OCCUPATIONAL THERAPY IN PEDIATRICS

DOWNS SYNDROME

- AARTHI A
BOT 4th YR
SRIHER
 FACTS about Downs syndrome

 It was FIRST named after a physician, “John Langdon Down” in 1862

 In 1959, Jerome lejeune was a French pediatrician and geneticist discovered that
Down’s syndrome was a genetic condition that occurs as a result of an extra
chromosome (chromosome 21)
 World Down Syndrome Day* is a global awareness event that is been observed on
21st March every year
 INTRODUCTION
 Down syndrome is a genetic condition that is caused by a chromosomal mutation
resulting in a third chromosome 21 (trisomy 21) in 95% of cases.
 It can also be caused by an unbalanced translocation of genetic material or
mosaicism, in which one cell line is typical and one displays trisomy 21.
 Down syndrome can be diagnosed through prenatal testing or shortly after birth
(American Academy of Pediatrics, 2001).

 INCIDENCE: Down syndrome occurs in 1 in 800 births in the United States and 1 in
400 births for women over 35 years of age. (National Institute of Child Health &
Human Development, 2006).
TYPES:
1. Trisomy 21 (nondisjunction)
2. Translocation
3. Mosaicism
RISK FACTORS

 Age- related risk - maternal age 35 and above

 Mothers who already have one child with downs syndrome - increased
risk for subsequent pregnancies

 Parents who are carriers of the genetic translocation for Downs syndrome
CLINICAL PRESENTATION
PHENOTYPIC FEATURES:

 Redundant nuchal skin folds

 The skull may be mildly microcephalic with a small occiputal and large fontanelles
 The eyes are almond shaped with epicanthal folds and upslanting palpebral fissures, and the
irises may demonstrate Brushfield spots
 The nose is usually short with a low nasal bridge.
 The mouth is downturned, and because the oral cavity is small, the tongue often protrudes.
 The ears may be low set with an over folded superior helix
 The hands are short and commonly have the characteristic single palmar crease.
 There is a wide gap between the first and the second toe (sandle gap).
The behavioral/cognitive phenotype of people with Down syndrome has been
described as follows:

-Mental retardation (of varying degrees)

-Deficits in grammar skills, expressive language, auditory memory, intelligible

speech

-Strengths in receptive language, visual-spatial memory, and interest in

social interactions
 Associated Abnormalities

• Congenital heart disease

Approximately 40% children have congenital heart disease. Endocardial cushion
defects account for about 40-60% cases. Presence of heart disease is the most significant factor in
determining survival. All children should have a cardiac evaluation before 9 months of age,
including echocardiography.

• Gastrointestinal malformations
Atresia are present in 12% of cases, especially duodenal atresia. There is an
increased risk of annular pancreas and Hirschsprung disease.

• Ophthalmic problems
There is an increased risk of cataract, nystagmus, squint and abnormalities of visual
acuity. Routine evaluation is performed in infancy and then yearly.

• Hearing defects
40-60% patients have conductive hearing loss and are prone to serous otitis
media. Routine evaluation before 6 months of age and then every year is advisable.
• Thyroid dysfunction
About 13-54% patients with Down syndrome have hypothyroidism. Thyroid
function tests (T3, T4 and TSH) are recommended once in the neonatal period or at first contact,
and then every year. This should ideally include anti-thyroid antibodies specially in older children.

