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.
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
“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:
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
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
Use visuals such as diagrams, graphics and pictures.
Give clear directions
Use multiple models including visual and auditory learning models
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:
Impaired coordination affecting arms or legs
Uncontrolled eye movement
Difficulty performing fine motor task
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.