Mosaic Down Syndrome

Posted on May 20, 2021 by specialneedsresourcetrainingblog

There are 3 types of Down syndrome disorders with mosaic being the rarest. 90 to 95% of people with Down syndrome have trisomy for chromosome 21. According to researchers, 2-4% of people with Down syndrome have mosaicism.

What is Down Syndrome?

Down Syndrome is a chromosomal disorder caused by an extra cell division that results in an extra 21st chromosome. This causes developmental delays both intellectually and physically. It is the most commonly occurring chromosomal condition and is estimated that 1 in every 700 babies in the United States are born with Down syndrome.

Mosaicism

Mosaicism or Mosaic Down syndrome develops when there is a mixture of cells meaning some cells contain the extra copy of chromosome 21 while other cells are typical chromosomes.

Prevalence

It is estimated that 2 or 3 children diagnosed as having Down syndrome carry the mosaic form.
Mosaicism for trisomy 21 was first reported in 1961 by CM Clark, JH Edwards and V. Smallpeice who describe an 11-month old female with good muscle tone, no congenital heart defects, meeting developmental miles yet with eyes similar to babies born with Down syndrome.
By 1964, 24 cases of mosaicism were now on record.
Little is still known on the similarities and differences between trisomy 21 and mosaic trisomy.

Signs and Symptoms

People with Mosaic Down symptoms often have the same health issues as individuals with trisomy but less severe. This includes:

sleep apnea
heart issues
visual impairments
immune disorders

Physical Characteristics

People with Mosaicism vary in physical appearance depending on the number of trisomy cells.

People with Mosaic Down syndrome typically have a higher IQ and are more likely to hold a fulltime job compared to people with trisomy 21 Down syndrome.

Screening Test

Screening test are usually done as routine test during pregnancy health visits.

Updated 5/20/21

What is Cerebral Palsy?

Posted on December 8, 2020 by specialneedsresourcetrainingblog

What is Cerebral Palsy?

Cerebral Palsy is a collection of motor disorders resulting from damage to the brain that can occur before, during and after birth. Congenital cerebral palsy indicates that a person developed cerebral palsy at birth which is the case of the majority of people with cerebral palsy. According to the Centers for Disease Control and Prevention (CDC), Cerebral Palsy (CP) is a group of disorders that affect a person’s ability to move and maintain balance and posture. It is the most common motor disability in childhood. It is estimated that an average of 1 in 345 children in the U.S. have cerebral palsy. For many years, it was thought cerebral palsy was due to lack of oxygen. Studies show this only accounts for 19% of all cases.

Prevalence and Characteristics

Around 764,000 people in the United states have at least one symptom of cerebral palsy
Around 10,000 babies are born each year with cerebral palsy
Boys are diagnosed more often than girls
Cerebral palsy is the mot commonly diagnosed childhood motor disability in the United States
Over 77% of children with cerebral palsy have the spastic form
More than 50% of all children with cerebral palsy can walk independently
African American children with cerebral palsy are 1.7 times more likely to need assistance with walking or be unable to walk at all
Around 41% of babies and children with cerebral palsy will have limited abilities in crawling, walking and running.
Around 41% children with cerebral palsy in the United states have some form of a cognitive disorder
Behavior problems are common in children with cerebral palsy including social skills and anger issues.
Seizures are a common associate disorder of cerebral palsy and can range from mild to extreme severe.
There is no known cure

What Causes Cerebral Palsy?

Studies show that about 10 to 20 percent of children with cerebral palsy acquire the disorder after birth. This includes through infections, jaundice, RH incompatibility and severe oxygen shortage in the brain.

Types of Cerebral Palsy

Ataxic- indicates the muscle tone is too low or too loose

affects 5 to 10 percent of people with cerebral palsy
movements are unsteady and shaking
have difficulty making quick movements

Spastic- refers to the inability of muscle to relax

is the most common type of cerebral palsy
70-80% of people have spastic cerebral palsy
will have difficulty moving from one position to another

Athetoid-uncontrolled twisting movements

Affects 10 to 20% of people with cerebral palsy
often have difficulty holding themselves in an upright position
muscles move involuntarily causing limbs to twitch

Fact Sheet: Learning Disabilities

Posted on October 7, 2020 by specialneedsresourcetrainingblog

Dowwnload Here: learning disabilities

Data and Statistics- Fetal Alcohol Spectrum Disorders (FASD)

Posted on September 4, 2019 by specialneedsresourcetrainingblog

Fetal alcohol disorders range from mild intellectual and behavioral problems to extreme disorders that lead to profound disabilities or premature death.
FAS are not heredity: they are 100 percent preventable the sole cause is prenatal alcohol exposure.
Of the children heavily exposed to alcohol before birth, about 40 percent are estimated to exhibit fetal alcohol disorders, with 4 percent affected by full blown fetal alcohol syndrome.
Women who give birth to a child with FAS are 800 times more likely to give birth to subsequent children with the syndrome than are women who have never given birth to a child with the syndrome.
Each year, there are four times as many infants born with fetal alcohol disorders as there are infants born with muscular dystrophy, spina bifida and Down syndrome combined.
15 out of 100 women of childbearing age do not know that drinking alcohol during pregnancy is dangerous.
FASD affects about 40,000 newborns each year
A survey of pediatrician reported in the journal Pediatrics revealed that only 13 percent routinely discussed the risk of drinking during pregnancy with their adolescent patients.

According to the Center for Substance Abuse Prevention, 1 in 9 pregnant women binge drink during the first trimester.
FASD are 100% incurable
60% of individuals with FASD find themselves in legal trouble at some point in their lives.
There is a high prevalence of epilepsy (5.9%) in individuals with FASD compared with individuals who did not have the disorder.
94% of individuals heavily exposed to alcohol in the womb are diagnosed with ADHD
It is estimated a lifetime cost for one individual with FASD is 2 million
50% of adults with FASD were clinically depressed

SEPTEMBER IS FETAL ALCOHOL SPECTRUM DISORDER AWARENESS MONTH

25 Developmental Disability Links and Resources You Should Know About

Posted on March 11, 2019 by specialneedsresourcetrainingblog

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:

Self-care– brushing teeth, hand-washing and combing hair independently
Receptive and expressive language-ability to understand someone talking and to also be understood
Learning– ability to read and write with understanding
Mobility-ability to move around without any assistance
Self-direction– time management, organization
Capacity for independent living– requiring no supervision
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