University of Santo Tomas College 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

OT INITIAL EVALUATION GENERAL INFORMATION Name: J.S. Age/ Sex: 13 10/12 / Female B-day: June 23, 1993 Date of IE: April 23, 2007 Diagnosis: Down's Syndrome Source of Information: Medical chart, Mother Relation of Informant to client: Mother SUBJECTIVE FINDINGS HPI This is the case of J.S., a 13-year-old female born at full term to a then 43-year-old mother G6F5 (5-0-05) 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 pts 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 brothers. 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 pts 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 pts 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) Evaluation 2) Increase FMS 3) Increase cognitive stimulation 4) BMTs Educational History/Other Therapies Received Pt started schooling at the age of 6 in kindergarten at Mount Carmel, a private school. But the teacher

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 History Skill Hold head Roll over Transfer object Sits alone Stands alone Walks alone Social smile Eye contact First Word Achievement 4-5 mos. 7 mos. unrecalled 9 mos. 1 yr. 9 mos. 4-5 mos. unrecalled 1 yr. (tatay) Normal Age 4 mos. 5-6 mos. 6 mos. 6-7 mos. 10-11 mos. 15 mos. 2-3 mos. 12-18 mos.

Significance: Pts developmental stage is not at par with his chronological age. Contexts of Occupational Performance a. Physical Context According 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 patients 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 Context Pt is 13 years old. She is the second to the youngest of the seven children. Most of her siblings are at their early 30s, 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 Context According 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

moved far from home. Presently, pts mother prefers to keep her at home because of her fears that pt might get harmed. Thus, resulting in the pts 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 pts 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 Context The mother reported that she does not implement disciplinary actions since pt follows instructions promptly. The pts 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) ADL a. Performance in Dressing Activity: Actual dressing Pt 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. Pts 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. Independence Level 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. Therapists had to repeat instructions for around 4-5 times before pt complies with the command. Pt needs moderate HOHA in buttoning the vest. Adequacy 1. 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.

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 pts difficulty in complying to requests made by the therapists. 2. acceptability of outcome 1. meets/does not meet standards does not meet normative standards since at the pts age she is expected to dress independently. 2. satisfaction pts mother is not satisfied with her daughters 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 pts mother, the pt is often dressed by the mother and requires mod cueing with Upper body garments, but needs assistance in buttoning lower body garments. Pt is capable of pulling down, and putting up lower body garments. b. Feeding: Activity: Actual Feeding Pts 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 PERFORMANCE Activity: Actual dressing Pt 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. Pts 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. Independence Level 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 action 1. 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 expected to perform the activity independently.

b) satisfaction pts mother is not satisfied with her daughters 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 PERFORMANCE Actual Activity: Letter tracing, coloring of figures in a coloring book, matching of letters on foam boards. a) Independence Level 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 action 1. Presence of, intensity of difficulty Pt has difficulty in tracing letters and has mod amounts of deviations 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 pts mother is not satisfied with her daughters performance since her skills are not at par with her chronological age. level of experience According to the pts mother, pt had stopped schooling at 1st grade and has been unpracticed with writing and coloring activities. Actual Activity: Cutting activity Pt was asked to cut a straight line crosswise on a piece of bond paper. a. Independence Level 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 action a) 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 outcome 1. meets/does not meet standards Pt is significantly delayed in her ability to cut as compared to her chronological age. 2. satisfaction pts mother is not satisfied with her daughters performance since her skills are not at par with her chronological age.

3. level of experience According to the pts mother, pt had stopped schooling at 1st grade and has
been unpracticed with scissoring activities. 4) SOCIAL PARTICIPATION Actual 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 pts 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. Independence Level 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 outcome a) meets/does not meet standards Pt does not meet standards since she cannot communicate functionally. b) satisfaction pts mother is not satisfied since her daughter cannot communicate well with people at home. Pts 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 factors PERFORMANCE AREA PERFORMANCE SKILL

1. ADL a. Dressing

Adaptation unable to attend to task given difficulty noticing between front and back of clothes unable to accommodate/ modify actions in response to problems in dressing

CLIENT AND/OR CONTEXTUAL FACTORS THAT INFLUENCE PERFORMANCE SKILL DEFICIT Mental Functions Specific Mental Functions divided attention (-) concept formation (-) problem solving

