Posted by: Indonesian Children | December 13, 2009

Rehabilitation Intervention For Development Delayed in Children with Down Syndrome

Case Report :

Rehabilitation Intervention For Development Delayed in Children with Down Syndrome

Narulita Dewi, Jakarta Indonesia

 

Introduction

Historical background

In1866, John Langdon Down, a British physician working in an institution for children with mental retardation, recognized patients with similar characteristics as previously described by Esquirol and Séguin: flat face, round cheeks, epicanthal folds, thick tongue, and small nose. He also noted that these children had language difficulties, a short life expectancy, and humorous personalities. He referred to these children as “Mongoloids” based on their similar appearance to people from Mongolia. The term “mongolism” was commonly used to describe these individuals; however, this was replaced by Down syndrome (DS) when the Mongolian People’s Republic pointed out the inappropriateness of the term. It was not until 1959 that DS was found to be due to the presence of an extra chromosome 21, or trisomy 21.1

The extra chromosome 21 is considered the direct cause of Down syndrome; the indirect causes responsible for the extra chromosome are yet to be identified. However, Down syndrome is not caused by something the mother does (or does not do) during pregnancy. Trisomy 21 can occur in one of three forms:2

Incidence

Down syndrome is a relatively common genetic disorder, occurring in about one of every 800 to 1,000 live births. The chance of having a baby with Down syndrome increases significantly with the mother’s increasing age. For example, at age 35 (mother’s age), the risk of having a child with Down syndrome is one in 400; at age 40, the risk is one in 110; at age 45, the risk is approximately one in 35 (National Down Syndrome Society). The risk of having a second child with Down syndrome is higher. If a parent is a balanced translocation carrier, the risk of having a child with Down syndrome may be as high as one in ten.2

Mortality and morbidity

Approximately 75% of concepti with trisomy 21 die in embryonic or fetal life. Approximately 85% of infants survive to age 1 year, and 50% can be expected to live longer than age 50 years. Congenital heart disease is the most important factor that determines survival. In addition, esophageal atresia with or without transesophageal (TE) fistula, Hirschsprung disease, duodenal atresia, and leukemia contribute to mortality. The high mortality rate later in life may be the result of premature aging. Individuals with Down syndrome have a greatly increased morbidity rate, primarily because of infections involving impaired immune response. Large tonsils and adenoids, lingual tonsils, choanal stenosis, or glossoptosis can obstruct the upper airway. Airway obstruction can cause serous otitis media, alveolar hypoventilation, arterial hypoxemia, cerebral hypoxia, and pulmonary arterial hypertension with resulting cor pulmonale and heart failure. A delay in recognizing atlantoaxial and atlanto-occipital instability may result in irreversible spinal-cord damage. Visual and hearing impairments in addition to mental retardation may further limit the child’s overall function and may prevent him or her from participating in important learning processes and developing appropriate language and interpersonal skills. Unrecognized thyroid dysfunction may further compromise CNS function.3

Diagnosis

A diagnosis of Down syndrome is confirmed by chromosome analysis. Diagnosis in the newborn or older individual is accomplished by chromosome analysis of lymphocytes (white blood cells) obtained from a blood sample. Prenatal diagnosis involves examination using fetal cells floating in the amniotic fluid (obtained by amniocentesis) or of cells taken from the placenta (chorionic villus sampling). Prenatal testing is usually performed when there is an increased risk of the fetus having Down syndrome. An increased risk might be indicated by increased maternal age, a prior family history of Down syndrome or a chromosome abnormality in the parent, or by abnormal levels of certain biochemical markers found on maternal blood screening.3

Physical and developmental characteristics

The most common physical and developmental features of children with Down syndrome include:2

Physical characteristics 

  • Diminished rate of growth and physical development. Most people with Down syndrome do not reach average adult height 
  • An atypical head shape. The head may be smaller than average (microcephaly), with a flat area at the back (occiput)
  • Eyes that slant upward toward the edge of the face (upslanting palpebral fissures) and an excess fold of skin over the inner corner of the eyes (epicanthal folds)
  • White (Brushfield) spots in the colored part of the eyes
  • Small or overfolded ears, a flat nasal bridge, and a small mouth with low oral muscle tone and a protruding tongue
  • Short, broad hands with short fingers and a single crease spanning the width of the palm (single palmar crease)
  • Decreased muscle tone

In addition to the general developmental delays that are characteristic of most children with Down syndrome, there may also be qualitative differences between the development of children with Down syndrome and typically developing children. Furthermore, within a population of children with Down syndrome, as within any group of children, there will be considerable individual variability of development. It is important to recognize that all children with Down syndrome will have distinguishing strengths and talents as well as limitations.

