DOWN SYNDROME

o Smoking, alcoholism, exposure to harmful substances

BASIC SCIENCES o Low SES status

CHROMOSOMES PATHOPHYSIOLOGY
 Structures present in every cell of the body containing genetic  Decreased brain weight and reduced volume in frontal and
material. temporal lobes
 There are 46 chromosomes in a person, organized into 23 pairs o Shrinkage starts 4-5 month old fetuses
o During the process of mitosis, issues can occur which will  Lack of myelination or delay in completion of myelination
lead to chromosomal abnormalities between 2 months and 6 years of age w/c may explain delays
 Extra copies of chromosome 21 can cause the characteristic  Locus of hypotonia is the cerebellum
features of Down syndrome and increased risk of health  Underdeveloped facial bones, muscles and small notes leads to
problems associated with this condition flat contour
o Common associated health problem: Cardiovascular
defects, vision problems and GI issues SIGNS AND SYMPTOMS
DYSMORPHIC FEATURES
BRAIN  Hypotonia
 There is reduced brain volumes in the frontal lobe, temporal  Joint laxity, hyperflexibility
lobe, cerebellum and pons
 Flattened nasal bridge
o Pons – key merging point for 4 cranial nerves ( CN V, VI,
 Upslanting eyes
VII, VIII)
 Epicanthal folds at the inner corners of the eyes
o Cerebellum – coordinating voluntary movements and motor
 Redundant nuchal folds
skills, language/speech, cognitive functions and vision
 Brushfield spots
o Frontal Lobe – voluntary movement, expressive language,
 Single transverse palmar crease (Simian Fold)
executive functions
 Gap between 1st and 2nd toes (Sandal gap)
o Temporal lobe – managing emotions, processing
 Short stature and extremities
information, production of speech, recognition of language,
memory storage and recall  Frontal balding
 There is smaller total brain volume, gray matter and white  Thin Hair
matter  Low-set and rounded ears
 Results in developmental delays  Brachycephaly/microcephaly
 Protruding tongue lacking a central fissure
MEDICAL-SURGICAL FOUNDATION  Short neck with extra skin (nuchal fold)
 Atypical fingers (clinodactyly of 5th digit)
DEFINITION  Flexible ligaments
 Chromosomal abnormality wherein there is an extra copy of  Smaller ligaments
chromosome 21.
 Most prevalent chromosomal genetic syndrome NEUROMUSCULAR & MUSCULOSKELETAL FUNCTIONS
 Hallmark:  Hypotonic
o Distinctive physical characteristics  Muscle weakness
o Hypotonicity (Low tone)  Imbalance and incoordination
o Congenital abnormalities  Joint laxity and structural deformities
o Associated health issues
ASSOCIATED WITH OTHER COMPLICATIONS
EPIDEMIOLOGY  Vision problems
 Most prevalent chromosomal genetic syndrome  Hearing problems
 1 in every 800 babies in the Philippines  Gastrointestinal anomalies
 1 in 1,000 individuals (worldwide) o Most common duodenal atresia
 Congenital heart defects
ETIOLOGY o Most common atrioventricular septal defect = 37%
 Not yet confirmed but this may due to problems during the cell  Cognitive impairments
division of the egg or sperm cell  Developmental delays
 Associated with maternal side o Gross motor skills (e.g: AGMS, Transition/mobility
o Advanced maternal age - > 35 y/o could lead to maternal patterns, Head, Trunk and Pelvic control
nondisjunction errors during Meiosis I
o Insufficient vitamin intake during pregnancy
 o Fine motor skills (e.g: RGCR, GPP, FPP, Bilateral  Redundant nuchal folds
coordination, in-hand manipulation skills, coloring skills,  Brushfield spots
scissoring skills, pre-writing and handwriting skills)  Single transverse palmar crease (Simian Fold)
o Communication skills  Gap between 1st and 2nd toes (Sandal gap)
o Cognitive skills  Short stature and extremities
o Social & communication skills  Frontal balding
o Self-care skills  Thin Hair
 Intellectual disability  Low-set and rounded ears
o Universal feature of Down Syndrome  Brachycephaly/microcephaly
 Congenital defects  Protruding tongue lacking a central fissure
 Endocrinopathies  Short neck with extra skin (nuchal fold)
o Hypothyroidism and DM Type 1  Atypical fingers (clinodactyly of 5th digit)
 Bony anomalies  Flexible ligaments
o Atlanto-occipital or atlanto-axial instability is very  Smaller ligaments
common thus, some physical activities have to be done  Low muscle tone
with caution
 Respiratory disease DIAGNOSTIC TESTS
 Pulmonary and hematologic disorders  Diagnosis is based on karyotyping
 Arthropathy
 Immunodeficiency TEST DESCRIPTION
 Skin disorders  Ultrasound
 Reproduction and urologic abnormalities  Visualizes and assesses the
 Alzheimer’s disease developing fetus in the womb
o Develops by 6th decade of life during pregnancy.
 Utilizes high-frequency sound
RISK FACTORS waves
 Increased maternal age (>35 years old)  Increased nuchal translucency
 Previously given birth to a child with Down Syndrome Fetal ultrasonography
seen on neck area
 Carriers of genetic translocation for Down Syndrome  Done at 26-28 weeks of
gestation, anomalies can be
CLASSIFICATION detected:
o Duodenal atresia
o Atrioventricular canal
defect
 Blood test that could detect
chromosomal condition/s or
neural tube defects
Maternal serum  Done 15-21 weeks gestation
NON-DISJUNCTION screening  Heightened levels of certain
 Results in an embryo with 3 copies of chromosome 21 chemicals (↑Beta-hCG, Inhibin
A, ↓PAPPA-A, AFP,
MOSAICISM Unconjugated estriol)
 Occurs when a mixture of 2 types of cells is identified where  Assess the likelihood of a fetus
some carry the typical 46 chromosomes and some possess 47. being born with specific genetic
