DOWN SYNDROME

GENERAL INFORMATION
• Pt’s name: J.R.
• Age: 5 y/o and 3 months
• Sex: M
• Address: San Fernando City, La Union
• Civil Status: Single
• Citizenship: Filipino
• Handedness: Right
• Occupation: Special Education Student
• Religion: Roman Catholic
• Referral MD: N/A
• Referring unit: Walk-In
• Rehab MD: Dr. M
• Date of Consultation: June 10, 2020
• Date of Referral:N/A
• Date of Initial Evaluation: June 10, 2020
• Diagnosis: Down Syndrome
SUBJECTIVE
• Informant: Mother
• Reliability: Fair (Educational Attainment: College Graduate; Primary
guardian of the px)

• c/c:
• Px Verbatim:
“Di niya kayang umupo nag walang sandal at madalas siyang natutumba
kapag naglalakad mag-isa; Di rin niya kayang maghawak ng mga bagay; kaya
lagi ko siyang inaalalayan.”
• PT Translation:
“Px c/o difficulty in indep sitting unsupported, indep amb, and in gripping
objects; requires +1 min assist.”
HPI:
• Onset of px’s present condition started ~ 3 yrs ago PTIE, when informant
noticed that the px had difficulty in maintaining balance when sitted
unsupported and amb indep; px leans on furnitures or nearby objects; had
also an incident of frequent falls (3x in 1 month); No significant trauma
occurred besides from superficial bruises. Px is unable to cope up in school
(non-specialized), had a problem c gripping objects such as a pencil and had
noticeably difficulty in articulation; informant recalled of discussing these
matters c the px’s instructors which prompted her to consult Dr. J. (Pediatric
MD) of Lorma Medical Center; px was suspected c Down Syndrome based on
px’s hx and manifestations; had underwent chromosomal karyotyping (See
Ancillary Procedures) for confirmation; was referred to Dr. M. (Rehab MD)
for further evaluation and PTIx. Dr. M. recommended the px to attend PT
sessions at least 1x/wk for developmental training; Informant recalled of
denying px’s dx; px didn’t attend any PTIx.
• ~ 1 yr ago PTIE, px transferred to a special
education program d/t difficulty in
communicating and socializing; informant was
also concerned of px’s safety since he is
maximally dep on all ADLs (e.g. self grooming,
eating and dressing) and had poor balance in
amb and during sitted unsupported. Px still
didn’t attend any PTIx.
• Presently, Informant decided to consult Dr. M.
d/t px’s persistent difficulty in sitting
unsupported, gripping objects (e.g. pencils)
and in indep amb; px is worried about her son
not being able to perform activities that are
supposedly normal for his age (5 y.o. and 3
months). Dr M recommended them to attend
PTIx and developmental training for at least
1x/wk for 10 sessions.
 Ancillary Procedures:
Procedure Date / Place MD Result

Chromoso Exact date Dr. J. (Pedia Extra

mal unrecalled / MD) chromosome
karyotype Lorma Medical 21
Center
Medications

Medicines Dosage/Frequency Indication

Vitamin 10 mL/ tid Maintenance of

Complex overall health
Supplements
Maternal Hx
Obstetric Score:
• Full term: 1
• Premature: 0
• Abortion: 0
• Living: 1
• Gravida: 1
• Parity: 1
(+) Low CVS during first trimester
(-) Smoker
(-) Alcoholic drinker
(-) Drug abuser
 Birth Hx:
• Age of Gestation: 22 y/o
• Nature of Delivery: Natural Spontaneous
Vaginal Delivery
• Manner of Presentation: Cephalic
  
Prenatal Hx:
• (+) Gestational DM (Controlled)
• (-) Trauma
• (-) Infection
 Perinatal Hx:
• Apgar Score: 8 in 10 mins
• Sig. Normal
• Hours of Labor: 18 hours
• (-) Trauma
• (-) Infection
• (-) Delivery complications
 Postnatal history
• (-) Trauma
• (-) Infection
 Nutritional History
• Breastfeeding: Birth up to 3 yrs old
• Semisolid: 3 y.o. and 3 months
• Solid Food: 4 y.o. and 5 months
DEVELOPMENTAL MILESTONES
  N Age Achieved Developmental Age
Gross Motor    

In prone, turns head to one side Newborn 2 month

Head held when pulled to sit 4 months 8 months

Rolls to prone 7 months 10 months
Creeps on all fours 10 months 15 months
(1 y/o and 3 mos)
Walks alone, arms in high guard or 14 months Not yet achieved
midguard
Walks alone, arms at low guard 18 months Not yet achieved
Begins running 2 years Not yet achieved
Pedal tricycle 3 years Not yet achieved
     