Medical Problems

Children with Down syndrome are at risk for:4,5

  • Short stature.
  • Congenital heart disease. More than 40 percent of children born with Down syndrome will have a congenital heart malformation.
  • Frequent ear infections and other respiratory tract infections.
  • Hearing loss. Infants and children may have a conductive loss as a result of middle ear effusion or structural abnormalities of the ear, a sensorineural loss, or both. Some people with Down syndrome may begin to develop hearing loss after 10 years of age. If undetected, this may significantly impact on all areas of development.
  • Eye problems including refractive errors, strabismus, nystagmus, and cataracts. Congenital cataracts can lead to vision loss if not treated.
  • Dental anomalies and gum disease.
  • Thyroid function abnormalities (hypo- or hyperthyroidism) occur more frequently among individuals with Down syndrome.
  • Obstructive airway disease. Symptoms include snoring, unusual sleeping positions, excessive fatigue or napping during the day, inattention and distractibility, or behavior changes.
  • Increased mobility of the cervical spine between the first and second vertebrae (atlantoaxial instability). This condition is found by x-ray in approximately 14 percent of individuals with Down syndrome. Symptoms, occurring in about 1-2 percent of individuals with Down syndrome, include neck pain, unusual posturing of the head and neck, change in gait, loss of upper body strength, abnormal neurologic reflexes, and change in bowel/bladder function (Cohen 1996).
  • Congenital defects of the gastrointestinal tract. These include duodenal atresia, an obstruction of the first segment of the small intestine.
  • Higher incidence (but still only about 1 percent) of acute lymphoblastic leukemia than in the general population. In this condition, abnormally dividing white blood cells replace normal blood marrow elements, leaving the affected child susceptible to anemia, bleeding, and infection. Symptoms may include excessive bleeding and bruising, pinpoint red spots (petechiae), bone or joint pain, and enlarged lymphnodes.
  • A tendency toward obesity.

The development of children with Down syndrome7,8,9

Children with Down syndrome make progress in all areas of development, in the same way as other children but usually at a slower pace. Some areas of their development are usually more delayed than others, leading many researchers to now describe a specific profile of strengths and weaknesses.[1,2]

However, before describing this profile in more detail, it is important to stress that any group of 100 infants or preschool children with Down syndrome will vary as widely in abilities, behaviour, personality characteristics, size and appearance as any group of 100 ‘typically developing’ preschoolers. Their development is influenced by their biology and by their social and learning opportunities, like all other children.

The effect of the extra chromosome on the foetal development of babies with Down syndrome is not the same for all the infants. For example, nearly half are born with congenital heart defects but the other half have no heart abnormalities, and while some children have bowel abnormalities, most do not. It is clear that the effects on physical development vary, for reasons not yet fully understood, and it can be predicted that the effects on brain development and learning abilities also vary between children. Some of the individual differences in rates of progress are therefore due to biological differences at birth. Some children with Down syndrome will have a greater degree of disability than others, however good their family care and stimulation, their therapy and school services. It is important to stress this point, as many parents wrongly blame themselves when their child makes slow progress.

The progress of most children with Down syndrome is also influenced by the stimulation and love provided in the family, the opportunity to be included in all aspects of community life and by better quality education. As a group, children with Down syndrome are progressing faster and achieving more than they did 25 years ago.

Children with Down syndrome are individuals8,9

Children with Down syndrome are all individuals. The conventional stereotypes are inaccurate and unhelpful. In physical appearance, they look like their parents and brothers and sisters, just like all other children. They do have some physical characteristics as a result of having Down syndrome but they do not all look alike and neither do the ‘Down syndrome’ features dominate their appearance. Similarly, children with Down syndrome vary widely in personality, from being extroverted, friendly and sociable to being introverted and shy. Some children are always calm, others are anxious. Some children are flexible and adaptable, others find change difficult and may have a tendency to be obsessional in their behaviours. Some children are easy to manage, are happy to be co-operative and to conform at home and in school, while other children are difficult to manage and like to have their own way, or to be in control, at home and at school.

Similarly, in all areas of development, children with Down syndrome vary in their progress. Some children will be fairly slow to achieve the motor milestones of reaching, sitting and walking and others will show little motor delay, and some children with Down syndrome will have more difficulty learning to talk than others.

The reasons for these differences will be partly influenced by genetic makeup and partly influenced by the way in which parents, carers and teachers have been able to help the child to adapt to the demands of growing up. If a child with Down syndrome is more severely delayed than is typical, it is particularly important that his or her parents have extra help and support from services and from parent support groups.

Each baby and child with Down syndrome is an individual and he or she has the same needs as any other child plus some specific needs, and it is important that everyone concerned with a child with Down syndrome remembers this. It is helpful to know about the specific needs that are usually associated with Down syndrome and these are described in the next section, but having Down syndrome does not define any individual child.

It is also important to remember that a child with Down syndrome may have additional difficulties, like any other child. A small number of children with Down syndrome have additional medical complications, like seizures or other illnesses, which may affect their development. Similarly, a small number of children have autistic spectrum difficulties, attention deficit or hyperactivity. These additional difficulties affect less than 10% of children with Down syndrome but they should be recognised and treated in their own right when they do occur. These difficulties are discussed in a little more detail later in this module.

Most children with Down syndrome can achieve a number of the same developmental goals at 5 years of age as other children. Most five-year-olds are walking, toilet trained, able to feed themselves and put on at least some of their own clothes.

