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Autism and Prader Willi Syndrome

Autism spectrum disorder is a developmental disability that affects social skills and behavior. It involves difficulties with social communication and interaction as well as restricted or repetitive behaviors. Signs often appear in early childhood and can vary widely between individuals. Early intervention and support services can help people with autism live independently.
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0% found this document useful (0 votes)
29 views9 pages

Autism and Prader Willi Syndrome

Autism spectrum disorder is a developmental disability that affects social skills and behavior. It involves difficulties with social communication and interaction as well as restricted or repetitive behaviors. Signs often appear in early childhood and can vary widely between individuals. Early intervention and support services can help people with autism live independently.
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Annebelle Cadungog 3BSE-A

AUTISM

Autism spectrum disorder (ASD) is a developmental disability caused by differences


in the brain. People with ASD often have problems with social communication and
interaction, and restricted or repetitive behaviors or interests. People with ASD may also
have different ways of learning, moving, or paying attention.

It is estimated that worldwide about 1 in 100 children has autism. The abilities
and needs of autistic people vary and can evolve over time. While some people with
autism can live independently, others have severe disabilities and require life-long care
and support

They are characterized by some degree of difficulty with social interaction and
communication. Other characteristics are atypical patterns of activities and behaviors,
such as difficulty with transition from one activity to another, a focus on details and
unusual reactions to sensation.

Characteristics of autism may be detected in early childhood, but autism is often


not diagnosed until much later. People with autism often have co-occurring conditions,
including epilepsy, depression, anxiety and attention deficit hyperactivity disorder as
well as challenging behaviors such as difficulty sleeping and self-injury. Available
scientific evidence suggests that there are probably many factors that make a child
more likely to have autism, including environmental and genetic factors.

Extensive research using a variety of different methods and conducted over


many years has demonstrated that the measles, mumps and rubella vaccine does not
cause autism. Evidence also shows that other childhood vaccines do not increase the
risk of autism.

Timely access to early evidence-based psychosocial interventions can improve


the ability of autistic children to communicate effectively and interact socially. The
monitoring of child development as part of routine maternal and child health care is
recommended. The health-care needs of people with autism are complex and require a
range of integrated services, which includes health promotion, care and rehabilitation.
Collaboration between the health sector and other sectors, particularly education,
employment and social care, is important. Interventions for people with autism and other
developmental disabilities need to be designed and delivered with the participation of
people living with these conditions.
Main Types of Autism Spectrum Disorders

Asperger’s Syndrome: A child with level 1 spectrum disorder will have above average
intelligence and strong verbal skills but will experience challenges with social
communication. In general, a child with level 1 autism spectrum disorder will display the
following symptoms:

 Inflexibility in thought and behavior


 Challenges in switching between activities
 Executive functioning problems
 Flat monotone speech, the inability to express feelings in their speech, or change
their pitch to fit their immediate environment
 Difficulty interacting with peers at school or home

Rett syndrome is a rare neurodevelopmental disorder that is noticed in infancy. The


disorder mostly affects girls, although it can still be diagnosed in boys. Rett syndrome
presents challenges that affect almost every aspect of a child's life.

 Loss of standard movement and coordination


 Challenges with communication and speech
 Breathing difficulties in some cases

Childhood disintegrative disorder (CDD), the child will have normal development up
to the time when the disorder starts, and regressions suddenly start to occur in more
than two developmental aspects of their life. The child may lose any of the following
skills and abilities:

 Toileting skills if they had already been established


 Acquired language or vocabularies
 Social skills and adaptive behaviors
 Some motor skills

Kanner’s syndrome: Children with Kanner's syndrome will appear attractive, alert, and
intelligent with underlying characteristics of the disorder such as:

 Lack of emotional attachment with others


 Communication and interaction challenges
 Uncontrolled speech
 Obsession with handling objects
 A high degree of rote memory and visuospatial skills with major difficulties
learning in other areas
Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS) is a mild
type of autism that presents a range of symptoms. A child may experience delays in
language development, walking, and other motor skills. You can identify this type of
autism by observing the child and noting what area the child displays a deficit in, such
as interacting with others. PDD-NOS is sometimes referred to as “subthreshold autism,”
as it is a term used to describe an individual that has some but not all symptoms of
autism

Signs and symptoms

Social communication and interaction skills can be challenging for people with ASD.

 Avoids or does not keep eye contact


 Does not respond to name by 9 months of age
 Does not show facial expressions like happy, sad, angry, and surprised by 9
months of age
 Does not play simple interactive games like pat-a-cake by 12 months of age
 Uses few or no gestures by 12 months of age (for example, does not wave
goodbye)
 Does not share interests with others by 15 months of age (for example, shows
you an object that they like)
 Does not point to show you something interesting by 18 months of age
 Does not notice when others are hurt or upset by 24 months of age
 Does not notice other children and join them in play by 36 months of age
 Does not pretend to be something else, like a teacher or superhero, during play
by 48 months of age
 Does not sing, dance, or act for you by 60 months of age

Restricted or Repetitive Behaviors or Interest: People with ASD have behaviors or


interests that can seem unusual. These behaviors or interests set ASD apart from
conditions defined by problems with social communication and interaction only.

