Conditions - Down Syndrome Flashcards
Down Syndrome 3 Types
- Trisomy 21 (95%)
- Translocation (4%)
- Mosaicism (1%)
Trisomy 21
- This error occurs in the egg or the sperm prior to or during conception.
- Chromosome 21 fails to divide causing
- an embryo to have three copies of
- chromosome 21 instead of just a pair in
- every cell of the body.
- The child with DS is born with 47
- chromosomes rather than the normal 46
Translocation
- part of chromosome 21 breaks off during cell division and attaches to another chromosome (chromosome 14, 21, or 22), typically chromosome 14 (NDSS, 2010; Roizen, 2007)
- can be inherited from parents
- “Translocation involves the transfer of a portion of one chromosome to a completely different chromosome” (Batshaw, 2007, p. 7).
- 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.
- Chromosome analysis may help determine the origin of the translocation.
Mosaicism
- A child is born with some cells having the trisomy 21 defect, but not all cells (i.e. some brain cells have trisomy 21, but not all brain cells).
- Physical characteristics and cognitive impairments are less severe.
Prenatal Testing /Diagnosis
- Screening Tests
- Diagnostic test
- -Screening tests estimate the risk that a fetus has DS
- Screening tests are non-invasive and painless, and used to decide if more tests are necessary.
- -Diagnostic tests can actually tell whether the fetus has the disorder.
- Diagnostic tests are 99% accurate, but have a risk of miscarriage.
types of screening tests
- Nuchal Translucency Test (11w2d-14w2d)
uses ultrasound to measure the space behind the folds of a baby’s neck, down syndrome will cause an abnormally large space - Quad Marker & Serum (Blood) integrated screening (10-13w)/(15-20w)
measures the quantities of different substances in the mother’s blood and use that and the woman’s age to estimate the chance of the fetus having down syndrome - Detailed Ultrasound
checks the fetus for physical traits of down syndrome
types of Diagnostic Tests
- Amniocentesis (after 15w)
small amount of fluid is taken out of the uterus and testing for the presence of chromosomal abnormalities - Chorionic Villus Sampling (10-14w)
taking a small number of cell sample of the placenta through a needle - Percutaneous Umbilical Blood Sample (20-24w)
uses a needle to retrieve a small sample of the blood in the umbilical chord.
Commong physical characteristics
GROSS MOTOR
Hypotonia - low muscle tone
Ligamentous Laxity - loose ligaments that cause hyperextensibility in the joints
Poor postural control and balance
Common physical characteristics
FACIAL FEATURES
- Flat facial profile
- Small nose and ears
- Upward slant to the eyes
- Small skin folds on the inner corner of the eyes
- Enlarged tongue in relation to the size of the mouth (tongue protrusion)
- Dental problems (malocclusions, which is abnormal contact of the opposing teeth)
Common physical Characteristics
PHYSICAL CHARACTERISTICS
- A single deep crease across the center of the palm (simian crease)
- Large gap between the hallux and the second digit of the foot
- Orthopedic problems (atlantoaxial subluxation, flat feet, patellar instability)
- Short Stature
- Obesity
COMMON MEDICAL CONCERNS
- Congenital Heart Defects
- Hearing & Vision Deficits
- Gastrointestinal Problems
- Thyroid Problems
- Skin Conditions
- Sleep Disorders (sleep apnea)
- Epilepsy
NON-PHYSICAL CONCERNS
- Mental Retardation
- Developmental Delay
- Learning Disabilities
- Emotional Problems
- Speech Delays
- Communication Difficulties (articulation)
OCCUPATIONA PATTERNS -INFANTS
Sleep patterns may be affected due to sleep apnea. Most infants with DS are born with congenital heart defects and require surgery. This would affect their typical habits and routines because of weakness and lethargy.
- Feeding patterns may be affected due to hypotonia. Symptoms of hypotonia include the following:
- Delayed development of head control
- Poor lip closure
- Weak sucking reflex
- Tongue protrusion
- Poor swallowing patterns
- Decreased jaw stability
As a result of feeding difficulties, feeding habits and routines may be affected.
Difficulty with feeding can cause an interruption in parent-child bonding.
The stress associated with feeding can be translated to the family (other family members)
OCCUPATIONAL PATTERNS - SCHOOL AGE
- Feeding patterns:
- Sensory sensitivity to touch, taste, texture, and temperature
- Related feeding difficulties associated with hypotonia
- Learning patterns may be affected by:
- Cognitive delays (due to MR)
- Learning disabilities
- Memory difficulties
- Poor postural control (due to hypotonia)
- Delayed gross and fine motor abilities
- Social patterns and “fitting in” may be affected by:
- Speech delays and poor expressive language
- Difficulty reading and responding to social cues
GROSS MOTOR FUNCTION AND CHILDREN WITH DS
Purpose: To determine the “…gross motor function growth curves for children with Down syndrome (DS) and to estimate the probability that motor functions are achieved by different ages” (p. 494).
Results: “The results indicate that children with DS require more time to learn movements as movement complexity increases …” (p. 499).
Implications for OT: (Knowing the gross motor function growth curves for children with DS)
Helps identify the child’s strengths and needs
Provides a better understanding and realistic expectations of when a child with DS will acquire a motor function (keeping in mind the variability between each child)
Is beneficial when OT’s are creating goals and intervention plans
Family and OT can focus on realistic and achievable goals for the child
Parents of children with DS can have a clear expectation for their child versus comparing them to children without gross motor delays. This will hopefully help parents from becoming disappointed with their child and/or therapist.
Promotes the need for early intervention services
