Bowel Dysfunction, Myelomeningocele, Autism, Fragile X Syndrome, Klinefelter Syndrome, and Turner Syndrome Notes

Bowel Dysfunction and Valve Programs

• Bowel dysfunction is related to suppositories and valve programs.

• Valve programs involve thoroughly cleaning out the system, especially before long trips.

Common Problems with Myelomeningocele

• Myelomeningocele is a neural tube defect.

• Motor Path Impact:

  • Movement below the defect is affected (paralysis or impairment).

  • The severity depends on how much of the nerve bundle is impacted, ranging from mild to severe.

  • Varying degrees of mobility impairment exist (similar to cerebral palsy classifications).

  • Mild: ambulation with AFO, Moderate: ambulation with adaptive devices, Severe: wheelchair.

• Sensory Nerve Impact:

  • Nerve tracks relaying messages to the brain may be blocked.

  • Individuals experience numbness or tingling below the defect.

  • Severe cases result in a lack of feeling, leading to risk of pressure sores.

Pressure Sores

• Common Skin Problem: pressure sores at bony prominences.

• Common pressure points:

  • Ischial tuberosities (sitting).

  • Tailbone.

  • Heels of feet.

  • Greater trochanter (side-lying).

  • Elbows.

  • Back of the head (especially with hydrocephalus).

  • Shoulders.

• Typical Neurological Functioning:

  • Unconscious position changes occur during sleep.

• Intervention: Repositioning

  • Clients with neural tube defects need to reposition themselves regularly (every 20 minutes).

  • Wheelchair push-ups: Client lifts themselves using armrests to relieve pressure.

  • Wheelchair push-ups relieve pressure on bony prominences and build upper body strength.

Wheelchair Push-Ups

• Wheelchair push-ups are a method for preventing pressure sores.

Reassessing Braces and Splints

• Children outgrow clothes quickly, which is a trigger to reassess AFOs and other braces.

• Ensure braces fit correctly when clothing/shoe sizes change.

• Leg atrophy can be severe in some cases depending on nerve and muscle involvement.

Environmental Assessment

• Assess the environment before sitting down due to potential sensory loss. Check for extreme temperatures.

• Encourage clients to assess surfaces themselves for safety and potential injury.

Treatment Priorities

• Client Independence, encourage the client to do As much as they can themselves.

• Maximize Independence:

  • Encourage independence, mainstreaming in school, and inclusion in society.

• Address Issues from Defect:

  • Address issues related to loss of sensation, loss of movement, or the defect itself.

  • Teach Clean Intermittent Catheterization (CIC) early.

  • Establish a bowel program early.

  • Encourage early ambulation.

• Corrected Hydrocephalus: Recognize signs of a blocked shunt.

  • Train clients to recognize signs and symptoms of a blocked shunt (lethargy, clumsiness, changes in urine).

  • Clients should report issues, not rely on others to discover them.

• Client Education: Educate the clients about their own condition.

• Diet and Exercise: Address bowel dysfunction with proper diet (fluid, fiber) and exercise.

• Diet example: Instead of french fries and hamburgers, maybe you should pick, like, an apple and, I don't know, quinoa or something.

Prophylactic Cardiac Care or Dental Procedures

NOTE. This is not a major points, so you don't need to remember this.

Latex Allergy

• A large percentage of people with neural tube defects are allergic to latex.

• Educate on avoiding latex in self-catheterization supplies, tape, balloons, and gloves.

• Tell people to read the label.

• Report any lesions noticed during catheterization.

Autism Spectrum Disorder (ASD)

• Defined and described in the DSM-5.

• Umbrella Term: Asperger's syndrome is now under ASD.

• Syndrome characterized by specific deficits and diagnostic criteria.

• Spectrum: Ranges from individuals severely impacted to those mildly affected.

Impairments Characterizing Autism

• Three Primary Impacted Areas:

  • Socialization (Social Reciprocity).

  • Communication (Atypical Communication).

  • Repetitive Behaviors.

Social Reciprocity

• The primary area impacted in people with autism.

• Inability to understand nuances of socialization and speech patterns.

• Difficulty understanding sarcasm or non-literal meanings.

• Missing social cues and understanding appropriate behavior in situations.

• Difficulty understanding hidden meanings behind facial expressions.

