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

 

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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.

Early Death in Those with Autism Spectrum Disorder

Published by: Psychology Today
Written by: Michael A. Ellis

Two recent studies will undoubtedly shock individuals and families affected by autism spectrum disorder (ASD). These studies show a much earlier age of death in those with ASD as compared with the general population.

One study, published in the American Journal of Public Health in April 2017, finds the life expectancy in the United States of those with ASD to be 36 years old as compared to 72 years old for the general population.  They note that those with ASD are 40 times more likely to die from various injuries.  About 28 percent of those with ASD die of an injury.  Most of these are suffocation, asphyxiation, and drowning.  The risk of drowning peaks at about 5 to 7 years old.  As 50 percent of those with ASD wander, water safety and swim lessons are a must.  GPS trackers are also available for purchase should a child wander or get lost.  This makes finding the child or adult much easier and faster. Click here to read the rest of the story

Spina Bifida- Facts and Statistics

October is Spina Bifida Awareness Month. Spina Bifida is a birth defect that affects the spine and the spinal cord. The membranes surrounding the spinal cord do not close properly.

Facts and Statistics
  • Each year, about 1,500 babies are born with spina bifida.
  • There is no known cause
  • Accumulation of fluid in the brain affects 70% of children.
  • 40% of shunts fail or become in affected and need to be changed within a year.
  • It can happen anywhere along the spine if the neural tube does not close all the way.
  • Spina Bifida might cause physical and intellectual disabilities that range from mild to severe depending on the size and location of the opening in the spine.
  • Myelomeningocele is the most serious type of spina bifida.
  • Spina Bifida can be diagnosed during pregnancy or after the baby is born.
  • Some people with Spina Bifida may never experience symptoms
  • Spina Bifida occurs between the 3rd and 4th week of pregnancy.
  • Children with Spina Bifida may have difficulty with math, reading comprehension and learning.
  • Common challenges to learning include, fine and gross motor skills, spatial orientation, communication difficulties and attention and memory.
  • Some children with Spina Bifida also have attention deficit hyperactivity disorder (ADHD).
  • Hispanic women have the highest rate of having a child affected by spina bifida, when compared with non-Hispanic white and non-Hispanic black women. Data from 12 state-based birth defects tracking programs from 1997-2007 were used to estimate the total number of pregnancies affected by spina bifida compared to the total number of live births (also called the prevalence of spina bifida) for each racial/ethnic group:
    • Hispanic: 3.80 per 10,000 live births
    • Non-Hispanic black or African-American: 2.73 per 10,000 live births
    • Non-Hispanic white: 3.09 per 10,000 live births
Resources

March of Dimes
1275 Mamaroneck Avenue
White Plains, NY 10605
askus@marchofdimes.com
http://www.marchofdimes.com
Tel: 914-997-4488; 888-MODIMES (663-4637)
Fax: 914-428-8203

Spina Bifida Association
4590 MacArthur Blvd. NW
Suite 250
Washington, DC 20007-4266
sbaa@sbaa.org
http://www.spinabifidaassociation.org
Tel: 202-944-3285; 800-621-3141
Fax: 202-944-3295

References

Centers for Disease Control and Prevention

Children’s Hospital of Philadelphia 

Dyslexia- Facts and Statistics

Dyslexia is a learning disorder which makes it difficult for children and adults to read and learn new words.
Facts and Statistics
  • It is estimated that 1 in 10 people have dyslexia
  • Over 40 million American Adults are dyslexic – and only 2 million know it
  • Dyslexia is not tied to IQ – Einstein was dyslexic and had an estimated IQ of 160
  • Dyslexia in not just about getting letters or numbers mixed up or out of order
  • 80% of people associate dyslexia with some form of retardation – this is not true
  • Dyslexia is a language-based learning disability or disorder that includes poor word reading, word decoding, oral reading fluency and spelling
  • Dyslexia occurs in people of all backgrounds and intellectual levels
  • Dyslexia has nothing to do with not working hard enough
  • 20% of school-aged children in the US are dyslexic
  • With appropriate teaching methods, dyslexia can learn successfully
  • Over 50% of NASA employees are dyslexic
  • Dyslexia runs in families; parents with dyslexia are very likely to have children with dyslexia
  • Dyslexics may struggle with organizational skills, planning and prioritizing, keeping time, concentrating with background noise.

