Notes

A Project is required for the Final Term: Submit a research on a Disability that we are not able to discuss deeply during the Prelim and Midterm...

Research on the disability... everything about it... most importantly, how they can be taught in SPED... including the curriculum...

Hutchinson-Gilford Progeria Syndrome
C
Fibrodysplasia Ossificans Progressiva
Stiff Person Syndrome
Alice in Wonderland Syndrome
Locked-in Syndrome
Arthrogryposis Multiplex Congenita
Hereditary Sensory Neuropathy
Xeroderma Pigmentosum
Paraneoplastic Pemphigus

1. Hutchinson-Gilford Progeria Syndrome
-Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not affect intellectual development or the development of motor skills such as sitting, standing, and walking.
FREQUENCY
-This condition is very rare; it is reported to occur in 1 in 4 million newborns worldwide. More than 130 cases have been reported in the scientific literature since the condition was first described in 1886.
CAUSES
-Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.
INHERITANCE
-Hutchinson-Gilford progeria syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family.
OTHER NAMES OF THIS CONDITION
• HGPS
• Hutchinson-Gilford syndrome
• Progeria
• Progeria of childhood

Hutchinson-Gilford Progeria Syndrome can be taught in a special education (SPED) school by providing age-appropriate materials, modified instruction, and supportive strategies. Teachers can use visuals, simplified language, and hands-on activities to explain the syndrome. They can also encourage discussions and answer questions from students. Additionally, promoting empathy and inclusion among classmates can help create a positive learning environment for everyone.

2. Moebius Syndrome
-Möbius syndrome or Moebius syndrome is a rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the eyes from side to side. Most people with Möbius syndrome are born with complete facial paralysis and cannot close their eyes or form facial expressions. Limb and chest wall abnormalities sometimes occur with the syndrome. People with Möbius syndrome have normal intelligence, although their lack of facial expression is sometimes incorrectly taken to be due to dullness or unfriendliness. It is named for Paul Julius Möbius, a German neurologist who first described the syndrome in 1888. In 1994, the "Moebius Syndrome Foundation" was founded, and later that year the first "Moebius Syndrome Foundation Conference" was held in Los Angeles.
SIGN AND SYMPTOMS
-People with Möbius syndrome are born with facial paralysis and the inability to move their eyes laterally. Often, their upper lip is retracted due to muscle shrinkage. Occasionally, the cranial nerves V and VIII are affected.

Other symptoms that sometimes occur with Möbius syndrome are:[citation needed]

• Limb abnormalities—clubbed feet, missing fingers or toes
• Chest-wall abnormalities (Poland syndrome)
• Crossed eyes (strabismus)
• Difficulty in breathing and/or in swallowing
• Corneal erosion resulting from difficulty in blinking

Children with Möbius syndrome may have delayed speech because of paralysis of muscles that move the lips, soft palate and tongue root. However, with speech therapy, most people with Möbius syndrome can develop understandable speech. Möbius syndrome has been associated with increased occurrence of the symptoms of autism.

TREATMENT
There is no single course of medical treatment or cure for Möbius syndrome. Treatment is supportive and in accordance with symptoms. If they have difficulty nursing, infants may require feeding tubes or special bottles to maintain sufficient nutrition. Physical, occupational, and speech therapy can improve motor skills and coordination and can lead to better control of speaking and eating abilities. Often, frequent lubrication with eye drops is sufficient to combat dry eye that results from impaired blinking. Surgery can correct crossed eyes, protect the cornea via tarsorraphy, and improve limb and jaw deformities. Sometimes called smile surgery by the media, muscle transfers grafted from the thigh to the corners of the mouth can be performed to provide the ability to smile. Although "smile surgery" may provide the ability to smile, the procedure is complex and can take twelve hours for each side of the face. Also, the surgery cannot be considered a "cure" for Möbius syndrome, because it does not improve the ability to form other facial expressions.

Moebius Syndrome can be taught in special education schools by promoting inclusive and supportive environments. Teachers can focus on individual strengths and tailor instruction to meet each student's unique needs. Visual aids, hands-on activities, and simplified language can help students understand and engage with the curriculum. Collaboration with speech therapists, occupational therapists, and other specialists can also provide additional support. Creating a safe and accepting classroom community is essential for students with Moebius Syndrome to thrive and reach their full potential.