University of Santo TomasCollege of Rehabilitation Sciences

Department of Occupational Therapy

DOWN SYNDROME DECURY

Group 1:Ang, Serena Ashley L.Dizon, Ma. Samanta R.Lim, Audrey Michelle L.

Pesigan, Albert Johann P.Tamio, Maria Teresa E.

5OT

December 1, 2007

1

OT INITIAL EVALUATION

GENERAL INFORMATIONName: J.S.Age/ Sex: 13 10/12 / FemaleB-day: June 23, 1993Date of IE: April 23, 2007Diagnosis: Down's SyndromeSource of Information: Medical chart, MotherRelation of Informant to client: Mother

SUBJECTIVE FINDINGS

HPIThis is the case of J.S., a 13-year-old female born at full term to a then 43-year-old mother G6F5 (5-0-0-5) via NSD with cephalic presentation at the East Avenue Hospital assisted by the doctor.

Maternal history revealed that mother neither had any health problems nor vices. Mother had (-) diabetes, (-) hypertension, and a non-smoker and non-drinker of alcohol.

Prenatal history revealed that pregnancy of mother was unplanned and unwanted. Mother had regular check ups and undergone ultrasound once, which revealed that she had twins, but did not reveal anything about the pt’s condition. She did not take any drugs other than vitamins and supplement. She did not have any illnesses during her pregnancy.

Perinatal history revealed that mother labored for 5 hours before the twins came out (from 7pm to 12am). Mother delivered fraternal twins. Pt came out first, followed by her twin brother in a few minutes. There were no complications reported on mother and twins. However, doctor then noticed that pt has physical features such flat face, slanted eyes, simian crease, and muscular hypotonia different from his twin brother. Doctor diagnosed the pt with Down syndrome.

Postnatal history revealed that when pt is at 1 year of age, mother noticed that her hands were unusual. They were very soft and flexible as pt could rotate her hands through her wrist beyond the normal range. Fingers could be hyperextended, predominantly at the PIP and DIP joints. Mother observed that her motor development was lagging behind and seems not normal as compared with his twin brother’s. Moreover, her appearance looks different from them and with other children. Pt did not have any major illnesses except for common colds, coughs, and fever. There were no significant events on pt thereafter. In the year 2001 at 8 years of age, pt had dengue fever. Pt was confined at FEU hospital for one week and received antibiotics. Critical monitoring on the pt was maintained. Nurses took samples and checked the pt’s blood every 8 hours. Mother described that she had then a “50/50” chance of living. Fortunately, pt recovered from the illness with continuous medications and critical monitoring. Up until 2006, there were no significant events in the pt's history. In January 2007, mother decided to consult Dr. Evangelista at PCMC as suggested by the pt’s older sister since they noticed that pt had a decreased interest in social participation and interaction. Dr. Evangelista advised them to attend OT twice a week and orders are listed below.

OT orders 1) Evaluation2) Increase FMS3) Increase cognitive stimulation4) BMTs

Educational History/Other Therapies ReceivedPt started schooling at the age of 6 in kindergarten at Mount Carmel, a private school. But the teacher

2

informed mother that her daughter was being teased and humiliated by her classmates. They laughed at her physical appearance, and tricked her into doing things without even knowing that she is being put to shame. Regarding school, pt experienced difficulty coping up with the lessons and her classmates. According to the pt's mother, the teacher advised to transfer the child to grade one so she will not be stuck on kindergarten. However, the mother decided to stop her schooling because situation at school concerning her peers are getting worse. Pt is familiar with the alphabets and numbers, and has little background in writing.

On June 2006, mother tried to send her to a public school for special children at Commonwealth Elementary School. However, mother decided to pull her out because she has observed that the school is not safe for her and she fears that the pt might have difficulty relating with the children of different ages and diagnoses.

Pt did not receive therapy in the past.

Developmental HistorySkill Achievement Normal Age

Hold head 4-5 mos. 4 mos.Roll over 7 mos. 5-6 mos.Transfer objectSits alone

unrecalled9 mos.

6 mos.6-7 mos.

Stands aloneWalks alone

1 yr.9 mos.

10-11 mos.15 mos.

Social smileEye contact

4-5 mos.unrecalled

2-3 mos.

First Word 1 yr. (“tatay”) 12-18 mos.

Significance: Pt’s developmental stage is not at par with his chronological age.

Contexts of Occupational Performance

a. Physical ContextAccording to mother, areas at home are accessible enough for them to move on. There are no stairs, no plants and pet animals inside, and furniture are arranged properly. Doors entering the house, as described by the patient’s mother, do not have any peepholes or screens in which people from the outside are not visible. Mother reported that pt usually stays at the living room, particularly goes to an area where music is being played.

b. Personal ContextPt is 13 years old. She is the second to the youngest of the seven children. Most of her siblings are at their early 30’s, married and are living independently. Also, her twin brother is currently in first year high school. Pt's father, who works as a security guard, is the primary source of their income. Mother reported that the income is just enough to make each days need.

The mother is the sole caregiver of the pt since only the two of them are left alone at home. Mother said that she did not expect that her daughter would developed into such condition, nevertheless, she is supportive to her needs, and takes care of her very well.