Most 5-year-olds are able to be part of an age-appropriate group and can conform to the social expectations in the classroom. They are able to sit at a table, listen to the story and follow the teacher’s instruction – with some needing no help to do this and others needing some support. Most children can control their own behaviour and are not anti-social. They have appropriate understanding of the emotions of others, for example, when they are happy, sad or hurt.

Therefore motor skills, social progress and behaviour are strengths. However, most 5-year-olds with Down syndrome will have significant delays in spoken language – typically talking in 2 or 3-word phrases, and the words may be difficult to understand. Some children will have a knowledge of the maths concepts needed in the classroom, and be starting to count, despite general language delay. Some children will be reading a sight word vocabulary and know their letter names and sounds, despite having general language delay.

The specific developmental profile associated with Down syndrome

Children with Down syndrome are all individuals and vary in their rates of progress – however, they tend to have a specific profile of strengths and weaknesses 7,8,9 :

  • Social development and social learning are strengths, right from infancy – the children enjoy and learn from social interaction with adults and peers
  • Motor development is usually delayed and may hold back progress in self-help skills, handling toys in play and in writing, though the use of gesture to communicate is a strength
  • Speech and language development is usually the children’s area of most significant delay – it is more delayed than non-verbal abilities. Most children understand more than they can say and signing is an important bridge to speaking. Speech intelligibility is usually a difficulty. A high incidence of hearing difficulties is contributing to speech and language delay.
  • Working memory development is specifically delayed relative to non-verbal abilities, particularly the verbal short-term memory component – so that learning from listening is difficult for the children. Working memory also supports thinking, problem solving and reasoning. Visual and spatial processing and memory are relative strengths – so that the children learn effectively from visual information – they can be thought of as visual learners.
  • Social behaviour- the children have strengths in social skills and in developing age-appropriate social behaviour, if this is encouraged and expected. However, their good social understanding and empathy leads them to pick up on non-verbal emotional cues, such as those for anxiety or disapproval, very quickly. They are therefore sensitive to failure and may use behavioural strategies to avoid difficult situations.

Over the last 15 to 20 years, researchers have made progress in understanding the effects of having Down syndrome on development, though there is still much more to learn in order to fully understand how to help the children. Research has identified a specific profile of developmental strengths and weaknesses. However, while this profile is typically associated with Down syndrome, the degree to which any individual with Down syndrome shows this pattern will vary. It is helpful as a guide to understanding any child’s developmental needs and learning profile, but it should be treated as a checklist for any individual child, as he or she may have all or none of these characteristics and if he or she does have some, the degree to which they show any strength or weakness will need to be assessed in order to develop an appropriate therapy, early intervention or teaching programme8.

While children with Down syndrome experience some delays in all areas of development, the extent of the delay is not the same across all areas of development.9

Social understanding and social interactive skills are a relative strength and less delayed than speech and language skills. Most children with Down syndrome make eye-contact, smile and interact by cooing and babbling from the first months of life, and show little delay in social interactive skills. They are socially sensitive and understand the non-verbal cues to emotions, such as facial expression, tones of voice and body postures, from the first year of life.8

Motor skills, including reaching, sitting and walking, are delayed but the main milestones are steadily achieved and most children become mobile and independent in self-help skills, such as feeding and dressing, which require motor skills.

Speech and language skills are more delayed than the children’s non-verbal understanding and reasoning abilities. This is a pattern of specific language impairment. Most children with Down syndrome understand more language than they can use as a result of specific speech production difficulties. For this reason, learning to sign will help the majority of children to communicate, to show their understanding and reduce their frustration. Hearing difficulties, usually due to ‘glue ear’ are common and contribute to speech and language difficulties.8

For most children with Down syndrome, the most serious delay that they experience is in learning to talk. This is not only frustrating but it has serious consequences for all other aspects of their social and cognitive development. As children learn to talk, each new word that they learn is a new concept or piece of information about their world. Once they can string words together, speech becomes a powerful tool for learning and for communicating with everyone in their world, and it also becomes a tool for thinking, remembering and reasoning. We carry out these mental activities using silent speech in our minds. While we can also use visual imagery to imagine and recall events, reasoning with the use of language is considerably more powerful. It follows that a serious delay in learning to understand and to use language will lead to delay in all aspects of mental or cognitive development. Conversely, if we can improve the rate at which children learn language, this should benefit all areas of their social and cognitive development.7

Working memory development, particularly verbal short-term memory, seems to be specifically impaired – again not progressing as fast as would be expected for non-verbal abilities – and this has consequences for the children’s ability to process information.7

Visual memory and visual processing are relative strengths, while auditory processing and auditory memory are more impaired. This means that children with Down syndrome should be thought of as visual learners and all teaching supported with visual materials.7

Reading ability is often a strength from as early as two years of age, perhaps because it builds on visual memory skills, and reading activities can be used to teach spoken language from this time.7,8

Number seems to be relatively more difficult for children with Down syndrome and their number skills delayed relative to reading skills.8

Social behaviour is a strength as children with Down syndrome are less likely to develop difficult behaviours than other children with similar levels of cognitive delay. However, children with Down syndrome are, as a group, more likely to develop difficult behaviours than non-disabled children of their age.7,8

 