(ADL boards) Knowledge unable to use buttons during buttoning and unbuttoning

Specific Mental Functions (-) concept formation Habits Impoverished habits lack of opportunity to practice buttoning/

unbuttoning b. Toilet Hygiene Knowledge unable to use sanitary napkins Habits Higher-level functions

cognitive

(-) problem caring for menstrual solving

Impoverished habits not able to practice needs. 2. IADL a. Home establishment and management Temporal Organization Initiates unable to initiate, continue, sequence, and terminate folding of clothes

Higher-level cognitive functions (-) judgment, concept formation, problem solving Impoverished Habits lack of opportunity to practice folding of clothes

4. EDUCATION a. Writing

Motor Skills difficulty manipulating pencil during tracing activities. Process Skills limited ability to attend to task given difficult following 2-3step verbal instructions

Neuromusculoskeletal and movement-related functions muscle tone functions (hypotonic) Specific Mental Functions divided attention Higher-level cognitive functions (-) concept formation

b. Coloring

Motor Skills difficulty manipulating crayons during tracing activities.

Neuromusculoskeletal and movement-related functions muscle tone functions (hypotonic)

II. OVERALL ASSESSMENT Strengths 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 Downs 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 pts 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 pts 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. Pts 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 pts 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.

PLAN Intervention Plan FOR: Developmental, Behavioral, Rehabilitation Intervention Method: Remediation, Modification/ Compensation 1. PROBLEMS IN ADL PERFORMANCE a. Dressing FOR: Behavioral FOR/Developmental FOR 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 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 pts 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. Toileting FOR: 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 enforce 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 pts attention to tasks. l. Purposeful Activity: Actual placing and removing of napkin. If performed successfully, pt will be tasked to

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dispose used napkin properly. 2. PROBLEMS IN IADL PERFORMANCE Home establishment and management FOR: Behavioral FOR, Rehabilitation FOR LTG1: 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.) b. BMT: 1. backward chaining 2. (+) 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 pts 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 doing e. EMT: Covering mirrors with linen and/ or closing curtain should be done to focus pts 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

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c.

d. e. tasks. f. Purposeful Activity: Arts and craft activities involving coloring shapes and simple geometric figures. Recommendations:

TUS: Active friendliness to build rapport and motivate pt to participate; Kind firmness to enforce pt to participate. LFT: Infotalk to describe, understand, and remember the activity or what the pt is doing EMT: Covering mirrors with linen and/ or closing curtain should be done to focus pts attention to

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 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 pts attention to tasks. RELATED LITERATURE Downs Syndrome The description of Downs 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

Downs syndrome is a set of mental and physical symptoms that result from having an extra copy of Chromosome 21. Normally, a fertilized egg has 23 pairs of chromosomes. In the case of Downs syndrome there are three copies of Chromosome 21 instead of two, changes the body and brains 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 mothers 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,

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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 Alzheimers disease. Neurofibrillary tangles are known to occur in a variety of degenerative diseases, whereas senile plaques seem to be found most often on Alzheimers disease and Down syndrome. Thus the two disorders may share some pathophysiology. Two different hypotheses have been proposed to explain the mechanism of gene action in Down syndrome: 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 overexpressed in cells and tissues of Down syndrome patients, and this contributes to the phenotypic abnormalities (Cheon, 2003). Characteristic features of Downs syndrome Even though people with Downs syndrome may have some physical and mental features in common, symptoms of Downs syndrome can range from mild to severe. Usually, mental development and physical development are slower in people with Downs syndrome than in those without the condition. Mental retardation is a disability that causes limits on intellectual abilities and adaptive behaviors (conceptual, social, and practical skills people use to function in everyday lives). Most people with Down syndrome have IQs that fall in the mild to moderate range of mental retardation. They may have delayed language development and slow motor development. Physical Signs in Downs Syndrome 1. 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

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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 Flat nasal bridge Open fontanelle (after the age of 6 months) Posterior: 12 months Anterior: 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 1. Small teeth 2. Furrowed tongue Ten best diagnostic signs in newly born 1. Oblique palpebral fissures

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3. Seemingly higharched palate 4. Oblique palpebral fissures 5. Epicanthic folds 6. Flat occiput 7. Short broad hands 8. Curved 5th finger 9. Four-finger crease 10. Hyperextensibility or hyperflexibilty

2. 3. 4. 5.

6.
7. 8. 9. 10.