Fine Motor N Age Achieved Developmental Age
Grasps toy 3 months 3 y.o.
Reaches with one hand 6 months 3 y.o.
Can point 9 months 3 y.o.
Puts objects in container 1 year Not yet achieved
Throws ball 1 ½ year Not yet achieved
Turns a door knob 2 years Not yet achieved
Holds crayon with fingers 3 years Not yet achieved
 Language    
Coos 3 months 6 months
Babbles 6 months 1 y.o.
Understands “no” 9 months 1 y.o.
Responds to name 1 year 1 y.o.
Follows simple instructions 1 ½ year 3 y.o.
Body parts 2 years 5 y.o.
First and last name 3 years 5 y.o.
Social    
Smiles at face 3 months 7 months
Recognizes family members 6 months 7 months
Plays peek-a-boo 9 months 9 months
Waves bye-bye 1 year 1 year
Takes off simple clothes 1 ½ year Not yet achieved
Can put on some clothes 2 years Not yet achieved
Dresses 3 years Not yet achieved
Cognitive 5-6 years Not yet achieved
Is very interested in music and
personal appearance
   Chronological Developmental Age Delayed
Age Age

Gross Motor 5 years and 3 1 yr and 3 mos. 4 years

mos

Fine Motor 5 years and 3 3 y.o. 2 years and 3

mos mos.

Language 5 years and 3 5 y.o. 3 mos.

mos

Social 5 years and 3 1 y.o. 4 years and 3

mos mos.

Cognitive 5 years and 3 6 years N/A

mos
 PMHx:
• (+) Fall (Most recent was last month: 2x)
• (+) Hospitalization
– @ LUMC d/t Bronchopneumonia on 2014 for ~ 2 wks
– @ LUMC d/t Fever in 2016 for ~ 3 days
• (+) Food Allergies (Seafoods)
• (-) Trauma
• (-) Asthma
• (-) Cancer
• (-) GIT dse
• (-) Seizures
• (-) Heart Dse
 FMHx:
  Father Mother

Asthma (-) (-)

Genetic d/o (-) (-)

Pneumonia (-) (-)

Heart Disease (-) (-)

Seizure (-) (-)

PSEHx:
• Px has good social skills despite difficulty in communication;
prefers to interact in group settings; has good response to
strangers and is able to clearly express his emotions through
facial cues. Px has no specific diet restrictions, meat = veg.
Currently, attends special education program.
• Px lives in a bungalow type of house c his parents and
grandmother; family members have positive view towards
px’s condition and is supportive.
Rank of pt 1
No. of siblings 0
Primary caregiver Father
Parents Occupation Government
Employee
Educational level of College
Parents
House Dimension:
• Entrance to Living Room = ~ 2 m
• Living Room to Kitchen = ~ 2 m
• Living Room to Bedroom = ~ 3 m
• Bedroom to CR = ~ 2 m
• Type of flooring / surface = Tiles
• (-) Ramps
• (-) Stairs

Pt’s Goal: To increase indep and for the px to amb

indep and sit unsupported.
 VS OBJECTIVE
  a during p
BP 70/50 70/50 70/50
(L arm, Aneroid mmhg mmhg mmhg
Sphygmommanomet
er)
PR, SPO2 96 bpm 98 bpm 97 bpm
(R Index, Pulse
Oximeter)
RR 18 cpm 20 cpm 19 cpm
Temperature 36 oC 36 oC 36 oC
(R Axilla, Digital
Thermometer)

Sig. VS are
WNL.
 OI:
• Px is amb s AD, +1 min assist
• Px is Alert/Coherent/Cooperative
• Body type: Ectomorph
• Communication: Non-verbal / Facial cues
• General Behaviour: Hyperactive
• Play Behaviour: Group
• Attention span: FAIR; Maintained for ~ 30 mins

Grade Description
POOR Unable to return to task even with
prompting

FAIR Able to return to task with prompting

GOOD Not distracted or can easily return to
task even without prompting
Frustration Tolerance: FAIR
Grade Description

POOR Shows frustration after doing 0/--25% of the task,

needs maximal prompting to continue task

FAIR Shows frustration after doing 26 – 75% of the

task, needs moderate prompting

GOOD Shows frustration after doing >75% of task or does

not show frustration, needs minimal prompting
 OI PA RIN
• (+) flat occiput
• (+) epicanthal fold
• (+) Brushfield spots
• (+) Flat nasal bridge
• (+) Low-set ears
• (+) Pes planus on (B)
• (-) W-sitting position
• (-) drooling
• (-) trophic skin changes
• (-) scars or wounds
• (-) swelling
• (-) atrophy
• (-) Attachments
 Palpation:
• Pt is Normothermic on all exposed body areas
• Pt is Hypotonic on (B) UE/LE
• (-) Sublaxation/dislocation
• (-) Tenderness
• ROM:
• Findings: All major joints of B UE/LE were
actively and passively assessed and were seen
to be WNL.
• Significance: for baseline data
 FMT:
Legen Grade
d
0 No ability