Treatment

Because it is a problem with the chromosomes, there are no cures for Down syndrome. Therefore, treatment for the condition focuses on controlling symptoms and any medical conditions that result because of Down syndrome. Treatment for Down syndrome can include: regular checkups for health screening and prevention, medications, surgery, counseling and support.5, 6

Children with Down syndrome are at greater risk for some illnesses and for hearing and visual difficulties. Any child’s developmental progress will be influenced by illness or sensory difficulties, so that it is important that all healthcare issues are understood and addressed.5

Health Conseling

Family physicians can help patients with Down syndrome develop good communication and social skills that will enhance their ability to live independently, have a job and interact with others. Although the foundation for these skills starts before adulthood, there are still ways to help an adult with Down syndrome function more effectively. Speech and language therapy may improve intelligibility of language. Vocational training and job coaches also are helpful.5,6

A local parent-support group is a valuable resource for information on relationship and sexuality training, abuse prevention, estate planning and independent and group living. Local groups can be found in the telephone book or obtained from national organizations, such as the National Down Syndrome Society.

An adult with Down syndrome is considered competent to make medical decisions unless declared otherwise. The issue of whether or not guardianship is appropriate should be addressed early. When guardianship is not appropriate, the question of advanced directives, especially power of attorney for health care and finance, should be addressed.5,6,7

Frequently, independent living with supervision is appropriate but not available. Group homes are not appropriate for everyone, and some behavior problems that occur in group homes may be due to the stress of people living together who do not like one another. Some parents have tried to alleviate this problem by buying houses or duplex apartments to better control the living arrangements. Independent but supervised housing is important long-term planning. Parents may die or become incapacitated, and other family members cannot always step in.5,6

Local parent groups can also provide information about estate planning for the family. Frequently, supplemental trusts are used to handle money inherited by the adult with Down syndrome.7

Physicians and family members should anticipate stresses that may overwhelm the adult with Down syndrome. Planning can ensure a successful transition, such as those from home to apartment or from one job to another. Anticipatory planning can also lessen the impact of the loss of access to a friend or family member. The physician should monitor these patients for loss of independence, loss of living skills or function, depression and behavior changes at least annually.8

CASE REPORT

 

The patient is 5 years and 4 months old girl. She was referred to PM&R department by pediatric department

A. ANAMNESIS

Chief complaint is speech delayed

History of present illness

The patient with Down syndrome, patient’s mother knew her child had feature Down syndrome from a doctor since born, but she did not know what the problem of her baby in the future. In this age the patient can’t speech fluently. If she wants something, sometime she talks “suffix of the word”. Sometime with pull hand’s mother or point it. The patient can do a simple instruction. She can refuse if she doesn’t like something and she can choice that she likes. The patient also was difficult imitate a word that her mother talking, especially vowel “ i ”.

 The acuity of patient’s visual is minus 9 for right eye and minus 8 for left eye. She often refuse for use her glasses, may be not comfortable.

For activity daily living, the patient every Monday to Thursday she goes to PAUD and every Wednesday in the evening she learn dancing, every Saturday morning she goes to Gymnastic/exercise sport club, before exercise she should be run around field and she can around field 3 time. The patient every Monday goes to Dentist in the RSCM for maintain her teeth.

The patient can eat with using spoon and can chew but for defecation and urinary the patient using pampers, although sometime she can talk it (toileting) before that. The patient can dressing and undressing with supervision but she didn’t know distinguishing front and back of clothing, she can doff her shoes, but can’t don.

History of past Illness :

The patient ever hospitalize in the St Carolus hospital cause of fever, diarrhea, and bronchopneumonia in the 2 years old.

History of Family Illness:

No history of family illness

Psychpsocial Status            :

The patient is second child, she only has 1 older brother, healthy and normal. The patient was taken care by her mother. She lived in the grandmother’s house (200 meter square) with her uncle’s family. Her father selling stall in the front of house, and her mother is housewife. In this house her parents only expenses telephone, for PLN and PAM expensed by her uncle (brother of mother). The income of the patient’s parents is 150,000-200,000 rupiah per day. Her medical expenses are from SKTM.

Pre, peri, post natal history

  • Pre-natal        : her mother age was 42 years old when pregnant, antenatal care regular to a midwife. In this period no problem with mother and the baby (there was no history of fever or bleeding and no drug history).
  • Peri-natal       : the patient was a term, Spontaneous parturition help by a doctor, crying inadequate, there was mild cyanosis and jaundice, cyanotic disappear around in 3 months old. The patient birth weight was 3900 gram and her birth length was 46 cm.
  • Post-natal      : the patient had no history of seizures. She had basic vaccination.

Development History

  • Head lift at 3 months old
  • Move from supine to prone at 3 months old.
  • Sitting at 1 year and 5 months old
  • Standing at 2 years old
  • Walking at 2 years and 8 months old
  • Babbling at 10 months old

 

B. Physical Examination (conduct on 24th October 2009)

General Examination

Patient came to clinic being carried by her mother

Consciousness             : Compos mentis, Mental             : no irritability

General appearance : Down syndrome’s profile

Vital sign: temperature : no fever, respiration rate:20x/minute,pulse: 90x /minute

Nutritional status: body weight: 16 kg (normoweight), body height       : 98 cm (normoheight)

Gait                                :           wide base

Skin                               :           Normal color and normal turgor, hyperkeratosis (-)

Head and neck                     :

Head                                          :           circumference 46 cm, microcephaly

head neck control (+) adequate

Neck                              :           Midline position.

