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Three Low Incidence Syndromes

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by

Carol Snow

on 3 March 2013

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Transcript of Three Low Incidence Syndromes

for SPED 500
by Carol Snow A closer look at three
Low Incidence Syndromes Let's learn more
about learners with Cri-du-Chat Syndrome Cockayne Syndrome Smith-Lemli Optiz Syndrome
(SLOS) * Cri-du-Chat Syndrome

* Cockayne Syndrome

* Smith-Lemli Opitz Syndrome Characterized by: * SLOS is an autosomal recessive, multiple malformation syndrome due to an inborn error of cholesterol synthesis
(metabolic disorder in that the body does not absorb enough cholesterol) Cat Cry or 5p- (five p minus) Syndrome * Syndrome caused by missing a portion of chromosome number five.
* Presents a neurodevelopmental disorder that affects learning and development Characterized at birth by: • High pitched cry
• Low birth weight
• Poor muscle tone (Hypotonia)
• Small head circumference (Microcephaly)
• Widely set eyes (Hypertelorism)
• Low-set ears, a small jaw, and a rounded face
• Possible heart defect Cri-du-Chat Syndrome occurs randomly in an estimated 1 in 20,000 - 50,000 newborns

However The prevalence of cri-du-chat among people who are intellectually disabled may be as high as 1 in every 350 individuals.

Thus, it would not be uncommon for special education professionals to encounter children with cri-du-chat syndrome during their career. Nisha Walking! Watch this 4 minute video showing development in Nisha's mobility from 3 months to 5 years Learning and Development: * IEP Goals should reflect Parent Priorities for the child.
* Collaborative Approach between Parents and Professionals. French for "Cry of the Cat"
also known as Most % Receiving
Desired Skills Training Results of Parent Survey Journal of Developmental and Physical Disabilities • Play therapy centers
Fun and stimulating activities could include
water games, playing out of doors, and music
therapy;
• Small groups and a quiet environment will
facilitate concentration;
• Teach practical life skills
• As children with cri-du-chat syndrome often
understand more than they can express, * it is particularly important to offer individually adapted alternative methods of communication, such as sign language or visual symbols;
* in addition to communication practice, these children should be given oral motor exercises to stimulate and facilitate their speech acquisition;
* a speech therapist can design a program for speech, language and communication training, adapted to the individual child. • Poor growth,
• Small head circumference (Microcephaly),
• Premature aging (Progeria),
• Sensitivity to sunlight,
• Moderate to profound developmental and
neurological delays, and
• A shortened lifespan. In order for a child to be affected by CS, he or she must inherit
a mutation (-) in the same CS gene from both parents. The symptoms of Cockayne syndrome vary significantly, especially with regard to their age of onset and rate of progression. The resulting spectrum of severity can be imperfectly divided into three “types” of CS: Symptoms: * CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities around one year of age. The typical lifespan is ten to twenty years of age.
* CS type II is characterized by growth failure and other abnormalities at birth, with little or no postnatal neurologic development. The typical lifespan is up to seven years.
* CS type III is characterized by a later onset, lesser symptoms, and/or a slower rate of progression. The expected lifespan is unclear, but can extent to forty or fifty years of age. Most beneficial therapies include:
• Physical,
• Occupational,
• Speech,
• Vision, and
• Hearing Individualized educational programs for developmental delay Watch this 4 minute video
about Samantha a Jake, who have Cockayne Syndrome: Cockayne Syndrome, or CS, is a rare genetic disorder causing a neurodegenerative disease. In this 2 minute video you'll get to listen to a 17-year-old young woman explain her SLOS condition. Second/third toes fused together
Cleft palate
Dropping eyelids
Growth failure
Intellectual disability
Behavioral problems
Autistic characteristics Characterized by: The SLOS spectrum is very broad, ranging from a mild disorder with behavioral and learning problems to a lethal malformation syndrome
The incidence of SLOS is on the order of 1 out of 20,000.
SLOS is more common in individuals of European heritage. Since the clinical spectrum for those with SLOS is wide, some children will have remarkably good intellectual function, with developmental quotients in the moderate to mild mental retardation range
others will be in the moderate to severe range, although they still can be very interactive children with good receptive language and communication abilities
although some children with SLOS will learn to walk and talk, independent living as adults is unlikely
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