According to the mother, pt used to be a happy and energetic child, but after her older siblings left home, the pt was noted to be timid and had decreased interests. Pt likes singing and coloring.

c. Social ContextAccording to the mother, pt is fond of waving her hands and saying "hello" to everyone. However, her social skills gradually disintegrated ever since she stopped schooling and when her older siblings

3

moved far from home. Presently, pt’s mother prefers to keep her at home because of her fears that pt might get harmed. Thus, resulting in the pt’s decrease chances of interacting with other people.

Her family generally would want pt to learn to be independent in everyday activities. Nonetheless, her mother would provide her needs as long as she can. Considering the availability of the family members, it is far-fetched. The father is off for work while pt’s siblings have their own families and live on different places far from home. Thus, only the mother and pt are left at home.

d. Cultural ContextThe mother reported that she does not implement disciplinary actions since pt follows instructions promptly.

The pt’s family is Roman Catholic. They neither do any rituals nor believe in superstitions at home. According to the mother, they only practice typical Filipino traditions at home and does not influence the performance of the pt in everyday activities.

Chief Complaint“Dahil nga sa kondisyon niya tinutukso siya. Pinagtatawanan siya dahil sa itsura nga niya. Tapos ginagaya niya ung mga kaklase niya. Minsan bigla nalang siyang sisigaw o kaya nangangarate. Hindi na rin siya masaya ngayon, kasi kami nalang. Tahimik na siya hindi katulad noon marami kami. Siguro nagsasawa na siya dahil kami na lang dalawa sa bahay.”

Goals of the Client “Matuto siya sa sarili at sa mga gawaing bahay tulad pag-ayos ng kama, maglinis ng bahay at

kasama na rin yung kakayahan niyang manatili sa bahay.” “Kung puwede rin matutong magsulat” “Maging masaya siya ulit” “Matuto siyang kumilala sa ibang tao”

OBJECTIVE FINDINGS Performance in Areas of Occupation

1) ADLa. Performance in DressingActivity: Actual dressingPt was asked to wear a vest, and a t-shirt that was available at the center. Pt was asked to don the vest and button it up, and was also asked to unbutton and doff the vest and fold it back into a container. The pt was then asked to don a t-shirt and remove it afterwards, folding it back into the container likewise. Pt’s ability to don and doff lower body garments were observed when the pt went to the bathroom and was observed to be able to unzip her pants independently, but is unable to unbutton and button her pants. Pt needs assistance from mother in unbuttoning and buttoning. According to the mother, pt has difficulty distinguishing between front and back of clothes. Pt is unable to button/unbutton clothes and ADL board.

IndependenceLevel of assist – Pt requires moderate cueing in donning and doffing the vest and the t-shirt given to her. Pt needs to be cued on which side of the shirt is the front. Therapist’s had to repeat instructions for around 4-5 times before pt complies with the command. Pt needs moderate HOHA in buttoning the vest.

Adequacy1. efficiency of action

1. Presence of, intensity of difficulty – Pt has difficulty in dressing particularly in identifying front and back, and the buttoning of the vest.

4

2. duration of performing the activity – Pt took around 5 minutes to don the shirt, and 1 minute to doff. This was due to the pt’s difficulty in complying to requests made by the therapists.

2. acceptability of outcome1. meets/does not meet standards – does not meet normative standards since at

the pt’s age she is expected to dress independently.

2. satisfaction – pt’s mother is not satisfied with her daughter’s performance in dressing since it takes time and effort. Mother also prefers that her child attain some level of independence in dressing so she can appear pleasing.

3. level of experience – According to the pt’s mother, the pt is often dressed by the mother and requires mod cueing with Upper body garments, but needs assis-tance in buttoning lower body garments. Pt is capable of pulling down, and putting up lower body garments.

b. Feeding:Activity: Actual FeedingPt’s mother was asked to bring a common meal that the pt would eat. Meal consisted of rice and Vienna sausages. Pt was asked to open the Tupperware and eat her meal using a spoon and a fork, with a bottle of water beside her meal. Patient was independent in eating during the activity and there were no problems noted.

c. Toileting:Actual Activity: Pt was independent in toileting when accompanied by a female therapist to the toilet.

2) IADL PERFORMANCEActivity: Actual dressingPt was asked to wear a vest, and a t-shirt that was available at the center. Pt was asked to don the vest and button it up, and was also asked to unbutton and doff the vest and fold it back into a container. The pt was then asked to don a t-shirt and remove it afterwards, folding it back into the container likewise. Pt’s ability to don and doff lower body garments were observed when the pt went to the bathroom and was observed to be able to unzip her pants independently, but is unable to unbutton and button her pants. Pt needs assistance from mother in unbuttoning and buttoning. According to the mother, pt has difficulty distinguishing between front and back of clothes. Pt is unable to button/unbutton clothes and ADL board.

IndependenceLevel of assist –Pt requires min verbal and visual cueing when folding the clothes. Pt needs repeated instructions before she initiates the activity. Adequacy

efficiency of action1. Presence of, intensity of difficulty – Pt has difficulty in dressing particularly in identifying front

and back, and the folding of the vest.

2. duration of performing the activity – Pt takes around 1-2 minutes per item of clothing. acceptability of outcome

a) meets/does not meet standards – does not meet normative standard since she is ex-pected to perform the activity independently.