 Close-up of child playing with toy blocks on the carpet.


 Lines up toys or other objects and gets upset when order is changed
 Repeats words or phrases over and over (called echolalia)
 Plays with toys the same way every time
 Is focused on parts of objects (for example, wheels)
 Gets upset by minor changes
 Has obsessive interests
 Must follow certain routines
 Flaps hands, rocks body, or spins self in circles
 Has unusual reactions to the way things sound, smell, taste, look, or feel

Other Characteristics

 Delayed language skills


 Delayed movement skills
 Delayed cognitive or learning skills
 Hyperactive, impulsive, and/or inattentive behavior
 Epilepsy or seizure disorder
 Unusual eating and sleeping habits
 Gastrointestinal issues (for example, constipation)
 Unusual mood or emotional reactions
 Anxiety, stress, or excessive worry
 Lack of fear or more fear than expected

Inclusion Strategies for Students with Autism

Use Visual Schedules and Supports to Build Independence

Most educators use some visual supports in their classroom. For example,
writing the schedule for the day on the board is a visual support. It is something
students can look at that helps them understand what the day will look like and what will
be expected of them.

Visual Schedules:

There are several types of visual schedules that can work well to support
students on the autism spectrum. Depending on your student's individual needs a
visual schedule can decrease confusion, support independence, manage anxiety by
preparing a student for transitions, and encourage on task behavior. Here are some
common examples:

 Write the schedule on the board and check off each task as the class moves
through the schedule, or give a student an individual checklist that they can
check off tasks as they complete them.

 Use a pocket chart with images of each part of your schedule. As you
complete the tasks take the task off the chart and put it in a finished pocket
or envelope.
 You can use a To Do/Done Chart to help your student keep track of their
schedule. As your student completes each part of the schedule they can
move a picture from the “To Do” side to the “Done” side. This then prompts
them to look at the next activity and can help with transitions. You can also
create To Do/Done charts for specific activities during the day.

Label Everything

A label can be a word or a picture that quickly tells a student what something is
or where it belongs. You can label workstations, shelves, and cabinets. If you
expect your student to put their backpack in a certain spot, write the word backpack
or hang a picture of a backpack in that area. Anytime your student seems to have
trouble understanding where something goes is a good time to label it.

Color Coding

To promote independence you can also use color coding in your classroom.
There are several ways to color code. You can assign a color to an area or station
in your classroom. This can be done using colored chairs or by placing a piece of
colored tape or construction paper on a table. For example, if you are using centers
on your visual schedule, you could put a blue square next to the math station, a red
square next to the reading station. You can also use colored tape to create visual
boundaries in your classroom.

Provide Accommodations for Stimming Behavior & Movement

Repetitive movements like hand flapping, jumping or making noises are most
likely strategies your student is using to help them self-sooth and stay calm. Often
called “stimming” because it is considered a self-stimulatory behavior, it is usually linked
to strong emotions (such as excitement or frustration). You may see your student exhibit
this behavior when they are feeling overwhelmed, upset, or really happy. Although this
behavior can be distracting in your classroom, you want to accommodate it since is is
often a self- regulation tool that can keep a student’s behavior from escalating.

 Bouncy bands, sensory pillows, tangle, fidget set


 Making a fist and squeezing
 Pushing hands together
 Pushing knees together
 Shrug your shoulders
 Pushing against a wall
 Pulling against a rope tied around a pole on the playground
PRADER – WILLIE SYNDROME

Prader Willie Syndrome PWS is the most common of the genetic disorders that cause
life-threatening obesity in children. The syndrome affects many aspects of the person's
life, including eating, behavior and mood, physical growth, and intellectual development.
The diagnosis is usually suspected because of the symptoms noted above and is then
confirmed by genetic testing on a blood sample, usually ordered by a geneticist. Testing
for the PWS subtype, as mentioned above is important.

One of the main symptoms of PWS is the inability to control eating. In fact, PWS
is the leading genetic cause of life-threatening obesity. Other symptoms include low
muscle tone and poor feeding as an infant, delays in intellectual development, and
difficulty controlling emotions.

What are the symptoms of Prader-Willi syndrome (PWS)?

Feeding and Metabolic Symptoms

As the infants grow into toddlers and children, compulsive overeating replaces
the need for feeding support. Because the metabolic rate of individuals with PWS is
lower than normal, their caloric intake must be restricted to maintain a healthy weight,
often to 60% of the caloric requirement of comparably sized children without the
syndrome.