 Least prevalent type of the condition abnormalities
Non-invasive prenatal
 Involves examination of small
testing
TRANSLOCATION segments of DNA in
bloodstream of pregnant
 Overall number of chromosomes in the cells remain 45 in
women
translocation however, an additional full or partial
chromosome 21 attaches to another chromosome (typically  Done during 10-13 weeks
Prenatal chorionic
chromosome 14)  Obtains a placental tissue for
villus sampling
genetic testing
DIAGNOSTIC CRITERIA Amniocentesis with  Samples of the baby’s cells are
PHYSICAL CHARACTERISTICS karyotyping obtained by extracting a small
 Flattened nasal bridge quantity of amniotic fluid.
 Upslanting eyes  Results can reveal the presence
 Epicanthal folds at the inner corners of the eyes of certain genetic issues
 detected by CVS testing OT EVALUATION
 Clinical observations
DIFFERENTIAL DIAGNOSIS  Interviews with child and family
EDWARDS SYNDROME (TRISONOMY 18)  Assessment tools
 Presence of an extra copy of the 18th chromosome in all or
some cells STANDARDIZED TESTS
 Characterized by multiple severe intrauterine growth
abnormalities, LBW, micrognathia, microcephaly, prominent PEABODY DEVELOPMENTAL MOTOR SCALES
occiput, short sternum, syndactyl, intellectual disability, PURPOSE
malformed kidneys, heart defects  Used to measure the motor development and motor skills of
 Difference: children from birth to 5 years
o Most infants die in the first year of life  Assess gross and fine motor skills to provide a comprehensive
profile of their motor abilities.
PATAU SYNDROME (TRISONOMY 13) 
 Presence of an extra copy of 13th chromosome in all or some ADMINISTRATION / PROCEDURE
cells  20-30 minutes for each motor-related subtest / 45-60 minutes for
 Around half of babies with Patau’s syndrome will also have a entire assessment
cleft lip and palate.  6 subtests
 Display significantly impaired cognitive function in 2 or more o Gross Motor
adaptive behaviors and have defects involving the midface, eye  Reflexes
and forebrain including microcephaly, microphthalmia, and  Stationary
other lesions such as polydactyl, rocker bottom feet, cystic  Locomotion
kidneys, and congenital heart defects.  Object manipulation
 Difference: o Fine Motor
o Majority of trisomy 13 patients die in utero, with fewer  Grasping
than 5% of affected patients living beyond the first year of  Visual-motor integration
life. SCORING
 Sum of the points of each subscale / item
CONGENITAL HYPOTHYROIDISM
 3-point rating scale (2, 1, 0)
 Thyroid hormone deficiency present at birth
 Begin at appropriate age of child
 Similar signs:
o Basal level – receives a score of 2 on three consecutive
o Hypotonia
items
o poor growth o Ceiling level – receives scores 0 on three consecutive items
o simian crease (stops here)
o seizures
o sandal gap SIGNIFICANCE & IMPLICATION
o protruding tongue To quickly identify motor developmental delays or difficulties and
 Difference: helps training or remediation of gross and fine motor skills in the
o No single palmar crease, epicanthal folds, flat occiput and intervention plan
face, abundant neck skin
 Karyotype examination: 46 XX or 46 XY PEDIATRIC EVALUATION OF DISABILITY (PEDI)
 Hypothyroidism is the most common endocrine problem in PURPOSE
children with Down syndrome.
 Assesses functional skills, level of independence and extent of
modifications required to perform functional activities in young
CONGENITAL MUSCULAR DYSTROPHY
children.
 Characterized by the onset of muscle weakness before the age of
 Provides a comprehensive picture of child’s abilities and
one
limitations in performing various age-appropriate activities
 Similar signs:
 Domains:
o Appears floppy when held due to hypotonia, limited
o Self-care
spontaneous movements
o Mobility
o Difficulties in achieving developmental milestones
o Social function
o Potential eye defects or seizers
 Age: O-7 years old
 Difference:
o Doesn’t present classical physical features like redundant
ADMINISTRATION / PROCEDURE
nuchal folds, flat face, epicanthic eye folds, protruding
 Paper-based assessment, administered via parent/caregiver
tongue
report, structured interview, observation
o Genetic disorder
 31-60 minutes
 AREAS OF OCCUPATION EVALUATED
SCORING ADLs / IADLs
 4-point likert scale (0,1,2,3)  May be dependent due to difficulties with motor skills or
 Scores are distributed from 0-100 cognitive/executive function skills
o Higher scores = greater functionality  Cannot express needs
 Raw scores converted to standard scores basing on age and  Feeding/Eating challenges due to hypotonicty
gender
EDUCATION
SIGNIFICANCE & IMPLICATION  Grade Level Expectations/Type of school/Curriculum/Academic
 Provides valuable insights into child’s strengths and challenges Performance/
base on their functional skills  Handwriting/Coloring/Scissoring
 Work behaviors
CANADIAN OCCUPATIONAL PERFORMANCE MEASURE  Cognitive skills
PURPOSE
PLAY
 Assist individuals to identify, prioritize and assess their self-
perceived occupational performance and satisfaction with  Piaget’s Stages of Play
activities and tasks.  Parten ‘s Level of Social Play
 Focuses on client’s perspective and priorities to set meaningful
and personalized goals SOCIAL PARTICIPATION
 Family participation
ADMINISTRATION / PROCEDURE  Peer participation
 Ask client/caregiver to give at least 5 meaningful activities/tasks  Friendships
 For each activity/task, ask to rate their performance and
satisfaction from 1-10 AREAS OF OCCUPATION EVALUATED
 After all tasks are mentioned, ask to arrange according to NAME OF TEST
priority  ..

