Special Needs Resource and Training Blog

Providing online disability awareness education and training resources

Stopping dementia in Down syndrome patients

Published by: Medical Express
Written by: Kyoto University

Down syndrome is mostly known for the learning disabilities it causes, but patients typically suffer from a wide number of ailments. One is the early onset of Alzheimer’s disease. Using iPS cells from Down syndrome patients, a new study by CiRA researchers suggests that the molecular signs of Alzheimer’s disease result from higher oxidative stress in neurons and that antioxidants could have therapeutic effects.

“The extra copy of the gene increases the expression of APP and the subsequent production of beta-amyloid, and many Down syndrome patients with cognitive impairment show high levels of beta-amyloid plaques,” explains CiRA Associate Professor Megumu Saito, who led the study. Click here to read the rest of the story.

 

Help prevent vision loss from keratoconus in patients with Down syndrome

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

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.

An Overview of Cri du Chat Syndrome

Published by: Verywell Health
Written by: Abby Norman

Cri du Chat Syndrome (French for “cat cry”) is a rare chromosomal disorder caused by missing or deleted portions of chromosome 5. Infants who are born with the syndrome often have a high-pitched cry that sounds like a cat, hence the condition’s name. Since the condition occurs due to missing portions of the short arm (p) of chromosome 5, Cri du Chat is also known as 5p- (5p minus) syndrome.

Close-up of a crying baby.
Dimitri Otis/Getty Images

Symptoms

The key physical characteristics and symptoms of Cri du Chat syndrome are caused by missing or deleted genes in the small arm (p) of chromosome 5. Researchers suspect that the specific set of symptoms associated with Cri du Chat, and the severity of those symptoms, is linked to the size and location of the deleted or missing portion of the chromosome.

Like other chromosomal disorders, the symptoms and severity of the condition vary from person to person. However, there are a few key manifestations of the condition that are noticeable from birth. These hallmark features include:

  • Low birth weight
  • Poor sucking reflex
  • Slow growth or failure to thrive
  • A high-pitched, mewling cry that sounds like a cat
  • Low muscle tone

While they may not have all of the features, many newborns with Cri du Chat have distinct physical characteristics, including:

  • A small head (microcephaly) and jaw
  • An abnormally round face
  • Malocclusion of the teeth
  • Wide-set, downwardly slanted eyes
  • Extra skin folds around the eyes
  • Low-set ears
  • “Webbing” of fingers and toes (syndactyly)
  • Cleft lip or cleft palate

As children with the condition grow up, they may begin to show and experience a spectrum of symptoms related to Cri du Chat, as well as other disorders commonly found in people diagnosed with the condition, including:

  • Motor, cognitive, and speech delays
  • Moderate to severe intellectual disability
  • Psychomotor disability
  • Seizures
  • Autism-like behaviors, such as hand flapping, rocking, and noise sensitivity
  • Scoliosis
  • Congenital heart defects (around 15–20 percent of patients)
  • Hernias
  • Behavioral issues such as tantrums and poor attention/impulse control
  • Walking with a slow, guarded gait or the need for mobility aids, including wheelchairs
  • Self-destructive behaviors like head banging and skin picking
  • Recurrent infections (particularly respiratory, ear, and gastrointestinal)
  • Nearsightedness
  • Constipation
  • Kidney or urinary abnormalities
  • Premature graying of hair
  • Trouble sleeping
  • Toilet training issues

Causes

Cri du Chat syndrome was first described in 1963 by a French pediatrician named Jérôme Lejeune. Lejeune is most well-known for discovering the genetic basis of trisomy 21 (Down syndrome). Click here to read the rest of the story

Tracking Eye Movements Can Measure Chronic Desire to Overeat

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.

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.

 

 

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