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OT IN PEDIA
OT for Children with Down Syndrome
| Term | Definition 1 | Definition 2 |
|---|---|---|
| DOWN SYNDROME | ● “An anomaly of chromosome 21 that can cause intellectual disability, microcephaly, short stature and characteristic facies.” | |
| DOWN SYNDROME TYPES: | - Trisomy 21 - Mosaicism - Translocation | |
| Trisomy 21 | ● Most common type ● Error in cell division (nondisjunction) ● Happens during the formation of egg/sperm | ● One of the pairs of Chromosome 21 does not separate, leading to an extra copy of Chromosome 21 ● All cells have an extra chromosome 21, instead of the normal two (XX). |
| Mosaicism | ● Rarest type of DS ● Not all cells have an extra chromosome 21; some cells have 46 chromosomes, while others have 47 ● This happens in error in cell division ○ Difference in timing ● Mildest presentation of DS | |
| Translocation | ● Second most common type ● Instead of separating, chromosome 21 attaches to another chromosome, often chromosome 14 (though it can attach to others) | ● There’s an extra copy of chromosome 21 due to the translocation ● Features are similar to Trisomy 21 but may vary depending on the extent of translocation |
| DOWN SYNDROME DIAGNOSIS | ● Detected during fetal ultrasonography, typically through nuchal translucency screening, which looks for fluid at the back of the baby’s neck (an indicator of potential chromosomal abnormalities like Down syndrome). | |
| Non-invasive prenatal testing (NIPT) | ● Tenth week of pregnancy ● Blood test that checks for high risks of chromosomal abnormalities like DS ● Can be repeated to confirm results and has a high accuracy rate ● It screens for trisomy 21, 18, and 13 with a very low false positive rate | |
| Maternal serum screening | ● Type of NIPT ● Not a definitive test; it only screens for potential chromosomal abnormalities ● Involves blood sample from the mother, testing for markers such as PAPP-A (pregnancy-associated plasma protein) and free beta-hCG | ● Can be done during the first trimester (combined with nuchal translucency) or the second trimester (quadruple screen) ● False positives can occur, which is why it’s followed by more definitive tests |
| Prenatal chorionic villus sampling (CVS) | ● Invasive Test ● Definitive diagnostic test for chromosomal abnormalities ● Performed between 10-13 weeks of pregnancy, it takes a sample of placental tissue (either through the cervix or abdomen) | ● More accurate than NIPT and maternal serum screening ● Carries a small risk of miscarriage, around 1 in 100 |
| Amniocentesis with karyotyping | ● Diagnostic test ● Performed during the 15-20 week window | ● A thin needle is inserted into the mother’s uterus to collect amniotic fluid, and fetal cells are analyzed for chromosome count ● Provides an accurate diagnosis, though carries a slight risk of miscarriage, around 1 in 200-300 |
| Postnatal karyotyping | ● Done in newborns ● If there are any clinical features suggesting Down syndrome (e.g., physical characteristics such as a flat face, slanted eyes, or small ears), postnatal karyotyping is done to confirm the diagnosis | ● Can help determine the exact chromosomal makeup (Trisomy 21, Mosaicism, or Translocation). ● During the interview, ask the parent if they underwent non invasive/ invasive procedures of chromosomal screening and ask for the results |
| PHYSICAL FEATURE: - Flattened occiput | see pic | |
| PHYSICAL FEATURE: - Microcephaly | abnormally small head | |
| PHYSICAL FEATURE: - Short neck, with extra skin (nuchal fold) around the back of the neck | see pic | |
| PHYSICAL FEATURE: - Upward slanting eyes | see pic | |
| PHYSICAL FEATURE: - Presence of epicanthal folds | see pic | |
| PHYSICAL FEATURE: - Open mouth with big protruding tongue that may lack a central fissure | see pic | |
| PHYSICAL FEATURE: - Low set and rounded ears | see pic | |
| PHYSICAL FEATURE: - Shortened extremities, broad hands, with a single transverse palmar crease (simian crease) | see pic | |
| PHYSICAL FEATURE: - Atypical fingerprints; fingers are short; clinodactyly of 5th digit | see pic | |
| PHYSICAL FEATURE: - Flattened nose | see pic | |
| PHYSICAL FEATURE: - Stunted growth Flexible ligaments Smaller genitalia | --- | |
| PHYSICAL FEATURE: - Feet: may have a wide gap between 1st and 2nd toe | see pic | |
| DS ASSOCIATED PROBLEMS | ● Cognitive impairments (Intellectual Disability) ● Developmental delays (motor and language delays) ● Congenital defects ● Gastrointestinal anomalies ● Endocrinopathies | ● Bony anomalies ● Neuromuscular function ● Eye and hearing problems ● Hormonal Problems ● Blood Disorders ● Small percentage of the population has ASD (rare) |
| Cognitive impairments (Intellectual Disability) | ○ Comorbid intellectual disability ○ IQ level test - school-age/preteen to know cognitive level and align expectations, especially in transitioning | |