Eyes                               :           Up-slanting palpebral fissures, bilateral epicanthal

folds, refractive errors: myopi OD/OS:9/8, strabismus divergen/convergen (-/-), conjungtiva anemia (-/-),  sclera icteric (-/-) Direct/ indirect light reflexes (+/+).

Ear                                 :           small with an overfolded helix. Response to     

                                           auditory

stimulus (+/+)

Nose                              :           Hypoplastic nasal bone and flat nasal bridge (+)

Mouth and teeth          :           open mouth, tongue protrusion, mouth breathing

                                            with drooling (-), malformed teeth and caries dentis

                                             (+), high palatum arch, pharynx not hyperemic, arch

                                           of pharynx symmetrical, no deviation of uvula.

Thorax                                                :

Cor                                 :           normal heart sound, no murmur, no gallop

Pulmo                            :           symmetric movement of the chest wall during

respiration, sound of breath is vesicular, no

wheezing, no ronkhi

Abdomen                              :           normal bowel sound.

Back                                       :           vertebral alignment straight, shoulder and

                                                  Scapulae symmetrical, postural tone hipotonus

Neuromuscular

Nervi cranialis              :           there is no paralise of nervi cranialis.

In sitting/erect Position:

Neck                              :           Head lifting adequate. Head neck control adequate

Trunk                             :         trunk control adequate, sitting/standing balance

                                           adequate

Upper Extremities    :

Look               :           no deformity, no inflammation, no atrophy

Feel                :           hypotonus (+/+), no tightness

Move              :           ligamentum laxity (+) in the wrist bilateral, ROM

full/full (see details on the table 1), MMT impression normal, physiologic reflex BTR ++/++, pathologic reflex Hofmann Trommer -/-, no spasticity, no rigidity.

Lower Extremities

Look               :           no deformity, no inflammation, no atrophy, genu

valgus, ankle instability, flat feet.

Feel              :           hypotonus, slightly tightness hamstring

Move            :           spasticity (-/-), regidity (-/-), clonus (-/-) ligament

laxity (+) in the hip, knee, and ankle bilateral, ROM full/full, MMT impression normal, physiological reflex KPR +/+, pathologic reflex Babinsky -/-.

Special test:

Popliteal angle 00/00

Ortolani test (-), Barlow test (-)

Milestone                     :

Gross Motor               :           equal to 3 years old (runs well, walks up stairs with

alternating feet)

Fine Motor                 :           equal to 2 years (place pencil shaft between thumb

                                        And fingers, draws with arm and wrist action)

Personal social        :           equal to 2 years (use spoon well, opens door

                                        Turning knob)

Speech-language    :           equal to 18 months (points to named body part)

Cognitive                   :           equal to 18 months (capable of insight; problem

solving by mental combinations, not physical

groping)

 

C. Supporting Finding

1. BERA examination (5nd February 2007) : Impression : Ambang dengar AS =

    30 dB (normal) Ambang dengar AD = 30 dB (normal)

2. IQ test: Moderate MR (Wechs = 50)

D. Summary

A girl with Down syndrome, 5 years and 4 months old, was come to PM and R department with chief complaint speech delayed . The other problems is a motor delayed, mental retardation and refraction error in correction.

From physical examination, the patient is normal weight but she has microcephaly. She also has severe myopia (OD/OS = 9/8) in correction but not adequate, has small nose, flat nasal bridge (+), caries dental (+), high palatal arch (+). In UE & LE bilateral: hypotonic, slight genu valgus, ligament laxity, small finger, hypo reflexes.

From supported finding, Berra test is normal limit, the result of IQ test is Moderate MR (Wechs = 50)

E. Diagnosis

Medical Diagnosis               :           Down Syndrome with development delayed

Rehabilitation Diagnosis    :           speech and language impairment, motor

development delayed, general hypotonic, ligament

laxity.

ICF:

  1. Body function
  • b117 Intellectual functions
  • b147 Psychomotor functions
  • b167 Mental functions of language
  • b210 Seeing functions
  • b310 Voice functions
  • b730 Muscle power functions
  • b220 Structure of eyeball
  • s750 structure of the lower extremity
  • b130 Copying
  • d330 Speaking
  • d440 fine hand use
  • d445 hand and arm use
  1. Body structure

 

F. Problem Inventory

Medical problems                : mental retardation, delayed development and refraction error

Rehabilitation problem       :

  1. Speech and language impairment
  2. Delayed gross motor development
  3. Delayed fine motor development
  4. Visual impairment (correction inadequate)
  5. General hypotonic
  6. Ligament laxity.
  7. Slight genu valgus
  8. Slight ankle instability
  9. Flat feet

10.  Financial problem.

 

G .Goal

Short term

  1. Improve speech and language especially expressive
  2. Improve hand function and dexterity
  3. Improve visual function with always use comfortable glasses
  4. Maintain strength trunk and limb muscle
  5. Maintain body weight and nutritional status

Long term

  1. Independence in personal care
  2. Able to communication and interaction in peer or community
  3. Prevent all medically problem linked Down syndrome.
  4. Maintain good nutritional status.