It persists into adulthood. Unless individuals with PWS live in environments that
limit access to food (such as locked cabinets and a locked refrigerator), they will eat
uncontrollably, even food that is rotten or sitting in the garbage. Uncontrollable eating
can cause choking, a ruptured esophagus, and blockages in the digestive system. It can
also lead to extreme weight gain and morbid obesity. Because of their inability to stop
eating, people with PWS are at increased risk for diabetes, trouble breathing during
sleep, and other health risks.1 For these reasons, people with PWS need to be
monitored by a health care professional their entire lives.

Physical Symptoms

Children with PWS tend to be substantially shorter than other children of similar
age. They may have small hands and feet and a curvature of the back, called scoliosis.
In addition, they frequently have difficulty making their eyes work together to focus, a
condition called strabismus. Infants with PWS are often born with underdeveloped sex
organs, including a small penis and scrotum or a small clitoris and vaginal lips. Most
individuals with PWS are infertile.
Intellectual Symptoms

Individuals with PWS have varying levels of intellectual disabilities. Learning


disabilities are common, as are delays in starting to talk and in the development of
language.

Behavioral and Psychiatric Symptoms

Imbalances in hormone levels may contribute to behavioral and psychiatric


problems. Behavioral problems may include temper tantrums, extreme stubbornness,
obsessive-compulsive symptoms, picking the skin, and general trouble in controlling
emotions. The individual will often repeat questions or statements. Sleep disturbances
may include excessive daytime sleepiness and disruptions of sleep. Many individuals
with PWS have a high pain threshold

Stages of PWS Symptoms

The appearance of PWS symptoms occurs in two recognized stages:

Stage 1 (Infancy to age 2 years)

 "Floppiness" and poor muscle tone


 Weak cries and a weak sucking reflex
 Inability to breastfeed, which may require feeding support, such as tube
feeding
 Developmental delays
 Small genital organs

Stage 2 (Ages 2 to 8)

 Unable to feel satisfied with normal intake of food


 Inability to control eating, which can lead to overeating if not monitored
 Food-seeking behaviors
 Low metabolism
 Weight gain and obesity
 Daytime sleepiness and sleep problems
 Intellectual disabilities
 Small hands and feet
 Short stature
 Curvature of the spine (scoliosis)
 High pain threshold
 Behavioral problems, including the display of obsessive-compulsive
symptoms, picking the skin, and difficulty controlling emotions
 Small genitals, often resulting in infertility in later life

What causes Prader-Willi syndrome (PWS)?

Prader-Willi syndrome is caused by genetic changes on an "unstable" region of


chromosome 15 that affects the regulation of gene expression, or how genes turn on
and off. This part of the chromosome is called unstable because it is prone to being
shuffled around by the cell's genetic machinery before the chromosome is passed on
from parent to child.

Specific changes to the chromosome can include the following:

Deletions. A section of a chromosome may be lost or deleted, along with the


functions that this section supported. A majority of PWS cases result from a deletion
in one region of the father's chromosome 15 that leads to a loss of function of several
genes. The corresponding mother's genes on chromosome 15 are always inactive
and thus cannot make up for the deletion on the father's chromosome 15. The
missing paternal genes normally play a fundamental role in regulating hunger and
fullness.

Maternal uniparental disomy. A cell usually contains one set of chromosomes from
the father and another set from the mother. In ordinary cases, a child has two
chromosome 15s, one from each parent. In around one-fourth of PWS cases, the
child has two copies of chromosome 15 from the mother and none from the father.
Because genes located in the PWCR are normally inactive in the chromosome that
comes from the mother, the child's lack of active genes in this region leads to PWS.

An imprinting center defect. Genes in the PWCR on the chromosome that came
from the mother are normally inactivated, due to a process known as "imprinting" that
affects whether the cell is able to "read" a gene or not. In a small percentage of PWS
cases, the chromosome 15 inherited from the father is imprinted in the same way as
the mother's. This can be caused by a small deletion in a region of the father's
chromosome that controls the imprinting process, called the imprinting center. In
these cases, both of the child's copies of chromosome 15 have inactive PWCRs,
leading to Prader-Willi syndrome.

Characters of students with PWS

People with Prader-Willi syndrome typically have mild to moderate intellectual


impairment and learning disabilities. Behavioral problems are common, including
temper outbursts, stubbornness, and compulsive behavior such as picking at the skin.
Sleep abnormalities can also occur.
Strategies for Prader - Willi Syndrome Students

 Food security is essential, and this is not something that can be ignored.

 Clear, concise and consistent communication of routine and strategies for


communicating changes of routines are absolutely essential

 Allow extra processing time, use clear and unambiguous language, avoid lengthy
instructions and check understanding.

 Due to impaired executive functioning, we strongly recommend the use of visual


schedules, checklists.

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