a state in which function is impaired in intellectual functioning and adaptation skills
3 major criteria for intellectual disability:
- Manifest before 18 y/o.
- IQ falls 2 SD below the mean (< 65-75 )
- Difficulties with: Communication, self care, home living, social skills, leisure, work, etc.
Domains of adaptive function impairment:
Conceptual: language, reading, math, general knowledge.
Social: empathy, interpersonal skills, ability to maintain friendships
Practical: work, personal care, job, organization, etc.
Vineland Adaptive Behavior Scales
assess adaptive behavior (mostly O.T.)
To fulfill the diagnostic criteria for intellectual disabilities, deficits in_______ or more areas of adaptive functioning must be present, thus showing a generalized limitation in adaptive skill level.
Cytomegalovirus (prenatal infection)
TORCH disorder: TORCH Syndrome refers to infection of a developing fetus or newborn by any of a group of infectious agents. "TORCH" is an acronym meaning (T)oxoplasmosis, (O)ther Agents, (R)ubella (also known as German Measles), (C)ytomegalovirus, and (H)erpes Simplex.
De Lange Syndrome
Fetal alcohol syndrome
Fragile X syndrome
- Hypotonia, poor coordination and motor planning
- missdiagnosed with autism
- Difficult behavior: bang their own head
- Severe hypotonia and feeding problems in infancy
- girls only
- repetitive hand motion
- can't talk
Motor impairment seen in children with intellectual impairment
- Motor Control
- Postural Control
- Force Production
- Flexibility (increased)
Chromosomal disorder that results in 47 chromosomes instead of 46
(trisomy 21 )
There are 3 chromosomal patterns that result in Down syndrome:
(types of Down Syndrome)
Trisomy 21: three #21 chromosomes (95%)
Translocation: a part of chromosome #21 breaks off during cell division and attaches to another chromosome. (4%)
Mosaicism: nondisjunction of chromosome #21 (1-2%)
When a part of chromosome #21 breaks off during cell division and attaches to another chromosome.
is caused by a faulty cell division that results in the baby having three #21 chromosomes instead of two
When this happens, there is a mixture of two types of cells, some containing 46 chromosomes and some with 47.
When this happens, it may indicate that one of the parents is carrying chromosomal material that is arranged in an unusual manner.
Down syndrome is usually identified at
birth or shortly thereafter.
Initially. the diagnosis is based on _________________ that are commonly seen in babies with
The diagnosis must be confirmed by a chromosome study (karyotype). A karyotype provides a visual display of the chromosomes grouped by their size, number and shape. Chromosomes may be studied by examining blood or tissue cells.
Approximately 40 - 60% of the children with Down syndrome have
congenital heart defects
- It is very important that an echocardiogram be performed on all newborns with Down syndrome in order to identify any serious cardiac problems that might be present.
- Some of the heart conditions require surgery while others only require careful monitoring.
True or false: children with Down syndrome have a higher incidence of infection, respiratory, vision and hearing problems as well as thyroid and other medical conditions.
The average life expectancy of individuals with Down syndrome is ______ with many living into their sixties and seventies.
Premature aging is seen in these individuals
Most children with Down syndrome have mild to moderate impairments but it is important to note that they are more like...
other children than they are different.
- Most children attend their neighborhood schools, some in regular classes and others in special education classes. Some children have more significant needs and require a more specialized program.
Three diagnostic tests are currently available:
- Amniocentesis is performed between 12 and 20 weeks gestation.
- Chronic Villus Sampling (CVS) is conducted between 8 and 12 weeks.
- Percutaneous Umbilical Blood Sampling (PUBS) is performed after 20 weeks.