 

Goals for speech and language therapists working with 5-11 year olds with Down syndrome

  1. to have up-to-date knowledge of the specific research literature on speech and language development, working memory and effective therapies for children with Down syndrome
  2. to understand the significance of the specific impairment in the phonological loop component of working memory for the speech and language profile associated with Down syndrome
  3. to understand the importance of reading work to support the development of vocabulary, grammar and speech clarity, using strengths in visual memory
  4. to understand the importance of auditory discrimination for speech sounds, phonics activities, phonological awareness training and speech work for improving working memory function
  5. to have clear targets for 4 areas of work, speech, vocabulary, grammar and communication skills and to keep detailed records of progress
  6. for vocabulary and grammar, to have separate targets for comprehension and for production, as comprehension in both domains is typically significantly ahead of production
  7. for speech work, separate targets may be needed for articulation, phonology and intelligibility (pacing, voice etc)
  8. to review oral-motor function, feeding, chewing and drinking patterns and advise accordingly
  9. all targets should be shared with parents, teachers and assistants

10. children with Down syndrome should be seen at least monthly in school, targets reviewed and activities set for parents, teachers and assistants to include in their daily routines

11. these activities should be modelled with the child by the speech and language therapist, if parents and assistants are expected to deliver therapy

12. ideally, all children with Down syndrome of primary school age should have weekly individual or group sessions of speech and language therapy with a therapist who has specialist knowledge and the skills to address their profile of difficulties, particularly for speech and intelligibility work.

Goals for teachers of 5-11 year olds with Down syndrome

  1. to involve the child in all aspects of school life and school routines
  2. to support social independence in school and the development of friendships with peers
  3. to support the development of play skills and inclusion with peers in break and lunchtimes
  4. to encourage, model and expect age-appropriate, socially acceptable behaviour at all times
  5. to be familiar with the research findings which demonstrate a specific cognitive profile associated with Down syndrome and to adapt teaching methods appropriately
  6. to provide access to all areas of the school curriculum at a level appropriate for the individual child
  7. to recognise the importance of teaching reading and writing daily, to develop speech, language and working memory skills as well as literacy skills
  8. to have clear targets for speech and language work for each child, and identify how these can be absorbed into all aspects of the curriculum
  9. to facilitate independent learning and the ability to work and to learn as part of a group

10. to make full use of computer aided learning, with appropriate software for individual and group work

Goals for occupational therapists and physiotherapists

  1. to provide programmes of activity to develop gross motor skills and spatial awareness
  2. to advise on adaptations and specific activities to enable children to participate in the school PE and games curriculum
  3. to advise parents on suitable sporting, dance or gymnastics activities and any adaptations necessary to enable their child to participate
  4. to advise teachers and parents on suitable seating and posture in the classroom and at home
  5. to provide activities and adaptations to develop fine motor skills, fine motor co-ordination and handwriting
  6. to review progress with independent drinking, feeding, toileting and dressing, if necessary, and advise on any adaptations needed

 

H. PROGNOSIS

Ad vitam                    :           dubia ad bonam

Ad functional                        :           dubia ad bonam

Ad sanationam         :           dubia

I. PROGRAM

Medical problem

  1. Education for parent or family about all problem that linked with Down syndrome
  2. Preschool and School Services may include special education provided by a certified teacher and focused on the needs of the child.
  3. Periodic counseling for health screening and prevention

Rehabilitation problem

  1. Speech and language therapy:
    1. Non-verbal skill: smiling, eye-contact, initiating a conversation, maintaining the topic (pragmatic)
    2. Vocabulary : stimulation to build a dictionary of single word and their meanings (lexicon and semantic)
    3. Grammar:  stimulation to learn the word ending rules for plurals, tenses, word order rules for questions, negatives, (morphology and syntax)
    4. Speech/motor skills: stimulation to make speech sounds, produce clear words with correct stress and intonation (articulation, phonology and prosody)
    5. Oral motor exercise for improve oral muscle strenght.
    6. Occupational therapy: hand training

                                          i.    Training hand functions: reaching, carrying, release, hand eye coordination ( precision) and bilateral integration

                                        ii.    Training hand skill: three jaw chuck, pinch, grasp

  1.  
    1. General hypotonic :

                                          i.    Exercise for maintain strength upper and lower extremity muscle.

                                        ii.    Exercise for maintain strength extensor trunk and abdominal muscle.

                                       iii.    Cardio respiration endurance.

  1. Special shoes for supported limb

 

 

 

 

 

 

J. CASE ANALYSIS

A patient could be suspected Down syndrome since born from physical examination. The extra chromosome 21 is considered the direct cause of Down syndrome, as we know if mother has age 40 then the risk of Down syndrome is one in 110; if age 45, the risk is approximately one in 35 (National Down Syndrome Society). In this case, known the patient’s mother is 42 years old when pregnant of her.

