Normalization, Down Syndrome, and Neural Tube Defects Lecture

Normalization and Adaptive Domains

  • Adaptive domains include communication, socialization, academics, psychological well-being, and home living.
  • Normalization aims to make these domains as normal as possible for individuals with developmental disabilities.
  • This is achieved in the least restrictive manner possible.

Applying Normalization

  • Example: Cooking (Kitchen Domain)

    • For an 18-year-old, a reasonable skill to expect is making spaghetti with meatballs.
    • The goal is for the client to perform this independently or with minimal verbal prompts.

  • Example: Community (Driving Domain)

    • For a 12-year-old, understanding traffic rules or using public transportation safely is appropriate.
    • This could involve knowing when it's safe to make a left turn based on road markings.

Inclusion

  • Inclusion means integrating individuals into community-based interventions in the least restrictive way.

  • Example: Strengthening Arms for a Client with Paraplegia

    • Instead of doing exercises in a clinical setting, the client should work out at a regular gym.

  • Example: Socialization and Sexuality

    • A client wanting to take a peer on a date should choose a typical setting like a restaurant or movie theater.
    • The environment should be natural and appropriate.

Appropriateness

  • Two types:

    • Age appropriateness: Activities should match the client’s chronological age.
    • Activity appropriateness: Behavior and attire should be suitable for the activity.

  • Age Appropriateness

    • Chronological age is more important than mental age.
    • Example: Sumner Ganberry School: Providing age-appropriate toys and activities for students with disabilities.
    • Adaptations and supports should enable clients to participate in activities typical for their age group.

  • Activity Appropriateness

    • Dressing appropriately for the occasion (e.g., not wearing a three-piece suit to a swim party).
    • Example: Job Interview: Not wearing shorts, flip-flops, and a tank top to a psych tech job interview.

Normalizing Activities (Examples from Module)

  • Page 54:

    • Replacing childish toys with age-appropriate vocational tasks (e.g., computer parts instead of baby blocks).
    • Using a pottery wheel instead of playing with Play-Doh.
    • Using a smartphone for purchases instead of playing Connect Four.

  • Page 55:

    • Knitting instead of simple arts and crafts.
    • Making stone bracelets instead of plastic bead crafts.
    • Creating framed artwork instead of gluing glitter on leaves.

  • Page 56:

    • Creating a Zen garden instead of playing in a sandbox.
    • Playing regular croquet instead of animal croquet.

  • Page 57:

    • Riding a real horse instead of a merry-go-round.
      • Hippotherapy (horseback riding) is used for individuals with Autism.
    • Using a real punching bag at the gym instead of a bozo punching bag.
    • Creating forever flowers with resin instead of making lollipops.

Down Syndrome

Genetic Disorder

  • Down syndrome is a genetic syndrome caused by extra chromosomal material.

Medical Complications (Page 95)

  • Congenital Heart Defect

    • Approximately 44% of clients with Down syndrome have a congenital heart defect.
    • Assume they do until proven otherwise.
    • Signs and symptoms: chest pain, irregular heartbeat, low energy, poor peripheral circulation, clubbing of fingernails.
    • Implications: Seek medical permission before strenuous activity.

  • Ophthalmic Disorder

    • Over half have some ophthalmic abnormality.
    • Expect the client to use glasses.
    • Compensations: bright contrasting colors, increased font size, increased illumination.

  • Hearing Loss

    • Two-thirds have some hearing loss.
    • Expect the person to have a hearing aid.
    • Compensations: avoid yelling, increase voice tone somewhat, augment speech with gestures.

  • Endocrine Abnormalities

    • Up to 90% have endocrine abnormalities, with hypothyroidism being common.
    • Treatment: levothyroxine.
      • Signs of thyroid toxicity (hyperthyroidism): exophthalmos, sweating, jitteriness, high energy (resembles Graves' disease).

  • Growth Problems

    • At least half are shorter than their peers.
    • Hypothyroidism can cause weight gain, leading to obesity (at least 60% of clients).
    • Obesity and heart disease can create additional strain on the heart.

  • Orthopedic Abnormalities

    • Weak ligamentations can lead to subluxation (partial dislocation).
    • Atlantal axial subluxation (neck) can impact functional movements.
    • Signs of subluxation: loss of coordination, sloppier handwriting, difficulty with fine motor tasks.

  • Dental Problems

    • 100% have some oral/dental/periodontal problem.
    • More prone to periodontal disease than cavities.
    • Malocclusion (crowded teeth) can affect speech.
    • Oral hygiene is crucial; use water flosser (like Waterpik) instead of traditional flossing.