5

b) satisfaction – pt’s mother is not satisfied with her daughter’s performance since it would be more convenient and efficient at home.

c) level of experience – According to the mother, the pt is not practiced in folding her own clothes since the mother usually does it for the pt.

3) FORMAL EDUCATIONAL PERFORMANCEActual Activity: Letter tracing, coloring of figures in a coloring book, matching of letters on foam boards.

a) IndependenceLevel of assist – Pt requires HOHA in tracing of letters. Pt also needs mod cueing in coloring to maintain coloring within the borders of the figure. Pt was able to match letters on foam boards with min cueing from the therapist.

b) Adequacy(a) efficiency of action1. Presence of, intensity of difficulty – Pt has difficulty in tracing letters and has mod amounts of de-

viations in all directions. Pt was observed to have a quadropod grip on both the pencil and crayons. Pt had difficulty in coloring within borders. Pt was observed to have a random pattern in coloring. Pt uses trial and error in matching letters to their respective foam boards and correctly matches them 65% of the time.

(b) acceptability of outcome meets/does not meet standards – Pt is significantly delayed in her ability to write and prehension

of pencils and crayons since she uses a quadropod grip.

satisfaction – pt’s mother is not satisfied with her daughter’s performance since her skills are not at par with her chronological age.

level of experience – According to the pt’s mother, pt had stopped schooling at 1st grade and has been unpracticed with writing and coloring activities.

Actual Activity: Cutting activityPt was asked to cut a straight line crosswise on a piece of bond paper.

a. IndependenceLevel of assist – Pt requires HOHA in cutting a straight line through a piece of bond paper crosswise. Pt does not respond to verbal cues given by the therapist.b. Adequacy

efficiency of actiona) Presence of, intensity of difficulty – Upon receiving the scissors from the therapist, the pt was

not able to assume a proper grip on the scissors. Pt had no knowledge on how to use the scissors and had to be physically guided to assume proper prehension. Pt was only able to snip 2 inches independently and was unable to maintain throughout the rest of the line.

acceptability of outcome1. meets/does not meet standards – Pt is significantly delayed in her ability to cut as compared to her

chronological age.

2. satisfaction – pt’s mother is not satisfied with her daughter’s performance since her skills are not at par with her chronological age.

3. level of experience – According to the pt’s mother, pt had stopped schooling at 1st grade and has been unpracticed with scissoring activities.

6

4) SOCIAL PARTICIPATIONActual Activity: Pt was tasked to play with a basketball and run through an obstacle course which consists of crossing a balance beam, jumping on a trampoline 10 times, and shooting a ball through a basket in 7 rounds. This was done to observe pt’s interaction with therapists in a structured and associative play activity. Pt does not respond to questions and does not participate in meaningful conversations. Pt was observed to have echolalia as she often repeats phrases and can sometimes be heard singing familiar tunes from television.

1. IndependenceLevel of assist – Pt requires mod cueing in the performance of the obstacle course. Pt also needs physical guidance and prompting.

2. Adequacy efficiency of action Presence of, intensity of difficulty – Pt often forgets the next step of the obstacle course.

Pt does not seek questions or clarifications from the therapist. Pt has minimal interaction with the therapist and has absent eye contact or does not gaze when the therapist gives instructions.

acceptability of outcomea) meets/does not meet standards – Pt does not meet standards since she cannot communicate

functionally.

b) satisfaction – pt’s mother is not satisfied since her daughter cannot communicate well with people at home. Pt’s mother also wishes that her child be able to participate in social interactions just like how she was when she was a child.

II. Performance skills as related to client factorsPERFORMANCE AREA PERFORMANCE SKILL CLIENT AND/OR

CONTEXTUAL FACTORS THAT INFLUENCE PERFORMANCE SKILL DEFICIT

1. ADLa. Dressing

Adaptation

unable to attend to task given

difficulty noticing be-tween front and back of clothes

unable to accommo-date/ modify actions in response to problems in dressing

(ADL boards)Knowledge

unable to use buttons during buttoning and unbuttoning

Mental Functions Specific Mental Functions

divided attention

(-) concept formation

(-) problem solving

Specific Mental Functions (-) concept formation

Habits Impoverished habits

lack of opportunity to practice buttoning/ un-buttoning

7

b. Toilet Hygiene

2. IADLa. Home establishment and management

4. EDUCATION a. Writing

b. Coloring

Knowledge unable to use sanitary

napkins

Temporal Organization Initiates

unable to initiate, con-tinue, sequence, and terminate folding of clothes

Motor Skills difficulty manipulating

pencil during tracing activities.

Process Skills limited ability to attend

to task given difficult following 2-3-

step verbal instructions

Motor Skills difficulty manipulating

crayons during tracing activities.

HabitsHigher-level cognitive functions

(-) problem caring for menstrual solving

Impoverished habits not able to practice

needs.

Higher-level cognitive functions

(-) judgment, concept formation, problem solving

Impoverished Habits lack of opportunity to

practice folding of clothes

Neuromusculoskeletal and movement-related functions

muscle tone functions (hypotonic)

Specific Mental Functions divided attention

Higher-level cognitive functions

(-) concept formation

Neuromusculoskeletal andmovement-related functions

muscle tone functions (hypotonic)

II.