• Challenges with physical touch and personal space.

Operationalized Skills for Social Development

• Training is designed to interpret verbal and nonverbal messages.

• Teach the hidden meaning behind words and facial expressions when there's an opportunity.

• Interpretation of verbal and nonverbal messages; matching them up.

Difficulties in Social Skills

• Being shunned, ostracized, laughed at, or avoided.

• Experiencing unintended consequences due to socially awkward situations.

Types of Language Impairments

• Communication is the second impacted area of people with autism.

• Echolalic Speech:

  • Repeating what is heard (e.g., "Do you want a cookie?" repeated back).

• Pronoun Issues:

  • Problems understanding and using pronouns correctly (confusing "you" and "I").

  • Example: Saying "You need to go to the bathroom" when meaning "I need to go to the bathroom."

• Labels and Synonyms:

  • Difficulty with labels, attaching more than one label to the same object.

• Sound Quality:

  • Robotic speech or rushed speech patterns are natural sounds being communicated.

  • Imitating people could be a tape recorder.

• Receptive Speech:

  • Difficulty interpreting body language.

Behavioral Abnormalities

• Repetitive Movements:

  • Repetitive rocking or hand-flapping behaviors.

  • Self-stimulatory behavior, especially when anxiety increases.

• Perseveration:

  • Fixation on a particular topic or activity.

Self Stimulatory Behavior

• Atypical motor patterns. And that's often referred to as self stimulatory behavior.

Treatment Program Areas of Focus

• Because of familiarity of repetitive patterns there's a sense of calmness that keeps the anxiety at bay.

Behavioral Abnormalities

• This is the area most focused on in treatment.

• Self-injurious behavior and stereotypic movements.

• Possible causes of the behavior is it's their way of communicating.

• It is imperative to have people know how to train people that are going to be working with the population .

• It shouldn't be trial and area but the interaction should be reactive.
  *

Behaviors Interfering with Nutrition

• Food selectivity is common among people on the spectrum.

• The trick to get them them to accept something other than their typical meal, is to introduce food during snack time.

Areas of Focus for Treatment Program

• Overall address those 3 main areas of impairment, Social Communication and repetitive behaviors.

• Teach reading social cues, read facial cues.

• Patients with autism tend to think in pictures.

• Because of their high visual I.Q.'s visual prompts are incredibly usefull.
  *Note. Consitency is critacal.
  *NOTE . Address and maintain consistency in all 3 key areas of impairment.
  *

PEX

The Picture Exchange Picture System test with potentail question around 10 or 12 years of age when the patient might start to identify items.

Inclusion Preparation

• Talk to the students ahead of what to except talkk to the student (with Austism) about this is Who I Am

• Talk to their parents about what to except.

• Set up the environment for the clients success!
  *

DSM-5 Diagnostic Criteria for Autism

• Inclusion is not that common, but in can happen
  *

X-Linked Disorders Start Here!

• Starting with Framgil X syndrome.

Fragile X Syndrome

• Males vs Females which is going going to be affect the most!!

• The genetic makeup of the patient has much to do with how the disorders going to play out

• What one one the main things you can so as a PT to aide in treatment

  • Helping maintain the intellectual

Fragile X Syndrome in Males

• Individuals tend to have long face.

• Males tend to have low intelligence and large testicals when diagnosed with Fragile X.

• Intellectually, patients with fragile X, typically have behavior that makes it easy to mistake for Austims.

• Intellectualy

  • Communication deficits.

Fragile X Syndrome and Austim Link

*Because of the main behavioral similarites they are easily mixed up*.

Social Anity which is often seen as social disorder which points back to Austism.
Individuals are often seen a very shy.

Fragile X Syndrome Intervcention

s
. Highly structures learning enviroment helps individuals with their learning abilities.
Verble is also one that typically responds well and clear instructions help guide the way.
While typically you see PEX is prevelent method for austim patients, the sight words method are a preferred way for fragile X patients.

• Females do typically succede with out the aids of support.
  One thing that to should be noted and to beware! That femals tends to have many physciatric disorders to go along with it. *.

*Klienfelter with extra X affects the testostertone balance

• Treatment is Testotsterone for Klinefelters

• missing x is Turners*.
  . Treatment is Estrogen replacement.