| Developmental delays (motor and language delays) | ○ Motor and language delays are common ○ Physical therapy and speech therapy are essential in helping with these delays | |
| Congenital defects | ○ Congenital Heart Disease | |
| Gastrointestinal anomalies | ○ e.g., Duodenal atresia, Hirschsprung’s disease, and imperforate anus. | |
| Endocrinopathies | ○ e.g., Hypothyroidism, which is more prevalent in those with DS | |
| Bony anomalies | ○ e.g., Abnormal bone growth and sometimes joint instability (e.g., atlantoaxial instability, which can affect the spine and require monitoring) | |
| Neuromuscular function | ○ Muscle hypotonia (low muscle tone) is common and contributes to delayed physical development and motor skills | |
| Eye and hearing problems | ○ Most individuals will need corrective lenses due to refractive errors, and there is a higher incidence of strabismus (crossed eyes) and cataracts | |
| Hormonal Problems | ○ Children and adults with Down syndrome tend to have a slower metabolism, contributing to a higher risk of obesity | |
| Blood Disorders | ○ Children with Down syndrome have a higher risk of leukemia (especially acute lymphoblastic leukemia), though this is still relatively rare | |
| Small percentage of the population has ASD (rare) | ○ While Down syndrome itself often presents with social and developmental delays, those with ASD may show more specific difficulties in communication and social interaction | |
| DS MEDICAL MANAGEMENT | ● Depends on specific manifestations and anomalies ● Surgery ● Hormone therapy ● Use of devices | |
| OTFOR DOWN SYNDROME | ● Guide children with DS and their families to reach their potential | |
| Infancy | ■ Focus on motor skills | |
| Early Childhood | ■ Focus on mastery of skills in school age | |
| School Age | ■ Focus on self-care and education ■ Play and educational participation | |
| DS SUBJECTIVE FINDINGS History | ○ Maternal/paternal age ■ There’s a high risk of DS if parents are of older age during pregnancy ○ Hereditary | |
| DS SUBJECTIVE FINDINGS Medical and Rehabilitation Management Received | ○ PT, OT, SLP therapies ○ Hospitalizations ○ Thyroid Problems ○ Hearing and visual impairments and procedures ○ Eyeglasses prescription | |
| DS SUBJECTIVE FINDINGS Relevant contexts: | ○ School ○ Home ○ Environment | |
| DS SUBJECTIVE FINDINGS Other problems/conditions | ○ Hypotonia | |
| DS OBJECTIVE FINDINGS | ● Analysis of client factors and performance skills | |
| Neuromuscular Functions | ● Muscle tone ● Muscle strength ● Balance and coordination ● Joint laxity, structural deformities ● Reflexes | |
| Gross Motor Skills | ● Head, trunk, and pelvic control ● Transitions and mobility patterns ● AGMS ● Occupations affected ● Have sensory issues d/t gravitational insecurity | |
| Fine Motor Skills | ● Coloring skills ● Scissoring skills ● Pre-writing and handwriting skills ● Legibility components ● Occupations affected | ● Not included ○ GPP FPP ○ Hand and pinch strength ○ In hand manipulation |
| Communication Skills | ● Verbal and non-verbal communication ● Pre-linguistic and linguistic speech articulation ● Eye-contact ● “How does the child indicate needs?” ● Communication and feeding problems | |
| Sensory Processing Skills | ● All systems ● Include sensory processing dysfunction ○ (presence of self-stimulatory behaviors “stimming” and self-injurious behaviors) | |
| Sensory Perceptual Skills | ● Visual perceptual skills (visual receptive and cognitive skills) ● Other perceptual skills (stereognosis, body scheme, R/L discrimination) | |
| Performance Skills - Motor Skills | ○ Involves movement and interaction with objects/environment. ○ Includes: ■ Posture ■ Mobility ■ Coordination ■ Strength ■ Effort ■ Energy | |
| Performance Skills - Process Skills | ○ Involves the completion of daily tasks. ○ Includes: ■ Energy ■ Knowledge ■ Temporal organization ■ Organizing space and objects ■ Adaptation ○ Examples: ■ Maintaining attention to a task ■ Choosing appropriate tools and materials | |
| Performance Skills - Communication and Interaction Skills | ○ Involves interacting with others. ○ Includes: ■ Physicality ■ Information exchange ■ Relations ○ Examples: ■ Gesturing to indicate attention ■ Expressing affect ■ Relating to others to establish rapport | |
| Specific Mental Functions ● Higher level cognitive | Judgment, concept formation, metacognition, executive functions, praxis, cognitive flexibility, insight | |
| Specific Mental Functions ● Attention | Sustained shifting and divided attention, concentration, distractible | |
| Specific Mental Functions ● Memory | Short-term, long-term, and working | |
| Specific Mental Functions ● Perception | Discrimination of sensations (e.g., auditory, tac tile, visual, olfactory, gustatory, vestibular, proprioceptive) | |