Dysplastic Abundant skin Flat facial profile Four finger crease Dysplastic middle phalanx 5th finger Hyperextensibiity or hyperflexibility Muscular hypotonia Dysplastic pelvis Lack of Moro reflex

Not all babies with Downs 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 babys cells. They use special tools to photograph the chromosomes and then group them by size, number and shape. By examining the karyotype, they can determine accurately whether or not a baby has Downs syndrome. Developmental Patterns There is evidence that environmental factors, such as good care at home and training, can improve the rate of development in Downs 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 Downs 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 Downs syndrome learn to walk after two years of age. Some did walk at 12 months but others not until 4 years. Language Language 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 Downs syndrome exhibit characteristics that lead to articulation problems. There are potential predisposing factors toward articulation problems in Downs syndrome 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 understand. 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. Personality Langdon 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.

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The newly born Downs 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. Intellectual Although each child is unique in his repertoire of abilities, those children with Downs syndrome fall for the most part within the trainable range, i.e., an average IQ in the range of 40 to 55 (moderate MR). Development 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 Downs syndrome childs general level of functioning has stabilized. With Downs 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 language functioning and reasoning ability, not by memory. Educational The communication ability of the Downs 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 Downs child are taught in classes for the trainable mentally retarded. Concentrated attention is placed on the teaching of self-care and socialization skills. Academic intervention 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 community. 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. Simple coins may also be introduced. The term academics perhaps should be restated as functional academics. Skills the child will be required to perform are associated with their functional value in society. Behavioral It 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 functional relationship between a behavior and its consequences and provides a baseline measure of the behavior against which behavior change during treatment can be compared. Consequently, maintained behavior can be changed in two ways. If the behavior occurs only in the presence of specifiable environmental stimuli, altering the stimuli could change the behavior. If, for example, a case revealed that the behaviors occurred only in school when a Downs 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 Downs Syndrome There 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 syndrome. 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:

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maternal serum screening o 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 womans age, these are used to estimate her chance of having a child with Down syndrome. Typically offered between 15 and 20 weeks of gestation, 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) screening o 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, researchers 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. Diagnostic procedures The diagnostic procedures available for prenatal diagnosis of Down syndrome are chorionic villus sampling (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 syndrome.

Amniocentesis (routinely performed at 14-16/15-22week's gestation) is the most commonly 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 weeks and cordocentesis (collection of fetal blood from the umbilical vein with an ultrasound-guided needle). Fluorescence in situ hybridization (FISH) analysis may be performed to analyze interphase cells (uncultured cells) and metaphase spreads (cultured cells) for speedy results. However, 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 Downs syndrome Advanced maternal age remains the only well-documented risk factor for Downs 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 Downs syndrome are at slightly increased risk (about 1%) for having another affected child. People with Downs 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. Downs syndrome treatment Down 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

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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 Downs syndrome Occupational 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 programs, infant development programs, specialty nursery schools, public schools, and through private therapy 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 available. 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 activities. Adolescence (12 to 18 years) Begin functional transition planning (age 16). Twice yearly dental exams. Consider enrollment for SSI depending 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 MANIFESTATIONS Performance Components/ Classical Picture Area/ Physical characteristics Clinical Picture

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I. Physical features of Downs syndrome

1. Flat face with abnormal shape of the ears 2. Upward slant to the eye 3. Prominent epicanthal folds 4. Deep crease in the palm of the hand (simian crease) 5. Flat nose 6. 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 Trainable range, IQ average of 40-55 They are happy and cheerful and are considered to be goodtempered and easily amused. They tend to mimic and may be mischievous. Lack of independence Difficulty un swallowing and chewing due to small size of nasal passages Communication ability of the Downs child is often significantly inferior Difficulty with expressive language

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 3. Personality

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. At age 13 pt is still dependent on mother for dressing. Pt has no difficulty. Pt has difficulty in communicating in school and is not at par with her classmates in academics Pt has difficulty in expressing herself verbally.

4. ADL

5. Educational Performance 6. Social Participation

Prognosis The 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 Downs 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 pts 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 pts fair memory skills which could be used in training the pt to recognize familiar people from strangers to address problems concerning safety.

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Pt has fair potential for social participation. Positive factors such as willingness to participate in activities and comply, respond to therapists requests. Pts 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 pts 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. Downs Anomaly. 2nd edition. 1976

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