1 Beginning ability, Partially achieved,

Insecure, Momentarily
2 Reliable Achieved with abnormal
pattern
3 Reliablility achieved with near to
normal pattern
 Action Grade Description
Head Control 2 Pt was able to extend his neck
Trunk Control 1 Pt was able to reach an object on the floor
Rolling 1 Pt was able to roll on the floor while playing c his friends
Supine to prone 1 Pt was able to perform supine to prone while watching video
on cellphone
Prone to supine 1 Pt was able to perform supine to prone while watching video
on cellphone
Prone on elbow 2 Pt was able to perform supine to prone while watching video
on cellphone
Creeping 2 Pt was able to perform creeping by imitating a pig
Quadruped 2 Pt was able to perform creeping by imitating a horse
Crawling 2 Pt was able to perform crawling by imitating a snake
 Sitting assumed 2 Pt. was able to initiate sit up but requires use of both hands
for support
Sitting balanced 1 Pt. requires full support and assistance to maintain sitting
position, Pt. posture when sitting is stooped
Kneeling assumed 0 Pt was unable to initiate kneeling transition
Kneeling B/T 0 Pt. was unable to maintain kneeling position
Half kneeling assume 0 Pt was unable to assume half kneeling position
Half kneeling B/T 0 Pt was unable to maintain half kneeling position independently
Standing assume 0 Pt requires max. assistance to stand
Standing B/T 0 Pt was unable to maintain standing independently

Sig. Pt. is unable to maintain independent sitting,

kneeling, half kneeling and standing is 2 to Hypotonia
 Sensory Examination
System STD Response
Visual    
Threat Suprising px c a clap Laughs
Tracking Toy rattle Follows direction of toy

Localization Toy rattle Follows direction of toy

Tactile    
Light Tough Cotton Turns head towards direction
of stimulus
Pain Neuropin Turns head towards direction
of stimulus
Pressure Thumb Turns head towards direction
of stimulus
Auditory    
Localization Calling out his name Turns head towards direction
of stimulus

Findings: Px is responsive as to tactile, auditory, and tactile stimulus

Sig. Px has intact auditory pathway, sensory pathway, and visual pathway.
 
 DTR

Findings: Pt presents c Gr 1+ on (B) Biceps/Triceps/Brachioradialis

reflex/Patellar tendon/Achilles tendon
Sig. 2 to poor development of motor control
PATHOLOGIC REFLEXES:
• (-) Babinski reflex
• (-) Chaddock’s reflex
• (-) Oppenheim’re reflex
• (-) Gordon’s reflex
Significance: For baseline data

PRIMITIVE REFLEXES:
Findings:
• (-) ATNR
• (-) Plantar Grasp
• (-) STNR
• (-) Palmar Grasp
• (-) Moro
Significance: for baseline data
 REACH/GRASP/RELEASE:
Legend:
Score Description

Poor (-) RGR; (+) R (-) GR

Fair (+) R c difficulty in GR; (+) GR c

difficulty in R
Good (+) RGR
 RGR R UE L UE

Reach (+) (+)

Grasp (-) (-)

Release (+) (+)

Findings: Pt. has a FAIR reach/grasp/release

Sig. d/t hypotonia resulting to decreased forced generation of ms; px may have
difficulty in performing UE ADLs
 ANTHROPOMETRIC MEASUREMENT:

• Leg Length Measurement

  Landmark (L) (R) Diff
TLLM ASIS to medial 24 24 0 cm
malleolus cm cm

ALLM Umbilicus or 25 25 0 cm
xiphoid to
medial
malleolus

Sig. For baseline data.

 Sitting Balance/Tolerance: Static
• Legend:
Tolerance
POOR = <15 mins
POOR (+) = 15 – 30 mins
FAIR = 30 – 45 mins
FAIR (+) = 45 – 60 mins
GOOD = > 60 mins
Balance
0 = Absent
1 = Can assume
2 = Assume + Maintain
3 = Assume, Maintain, and Weight shift
4 = Assume, , Maintain, Weight shift, and Challenge

Findings: Px has POOR (+) Sitting Tolerance and Gr 1 Sitting Balance

Sig. d/t hypotonia t
PA:
• Findings: N/A; Px is unable to support indep
upright posture.