8

OVERALL ASSESSMENTStrengths and Weaknesses and Factors affecting Occupational Performance

Pt has fair potential in performing ADLS. Pt can dress self with moderate assistance. Pt is not completely attentive throughout the task but can easily be redirected with the use of minimal prompting, and cueing.

Pt has fair potential for IADLS. Negative factors would include the nature of Down’s syndrome which has a low chance of improving cognitive functions. Pt will have difficulty in home management due to negative factors such as when the pt’s mother provides fewer opportunities to practice home management activities such as cleaning the house, and making her own bed and washing dishes. Positive factors may include pt’s fair memory skills which could be used in training the pt to recognize familiar people from strangers to address problems concerning safety.

Pt has fair potential for social participation. Positive factors such as willingness to participate in activities and comply, respond to therapists requests. Pt’s difficulty in meaningful gaze, expressing through gestures, and physical contact are considered negative factors.

Pt has poor potential in educational performance. Negative factors would include pt’s difficulty in specific mental functions that could interfere with formal educational participation. Positive factors such as willingness to participate in simple learning activities can help pt participate in informal personal education. Problem List (Prioritized)

1. Problems in ADL Performance

Dressing difficulty noticing between front and back of clothes unable handle buttons during buttoning and unbuttoning

Toileting unable to use sanitary napkins

2. Problems in IADL Performance

Home establishment and management unable to initiate, continue, sequence, and terminate folding of clothes

3. Problems in Education Performance

Writing and coloring difficulty manipulating pencil during tracing activities. limited ability to attend to task given difficult following 2-3-step verbal instructions difficulty manipulating crayons during tracing activities.

PLANIntervention PlanFOR: Developmental, Behavioral, RehabilitationIntervention Method: Remediation, Modification/ Compensation

1. PROBLEMS IN ADL PERFORMANCEa. DressingFOR: Behavioral FOR/Developmental FOR

9

LTG: Pt will be able to dress with minimal assistance in 6 months. STG1: Pt will be able to identify front and back of clothes with moderate to minimal prompts/cues in 3 months.STG2: Pt will be able to continue buttoning half-inserted medium-size buttons independently through holes in 4 OT sessions.

Preparatory Activities: Action songs, dressing a doll Inserting chips through slots of ADL dressing board.

a. BMT: backward chaining- pt is tasked to perform the last step of inserting buttons through buttonholes.

b. (+) Reinforcements such as verbal praises, decreasing HOHA, verbal and physical prompts/cues

c. TUS: Active friendliness to build rapport and motivate pt to participate, Kind firmness to en-force pt to participate.

d. LFT: Infotalk to describe, understand, and remember the activity or what the pt is doing.e. EMT: Covering mirrors with linen and/ or closing curtain should be done to focus pt’s attention

to tasks. f. Purposeful Activity:

Practice actual dressing. Simulated buttoning with use of chips and ADL board. Pt is tasked to insert chips through

buttonholes from the bottom towards the top. If performed successfully, pt will continue with actual buttons provided HOHA and maximal cueing from therapist.

b. ToiletingFOR: Behavioral FOR/Developmental FOR

LTG: Pt will be to use sanitary napkin with minimal cues in 6 months.STG1: Pt will be able place and remove sanitary napkin with moderate assistance in 3 months.

Preparatory Activities: Velcro boards Stickers

g. BMT: backward chaining- pt is tasked to perform the last step of placing the napkin on the underwear

h. (+) Reinforcements such as verbal praises, decreasing HOHA, verbal and physical prompts/cues

i. TUS: Active friendliness to build rapport and motivate pt to participate, Kind firmness to en-force pt to participate.

j. LFT: Infotalk to describe, understand, and remember the activity or what the pt is doing.k. EMT: Covering mirrors with linen and/ or closing curtain should be done to focus pt’s attention

to tasks. l. Purposeful Activity:

Actual placing and removing of napkin. If performed successfully, pt will be tasked to dispose used napkin properly.

2. PROBLEMS IN IADL PERFORMANCEHome establishment and management

FOR: Behavioral FOR, Rehabilitation FORLTG1: Pt will be able to sequence folding of clothes independently in 6 months.STG1: Pt will be able to do last 2 steps of sequence in folding of clothes given HOHA in 8 OT sessions.

a. Preparatory activity: Simple paper folding activities (folding paper in half etc.)

10

b. BMT: 1. backward chaining2. (+) Reinforcements such as verbal praises, decreasing HOHA, verbal and physical prompts.

c. TUS: Active friendliness to build rapport and motivate pt to participate; Kind firmness to enforce pt to participate.

d. LFT: Infotalk to describe, understand, and remember the activity or what the pt is doing. e. EMT: Covering mirrors with linen and/ or closing curtain should be done to focus pt’s attention to tasks. f. Purposeful Activity: Actual folding of clothes. Patient will be taught to 1. Fold sleeves, 2. Fold shirt lengthwise, 3. Fold crosswise. Patient can do the last 2 steps and can be gradated to performing all the steps when there is improvement.

