Tag Archives: rare disease

An Overview of Cri du Chat Syndrome

Posted on by

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

What is Turner Syndrome?

Posted on by

February is Turner Syndrome Awareness Month. It is a rare disease that occurs in between one and 2,000 birth only affecting females. Turner Syndrome has several names including Ullrich-Turner Syndrome, Bonnevie-Ullrich-Turner Syndrome. gonadal dysgenesis and 45X. This rare disease is the result of the absence of one set of genes from the short arm of one X chromosome.

Special Needs Challenges

While girls and women with Turner Syndrome usually have normal intelligence, there is a risk of learning disabilities involving spatial concepts including math and memory and ADHD

Teaching Strategies:

Young girls diagnosed with Turner Syndrome during their early development may have delays in learning the alphabet, speech, difficulty in following one command at a time and conceptual difficulties such as up and down. Signs and symptoms of math or dyscalculia challenges include difficulty with counting money, estimating time, losing track when counting and remembering phone numbers or zip codes. The following strategies should be used when teaching students diagnosed with Turner Syndrome:

  • Use flashcards to aid in memory as well as workbooks, games and video’s.
  • Break learning into smaller steps by using a task analysis framework.
  • Administer probing and feedback as a check in
  • Model instructional practices
  • Provide prompts
  • Use visuals such as diagrams, graphics and pictures.
  • Give clear directions
  • Use multiple models including visual and auditory learning models
  • Make sure directions are clear
  • Allow time to process and take notes

 

Resources

Associations
Turner Syndrome Foundation
Turner Syndrome Society of the United States
Turner Syndrome Support Society- UK

Facts and Statistics- Ataxia

Posted on by

Ataxia is a rare disorder that affects both children and adults. I was quite surprise to find that very little statistics have been conducted on ataxia. this may be due to the understanding that Ataxia is not a specific disorder, rather, a condition can cause ataxia including multiple sclerosis, head trauma, cerebral palsy and infections.

Ataxia affects a child’s coordination, balance and speech while some children are born with ataxia as a result of genetics, others develop it in a progressive matter. Signs and symptoms of Acute Cerebellar Ataxia include:

  • Frequent stumbling
  • Impaired coordination affecting arms or legs
  • Unsteady gait
  • Uncontrolled eye movement
  • Difficulty performing fine motor task
  • headaches

The following are facts and statistics on the Ataxia disorder:

  • It is a degenerative disease of the nervous system
  • Symptoms, often mimic being drunk in adults such as slurred speech
  • Age of symptom can vary from childhood to late adulthood
  • rare recessive genetic disorder
  • occurs between 1 out of 40,000 and 1 out of 100,000
  • The word ataxia refers to clumsiness or a loss of balance and coordination
  • The ataxia gene was first identified in 1993
  • Ataxia is inherited
  • Ataxia is a sign of an underlying disorder
  • It is caused by damage to different areas of the central nervous system
  • The most common symptom in children is an unsteady gait
  • In some cases, ataxia can present itself rapid while in others, it is progressive.
  • The most common cause of acute ataxia in children are excessive drug ingestion and drug intoxications
  • There are from 50 to 100 different types of Ataxia.

Duchenne Muscular Dystrophy

Posted on by

Image result for duchenne muscular dystrophy awareness month

Click here to download a printed version

February 13th is the first day of Duchenne Muscular Dystrophy Awareness Week. Here are some facts on Duchenne Muscular Dystrophy:

  • It is one of the nine types of muscular dystrophies
  • Duchenne muscular dystrophy was first described by French neurologist, Guillaune Benjamin Amand Duchenne in the 1860’s.
  • It is an inherited disorder
  • It is caused by an absence of dystrophin, a protein that bonds the muscle cell
  • It is characterized by progressive muscle degeneration
  • It occurs in about 1 out of every 3,600 male infants
  • Risks include a family history of Duchenne muscular dystrophy
  • Symptoms start appearing between the ages of 3-5.
  • By the age of 12, most males affected may lose their ability to walk
  • Breathing difficulties and heart disease usually start by the age of 20
  • Very rare are females affected by the disease.
  • Early symptoms include muscle weakness in the hips, pelvic area, thighs and shoulders.
  • By teen years, the heart and respiratory muscles are affected.
  • Duchenne muscular dystrophy carriers are females with one normal dystrophin gene on one x chromosome and an abnormal dystrophin gene on the other x chromosome
  • Most carriers do not show any signs or symptoms.
  • Affected children may have delayed motor skills including sitting, standing and walking.
  • Survival into the early 30’s is becoming more common due to advances in cardia and respiratory care.
  • Duchenne is associated with a heart disease that weakens the cardiac muscle
  • Between 400 and 600 boys in the United States are born with these conditions each year.
  • there are a few cases which results from new mutations in affected males
  • steroid drugs can slow the loss of muscular strength
  • There is no known cure for Duchenne muscular dystrophy