  • Skin Conditions

    • About half have skin conditions: eczema, seborrhea, psoriasis, etc.
    • Intervention: skin assessment during bathing, topical treatments.

  • Alzheimer's

    • 20% develop early-onset Alzheimer's, starting as early as their 40s.
    • Disease progression is faster.

Adaptive Weaknesses

  • Short-term verbal memory is an issue.
  • Use short, simple, and direct verbal prompts.
  • Poor speech articulation.

Adaptive Strengths

  • Visual-spatial skills are higher than average.
  • Learn sign language quickly.
  • Respond well to visual reminders and prompts.

Maximizing Educational Programs

  • Maximize inclusion to provide age-appropriate interactions and modeling.
  • Address adaptive weaknesses in vision/hearing and maximize visual-spatial strengths.

Assist Language Development

  • Use all communication methods: signs, gestures, verbal speech.
  • Because of issues with verbal speech and strength in visual spatial, prioritize gestures and signs.

Special Labs, Tests, and Checkups

  • Congenital Heart Defect: Test at birth; if positive, test as needed.
  • Ophthalmic Disorders: Test as soon as possible; if any abnormality, check yearly.
  • Hearing Loss: Test at birth; if hearing loss, monitor yearly.
  • Endocrine Abnormalities (Hypothyroidism): Monitor T3/T4 levels annually.
  • Orthopedic Abnormalities (Subluxation): X-ray prior to engaging in youth sports activities.
  • Skin Conditions: Assess daily.
  • Alzheimer's: Observe for signs of cognitive decline, starting in the early 40s.
  • Dental: See dentist every six months.

Expected Outcomes

  • Clients with Down syndrome tend to integrate well into general society, especially with early inclusion.
  • Early-onset Alzheimer's can affect their outcome.

Risk Factors for Oral Disease

  • Not performing the recommended oral hygiene (brushing, water flossing).

Neural Tube Defects

Definition

  • A neural tube defect occurs when the neural tube fails to close properly during embryonic development, resulting in a gap or defect.
  • The neural tube develops into the brain, spinal cord, and supporting structures.

Types of Neural Tube Defects

  • Meningocele: A sac with meninges (connective tissue) protruding.
  • Myelomeningocele (or Meningomyelocele): A sac with meninges and spinal cord protruding.
  • Hydrocephalus: Buildup of cerebrospinal fluid in the brain.
  • Anencephaly: Absence of a major portion of the brain, resulting in spontaneous miscarriage or death shortly after birth.
    • Symptoms may include non-functioning hypothalamus, where the individual's thermal regulation system is off.

Comparison of Meningocele and Myelomeningocele

  • A meningocele is not serious since meninges have no neurological function.
  • A myelomeningocele is problematic due to the spinal cord's involvement.

Effect of Myelomeningocele on Function

  • The higher the lesion, the poorer the prognosis.

  • Anything below the impairment will be affected.

  • A C-level lesion resembles quadriplegia.

  • T level, L level, and S level lesions generally resemble paraplegia.

    • It is important to note that a lower lesion may still affect speech.

  • Clients will also need a lot of self examination and use of padding as they will not be able to feel sensory input.

Interventions for Ambulation

  • Interventions used for quadriplegia or paraplegia apply to neural tube defects as well (wheelchairs, AFOs, HKAFOs, PT/OT).

Connection Between Myelomeningocele and Hydrocephaly

  • The kink due to myelomeningocele causes a buildup of pressure (hydrocephalus).
  • Signs of uncorrected hydrocephalus in an infant:
    • Bulging anterior fontanelle (firm when pressed).
    • Sunset gaze (eyes fixed in a downward slant).
    • Lethargy.
  • Correction involves inserting a shunt to drain fluid.

Blocked Shunt

  • A blocked shunt is a medical emergency.

  • In an infant, it resembles uncorrected hydrocephalus.

  • In an adult (sealed fontanels), it resembles increased intracranial pressure (ICP).

  • A partially blocked shunt may resemble atlantal axial subluxation, with uncoordination and clumsy behavior.

Bladder Dysfunction

  • Almost every client needs to use catheters due to bladder dysfunction.
  • Clean Intermittent Catheterization (CIC) is used.

Clean Intermittent Catheterization (CIC)

  • Clean procedure, performed every 4 hours.
  • Men find it easier to learn than women due to anatomy.
  • Women use a mirror to identify anatomy (labia, clitoris, vaginal opening, urethral opening).
  • Risk of bladder infection.

Bowel Dysfunction

  • Virtually every client with neural tube defect has bowel dysfunction.
  • Exercise, water, fresh fruits and vegetables recommended.
  • May need laxatives.
  • Timed toilet sitting is recommended.
  • May consider using two to three enemas until everything runs clear for long trips.