• Physical growth
Head circumference, length, and weight are all lower in infants and children with trisomy
21 than normal, so regular follow up for height and weight is necessary

• Obesity
The prevalence of obesity is higher in individuals with trisomy 21 than in the general
population. trisomy 21 have a reduced resting metabolic rate that results in a majority of children
becoming obese by 3 to 4 years of age.
• Atlanto-axial Instability

- AAI occurs when there is excessive mobility of the joint between the atlas (C1) and
the axis (C2), may lead to cervical spine subluxation.
- Lateral neck radiographs of neutral position, flexion, and extension help to confirm
the diagnosis.
- Spinal cord compression may present as neck pain, torticollis, gait abnormalities, loss
of bowel or bladder control, and quadriparesis or quadriplegia.
- If such symptoms arise, immediate stabilization may be required.
- The other commonest orthopedic disorders of DS (flatfoot, patella instability, genu
valgum, etc.) are chiefly the consequence of ligamentous laxity.
• Malignancies
Patients with Down syndrome are at increased risk of development of lympho-
proliferative disorders, including acute lymphoblastic leukemia, acute myeloid
leukemia, myelodysplasia and transient lympho­proliferative syndrome.
• Skin Disorders
Most children with trisomy 21 have benign skin changes, which may include
palmoplantar hyperkeratosis, seborrheic dermatitis, cutis marmorata, fissured or
geographic tongue, and xerosis. Skin problems often worsen in adolescence, with half
developing folliculitis.
• Alzheimer Disease
Individuals affected by trisomy 21 have a increased risk of early-onset Alzheimer
disease compared with unaffected individuals. It has been shown that amyloid
precursor protein is encoded on chromosome 21, and overexpression of this gene
likely contributes to the 50% to 70% of people with trisomy 21 who develop dementia
by age 60 years.

• Some of these tests are:

– The Dementia Scale for Down syndrome (DSDS)
– The Test for Severe Impairment (TSI)
– The Down Syndrome Mental State Exam (DSMSE).
• Reproductive Concerns
Women with trisomy 21 are fertile and may become pregnant. Offspring may or
may not be affected by trisomy 21, depending on the type of mutation. As always,
counseling should be provided for managing menstruation and contraception.
Alternatively, nearly all men with trisomy 21 are infertile because of impairment of
spermatogenesis.
Prenatal diagnosis

They can directly get a fetal karyotype by chorionic villus sampling(CVS) or amniocentesis.

Alternatively (if the parents do not want invasive testing) an initial screening may be performed with maternal
serum markers and ultrasonography

Prenatal karyotyping can be done by chorionic villus sampling (CVS) between 10 and 12 weeks of pregnancy (by
transcervical or trans abdominal route)

The trans abdominal chorionic villus sampling and cordocentesis after 18 weeks.
 OCCUPATIONAL THERAPY

Enable the child to engage in & perform the occupations(Activities) that are important &
meaningful
Adults with Down syndrome benefit from occupational therapy in finding and retaining
productive work, learning independent living skills, and participating in active recreation for
health maintenance.

Develop a child’s independence in the areas of:

 􏰀 Self-care –toileting, dressing, hygiene, eating
 􏰀 Productivity – academic tasks at school, employment
 􏰀 Leisure – participation in recreational or social activities, hobbies
 Occupational Therapy Evaluation

TEST AGE RANGE DOMAIN TESTED

PEDI ( Pediatric Evaluation of 6mths- 7yrs School Function, Self Care and
Disability Inventory) Mobility

WeeFIM 6mths-7yrs Focus on the areas of self-care,

mobility, and cognition

SFA Grades K-6 Participation in nonacademic

school tasks
Task Supports: Five assistance
and five adaptation scales
Activity Performance: Physical
tasks and Cognitive &
behavioral task
 TEST AGE RANGE DOMAIN TESTED

Beery-Buktenica Developmental 2 to 8 years. Visual perception and motor

Test coordination tests can be used
of Visual–Motor Integration, 5th
Edition (BEERY VMI)

Sensory Profile 3 to 12 years To measure the

frequency of behaviors related to
sensory processing,
modulation, and emotional
responsivity to sensory input in
children.