SIGNIFICANCE & IMPLICATION COMMON AFFECTED PERFORMANCE SKILLS

 Based on the ratings given, we can use these as baseline  Motor Skills
measurements and create a more personalized intervention to o Posture
address the specific needs and goals of the client. o Mobility
o Coordination
FIM / WEE-FIM o Strength and effort
PURPOSE o Energy
 Assesses an individual’s functional independence and ability to  Communication and interaction skills
perform ADLs o Physicality
 Assess and document patient’s level of independence  Gestures
 Postures
ADMINISTRATION / PROCEDURE o Information exchange
 18-item 7-point ordinal scale  Articulates
 Speaks
 Observe then grade
 Sustains
COMMON AFFECTED CLIENT FACTORS
SCORING
 Global mental functions
 7-point ordinal scale
 Specific mental functions
 Higher score = more independent
o Cognitive skills & Executive functions
 Sensory functions (hearing, vision, and touch functions)
SIGNIFICANCE & IMPLICATION
 Muscle functions
 Identify the level of assistance of the patient and use it as a basis
o Neuromuscular functions (muscle tone, strength, balance
in the intervention plan
and coordination, joint laxity, reflexes)
NON-STANDARDIZED TESTS  Movement functions
o GMS
 Functional Observation / Dynamic Performance Analysis:
o Play skills (Social Play and Play Level)  Head, trunk pelvic control
 Transitions and mobility patterns
o Cognitive Skills
o FMS
o ADLs
 RGCR
o Work Behaviors
 GPP, FPP
  Coordination
 In-hand manipulation
 Cardiovascular system function
 Digestive system functions
 Work Behaviors

OT INTERVENTION

FRAME OF REFERENCE / APPROACH / MODEL

NEURODEVELOPMENTAL FRAME OF REFERENCE


ACQUISITIONAL FRAME OF REFERENCE

USUAL INTERVENTION STRATEGIES

 BMTs
 LFTs
 Preparatory
o Facilitation techniques – oral faciliation
o Action songs – pelvic and trunk control
o Animal walks
o Oral Faciliation techniques
 Blowing bubbles
 Making silly facaces
 Quick strecthing
 ADLs
o Transition patterns
o Motor relearning
o Lollipop/Fruit Kabobs
 Fine motor
o Clay activities
o Clothespin