3. PROBLEMS IN EDUCATION PERFORMANCE Writing

FOR: Behavioral/Developmental FOR difficulty manipulating pencil during tracing activities. limited ability to attend to task given difficult following 2-3-step verbal instructions difficulty manipulating crayons during tracing activities.

LTG: Pt will be able to trace letters using a tripod grip on pencil with minimal prompts/cues in 6 months. STG1: Using a tripod grip, pt will be able to trace vertical, and horizontal broken lines with min to no deviations in 3 months.

a. Preparatory activity: Activities using tripod pinch such as pinching clothespins, holding beads during bead spooling etc.b. BMT: (+) Reinforcements such as verbal praises, decreasing HOHA, verbal and physical prompts, visual cues

c. TUS: Active friendliness to build rapport and motivate pt to participate; Kind firmness to enforce pt to participate.

d. LFT: Infotalk to describe, understand, and remember the activity or what the pt is doinge. EMT: Covering mirrors with linen and/ or closing curtain should be done to focus pt’s attention to tasks. f. Purposeful Activity: Pen and paper tasks including tracing, copy and coloring simple geometric shapes with physical borders as cues

Coloring FOR: Behavioral/Developmental FOR LTG: Pt will be able to color simple figures using a tripod grip without deviations in 6 months STG: Pt will be able to color simple figures with minimal deviations given HOHA in 3 months. a. Preparatory activity: Handwriting activities b. BMT: (+) Reinforcements such as physical prompts and decreasing HOHA c. TUS: Active friendliness to build rapport and motivate pt to participate; Kind firmness to enforce pt

to participate. d. LFT: Infotalk to describe, understand, and remember the activity or what the pt is doing e. EMT: Covering mirrors with linen and/ or closing curtain should be done to focus pt’s attention to tasks. f. Purposeful Activity: Arts and craft activities involving coloring shapes and simple geometric figures. Recommendations:

Occupational Therapy management will focus on ADL and IADL training, and social participation. Emphasis should also be put on teaching pt how to communicate effectively at home and community through the communication board, and writing/ drawing skills as an alternative form of

11

communication. However, their feasibility should be further assessed on the pt. Pt may participate initially on one-on-one, and graded to dyad, and to group activities. Pt may benefit from Leisure Interest Assessment for exploration of other interests. Provision of reinforcements such as verbal praises, smiles, claps, verbal and physical prompts should be given. EMTs such as covering mirrors with linen and/ or closing curtain should be done to focus pt’s attention to tasks.

RELATED LITERATUREDown’s Syndrome

The description of Down’s syndrome, first made by the English physician Langdon Down in 1966, was based on the physical characteristics associated with subnormal mental functioning. Since then, Down syndrome has been the most investigated, and most discussed, syndrome in mental retardation. Children with this syndrome were originally called mongoloid because of their physical characteristics of slanted eyes, epicanthal folds, and flat nose.

The incidence of Down syndrome in the United States is about 1 in every 700 births. For a middle-aged mother (more than 32 years old), the risk of having a child with Down syndrome with trisomy 21 is about 1 in 100 births, but when translocation is present, the risk is about 1 in 3. The incidences of Down syndrome at various maternal ages are:

15-29 years - 1 case in 1500 live births 30-34 years - 1 case in 800 live births 35-39 years - 1 case in 270 live births 40-44 years - 1 case in 100 live births

Down’s syndrome is a set of mental and physical symptoms that result from having an extra copy of Chro-mosome 21. Normally, a fertilized egg has 23 pairs of chromosomes. In the case of Down’s syndrome there are three copies of Chromosome 21 instead of two, changes the body and brain’s development.

The problem of cause is complicated even further by the recent recognition of three types of chromosomal aberrations in Down syndrome:

Patients with trisomy 21 (three chromosome 21s, instead of the usual two) represent the overwhelming majority; they have 47 chromosomes, with an extra chromosome 21. The mother’s karyotypes are normal. A nondisjunction during meiosis, occurring for unknown reasons, is held responsible for the disorder.

Nondisjunction occurring after fertilization in any cell division results in mosaicism, a condition in which both normal and trisomic cells are found in various tissues.

In translocation, there is a fusion of two chromosomes, usually 21 and 15, resulting in a total 46 chromosomes, despite the presence of an extra chromosome 21. The disorder, unlike trisomy 21, is usually inherited, and the translocated chromosome may be found in unaffected parents and siblings. The asymptomatic carriers have only 45 chromosomes.

Persons with Down syndrome tend to exhibit marked deterioration in language, memory, self-care skills and problem-solving skills in their 30s. Postmortem studies of those with Down syndrome over the age of 40 have shown a high incidence of senile plaques and neurofibrillary tangles as seen in Alzheimer’s dis-ease. Neurofibrillary tangles are known to occur in a variety of degenerative diseases, whereas senile plaques seem to be found most often on Alzheimer’s disease and Down syndrome. Thus the two disor-ders may share some pathophysiology.

Two different hypotheses have been proposed to explain the mechanism of gene action in Down syn-drome: developmental instability (loss of chromosomal balance) and "gene dosage effect" (Reeves, 2001). According to the gene dosage effect hypothesis, the genes located on chromosome 21 have been

12

overexpressed in cells and tissues of Down syndrome patients, and this contributes to the phenotypic ab-normalities (Cheon, 2003).