Brain weight _____ of normal
Neuropathology in Down syndrome:
- Decreased number of secondary sulci
- Decrease number of neurons and synapses
- Delayed or lack of mylenation
- 85% have some form of seizure disorder
- Increase in Alzheimer Neurofibrilary Tangles with age
visual and hearing problems in Down syndrome:
- Adult onset cataracts
- Far sightedness
- Strabismus (crossed eyes)
- Otitis media (inflammation of the middle ear)
- Bilateral Hearing Loss
Musculoskeletal deficits in Down syndrome:
- Decrease in stature (greatest deficiency in growth between 6 – 24 months)
- Decrease leg length
- Decrease length in metacarpal and phalangeal length
- Absent palmaris longus
- Lack of differentiation of zygomaticus major and minor
- Hypotonia and ligamentous laxity causing instability of joints and increase incidence of atlantoaxial subluxation
- Decreased Strength
In Down syndrome, hypotonia and ligamentous laxity causing instability of
joints and increase incidence of
Simian crease in Down Syndrome
a single crease observed across the palm of the hand
Musculoskeletal problems in Down syndrome:
- Pes Plannus
- Patellar instability
- Atlanto-axial instability
- Hip dysplasia
Early signs of atlanto-axial instability or dislocation include
- Changes in DTR’s,
- gait disturbance,
- urinary retention
tharapist working with pt with Down syndrome should avoid positions of exaggerated neck flexion, extension, rotation, be cautious with approximation of c-spine, cautious with inverted positions and tumbling. Why?
atlanto axial dislocation/instability
- Contact sports generally contraindicated
- Can be treated surgically with C1-C2 fusion
to facilitate normal co-contraction?
weight bearing exercises
Score above 2 in the Morgan-Paleg Hypotionia Scale
Morgan-Paleg Hypotionia hypotonia Scale:
- Head control
- Vertical Suspension
- Hip Abduction
- Ankle Dorsiflexion
Assessment of Ligamentous Laxity
Score of > /= 4/9 considered indicative of generalized hypermobility
Postural Control Activities:
- Anti gravity work
- Heavy Work
Intervention for Motor Control Issues:
- NDT approach
- Postural control activities (MEDEK, heavy work)
- Regular exercise
Have child fitted for orthotics when they are beginning to
pull to stand and cruise
Wear orthotics _____of the time
During therapy use orthotics with
standing postural work or play
(may not in sitting)
orthotics are named by
the body parts that they cover
Neoprene compression garmets
These can provide increased body awareness and sensory feedback. Neoprene wraps can be purchased in the weight lifting section of stores such as Wal-mart, K-mart, Target.
Hip Helpers® Support Shorts are the answer to excessive hip abduction in babies and toddlers
with low muscle tone. They have been found to improve rotational movement and limit “W” sitting in babies who are developing their movement skills
True or false: Children with Hypotonia tend to lean into support (sitting) systems
- Seating Devices
- Children with Hypotonia tend to lean into support systems
- Children without head control may benefit from supportive seating at 3-6 months
- Seating should be more dynamic
- Start at 9 months if child is not sitting Independently for play
Suggested by Daminano (researcher) should be standard of care for children with DM
- 8 min 5 x a week for pre-walkers,
- 20 min 5x a week for older children
Evidence for kids with Down Syndrome/hypotonia
- Treadmill training / orthotics
- Exercise and PT
- Whole body vibration (older kids)
- Compression garments
- Power Cars / Chairs
- Vestibular Sensory / Wii
strongest evidence for kids with Down Syndrome/hypotonia
Treadmill training / orthotics
Aging with Down Syndrome
Hypothyroidism: resulting in Low energy levels, weight gain, bradycardia, constipation, dry skin
Cardiovascular Changes: including mitral Valve prolapse, low cardiovasular
capcity = ↑ risk of ♥ failure, ♥ disease, CV
- MSK changes (osteoporosis)
- Alzheimer's (75%)
capcity = ↑ risk of ♥ failure, ♥ disease, CV
Impairments in ____________, rather than low IQ, are usually the presenting symptoms in individuals with intellectual disabilities. Adaptive skills are those skills considered to be central to successful life functioning and are frequently related to the need for supports for persons with intellectual disabilities.