Canadian Occupational This interview tool helps identify

Performance Measure (4th the family’s priorities for their
edition) child with special needs and
assists in developing therapy
goals with the child’s primary
caregivers.
TEST AGE RANGE DOMAIN TESTED

Transition Planning Inventory (TPI) Adolescent/Adult Transition Services

The Volitional Questionnaire Adolescent/Adult Occupational Needs, Interests,

Assessment (VQ) and Environmental Fit

Caregiver Activity Survey- Adolescent/Adult Caregivers of Adults with Down

Intellectual Disability (CAS-ID) Syndrome and Alzheimer’s Issues
and Needs
Problems Relevant to Occupational Therapy

- Problems in Gross and Fine motor skills

- Problems in Visual-motor and perceptual skills
- Sensory Processing problems
- Problem in ADL
- Problem in cognitive skills
- Problem in Balance and Co-ordination
- Delay in language and communication
skills
 Occupational Therapy Intervention

The three themes relate directly to evaluation and intervention:

• Child- and family-centered practice
• Comprehensive evaluation
• Effective interventions
 Principles of Client-Centered Intervention

Area of Intervention Principles

Assessment Child and family concerns and interests are assessed in a

welcoming and open interview.
The child and family’s priorities and concerns guide assessment
of the child

Team interaction The child and family are valued members of the intervention
team.
Communication among team members is child and family
friendly.
Relationships among team members are valued and nourished.

Intervention Child and parents guide intervention. Families choose the level
of participation they wish to have.
Family and child’s interests are considered in developing the
intervention strategies.
When appropriate, the intervention directly involves other family
members
(e.g., siblings, grandparents).

Lifespan approach As the child transitions to preadolescence and adolescence, he

or she becomes the primary decision maker for intervention
goals and activities.
 COMPHREHENSIVE EVALUATION

 Through comprehensive evaluation, the therapist analyzes the discrepancies

between performance, expectations for performance, and activity demands.
 By moving from assessment of participation to analysis of performance and
contexts, the therapist gains a solid understanding of the strengths, concerns,
and problems of the individuals involved (e.g., child, parent, or caregiver; family
members; teachers).
 The occupational therapist also understands how to interact with the child to
build a trusting and a positive relationship.
 EFFECTIVE INTERVENTION

Occupational therapists improve children’s performance and participation by

(1) providing interventions to enhance performance
(2) adapting activities and modifying the environment
(3) consulting, educating, and advocating.

The therapist designs and implements intervention activities with the child that:

 Optimize the child’s active engagement

 Provide a just right challenge
 Establish a therapeutic relationship
 Provide adequate and appropriate intensity and
reinforcement
Common sensory processing challenges in DS:

 Visual – dislikes bright lights, overwhelmed or distracted by too much visual information
 Auditory – reacts strongly to unexpected or loud noises, or distracted by background
noises
 Tactile – dislikes messy play or touching certain textures, or tags in clothing
 Proprioception (body awareness) – Enjoys jumping & crashing, bumping into others, enjoys
being squeezed/squished
 Vestibular (movement) – needs to move constantly, can’t sit still, rocks or fidgets in chair
 Tactile – seeks out opportunities to feel textures on hands/feet or other body parts
Core Elements of Sensory Integration Intervention

CORE ELEMENTS

Provide sensory opportunities

Provide “just right” challenges

Collaborate on activity choice and guide

self-organization

Support optimal arousal and arrange room

to engage child

Create play context

Maximize child’s success

Ensure physical safety

Foster therapeutic alliance

 SENSORY STRATEGIES – VISUAL OVER RESPONSIVE

A child who is over-responsive to visual input may process lighting

as much brighter.

