communication strategies for children with Angelman Syndrome– Cleveland Clinic

Education Resources- Angelman Resources

Some Angelman Tips– Teaching Learners with Multiple Special Needs

Working with a child who has Angelman Syndrome– St. Cloud State University

Writing instruction for students with Angelman Syndrome– PracticalAAC