Characteristic features of Down’s syndromeEven though people with Down’s syndrome may have some physical and mental features in common, symptoms of Down’s syndrome can range from mild to severe. Usually, mental development and physical development are slower in people with Down’s syndrome than in those without the condition.

Mental retardation is a disability that causes limits on intellectual abilities and adaptive behaviors (concep-tual, social, and practical skills people use to function in everyday lives). Most people with Down syn-drome have IQs that fall in the mild to moderate range of mental retardation.  They may have delayed lan-guage development and slow motor development.

Physical Signs in Down’s Syndrome1. Mouth

Habitually open Fissured lips Small teeth Irregular alignment Large tongue Furrowed tongue Seemingly high- arched palate

2. Eyes Oblique palpebral fissures Epicanthic folds Speckled iris (brush fields) Strabismus Nystagmus

3. Ears: Prominent Malformed Small or absent lobes Folded helix Dysplastic

4. Neck Broad and short Abundant skin

5. Abdomen Diastasis recti (naghihiwalay ang rectus abdominis at linea alba; when px is asked to perform curl

ups, there is ~2cm gap between the rectus abdominis) Umbilical hernia

6. Genitalia Small penis Cryptorchism Small scrotum

7. Head Flat occiput Round shape Flat facial profile

13

Flat nasal bridge Open fontanelle (after the age of 6 months)

Posterior: 12 monthsAnterior: 18 months

8. Chest Funnel type (pectus excavatum) Pigeon breasted (pectus carinatus) Flat nipples Dorsolumbar kyphosis

9. Hands: Short broad hands Short fingers Short 5th finger Curved 5th finger One flexion crease on 5th finger Four finger crease Dysplastic middle phalanx 5th finger

10. Feet Excessive space between 1 and 2 toes Plantar furrow

11. Joints and Muscles Hyperextensibiity or hyperflexibility Hyperabduction of hip joints Muscular hypotonia Weak patellar reflexes Dysplastic pelvis Lack of Moro reflex

Ten most characteristic signs

Ten best diagnostic signs in newly born

1. Small teeth2. Furrowed tongue3. Seemingly high-

arched palate4. Oblique palpebral

fissures5. Epicanthic folds6. Flat occiput7. Short broad hands8. Curved 5th finger9. Four-finger crease10. Hyperextensibility

or hyperflexibilty

1. Oblique palpebral fissures

2. Dysplastic3. Abundant skin4. Flat facial profile5. Four finger crease6. Dysplastic middle

phalanx 5th finger7. Hyperextensibiity or

hyperflexibility8. Muscular hypotonia9. Dysplastic pelvis10. Lack of Moro reflex

Not all babies with Down’s syndrome have all these characteristics, and many of these features can be found, to some extent, in individuals who do not have the condition. Therefore, doctors perform a special test called karyotype before making a definitive diagnosis. To obtain a karyotype, doctors draw a blood sample to examine baby’s cells. They use special tools to photograph the chromosomes and then group

14

them by size, number and shape. By examining the karyotype, they can determine accurately whether or not a baby has Down’s syndrome.

Developmental PatternsThere is evidence that environmental factors, such as good care at home and training, can improve the rate of development in Down’s syndrome. Some degree of poor head control and hypotonia may be present in normal newly born infants. However, in the early months of infancy, the normal infant quickly develops good muscle tone and head control, while the Down’ syndrome infant may remain hypotonic and show little evidence of being able to support.

The usual sitting up age in Down’s syndrome was 12 months or roughly 6 months later than that for the normal infant; however, some sat up as early as 6-8 months and others were delayed until 3 years. A normal infant begins to walk at about 12 months, but most children with Down’s syndrome learn to walk after two years of age. Some did walk at 12 months but others not until 4 ½ years.

LanguageLanguage development was very variable, some used words at 12 months whereas others delayed until 6 years.

A consideration of articulation problems in any child should direct attention to oral structures, oral motor functioning, and hearing acuity. Children with Down’s syndrome exhibit characteristics that lead to articu-lation problems. There are potential predisposing factors toward articulation problems in Down’s syn-drome children. First, there are anatomical considerations. The under developed upper jaw prevents proper relationship to the lower jaw for the production of certain sounds. In addition to this, there is also hypotonia.

The child in consideration of having difficulty with expressive language and is rather difficult to under-stand. It would be advisable to begin remediation with an expressive language program that incorporated work on articulation. Any stimulation technique would be acceptable as long as results were forthcoming, but a combination of visual, auditory, tactile, and kinesthetic stimuli would probably yield good results.

PersonalityLangdon Down made the ff. observations:“ They have considerable powers of imitation, even bordering on being mimics. They are humorous, and a lively sense of the ridiculous often colors their mimicry.”

The newly born Down’s syndrome infant not infrequently is described a “good baby”, not easily disturbed and causing the mothers very little trouble. Later, the children are often described as happy and cheerful and are considered to be good-tempered and easily amused. They tend to mimic and may be mischievous.

IntellectualAlthough each child is unique in his repertoire of abilities, those children with Down’s syndrome fall for the most part within the trainable range, i.e., an average IQ in the range of 40 to 55 (moderate MR). Develop-ment for all of these children usually proceeds normally during the first several months of life, but rapidly decelerates thereafter. Usually, during the first or second year, the Down’s syndrome child’s general level of functioning has stabilized.