• Decrease visual input and minimize visual clutter

• Use a study carrel or a folding privacy screen

• Use solid rugs

• Decrease patterns & pictures on the walls & ceiling

• Cover the room lights with a light filter or use dim light bulbs

• Provide child tinted glasses or sunglasses

• Paint room walls/ceilings cool, calm colors

 SENSORY STRATEGIES – VISUAL UNDERRESPONSIVE

Child often misses objects in competing backgrounds or finds it difficult to name or match
colors, shapes and sizes

Suggested Strategies:
 Reduce visual distractions and keep classroom clutter free and organize

 Limit the amount of visual material hanging from ceiling or walls

 Reduce clutter

 Seat the child away from doors, windows and colorful displays
 ACTIVITIES

 Shape/ Letter/ Number activities

Encourage the child to make shapes/ letters/ numbers using different materials e.g. finger paint,
clay, sand, shaving foam

 Matching Activities:
Matching the picture with the word
Puzzle activities

 Cutting activities
Cut around shapes, lines etc.

 Tracking activities
Throwing and catching, rolling and passing objects

 Spotting activities
Spotting which item has been removed from a tray of items
Finding the letters / words in a clear basin or bottle of water with cultured glitter
 Auditory: Over Responsive

 Seat the child away from auditory distractions, such as fans,

heaters, windows, doors etc.

 Allow child to move to a quiet area when doing focused work.

 Provide noise canceling head phones, ear buds or ear plugs

 Get the child's attention before talking, this can be achieved through
a physical prompt e.g. patting hand, getting class to stand up etc.

 Performing role plays or impersonating e.g. a character from history,

help reinforce information and further develop auditory skills

 Provide child with warning when there will be increased noise E.g. Fire alarm

 Warn child prior to entering a noisy environments & slowly encourage participation in such
environments
 Sensory strategies - tactile
 Touching Activities
o Rubbing different textures against the skin – Tactile bin
o Rolling over different textured surfaces
o Feely bag

 Water Play
o Pouring and measuring using different textured receptacles
o Creating patterns on the ground using wet brushes, wet sponges or squeeze bottles filled with water
o Experimenting with different temperatures, room temperature or slightly warm water, cold water and ice
o Adding objects to water to see what happens e.g. sand, glitter, stones, paper etc.

 Messy Play – Finger painting, Paper Mache

 Oral Motor Activities

o Blowing bubbles
o Drinking through straws
o Chewing nutritive substances
 Sensory strategies – vestibular

Vestibular activities in which all child should be able to participate include:

 Jumping e.g. jumping jacks, hopscotch

 Skipping
 Crawling
 Wheelbarrow walks
 Lying on stomach on a scooter board and propelling with arms (avoid backward
movements if child is very sensitive to movement)
 Balancing on one leg/hopping

If the child is not over-responsive to movement and does not have gravitational insecurity, the
following vestibular activities can be used:

 Swings and roundabouts

 Climbing frames
 Bouncing on a space hopper
 Jumping on a trampoline
 Sensory strategies - proprioceptive

Activities:

 Weight bearing activities e.g. crawling, push-ups

 Resistance activities e.g. pushing/pulling
 Heavy lifting e.g. carrying books
 Cardiovascular activities e.g. running, jumping on a trampoline
 Oral activities e.g. chewing, blowing bubbles
 Deep pressure e.g. tight hugs
GROSS MOTOR DEVELOPMENT

Foundations for gross motor development include

- Muscle Tone
- Muscle Strength
- Postural control and stability

Children with DS exhibit low muscle tone, where muscles have less tension & feel “floppy”
Children with low muscle tone often display:

• Decreased muscle strength

• Decreased activity tolerance & endurance
• Poor postural stability
Motor Learning and Skill Acquisition

 Motor learning as a model of practice focuses on helping the child achieve goal-directed
functional actions. It may initially appear to be a skill-building approach, because the
focus is on the acquisition of skills involved in movement and balance.
 That emerges from an interaction of the child with the task and the environment.
 Specific processes, such as muscle contraction patterns, stabilization and positioning of
joints, and response to gravity and other forces.
 These characteristics of a task determine motor learning strategies are used to improve
performance.
- Simple-complex
- Open loop–closed loop
- Environment changing–environment stationary
- Task characteristics
GROSS MOTOR ACTIVITIES
• Increase muscle tone
- Jumping activities
- Stomping activities
- Ballgames–catching, throwing, bouncing
• Improve strength & postural control
- Animal walks
- Wheelbarrow walking
- Scooter board activities
- Playground equipment–climbing, swings, monkey bars
- Yoga
FINE MOTOR DEVELOPMENT