Prevalence

About 15-20 percent of the U.S. population has a learning disability.

  • 70-80% of people with poor reading skills, are likely dyslexic.
  • One in five students, or 15-20% of the population, has a language based learning disability. Dyslexia is the most common of the language based learning disabilities.
  • Nearly the same percentage of males and females have dyslexia.
  • Nearly the same percentage of people from different ethnic and socioeconomic backgrounds have dyslexia.
  • Percentages of children at risk for reading failure are much higher in high poverty, language-minority populations who attend ineffective schools.
  • In minority and high poverty schools, 70-80% of children have inadequate reading skills.
  • According to the National Assessment of Educational Progress (NAEP), 38% of all fourth grade students are “below basic” reading skills. They are at or below the 40th percentile for their age group.
  • Nationwide 20% of the elementary school population is struggling with reading.
  • National Center for Education statistics, 5% of all adults are “non-literate”.
  • 20-25% of all adults can only read at the lowest level.
  • 62% of non readers dropped out of high school.
  • 80% of children with an IEP have reading difficulty and 85% of those are Dyslexic.
  • 30% of children with Dyslexia also have at least a mild form of AD/HD.

 

Reference

Austin Learning Solutions

Dyslexia Center of Utah

Encyclopedia of Children’s Health 

 

October is Dyslexia Awareness Month

ADHD- Facts and Statistics

Attention Deficit Hyperactivity Disorder (ADHD)  is a neurological disorder characterized by a pattern of inattention and/or hyperactivity-impulsivity that disrupts functioning in both children and adults
Facts and Statistics
  • ADHD is a condition characterized by inattentiveness, hyperactivity and impulsivity
  • It is one of the most common neurodevelopmental disorders of childhood
  • It is usually diagnosed in childhood and last into adulthood
  • People diagnosed with ADHD may have difficulty paying attention and or controlling impulsive behavior
  • 70% of people with ADHD in childhood will continue to have it in adolescence
  • 50% will continue into adulthood
  • ADHD is not caused by watching too much, parenting or having too much sugar
  • ADHD may be caused by genetics, brain injury or low birth weights
  • Is a highly genetic, brain-based syndrome that has to do with the brain regulation in executive functioning skills
Prevalence

UNITED STATES

Children & Adolescents

The 2016 National Survey of Children’s Health (NSCH) interviewed parents and reports the following ADHD prevalence data among children ages 2–17 (Danielson et al. 2018):

  • 6.1 million children (9.4 percent) have ever been diagnosed with ADHD. This includes:
    • About 388,000 young children ages 2-5 (or 2.4 percent in this age group)
    • 2.4 million school-age children ages 6-11 (or 9.6 percent in this age group)
    • 3.3 million adolescents ages 12-17 (or 13.6 percent in this age group)
  • 5.4 million children (8.4 percent) have a current diagnosis of ADHD. This includes:
    • About 335,000 young children ages 2-5 (or 2.1 percent in this age group)
    • 2.2 million school-age children ages 6-11 (or 8.9 percent in this age group)
    • 2.9 million adolescents ages 12-17 (or 11.9 percent in this age group)
  • Treatment used by children ages 2-7 with a current diagnosis of ADHD:
    • Two out three were taking medication (62 percent).
    • Less than half received behavioral treatment in the past year (46.7 percent).
    • Nearly one out of three received a combination of medication and behavioral treatment in the past year (31.7 percent).
    • Nearly one out of four had not received any treatment (23 percent).
  • Severity of ADHD among children ages 2-17:
    • 14.5 percent had severe ADHD
    • 43.7 percent had moderate ADHD
    • 41.8 percent had mild ADHD
  • Co-occuring conditions (children ages 2-17):
    • Two out of three children (63.8 percent) had at least one co-occuring condition.
    • Half of all children (51.5 percent) had behavioral or conduct problems.
    • One out of three children (32.7 percent) had anxiety problems.
    • One out of six children (16.8 percent) had depression.
    • About one out of seven children (13.7 percent) had autism spectrum disorder.
    • About one out of 80 children (1.2 percent) had Tourette syndrome.
    • One in a hundred adolescents (1 percent) had a substance abuse disorder.
  • By race or ethnicity (children ages 2-17):
    • 8.4 percent White
    • 10.7 percent Black
    • 6.6 percent Other
    • 6.0 percent Hispanic/Latino
    • 9.1 percent Non-Hispanic/Latino