With Down’s syndrome children, one of the skills that frequently appear to be inflated as opposed to other areas of intellectual functioning is memory. Often this finding is misinterpreted and the general intelligence of the child is underestimated. It must be kept in mind that general intelligence is best measured by lan-guage functioning and reasoning ability, not by memory.

Educational

15

The communication ability of the Down’s child is often significantly inferior to that of the other trainable children and their inability to be understood creates many social problems. Often, individuals prejudge them intellectually solely on a communication basis.

The majority of programs available for Down’s child are taught in classes for the trainable mentally re-tarded. Concentrated attention is placed on the teaching of self-care and socialization skills. Academic in-tervention in the form of teaching of reading or arithmetic is offered in very special ways. As an example, the formal teaching of reading is usually replaced by the teaching of functional or survival words. These are words the child would need to understand if he/she is to be successful in the home and the commu-nity. Academic intervention in the area of arithmetic include exposure to a functional number system where the student would be taught number concepts involving clothing size, telephone numbers, etc. Sim-ple coins may also be introduced. The term “academics” perhaps should be restated as “functional aca-demics.” Skills the child will be required to perform are associated with their functional value in society.

BehavioralIt has been well established in the experimental laboratory that emitted (or non-reflex) behavior is related functionally to its consequences. The functional analysis helps the therapist to discover the specific func-tional relationship between a behavior and its consequences and provides a baseline measure of the be-havior against which behavior change during treatment can be compared. Consequently, maintained be-havior can be changed in two ways. If the behavior occurs only in the presence of specifiable environ-mental stimuli, altering the stimuli could change the behavior. If, for example, a case revealed that the be-haviors occurred only in school when a Down’s syndrome child was asked to complete 20 subtraction problems, the teacher or attending therapist could ask him to do only two problems at a time. It may be that the task is overwhelming and that the resulting tantrum successfully avoids the task.

Screening for Down’s SyndromeThere are two types of tests for Down syndrome that can be performed before your baby is born:

screening and diagnostic tests. Prenatal screenings estimate the chance of the fetus having Down syn-drome. These tests do not tell you for sure whether your baby has Down syndrome; they only provide a risk assessment. Diagnostic tests, on the other hand, can provide a definitive diagnosis with almost 100 percent accuracy.

There are two types of prenatal screening tests available:

maternal serum screeningo Maternal serum screening tests measure quantities of various substances in the blood of

the mother, including alpha-fetoprotein and the hormones estriol and human chorionic gonadotropin. Together with a woman’s age, these are used to estimate her chance of having a child with Down syndrome. Typically offered between 15 and 20 weeks of gesta-tion, maternal serum screening tests are only able to accurately detect about 60 percent of fetuses with Down syndrome. Many women who undergo these tests will be given false-positive readings, and some will be given false-negative readings

ultrasound (sonogram) screeningo Because maternal serum screening tests are of limited value, they are often performed in

conjunction with a detailed sonogram to check for “markers” (characteristics that some researchers feel may have a significant association with Down syndrome). Recently, re-searchers have developed a maternal serum/ultrasound/age combination that can yield a much higher accuracy rate at an earlier stage in the pregnancy.

Prenatal screening tests are routinely offered to women over the age of 35, due to their increased chances of giving birth to a child with a disability; however, pregnant women of any age can request a test or choose not to have it done. If the estimate determined by prenatal screening is high, doctors will often advise a mother to undergo diagnostic testing.

16

Diagnostic procedures

The diagnostic procedures available for prenatal diagnosis of Down syndrome are chorionic villus sam-pling (CVS), amniocentesis and percutaneous umbilical blood sampling (PUBS). These procedures, which carry a small risk of miscarriage, are about 98 to 99 percent accurate in the detection of Down syn-drome.

Amniocentesis (routinely performed at 14-16/15-22week's gestation) is the most com-monly used and most reliable invasive diagnostic test. This is for older age pregnant women. The procedure is associated with a small risk of pregnancy loss (1 in 200-300)

Chorion villi biopsy (CVS) in the first trimester or 9th to 14th week’s and cordocentesis (collection of fetal blood from the umbilical vein with an ultrasound-guided needle). Fluo-rescence in situ hybridization (FISH) analysis may be performed to analyze interphase cells (uncultured cells) and metaphase spreads (cultured cells) for speedy results. How-ever, these results should be confirmed with chromosome analysis from cultured fetal cells.

Other screening tests include testing for low maternal serum alpha-fetoprotein (MSAFP), high human chorionic gonadotropin (hCG), and low unconjugated estriol (uE3).

Risk for Down’s syndromeAdvanced maternal age remains the only well-documented risk factor for Down’s syndrome. A maternal age of 35 years, the risk is 1 in 385; with a maternal age of 40 years, risk in 1 in 106; with a maternal age of 45, risk is 1 in 30. Couples who have had child with Down’s syndrome are at slightly increased risk (about 1%) for having another affected child.

People with Down’s syndrome rarely reproduce. From 15-30% of women with trisomy 21 are fertile, and they have a 50% risk of having an affected child. No evidence exists of an affected man fathering a child.