• Building blocks of optimal fine motor development:

- Tactile perception
- Postural control
- Bilateral co-ordination
- Dexterity

• Difficulties with tactile perception:

- Appear clumsy and drop objects
- Increased pencil pressure
DEVELOP TACTILE PERCEPTION

Providing children with a variety of sensory experiences where they can feel and do with
their hands
Better able to anticipate, discriminate and adjust their hand and arm muscles in response
to sensory input

Activities can include:

 Hand and finger massages prior to fine motor activities

 Tactile adventure bins–sand, cornmeal, lentils
 Treasure hunt–hide small objects in playdoh
 Finger painting–paint, foam soap, shaving cream
 Kitchen time–mixing, kneading, washing dishes
Goal Activities

Strengthening PlayDoh, Silly Putty, clay

Use clothespins on rope
Hide and then find tiny pegs, beads,
marbles in Silly Putty or PlayDoh

Visual-motor/eye- hand coordination Cut shapes

Lite Brite
Beads on a String
Play Jenga
Use tweezers to pick up small objects Lacing projects

Manipulation skills Place stickers on paper

Use eye dropper to squirt colored
water on paper;
Hold coins and place one at a time into slot
Use chopsticks to pick up marshmallows
Neuromuscular Interventions for Oral Motor Impairments

Oral hypersensitivity may cause a child to retract his tongue back within the mouth to avoid
stimulation, contributing to maladaptive oral movement patterns.
Occupational therapists include oral motor activities within a comprehensive intervention plan
to promote strength and coordination for the development of functional oral feeding skills .

 Nonnutritive strengthening activities may include sustained biting or repetitive chewing on

a resistive device or flexible tubing before the introduction of food textures.

 Nutritive jaw strengthening activities may include biting or chewing on fruits or vegetables
encased in a mesh pouch or progressive resistive activities with a variety of solid or chewy
foods placed over the molar surfaces.
 ADL

TEACHING SELF CARE STRATEGIES

 Task analysis
 Backwards chaining
 Social Modeling
 Visuals and visual schedules
 Rewards and Reinforcement
 Environmental adaptions (sensory preferences)
 Adaptive Equipment
TASK ANALYSIS
• Step By Step
• Break down the task into small steps
• Determine which step the child is having trouble with and begin support there
• Use sufficient supports at first, then slowly fade to promote independence (maximal to
minimal support)

Grading
• Progressively increasing or decreasing the difficulty
• Duration or frequency of a task/activity
• TASK ANALYSIS – EXAMPLE

Putting on a jacket
 Orient the jacket
 Put right arm in
 Put left arm in
 Pull to shoulders
 Grasp zipper
 Hook zipper
 Grasp jacket
 Zip up zipper
BACKWARDS CHAINING

In backward chaining, the therapist performs most of the task, and the child performs the
last step of a sequence to receive positive reinforcement for completing the task. This
method is particularly helpful for children with a low frustration tolerance or poor self-
esteem because it gives immediate success.
• Breaking down the steps of a task - Putting on Jacket
 Orient the jacket
 Put right arm in
 Put left arm in
 Pull to shoulders
 Grasp zipper
 Hook zipper
 Grasp jacket
 Zip up zipper
Help your child perform steps 1 through 7 and then let them complete the task by
performing step 8
MODELING

• Model self care skills with family members, siblings and peers
• Practice the task analysis sequence within play
Example: Demonstrate getting dressed on a preferred toy or doll
 VISUAL SEQUENCE VISUAL SCHEDULE

•Pre-teach steps using visual sequences • Incorporate new skill into a daily routine
 REWARDS & REINFORCEMENT

Verbal praise and reinforcement are useful in motivating clients and changing
behaviors
Choose low cost activity based incentives i.e. time with a preferred toy or stickers
When child completes self care task, provide the reward immediately
Knowledge of correct performance motivates a child to continue practicing, so such
reinforcement may be used frequently.
Positive feedback with specific cues improves performance such as “you pressed firmly
with the pencil!”