| Specific Mental Functions ● Thought | Control and content of thought, awareness of reality vs. delusions, logical and coherent thought | |
| Specific Mental Functions ● Mental functions of sequencing complex movement | Mental functions that regulate the speed, response, quality, and time of motor production, such as restlessness, toe tapping, or hand write in in response to inner tension | |
| Specific Mental Functions ● Emotional | Regulation and range of emotions; appropriateness of emotions, including anger, love, tension, and anxiety; lability of emotions | |
| Specific Mental Functions ● Experience of self and time | Awareness of one's identity (including gender identity), body, and position in the reality of one's environment and of time | |
| Global Mental Functions ● Consciousness | State of awareness and alertness including the clarity and continuity of the wakeful state | |
| Global Mental Functions ● Orientation | Orientation to person, place time self and others | |
| Global Mental Functions ● Psychosocial | General mental functions, as they develop over the life span, required to understand and constructively integrate the mental functions that lead to the formation of the personal and interpersonal skills needed to establish reciprocal social interactions | |
| Global Mental Functions ●Temperament and personality | Ex1roversion, introversion, agreeableness, conscientiousness, emotional stability, openness to experience, self-control self- • expression, confidence, motivation, impulse control, appetite | |
| Global Mental Functions ● Energy | Energy level, motivation, appetite, craving, impulse | |
| Global Mental Functions ● Sleep | Physiological process, quality of sleep | |
| Executive Function ● Response inhibition | The capacity to think before you act; Control of impulses | |
| Executive Function ● Working memory | The ability to hold information in memory while performing complex tasks; manipulation of information | |
| Executive Function ● Emotional control | The ability to manage emotions to achieve goals, complete tasks, or control and direct behavior. | |
| Executive Function ● Sustained attention | The capacity to keep paying attention to a situation or task in spite of distractibility, fatigue, or boredom; Attention span Solving for AS: Age x 2 or 3 = Attention span | |
| Executive Function ● Task initiation | The ability to begin projects without undue procrastination, in an efficient or timely fashion | |
| Executive Function ● Planning/prioritization | The ability to create a roadmap to reach a goal or to complete a task. | |
| Executive Function ● Organization | The ability to create and maintain systems to keep track of information or materials. | |
| Executive Function ● Time management | The capacity to estimate how much time one has, how to allocate it, and how to stay within time limits and deadlines. | |
| Executive Function ● Goal-directed persistence | The capacity to have a goal, follow through to the completion of the goal, and not be put off by or distracted by competing interests | |
| Executive Function ● Flexibility | The ability to revise plans in the face of obstacles, setbacks, new information, or mistakes; Ability to change plans, accept changes, mistakes and do necessary adjustments | |
| Executive Function ● Metacognition | The ability to stand back and take a bird’s eye-view of yourself in a situation, to observe how you problem solve; Ability to reflect on own decisions and actions and analyze situation and adjust as needed | |
| ADLs | ● Feeding, eating, dressing, grooming and hygiene, etc. ○ Common problem is brushing teeth ● Routines ● Tool use ● Oral motor feeding problems | |
| Social Participation | ● Parten’s developmental stages of play ● Understanding social situations ● Interacting with adults and peers ● Friendships in school | |
| Play Participation | ● Takata's play epochs, Piaget's stages of cognitive development ● Play skills, Play levels, Types of Toys ● Siblings/relatives of the same age | |
| Education Participation | ● Type of school, curriculum ● School environment and schedule ● IEP team ● Participation in sports and extracurricular activities | |
| INTERVENTION ● Client factors and performance skills | ○ Strengthening ○ Improvement of tone ○ Improvement of head, trunk, and pelvic control ○ Improvement of mobility patterns and transitions ○ Improvement of GMS and FMS | |
| INTERVENTION ● Areas of occupation | ○ Modification and adaptation of tasks ○ Recommendation of devices and equipment ○ Use of BMTs to facilitate performance ○ Direct skill teaching/ utilization of teaching/learning strategies ○ Environmental assessment and modification | ○ ADL and IADL Training and use of devices ○ Social skills training and Group Classes ○ School Readiness and Transition ○ Making of IEP ○ Prevocational and vocational skills training ○ Caregiver/Parent/Teacher Education |
Created by:
avemaria