GA:
• Findings: N/A; Px is unable to support indep
upright posture.
 Functional Test:
• WeeFIM: Pediatric FIM
Legend:
• No Helper
• 7- Complete independence (Time, Safely)
• 6- Modified independence (Device)
• Helper-Modified dependence
• 5- Supervision (100%)
• 4- Min. asst (75%)
• 3- Mod. Asst (50%)
• Helper-Complete dependence
• 2- Max. Asst (25%)
• 1- Total Asst or not testable (less than 25%)
 ADL GRADE
Self care  
Feeding 4
Grooming 4
Bathing N/A
Upper Garment Dressing 4
Lower Garment Dressing 4
Sphincter Control  
Bladder Mx N/A
Bowel Mx N/A
Mobility  
Bed mobility 5
Chair mobility 5
Toileting N/A
Transfer 5
   
 
 ADL GRADE
Locomotion  
Gait 5
Expression 5
Communication 4
Comprehension 4
   
Social Cognition  
Social Interaction 5
Memory 4
Problem Solving 4
 
• Findings: Px requires min assist as to all
selfcare activities, in communication,
comprehension, memory, and problem
solving; Supervision during Bed mobility, Chair
mobility, Transfer, Gait, and Expression
• Sig. Px is dep on all ADLs tested.
 ASSESSMENT
• PT IMPRESSION:
J.R. a 5 y/o and 3 months Male px who was dx c Down Syndrome presents c hypotonia
resulting to functional muscle weakness manifested by inability to maintain independent
sitting, kneeling, and standing. Pt. also presents with fair concentration span, needs
supervision as to upper garment dressing, moderate assistance on comprehension; maximal
assistance on bathing and expression; and total assistance on memory and problem solving;
pes planus on (B) feet

• PROCEDURAL INTERVENTION:
PT proposes a rehabilitative to preventative intervention scenario to help the pt in his speech
through rehabilitation and to prevent pes planus of B feet.

• REHAB POTENTIAL:
Pt. has a good prognosis since pt’s family is willing and even though they are financially
challenged, the gap between the developmental age is not that far from normal.
 
 PROBLEM LISTS:
Problem List STG (3x a wk; 3 months) LTG (3x a wk; 6 months)
Pt is unable to maintain Pt will be able to demonstrate Pt will be able to
independent sitting, improved sitting balance from demonstrate improved
manifested by poor grade 1 to grade 2 and sitting balance from grade 1
balance and tolerance tolerance from poor to fair p 3 to grade 3 and tolerance
months of tx sessions from poor to good p 6
months of tx sessions

Pt. is unable to assume Pt. will demonstrate ability to Pt will demonstrate ability
and maintain standing assume and mantain standing to assume and maintain
position independently position with minimal standing position p 6
assistance p 3 months of tx months of tx sessions.
sessions
 PROBLEM LISTS:
Problem List STG (3x a wk; 3 months) LTG (3x a wk; 6 months)
Pt is supervised as to Pt will be able to demonstrate Pt will be able to
grooming and upper improved grooming, upper demonstrate improved
garment dressing; garment dressing; grooming, upper garment
moderate assistance on comprehension; bathing, dressing; comprehension;
comprehension; expression, memory; and bathing, expression,
maximal assistance on problem solving as manifested memory; and problem
bathing, expression and by play therapy p 3 months of solving as manifested by
memory; and total tx sessions play therapy p 6 months of
assistance on problem tx sessions
solving.

Pes planus on B feet   Pt will demonstrate absence

of pes planus as manifested
by wearing foot orthoses p 6
months of tx sessions.
• Plan
– 1. Sitting tolerance x 10-15 mins. c play therapy to
incorporate independence
• promote joint approximation to spine and pelvis for
weight bearing
– 2. Pull to stand x 10 reps x 2 sets (or as tolerated)
– 3. weight bearing- joint approximation on B LE
– 4. Standing tolerance x 30SH x 5 reps
• incorporate play therapy while standing
– 5. ADL simulation activities, in grooming and dressing
• incorporate energy conservation and pacing
• HIP
• 1. Patient and Family education
– Promote recreational activities for cardiopulmonary
endurance (swimming, dancing)
– regularly advise patient to play and join social groups
– Practice all PT mgt. learned at home
– Promote proper posture across all positions
2. Referrals
- Refer to orthotist for shoe modification for pes planus
- Refer to OT for improvements in intellectual ability
• HEP
– Pull to stand x 10 reps
– Sitting tolerance
– Standing tolerance
• Precaution
– Risk for falls
– Energy conservation during activities