Down’s syndrome treatmentDown syndrome is not a condition that can be cured. However, early intervention can help many people with Down syndrome live productive lives well into adulthood. Children with Down syndrome can often benefit from speech therapy, occupational therapy, and exercises for gross and fine motor skills. They might also be helped by special education and attention at school.  Many children can integrate well into regular classes at school. 

Because the risk of vision problems, hearing loss, infection, and hypothyroidism (low thyroid hormone) is increased, screening and treatment may be necessary. Timely surgeries for cardiac and gastrointestinal anomalies are necessary to prevent serious complications. Digitalis and diuretics are usually needed for the medical management of cardiac anomalies along with prophylaxis for subacute bacterial endocarditis.

People with Down syndrome should have plenty of opportunities to participate in community life. Children with Down syndrome should participate in social activities, sports, and other aspects of society during the growing years.

Management strategies for Down’s syndromeOccupational Therapy is one of the mainstays of managing a child with Down syndrome. Occupational therapy services for children with Down syndrome can be accessed through hospitals, home care pro-grams, infant development programs, specialty nursery schools, public schools, and through private ther-apy services. In general, Occupational therapy services are included in most early intervention programs for infants, where positioning, feeding, and motor strengthening exercises are some of the services avail-able.

17

Occupational Therapists help to develop: Activities of daily living (ADL Training): feeding, dressing, grooming, going to toilet, etc.) Skills related to school performance (e.g. writing, cutting) Play and leisure skills Maintaining and improving fine and gross motor skills Rehabilitation therapy depending on physical and intellectual abilities, and trainable skills Psychosocial adjustment through games and interactive projects, games, plays, and other activi-

ties.

Adolescence (12 to 18 years)Begin functional transition planning (age 16). Twice yearly dental exams. Consider enrollment for SSI de-pending on family income. SBE prophylaxis needed for individuals with cardiac disease. Continue dietary and exercise recommendations. Update estate planning and custody arrangements. Encourage social and recreational programs with friends. Register for voting and selective service at age 18. Discuss plans for alternative long term living arrangements such as community living arrangements (CLA). Reinforce the importance of good self-care skills (grooming, dressing, money handling skills).

COMPARISON OF CLASSICAL AND CLINICAL MANIFESTATIONSPerformance Components/

Area/ Physical characteristicsClassical Picture Clinical Picture

I. Physical features of Down’s syndrome

1. Flat face with abnormal shape of the ears

2. Upward slant to the eye3. Prominent epicanthal folds4. Deep crease in the palm of

the hand (simian crease)5. Flat nose6. White spots on the iris of

the eye (brushfield spots)7. Broad and thick hands with

little finger short and curved

8. Hypotonicity and loose ligament

Pt was noted to have a flat face but ears were normal.Pt was observed to have slanted eyes typical of a DS pt.Pt had presence of simian crease

Pt had hypotonicity clearly observed on her fingers when passively moved, and on her slouched posture.

2. Intellectual Trainable range, IQ average of 40-55

3. Personality They are happy and cheerful and are considered to be good-tempered and easily amused. They tend to mimic and may be mischievous.

Pt used to be a happy and energetic child, but after her older siblings left home, the pt was noted to be timid and had decreased interests.

4. ADL Lack of independence Difficulty un swallowing and chewing due to small size of nasal passages

At age 13 pt is still dependent on mother for dressing. Pt has no difficulty.

5. Educational Performance Communication ability of the Down’s child is often significantly inferior

Pt has difficulty in communicating in school and is not at par with her classmates in academics

6. Social Participation Difficulty with expressive language

Pt has difficulty in expressing herself verbally.

18

PrognosisThe overall outlook for individuals with Down syndrome has improved dramatically in recent years. Many adult patients are healthier, have more active roles in society, and have increased lifespan. However, life expectancy is still reduced compared to the normal population. Congenital heart disease is the major cause for early death.

Pt has an overall guarded prognosis for independence in ADLs, education, and work due to her significant delay in developmental skills.

Pt has fair potential in performing ADLS. Pt can dress self with moderate assistance. Pt is not completely attentive throughout the task but can easily be redirected with the use of minimal prompting, and cueing.

Pt has fair potential for IADLS. Negative factors would include the nature of Down’s syndrome which has a low chance of improving cognitive functions. Pt will have difficulty in home management due to negative factors such as when the pt’s mother provides fewer opportunities to practice home management activities such as cleaning the house, and making her own bed and washing dishes. Positive factors may include pt’s fair memory skills which could be used in training the pt to recognize familiar people from strangers to address problems concerning safety.

Pt has fair potential for social participation. Positive factors such as willingness to participate in activities and comply, respond to therapists requests. Pt’s difficulty in meaningful gaze, expressing through gestures, and physical contact are considered negative factors.

Pt has poor potential in educational performance. Negative factors would include pt’s difficulty in specific mental functions that could interfere with formal educational participation. Positive factors such as willingness to participate in simple learning activities can help pt participate in informal personal education.

REFERENCES:

Kaplan H., and Sadock B. Synopsis of Psychiatry: Behavioral Sciences, Clinical Psychiatry 7th ed.

Smith, G.F. Down’s Anomaly. 2nd edition. 1976

19