In this patient found dysmophic features like Down syndrome such as head circumference 46 cm, (microcephal). Eyes up-slanting palpebral fissures, bilateral epicanthal folds, refractive errors: myopi OD/OS:9/8, ear small, nose hypoplastic nasal bone and flat nasal bridge (+) and mouth and teeth open mouth, tongue protrusion, malformed teeth and caries dentis (+), high palatum arch, hypotonic oral muscle. All above condition, addition hypotonic oral muscle and microcephaly (the brain is abnormally rounded and short with a decreased anterior-posterior /AP diameter) with mental retardation cause difficult of speech and language.

In this patient also is found, mental retardation and delayed development. Known that overall brain weight in individuals with Down syndrome is 76% of normal, with combined weight of the cerebellum and brainstem being even smaller: 66% of normal, the number of sulci is decreased, and cytologic in brains of children with Down syndrome found small neurons, decrease synaptogenesis owing to altered synaptic morphology, also there are abnormalities of structure dendritic spines in the pyramidal tracts of the motor cortex and lack of myelination as well as delay in the completion of myelination between 2 month and 6 years.

The patient also has refraction error (visual acuity problem) that may affect eye hand coordination (can’t move together for fine motor tasks) and has smaller hand and finger, also she has general hypotonic and ligament laxity, in the children with Down syndrome that cause of collagen deficit and all of this problem is a major contributing factor to developmental motor delay.

Children progress significantly in all areas of their development during this period from 5 to 11 years and success in these years builds their self-esteem and confidence. Conversely, difficulties in any of the areas of progress discussed can have a significant negative effect on any child’s confidence and self-esteem.7

Children’s progress varies widely, even within the range considered to be ‘typical development’ and these differences will be in part explained by inherited individual differences in abilities and aptitudes but it will also be powerfully influenced by the family support and educational opportunities that they receive.8

Between 5 and 11 years, typically developing children make significant progress in all areas of their development and we have tried to illustrate the significant changes that take place in figure 1. There is a wide range of individual differences in achievements in all these areas, with some children being more socially confident than others, some children making faster academic progress than others and some children having more difficulty with behaviour control than others.7

Perhaps the biggest challenge for children at the start of this age period is settling into school. Children start full-time school at different ages in different countries but most children will be spending part or all of each day in a kindergarten or school class by 5 years of age. In the UK, full-time school starts in the year a child reaches their fifth birthday and formal instruction in reading, writing and number begins in that school year (Reception class).7,8

Figure 1. An overview of developmental progress from five to eleven years in typically developing children7

Childhood can be seen as a period of preparation for adult life. In preschool years, children are largely sheltered in their family world and parents determine friendships and social experiences. Joining full-time school is a big step into the wider community and it provides important opportunities for children to learn about the wider community, and to mix with a wider variety of children and adults. Children’s strengths and weaknesses will become more apparent as they leave the support of their families and have to cope in these larger communities. If children are going to have some difficulties socially, emotionally or academically, these will become apparent when they meet the challenges of the typical school environment.

Going to school – social and academic demands8

The classroom environment places demands on children’s social skills as well as their language and learning abilities.The children are part of a large group of children in the classroom, and will have to be able to cope socially with a range of different children. They have to communicate with one another in the classroom and the playground. They are beginning to learn about how to get on with others and how to make and keep friends. These are very important skills for teenage and adult life. They will meet children whose behaviour and attitudes are different from their own as they experience a wide range of children in their community from different backgrounds and social circumstances. These experiences are very important for helping children to develop their social skills.7,9

During the preschool years, children will have had quite a high level of individual support for learning in their families but in the full-time school classroom they have to be able to be part of a large group and to follow the teacher’s instructions to the whole group. They may also have many opportunities for small group work and activities, but they will not be able to have much one-to-one support for their learning in most typical school classrooms. In their first years in the school system, children are expected to learn to read, write and count, and some will find this easier than others. The abilities and the aptitudes of children will begin to become apparent to their parents, teachers and themselves. Children will also develop their learning skills and become increasingly independent learners.9

Speech and language skills

The school environment places a heavy demand on children’s speech, language and communication abilities. Most of the classroom and school instruction is through spoken language. When typically developing 5 year olds enter school they do not all have the same spoken language skills. Some children will be much more competent talkers than others, with larger vocabularies and more advanced grammar and some will be more able listeners than others. Some children will have difficulty listening to and remembering all the spoken instructions and information given by their teachers. Studies show that children with delayed speech and language for their age have difficulty in the classroom and tend to fall behind with their academic progress. Children’s language abilities and learning abilities are also influenced by their working memory skills. Recent research has shown that children with poorer working memory skills when they enter school have difficulty keeping up with the academic work.7

Children’s spoken language skills develop a great deal during the period from 5 to 11 years. Most typically developing 5 year olds come to school talking in sentences. They have several thousand words in their vocabulary and they have mastered most of the grammar of their native language. They do learn some more complex and formal grammar during these school years and they learn a great deal of new vocabulary (as many as 3000 new words each year from 7 to 16 years). This progress in vocabulary and grammar has been shown to be influenced by the children’s reading progress. Children who have reading difficulties, and fall behind their peers on reading progress, do not make typical progress on language or working memory measures. Children also develop their ability to enter into conversations, to initiate conversations with other children and adults and to tell stories or describe events they have taken part in, during this period.8.9