NOTE: Rewards will eventually be faded out as child masters the self-care skill
 ADAPTIONS AND EQUIPMENT
Clothing
• Recognize sensory preferences
• Choose loose, comfortable and preferred fabrics
• Pull over shirts to begin instead of button ups
• Elastic waist bands instead of button/zip pants
• Jackets with contrasting colors inside/outside

Shoe Laces:
• Slip on or Velcro shoes
• Lock or Snap laces
• Memory Ties
• Two different colored laces
ADAPTIVE EQUIPMENT FOR TOILETING
Supported Employment and Community Living for 18 Years and Older

• Possible Client Challenges

- Limited independent living skills
- Aggressive or agitation behaviors, potentially due to exposure to negative life events,
such as the constant shift in staff or location of group homes, relationship difficulties, or illness
• Possible Interventions
- Environmental adaptation for just-right fit
- Cognitive, problem solving, and social skill training
- ADL training
- Adaptive equipment
- Sensory and occupation-based aggressive behavior Management
- Self-advocacy and effective communication training
• Characteristics of Effective Intervention
- Foster the client’s feelings of being respected
- Promote the client’s autonomy and choice
- Maximize the client’s competence and productivity
-Use concrete, simple, repetitive, and multisensory teaching approac hes
 CASE STUDY

Jeremiah, a 15-year-old youth with Down syndrome, is living at home with his parents. His two
older siblings have left home to work and attend college. Psychological test scores classify
Jeremiah as mildly mentally retarded under the guide- lines of the DSM IV-TR. Before high
school, Jeremiah had participated in mainstream school activities, with some accommodations
within the classroom. He has good social skills and enjoys being with others. However, as the
cognitive abilities required to achieve academically in high school have increased, the gap
between his functioning and that of his peers has widened. He now spends most of his day in
an alternative class that has a vocational emphasis. Jeremiah’s recent individual educational
program (IEP) prioritized goals to facilitate his transition from high school to the community.
His goals are to live in a group home and have a job

 The Individuals with Disabilities Education Act (IDEA) of 1997 - Individualized transition
plan (ITP) - transition from an educational setting to a community and a work environment.
 GOAL: To achieve semi-independence and a personal sense of autonomy,
understand and accept his physical changes, form and maintain friendships, and
achieve independence in his community

 Based on the findings of his functional evaluation and specific assessments of

client factors, realistic goal setting and intervention planning can be determined.

 Hence, the skilled practitioner develops expectations specific to the adolescent

that include just the “right” challenge to meet his goals and to promote his
successes.
 In Jeremiah’s case, recognizing that his cognitive assessment scores indicate that
he processes information at a pre-formal (i.e., concrete) operational level, the
practitioner might use a cognitive disability approach to formulate an
intervention plan.

 The practitioner may use a direct, skill-teaching approach to ensure that

Jeremiah acquires his ADL, IADL, work, and social participation performance
skills. E.g.. It would be a visual list to provide the sequence of activities to ensure
safety in the kitchen or to improve accessibility.

 An occupational therapy practitioner selects evidence-based interventions to

help students like Jeremiah acquire the life and social skills they need to live and
work in the community with support.
REFERENCE
- Willard and Spacksman’s Occupational Therapy 11 th Edition
- Case-Smith O’ Brien Occupational Therapy for Children 6 thEdition
- Netter’s Pediatrics Todd A. Florin and Stephen Ludwig
- GHAI Essential Pediatrics 8th Edition

- THANK YOU