Neural Tube Defects and Fragile X Lecture

Myelomeningocele/Meningomyelocele

  • Bowel Program:

    • Involves cleaning out the bowels thoroughly, especially before long flights, to prevent accidents.

  • Neural Tube Defect Impact:

    • Motor Path: Damage to the motor pathways affects movement below the defect.
    • Sensory Nerves: Sensory nerves going up to the brain are also affected, leading to:
      • Numbness or tingling.
      • Complete loss of sensation.

  • Varying Degrees of Impairment:

    • Mobility: Ranges from mild (AFO) to moderate (adaptive devices) to severe (wheelchairs).
    • Sensory: Ranges from numbness/tingling to complete loss of sensation.

  • Pressure Sores:

    • Risk: Loss of sensation increases the risk of pressure sores on bony prominences.
    • Common Sites:
      • Sacrum.
      • Tailbone area.
      • Heels.
      • Greater trochanter.
      • Elbows.
      • Back of the head (especially in hydrocephalus).
      • Shoulders.
    • Intervention: Regular repositioning is crucial.
      • Wheelchair Push-ups: Lifting the body using armrests to relieve pressure. This also builds upper body strength.

  • Reassessing Braces and Splints:

    • Importance: Adjust AFOs or braces when children change clothing/shoe sizes to avoid ill-fitting supports.

  • Muscle atrophy:

    • Muscle atrophy increased if there's damage to the nerve.

  • Environmental Awareness:

    • Assess surfaces before sitting to avoid burns from hot metal benches, etc.

Treatment Priorities

  • Independence:

    • Encourage clients to do as much as possible for themselves.
    • Promote mainstreaming in school and inclusion in society.

  • Addressing Deficits:

    • Teach self-catheterization (CIC) early.
    • Start bowel programs early.
    • Encourage early ambulation.

  • Hydrocephalus:

    • Train clients to recognize signs of a blocked shunt (e.g., lethargy, clumsiness).

  • Bowel Dysfunction:

    • Address with proper diet and exercise.

Latex Allergy

  • High prevalence in individuals with neural tube defects.
  • Education: Teach clients to check labels and avoid latex products (catheters, tape, balloons, gloves).
  • Report: Report any lesions noticed after catheterization.

Autism Spectrum Disorders (ASD)

  • Definition:

    • Defined by the DSM-5 as a spectrum disorder with varying degrees of impact.

  • Key Impairments:

    • Socialization (Social Reciprocity).
    • Communication (Atypical Communication).
    • Repetitive Behaviors.

Socialization Deficits

  • Inability to understand nuances of social interactions.
  • Difficulty interpreting tone of voice, affect, and sarcasm.
  • Inappropriate behavior in social contexts.

Communication Difficulties

  • Inability to share experiences with others.
  • Not understanding implicit social rules.

Repetitive Behaviors

  • Odd activities and interests.

Operationalized Skills for Social Development

  • Training individuals with autism to interpret verbal and nonverbal messages.

Difficulties Due to Deficient Social Skills

  • Being shunned or ostracized.
  • Experiencing unintended negative consequences.

Language Impairments in Autism

  • Echolalic Speech:

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

  • Pronoun Issues:

    • Confusion with pronouns (using "you" when meaning "I").

  • Labels and Synonyms:

    • Difficulty attaching multiple names to objects or applying the same label to different objects.

  • Sound Quality:

    • Robotic tone or rushed speech.

  • Receptive Speech:

    • Difficulty understanding body language.

*Atypical motor patterns, and that's often referred to as self self stimulatory behavior, but I just I just address it as kind of atypical behavioral pattern.

*Concept of perseparation, and that's basically kind of the individual becoming, for lack of a better word, fixated on on, like, a particular topic

  • The familiarity leads to kind of a sense of calmness.

Self-Injurious Behavior and Stereotypic Movements

  • Repetitive behaviors (hand clapping, rocking).

Behaviors Interfering with Nutrition

  • Food Selectivity:
    • Eating only certain foods (specific colors, textures).
    • Intervention: Introduce new foods during snack time, start with preferred foods.

Areas of Focus for Autism Treatment Programs

  • Address socialization, communication, and behavior.

  • Thinking in Pictures:

    • Utilize Picture Exchange Communication System (PEX).
    • PEX: Effective for individuals 12+; younger individuals require actual objects.

Consistency

  • Consistency is critical with clients with autism

  • Visual Prompts: Gestures, visual cues, pictorial prompts can be incredibly useful.

  • Preparing for Inclusion:

    • Educate others about autism.
    • Have people be educated about what autism is all about and how you can work with him.
      • Address and educate parents and students about what to expect.
      • Set up the environment for success; still gonna have the needs of somebody with autism

Genetic Disorders

  • Gender and Genes:
    • XX = Genetically Female
    • XY = Genetically Male

X Linked Disorders

  • Definition:
    • Genetic disorder caused by a mutation on the X chromosome.
    • Formerly known as sex linked disorders

Fragile X Syndrome

  • Cause: Missing pieces of the X chromosome.

  • Impact: Males are more severely affected because they have only one X chromosome.

  • Male Characteristics:

    • Physical: Long, narrow faces, prominent jaw and forehead, large protruding ears, larger-than-normal testicles after puberty.
    • Intellectual: Developmental delay, language issues, socialization issues.
    • Common Intellectual findings:
      • Often mistaken for Autism.
      • More than 80% of clients fall into Mild to Moderate range
    • Link between Fragile-X and Autism.
      • clients with fragile X often have Perseverative speech patterns where they'll basically kind of repeat the same things over and over.
      • Social anxiety.
      • the preservative aspect
      • Social isolation
      • Poor eye contact
      • Motor behaviors such as hand clapping which again, very easy to mistake for autism

    Treatment Modalities.

    • They respond to a Highly Structured Environment Verbal Instruction.

    • It needs to be CLEAR!.

    • Teach Sight Words

    • Doing mathematical concepts with manipulatives.

Treatment Interventions.

*   Sighted words, visual prompts, high structure environment where they're very clear to the patients.

Females with Fragile X.

*   Socially Inverted,

  Treatment includes social training and verbal interventions

Intervention treatment.

  • High structure
  • Verbal instructions in small steps
  • Manipulatives

Klinefelter Syndrome

  • Genetics: XXY (extra X chromosome).
  • Treatment: Testosterone therapy around puberty.

Turner Syndrome

  • Genetics: X0 (missing an X chromosome).
    • This is the only conditions which complete absence of chromosome is compatible with life.
  • Treatment: Estrogen therapy when discovered, at whatever age that may be.

Link Between Extra X Chromosomes and Functioning

  • General Rule: More X chromosomes generally lead to more severe intellectual impairment.