Down's Syndrome
What is another name for "down's syndrome?"
A.K.A: Trisomy 21G or Mongolism
What should be the prognosis/outcome?
The person achieves independent mobility, oral control and self-feeding skills The person is independent in self-care activities The person demonstrates marketable productive skills, homemaking skills for independent living, leisure skills and interests
What is Trisomy 21 nondisjunction?
This type of Down syndrome, which accounts for 95% of cases, is called trisomy 21. Down syndrome is usually caused by an error in cell division called "nondisjunction." Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body.
What happens when there is under response to sensory input and exhibit?
Decreased awareness/attention to tactile stimuli, position of the body, sense of balance, equilibrium responses, decreased duration of post rotary nystagmus Failure to alter force of movements
What are the leisure problems?
Difficulty developing leisure tasks May not used developed leisure skills without assistance
What is the treatment for productivity?
Encourage exploratory and symbolic play activities
What is the sensorimotor treatment?
Infant: concentrate on handling and positioning Increase muscle strength to provide stability (neck, shoulders, trunk, and pelvis) Increase: ROM, GM skills, postual responses, movement patterns, encourage reflex maturation, muscle tone, motor planning, bilateral integration, tactile activities, Provide: joint stability, proprioception, vestibular input, auditory input, balance and equilibrium activities Decrease: tactile sensitivity and defensiveness, gravitational insecurity
What is Mosaicism?
Mosaicism occurs when nondisjunction of chromosome 21 takes place in one - but not all - of the initial cell divisions after fertilization. When this occurs, there is a mixture of two types of cells, some containing the usual 46 chromosomes and others containing 47. Those cells with 47 chromosomes contain an extra chromosome 21. Mosaicism accounts for about 1% of all cases of Down syndrome. Research has indicated that individuals with mosaic Down syndrome may have fewer characteristics of Down syndrome than those with other types of Down syndrome. However, broad generalizations are not possible due to the wide range of abilities people with Down syndrome possess.
What self care problems are there?
Needs assistance with ADL's Skills needed for ADL's may never be learned Tongue/palate/chewing/mouth breathing abnormalities lead to delays with tongue movements impacting speech and eating Generalized hypotonia including oral
What is the treatment management for self care?
Encourage oral motor development for self feeding Decrease sensitivity and increase tongue control and chewing Encourage self dressing and grooming
What is the psychosocial treatment management?
Encourage parental involvement in carry over of therapy program
What are the cognitive problems?
Usually has subnormal intelligence, delayed development, poor attending behaviors, poor concentration and easily distracted, difficulty planning ahead, delayed problem solving
What are the sensory motor problem areas?
Usually hypotonic and has hypermobility in joints Delayed physical milestones Missed physical milestones such as crawling uses alternate locomotion(may scoot on buttocks) Short broad hands and fingers affect fine motor abilities Congenital heart disease may limit the persons physical capacity and decrease endurance Misalignment of the neck vertebrae exposing the spinal cord to neck injury Shortened bones especially in the arms and legs increseing difficulty of tasks such as climbing stairs and propping on elbows May have muscle weakness, poor bilateral control, poor midline stability, poor motor planning skills or dyspraxia,
What is DS and what are the characteristics of "DS"?
Chromosomal disorder usually resulting in mental retardation, and specific characteristics low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm
What is the cognitive treatment management?
Home program to parents to increase mobility, FM skills, GM skills, and skills to reach developmental milestones Encourage attending behaviors and concentration Especially in visual and auditory activities Increase ability to initiate activities and tolerate novel activities by providing a variety of activities
What precautions should we look out for?
Instability and subluxation of joints Spinning may be contraindicated Physical contact sports may be contraindicated Possible cardiac issues which reduce physical endurance Possible seizure disorders Possible food allergies and/or asthma Difficulty with ears can affect hearing and balance Visual disorders related to strabismus, astigmatism, optic nerve hypoplasia
What are the productivity problems?
Person is most successful at jobs that require repetitive easy to master tasks
What are the psychosocial problem areas?
Person tends to be passive and appears to lack motivation May have low self esteem Persons' affective behavior may be delayed Poor attending behavior Poor concentration and easily distracted Limited ability to plan ahead Delayed ability to problem solve
What is the cause of DS?
Regardless of the type of Down syndrome a person may have, all people with Down syndrome have an extra, critical portion of chromosome 21 present in all or some of their cells. This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. The cause of nondisjunction is currently unknown, but research has shown that it increases in frequency as a woman ages. However, due to higher birth rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age. There is no definitive scientific research that indicates that Down syndrome is caused by environmental factors or the parents' activities before or during pregnancy. The additional partial or full copy of the 21st chromosome which causes Down syndrome can originate from either the father or the mother. Approximately 5% of the cases have been traced to the father.
What happens when there is over response to sensory input and exhibit?
Resistance to handling, touching, and being touched Avoidance of weight bearing on arms, legs, hands, and knees Fear of heights and unstable moving surfaces (swings, slides, ladders, etc.)
What is Translocation?
Translocation accounts for about 4% of all cases of Down syndrome. In translocation, part of chromosome 21 breaks off during cell division and attaches to another chromosome, typically chromosome 14. While the total number of chromosomes in the cells remain 46, the presence of an extra part of chromosome 21 causes the characteristics of Down syndrome
What are the 3 different types of DS?
Trisomy Translocation Mosaicism