Adults with ADHD

  • 4.4 percent of the adult US population has ADHD, but less than 20 percent of these individuals seek help for it.
  • 41.3% of adult ADHD cases are considered severe.
  • During their lifetimes, 12.9 percent of men will be diagnosed with ADHD, compared to 4.9 percent of women.
  • About 30 to 60 percent of patients diagnosed with ADHD in childhood continue to be affected into adulthood.
  • Adults with ADHD are 5 times more likely to speed
  • Adults with ADHD are nearly 50 percent more likely to be in a serious car crash.
  • Having ADHD makes you 3 times more likely to be dead by the age of 45
  • Anxiety disorders occur in 50 percent of adults with ADHD.
Reference

Additude Magazine

CHADD- National Resource Center on ADHD

 

 

Down Syndrome- Facts and Statistics

Facts and Statistics

Down syndrome is a genetic disorder that develops when there is an abnormal cell division resulting in an extra copy of chromosome 21.

Facts
  • 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
Prevalence
  • 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
Life Expectancy
  • The life expectancy increased slowly from 1900 to 1960 (by 89%) but rapidly grew from 1960 to 2007 (456%)
Life Expectancy by Race
  • Whites with Down syndrome in the United States had a median death at the age of 50 in 1997 compared to 25 years for African Americans and 11 for people of other races

 

Reference

National Down Syndrome Society

World Health Organization

 

October is Down Syndrome Awareness Month

Cerebral Palsy Organizations You Should Know About

Cerebral Palsy describes a group of permanent disorders of the development of movement and posture. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication and behavior, epilepsy, and by secondary musculoskeletal problems.

According to the Centers for Disease Control and Prevention (CDC), cerebral palsy is the most common motor disability in childhood caused by damage to the developing brain that affects a person’s ability to control his or her muscles. CDC estimates that about 1 in 323 children are diagnosed with cerebral palsy annual.

The following organizations provide resources on their websites including fact sheets, resources and information:

Cerebral Palsy Foundation

Funds cerebral palsy research in the United States, (CPF) promotes the delivery of current research, best practices and technology to people with cerebral palsy and their support system. The mission includes transforming lives through research, innovation and collaboration.

Children’s Hemiplegia and Stroke Association

Helps children who have survived an early brain injury that results in hemiplegia (weakness on one side of the body).

Make LemonAide Foundation

The Make Lemon Aide Foundation is a non-profit organization designed to improve the lives of people with cerebral palsy by raising awareness, funding research and training therapist.

Reaching For The Stars

Founded in 2005, RFTS is the largest pediatric cerebral palsy non-profit foundation in the world led by parents with a focus on the prevention, treatment and cure of cerebral palsy

United Cerebral Palsy

UCP educates, advocates and provides support services to ensure a life without limits for people with a spectrum of disabilities. UCP provides services and support to more than 176,000 children and adults through its 68 affiliates around the country.

CP Daily Living

An educational resource website and Facebook page designed to give families and caregivers a central place for practical information and resources.

Cerebral Palsy Alliance

A non-profit organization based in Australia. Provides services to help children and adults living with neurological and physical disabilities.

National Institute of Neurological Disorders and Stroke

NIDS mission is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disorder. The website provides patient and caregiver education on cerebral palsy including an informational page.

What is Childhood Obsessive-Compulsive Disorder?

OCD is a neurobiological condition. It is estimated that 1% to 3% of children and adolescents are affected by obsession- compulsive disorder (OCD).The DSM-IV defines OCD as persistent thoughts, impulses, or images that are experienced as inappropriate and the cause of anxiety and distress. These thoughts cause obsession as a way to ease their anxiety. Your child may perform repetitive actions such as chewing food a certain number of times, refusing to eat certain foods, separation anxiety or a need for order and perfection

Obsessive Compulsive Disorder (OCD) Infographic