Academic progress

During the primary school years, typically developing children are expected to achieve at least a basic level of competence in reading, writing and mathematics. Most 5 year olds are beginners, usually starting school unable to read though they may know some sight words and some letter names and sounds, and they may be able to write their name and to count to 20. Most children make steady progress over the next six years and by the age of 11 years can write and spell well enough to record classroom work and to write a short story. Most will be able to read books for information and for pleasure. Most will be able to calculate using numbers at least to one thousand, tell the time and calculate money accurately. Most children will be able to weigh and measure adequately for everyday applications. Some typically developing children will be more advanced than this, but a significant number of typically developing children (20-25%) will not have achieved these levels by 11 years of age.8

Children will be studying a wide range of subjects on the school curriculum such as science, geography and history but their literacy skills will influence their progress across all aspects of the curriculum. Children will also be enjoying music and creative arts, and these areas, along with sport and music, will not be as influenced by success with literacy. Musical and sporting abilities will be developing and some children will discover that they have particular abilities in these areas or in creative arts, including painting, dance and drama.7,8

Out of school – social and practical independence

In the years from 5 to 11, children will be experiencing a wider range of leisure and community activities. They will be able to join clubs and activities for their age group and they will become more involved in family tasks such as shopping. Children will begin to establish a wider range of friendships and visit with friends at their homes to play. They will be invited to parties and outings with friends and their families.

By the end of this age period, children may be walking to school without parent support and walking to local shops or to friend’s homes. They may also be learning to use buses independently or with friends by 11 years of age. They will have watches and be able to tell the time. They will know their names and addresses and know what to do if they have a difficulty when out on their own. They will be able to use the telephone.9,9

At home – personal independence

At home children will begin to take care of their personal needs over this period. At 5 most children will still be helped to wash, bath and choose appropriate clothes for the day’s activities and weather. By 11 years, most children will be achieving independence in self-care, able to run a bath or shower at the right temperature, learning to wash their own hair and cut their own finger and toe nails. They will choose their own clothes. They will not yet be expected to do their own laundry, although they may be expected to keep their own rooms clean and tidy.7

Most 11 year olds can make simple snacks such as toast and hot drinks, using kettles, toasters, microwave ovens and possibly cookers and ovens safely for simple meals. Many parents will be beginning to leave children of this age unsupervised at home for short periods and be confident that they know what to do in the event of an emergency i.e. they can use the phone and know when to call a neighbour or phone for a doctor, ambulance, fire engine or policeman.8

All of above problem cause the patient need the rehabilitation program include physical therapy, occupational therapy, speech therapy. Routine evaluation should be done by physiatrist and pediatrician to prevent all of medicine problem linked Down syndrome.

 

 

 

REFERENCE

 

  1. Smith DS. M.D, Health Care Management of Adults with Down Syndrome a peer review-journal of the American Academy of family Physicians September 15, 2001
  2. Chen H, MD, MS, FAAP, FACMG, Down Syndrome Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center Contributor Information and Disclosures Updated: Jun 15, 2009
  3. Bruni M, BSc OT(C), Fine Motor Skill in Children with Down Syndrome: a guide for parents and profesionals, 1998
  4. Clinical Practice Guideline Report of the Recommendations Down Syndrome Assessment and Intervention for Young Children, New York State Departement of Health Division of Family health Bureau of Early Intervention. www.hes.org
  5. Lemieux BG, Chromosome-linked disorder in Swaiman KF, Pediatric Neurology Principle and Practice Ed 2, 1994; 25; 390-394
  6. Buckley SJ. Speech, language and communication for individuals with Down syndrome — An overview. Down Syndrome Issues and Information. 2000.
  7. Freeman, S.F.N. and Hodapp, R.M. (2000). Educating children with Down syndrome: linking behavioral characteristics to promising intervention strategies. Down Syndrome Quarterly, 5(1), 1-9.
  8. Chapman, R.S. and Hesketh, L.J. (2000). Behavioural phenotype of individuals with Down syndrome. Mental Retardation and Developmental Disability Research Reviews, 6, 84-95.
  9. Rynders, J., Abery, B.H., Spiker, D., Olive, M.L., Sheran, C.P., and Zajac, R.J. (1997). Improving educational programming for individuals with Down syndrome : Engaging the fuller competence. Down Syndrome Quarterly, 2(1), 1-11.

 

 

Supported  by

CHILDREN SPEECH CLINIC

Yudhasmara Foundation

Office ; JL Taman Bendungan Asahan 5 Jakarta Indonesia 10210

phone : 62(021) 70081995 – 5703646

email : judarwanto@gmail.com,

https://speechclinic.wordpress.com/

Clinic and Editor in Chief :

Dr WIDODO JUDARWANTO

email : judarwanto@gmail.com

curriculum vitae

 

 

Copyright © 2009, Children Speech Clinic  Information Education Network. All rights reserved

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 


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