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Category Archives: Developmental Disabilities

Trisomy Syndrome Facts and Statistics

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Trisomy 21 (Down Syndrome)
  • 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

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

 

Trisomy 18 (Edwards Syndrome)
  • 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
Trisomy 13 (Patau Syndrome)
  • Trisomy 13 is the presence of an extra chromosome 13 in all cells
  • Mosaic trisomy 13- the presence of an extra chromosome in some of the cells
  • Partial trisomy 13- the presence of a part of extra chromosome 13 in the cells
  • Occurs in about 1 out of every 5,000 to 16,000 newborns
  • The brain is mostly affected
  • Most children tend to have a heart defect
  • Was first described in 1657
  • 44% of babies born die within the first month of birth
  • In the first month of birth, 69% die by 6 months
  • Only 18% reach their first birthday
  • It is not inherited
  • Are usually born with an intellectual disability.

Help prevent vision loss from keratoconus in patients with Down syndrome

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Published by: Healio Optometry
Written by: Mitch Ibach

Keratoconus, like many ocular diseases, has genetic, systemic and environmental associations that affect prevalence.

One of the systemic conditions where keratoconus incidence is much higher is in the Down syndrome (DS) population.

DS is a genetic condition where the affected individual gets three (full or partial) copies of chromosome 21 (trisomy 21). According to the National Down Syndrome Society, one in 700 babies in the U.S. is born with DS, making it the most common chromosomal disorder.

As keratoconus (KCN) awareness continues to rise, disease prevalence studies are variable, but the trend continues to show higher incidence than previously thought.

Certain regions show higher patient numbers, but using a recent systematic global review, the authors concluded about one in 750 patients develop KCN (Hashemi et al.). In patients with DS, KCN prevalence has a larger range depending on inclusion criteria to define it, but a recent literature review showed a condensed range of 8% to 36% (Kristianslund et al.). This aligns with reported incidence of KCN being 10 times to 20 times higher in a patient with DS compared to the general population (National Keratoconus Foundation). Click here for the rest of the story.

UNMC studying how video-game therapy helps young people with cerebral palsy

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Published by: 6 News
Written by: Sharon Chen

UNMC is one of the first in the nation to go high-tech for a treatment program for kids diagnosed with cerebral palsy.

CP is a motor disability, and it’s treated with intense physical therapy. Usually kids don’t like it.

But that’s not the case at UNMC’s Munroe-Meyer Institute.

A total of eight kids attended Habit VR Camp, a two-week video-game camp at the University of Nebraska Medical Center.

At the camp, there’s more going on than meets the eye.

“They come in here, they sit down, and they put the headsets on, and they do right to work.”

Cameron Jenkins, 8, was diagnosed with cerebral palsy at just a year old.

“He had issues with his left hand since he was an infant,” his mom, Amanda, said. “It was all a shock because he was so young when he was diagnosed.” Click here to read the rest of the story.

Tracking Eye Movements Can Measure Chronic Desire to Overeat

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Published by: Prader Willi Syndrome News
Written by: Steve Bryson

Tracking the eye movements of children with Prader-Willi syndrome (PWS) may be a non-invasive, low-cost, and reliable method to assess their chronic desire to overeat, known as hyperphagia, a study suggests.

The study, “Eye tracking as an objective measure of hyperphagia in children with Prader‐Willi syndrome,” was published in the American Journal of Medical Genetics.

One of the hallmarks of PWS is an insatiable appetite that leads to hyperphagia and obesity.

The primary source of information about hyperphagia comes from questionnaires which, while specifically focusing on symptoms, are an indirect measure and can be subject to bias. As such, more objective ways of measuring hyperphagia are needed to help support research and clinical trials.

Eye tracking is a non-invasive way of measuring specific physiological processes. Research has shown that stimuli in the visual field that attract one’s attention are linked to a higher number and longer duration of eye gaze fixations, or looking at a single point.

A recent food-based eye tracking study investigating children and adults with PWS found an increased number of gaze fixations and repeated gazes at the same item (perseverations) was associated with higher (more severe) hyperphagia scores, as reported by caregivers. Notably, this was only observed when food items were presented along with animals, given that people with PWS have a well-known strong desire to care for babies and animals.

In the new study, researchers at Vanderbilt University Medical Center, along with investigators at Case Western Reserve University and Istanbul Medipol University, in Turkey, designed an eye-tracking study to test its ability to measure hyperphagia in young children with PWS, ages 3–11.

As hyperphagia develops gradually over a wide age range, examining gaze patterns in response to food may be a sensitive way to determine hyperphagia-related changes, the scientists said.

A total of 57 children were recruited along with 47 typically developing children as a comparison group. While there were no differences in age or body mass index (BMI) between the two groups, children with Prader-Willi had lower IQ, as assessed with the Kaufman Brief Intelligence Test-2.

Hyperphagia was assessed using the 9-item Hyperphagia Questionnaire-Clinical Trials filled out by parents, which measures hyperphagic behaviors, drive, and severity — including persistence in food-seeking and reactions to food restriction. Responses were based on behaviors across different environments, such as home, school, and the community, during the two weeks before the assessment.

In addition, parents in the PWS group completed a survey to determine their child’s nutritional phase — ranging from failure to thrive to full hyperphagia.

Color images of common foods, animals (in non-aggressive poses), and household objects served as the visual stimuli. Click here to read the rest of the story.

 

 

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.

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 is extremely rare. There are approximately 100 known case.

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.
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. The following are used as a way to manage the disorder.

  • special education
  • speech therapy
  • physical therapy
  • seizure medication.
Resources
  1. Genetics Home Reference
  2. Wikipedia
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